Mutagenetix > Phenotypic Mutations

Phenotypic Mutations

852 mutations affecting 363 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 854] per page Full List
		~						Verification Probability		Phenotypic Category and and and	⇒
1	Asf1b	0.000	contraire	8	83955507-83970197 bp (+)	83955911	Autosomal Recessive (3;14)	0.593	2022-04-23 Diantha La Vine	FACS CD44+ CD8 MFI - increased FACS effector memory CD8 T cells in CD8 T cells - increased OVA-specific IgE - increased total IgE level - increased	T ⇒ C	missense		probably damaging	0.999
2	Ltbr	0.161	Armitage	6	125306571-125313885 bp (-)	125312794	Autosomal Recessive (1;5) Autosomal Semidominant (1;2)	0.800	2022-04-15 External Program	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ A	missense		probably damaging	0.973
3	Prkdc	0.949	Screamer10	16	15637866-15842235 bp (+)	15768025	Unknown	no linkage result	2022-04-15 External Program		A ⇒ T	missense		probably damaging	0.981
4	Mbtps1	1.000	woodrat	8	119508156-119558735 bp (-)	119529030	Unknown (1;0)	no linkage results	2022-04-12 External Program	Body Weight - decreased Body Weight (Z-score) - decreased DSS: sensitive day 7 embryogenesis homeostasis/metabolism immune system lethality-embryonic/perinatal pigmentation reproductive system skin/coat/nails	T ⇒ C	missense		probably damaging	1.000
5	Gk5	0.000	toku	9	96119362-96184608 bp (+)	96140629	Unknown (1;0) Autosomal Recessive (2;5)	0.523	2022-04-12 External Program	FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased skin/coat/nails	GCC ⇒ GC	frame shift		probably null
6	Kbtbd2	0.000	teeny	6	56777524-56797813 bp (-)	56780389	Unknown (1;0) Autosomal Recessive (7;54), Autosomal Semidominant (1;7)	0.978	2022-04-12 External Program	30 min GTT hyperglycemic Body Weight - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased Body Weight (Z-score, female) - decreased Body Weight (Z-score, male) - decreased FACS CD44+ CD8 T cells - increased growth/size liver/biliary system	G ⇒ A	nonsense		probably null
7	Dck	0.000	rosa	5	88764996-88783281 bp (+)	88772723	Autosomal Recessive (19;119)	0.978	2022-04-12 External Program	Body Weight - decreased Body Weight (Z-score) - decreased FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B1b cells - increased FACS B2 cells - decreased FACS B220 MFI - decreased FACS CD11c+ DCs - increased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD8 MFI - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS CD8+ T cells in CD3+ T cells - increased FACS CD8a+ DCs (gated in CD11c+ cells) - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS macrophages - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS NK cells - increased OVA-specific IgE - increased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV total IgE level - increased	T ⇒ C	missense		probably damaging	1.000
8	Tcf12	1.000	Poorly3	9	71842688-72111871 bp (-)	72015636	Autosomal Recessive (7;44) Autosomal Semidominant (15;83)	0.976	2022-04-12 External Program	FACS B:T cells - decreased FACS B1 cells - decreased FACS B220 MFI - increased FACS CD4:CD8 - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ T cells - increased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS T cells - increased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	A ⇒ G	critical splice donor site	2 bp	probably null
9	Ttc21b	1.000	plus-sized	2	66184327-66256617 bp (-)	66242679	Autosomal Recessive (3;29)	0.484	2022-04-12 External Program	Body Weight - increased Body Weight (Female) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased	A ⇒ G	missense		probably damaging	0.998
10	Pi4ka	1.000	Pia	16	17280351-17406314 bp (-)	17281044	Autosomal Recessive (3;18) Autosomal Semidominant (3;12)	0.381	2022-04-12 External Program	FACS CD44+ CD4 T cells - increased FACS CD44+ T cells - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased MTT Value of PECs - decreased	C ⇒ T	missense		probably damaging	0.997
11	Smcr8	0.000	patriot	11	60777524-60788287 bp (+)	60778032	Autosomal Recessive (6;34) Autosomal Semidominant (1;6)	0.931	2022-04-12 External Program	DSS: sensitive day 10 DSS: sensitive day 7 FACS B1a cells - increased FACS B1a cells in B1 cells - increased FACS B220 MFI - increased FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8a+ DCs (gated in CD11c+ cells) - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD8 T cells in CD8 T cells - decreased TLR signaling defect: hypersensitivity to CpG + IFNg total IgE level - increased	T ⇒ C	missense		probably damaging	1.000
12	Lrba	0.000	oscar	3	86224680-86782692 bp (+)	86350304	Autosomal Recessive (2;15)	0.904	2022-04-12 External Program	DSS: sensitive day 10 DSS: sensitive day 7 FACS B1b cells in B1 cells - increased FACS B220 MFI - increased FACS CD11c+ DCs - increased FACS effector memory CD4 T cells in CD4 T cells - increased	C ⇒ T	nonsense		probably null
13	Wdr81	1.000	jello	11	75440944-75454717 bp (-)	75441812	Autosomal Dominant (1;5) Autosomal Recessive (4;22)	0.812	2022-04-12 External Program	Body Weight - decreased Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased Body Weight (Z-score, male) - decreased dsDNA induced type I IFN production - decreased impaired response to dsDNA- type I IFN production by macrophages LPS-induced Necroptosis - decreased Macrophage necroptosis: low	A ⇒ G	missense		probably damaging	1.000
14	Ikzf1	0.000	Herrscher	11	11685003-11772926 bp (+)	11768961	Autosomal Dominant (20;149)	0.977	2022-04-12 External Program	Body Weight (BP, z-score, male) - decreased FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS B1a cells - increased FACS B1b cells - increased FACS B1b cells in B1 cells - decreased FACS B2 cells - decreased FACS B220 MFI - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - decreased FACS CD44+ CD4 T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - decreased FACS IgM+ B cells - decreased FACS macrophages - decreased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS NK cells - decreased FACS NK1.1+ T cells - increased FACS T cells - increased	C ⇒ T	nonsense		probably null
15	Nedd9	0.000	hebei	13	41309581-41487362 bp (-)	41338979	Autosomal Recessive (5;29)	0.680	2022-04-12 External Program	FACS B1a cells in B1 cells - decreased MCMV susceptibility post-MCMV FACS B1a cells in B1 cells - decreased post-MCMV FACS B1b cells in B1 cells - increased	A ⇒ T	nonsense		probably null
16	Wdr41	0.000	gogi	13	94976344-95023314 bp (+)	95015217	Autosomal Recessive (13;82) Autosomal Semidominant (3;16)	0.965	2022-04-12 External Program	DSS: sensitive day 10 DSS: sensitive day 7 FACS B1a cells - increased FACS B220 MFI - increased FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS NK1.1+ T cells - increased Nlrc4 inflammasome: low response NLRP3 inflammasome: low response TLR signaling defect: hypersensitivity to CpG + IFNg TLR signaling defect: hypersensitivity to LPS TLR signaling defect: hypersensitivity to PAM3CSK4 TLR signaling defect: hypersensitivity to poly I:C TLR signaling defect: hypersensitivity to R848	T ⇒ A	critical splice donor site		probably null
17	Entpd5	0.000	eatsy	12	84373857-84409029 bp (-)	84382295	Autosomal Recessive (11;50) Autosomal Semidominant (2;9)	0.962	2022-04-12 External Program	125-03 Response - increased Body Weight - decreased Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased Body Weight (Female) - decreased Body Weight (Z-score) - decreased Body Weight (Z-score, female) - decreased DSS: sensitive day 10 DSS: sensitive day 7 FACS B1 cells - increased FACS CD44+ CD8 MFI - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased growth/size TLR signaling defect: hypersensitivity to PAM3CSK4	G ⇒ A	nonsense		probably null
18	Bcl10	0.000	Derek	3	145922804-145934356 bp (+)	145930587	Autosomal Recessive (13;147) Autosomal Semidominant (2;11)	0.907	2022-04-12 External Program	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS B1a cells in B1 cells - decreased FACS B1b cells - decreased FACS B1b cells in B1 cells - decreased FACS B2 cells - increased FACS CD4+ T cells - increased FACS CD8+ T cells - increased FACS central memory CD4 T cells in CD4 T cells - decreased FACS central memory CD8 T cells in CD8 T cells - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS macrophages - decreased FACS neutrophils - decreased FACS NK cells - decreased FACS T cells - increased IgG1 response to a Cysteine Protease (Papain) - decreased NK cell response - decreased NK killing - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	A ⇒ G	missense		probably damaging	0.999
19	Slc9a8	0.000	costello	2	167421712-167477000 bp (+)	167451296	Autosomal Recessive (1;5)	0.421	2022-04-12 External Program	DSS: sensitive day 7	T ⇒ A	missense		probably damaging	1.000
20	Gys2	0.242	candy_corn	6	142422613-142473109 bp (-)	142456333	Autosomal Recessive (2;13)	0.046	2022-04-12 External Program	30 min GTT hyperoglycemic (female)	T ⇒ C	missense		probably benign	0.001
21	Arnt2	1.000	Arnold2	7	84246278-84410176 bp (-)	84347530	Autosomal Dominant (3;4) Autosomal Semidominant (4;22)	0.977	2022-04-12 External Program	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased Body Weight (Z-score, male) - increased DSS: sensitive day 10 growth/size NALP3 inflammasome signaling defect NK cell response - decreased NK killing - decreased NLRP3 inflammasome: high response	G ⇒ A	missense		probably damaging	1.000
22	Alms1	0.000	ares	6	85587531-85702753 bp (+)	85621275	Autosomal Recessive (2;10) Autosomal Semidominant (2;8)	0.973	2022-04-12 External Program	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased Body Weight (Z-score, male) - increased growth/size	C ⇒ T	nonsense		probably null
23	Cd36	0.096	almond_joy	5	17781690-17888801 bp (-)	17813088	Autosomal Recessive (1;5)	no linkage result	2022-04-12 External Program		T ⇒ A	missense		probably damaging	1.000
24	Lrp5	0.919	Spicule	19	3584828-3686564 bp (-)	3612197	Autosomal Dominant (1;4)	no linkage result	2022-04-02 Stephen Lyon		C ⇒ A	critical splice donor site	1 bp	probably null
25	Lrp5	0.919	lucent	19	3584828-3686564 bp (-)	3686353	Autosomal Recessive (10;58)	0.629	2022-04-02 Stephen Lyon	Bone: Hind Hip Distance (AI) - increased Bone: Hip Ratio (AI) - decreased Bone: Tibia Length (AI, residual) - decreased Bone: Tibia Length (AI, residual, male) - decreased	A ⇒ G	critical splice donor site	2 bp	probably null
26	Chsy1	0.000	Chrysanthemum	7	66109515-66173798 bp (+)	66110229	Autosomal Dominant (2;10) Autosomal Recessive (1;4), Autosomal Semidominant (3;16)	0.665	2022-04-02 Stephen Lyon	Body Weight - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased Body Weight (Z-score, female) - decreased Body Weight (Z-score, male) - decreased Bone: Femur Length (AI, residual) - decreased Bone: Femur Length (AI, residual, female) - decreased Bone: Femur Length (AI, residual, male) - decreased FACS B1 cells - increased	T ⇒ G	critical splice donor site	2 bp	probably null
27	Acan	1.000	Vacuo	7	79053483-79115099 bp (+)	79088307	Autosomal Dominant (39;418)	0.827	2022-04-02 Stephen Lyon	Body Weight - decreased Body Weight (BP, z-score, female) - decreased Body Weight (Female) - decreased Body Weight (Z-score) - decreased Body Weight (Z-score, female) - decreased Bone: Femur Length (AI, residual) - decreased Bone: Femur Length (AI, residual, female) - decreased Bone: Femur Length (AI, residual, male) - decreased Bone: Fore Hip Distance (AI) - decreased Bone: Fore Hip Distance (AI, female) - decreased Bone: Pelvis Length (AI, residual) - decreased Bone: Pelvis Length (AI, residual, female) - decreased Bone: Pelvis Length (AI, residual, male) - decreased Bone: Tibia Length (AI, residual) - decreased Bone: Tibia Length (AI, residual, female) - decreased Bone: Tibia Length (AI, residual, male) - decreased LPS Cachexia: Body Weight (day 0) - decreased LPS Cachexia: Body Weight (day 0, z-score) - decreased LPS Cachexia: Body Weight (day 1) - decreased LPS Cachexia: Body Weight (day 14) - decreased LPS Cachexia: Body Weight (day 2) - decreased	T ⇒ G	critical splice donor site	2 bp	probably null
28	Arcn1	0.000	greyhound	9	44741564-44767845 bp (-)	44750394	Unknown	failed initial filter	2022-03-09 Diantha La Vine	pigmentation skin/coat/nails	A ⇒ G	missense		possibly damaging	0.917
29	Adgrf5	0.000	sweetie	17	43360451-43459557 bp (+)	43450983	Autosomal Recessive (1;5)	0.049	2021-12-13 Diantha La Vine	30 min GTT hyperglycemic	A ⇒ T	missense		probably damaging	0.957
30	Apbb2	0.000	Dionysis	5	66298703-66618784 bp (-)	66452250	Autosomal Recessive (1;4) Autosomal Semidominant (2;8)	0.559	2021-11-30 Diantha La Vine	30 min GTT hyperglycemic 30 min GTT hyperglycemic (male) post-MCMV FACS effector memory CD8 T cells in CD8 T cells - increased	A ⇒ T	missense		probably damaging	0.986
31	Apbb2	0.000	bund	5	66298703-66618784 bp (-)	66400255	Autosomal Recessive (1;3)	failed initial filter	2021-11-30 Diantha La Vine	30 min GTT hyperglycemic 30 min GTT hyperglycemic (male)	T ⇒ A	missense		probably damaging	0.996
32	Ap3d1	0.939	christian	10	80706956-80742264 bp (-)	80730042	Autosomal Semidominant (1;0)	failed initial filter	2021-11-22 Diantha La Vine	pigmentation skin/coat/nails	G ⇒ T	missense		probably damaging	1.000
33	Ap3b1	0.328	bullet_gray	13	94358960-94566317 bp (+)	94451087	Unknown (2;0)	no linkage results	2021-11-22 Diantha La Vine	immune system MCMV susceptibility pigmentation skin/coat/nails	G ⇒ T	critical splice donor site	1 bp	probably benign
34	Ap3b1	0.328	bella	13	94358960-94566317 bp (+)	94528257	Autosomal Recessive (1;4)	0.520	2021-11-22 Diantha La Vine	pigmentation skin/coat/nails	A ⇒ T	missense		unknown
35	Ank1	0.651	Hema6	8	22974844-23150497 bp (+)	23097638	Unknown	no linkage results	2021-11-17 Diantha La Vine	anemia	T ⇒ C	intron		probably benign
36	Alx4	0.569	goofy	2	93642384-93681339 bp (+)	93675369	Unknown	no linkage results	2021-11-17 Diantha La Vine	craniofacial limbs/digits/tail phenotype	A ⇒ G	missense		probably damaging	1.000
37	Alms1	0.000	portly	6	85587531-85702753 bp (+)	85619712	Autosomal Recessive (5;24)	0.967	2021-11-17 Diantha La Vine	Body Weight - increased Body Weight (BP, z-score, female) - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased Body Weight (Z-score, male) - increased	T ⇒ C	missense		probably benign	0.004
38	Alms1	0.000	gut_check	6	85587531-85702753 bp (+)	85620369	Autosomal Recessive (4;17)	failed initial filter	2021-11-17 Diantha La Vine	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased Body Weight (Z-score, male) - increased	A ⇒ T	nonsense		probably null
39	Alms1	0.000	fatty	6	85587531-85702753 bp (+)	85627934	Autosomal Dominant (1;1) Autosomal Recessive (19;153), Autosomal Semidominant (1;1)	0.978	2021-11-17 Diantha La Vine	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased Body Weight (Z-score, male) - increased growth/size NK cell response - decreased NK killing - decreased	C ⇒ T	nonsense		probably null
40	Alms1	0.000	earthquake	6	85587531-85702753 bp (+)	85628735	Autosomal Recessive (42;272)	0.977	2021-11-17 Diantha La Vine	Body Weight - increased Body Weight (BP, z-score, female) - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased Body Weight (Z-score, male) - increased Bone: Pelvis Length (AI, residual) - decreased Bone: Pelvis Length (AI, residual, male) - decreased Bone: Tibia Length (AI, residual) - decreased	A ⇒ T	nonsense		probably null
41	Alms1	0.000	ares2	6	85587531-85702753 bp (+)	85677990	Autosomal Recessive (7;58) Autosomal Semidominant (2;9)	0.431	2021-11-16 Diantha La Vine	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased Body Weight (Z-score, male) - increased resistance to B10-F16 melanoma - decreased	C ⇒ T	nonsense		probably null
42	Aicda	0.000	bellezza	6	122553801-122564180 bp (+)	122561185	Autosomal Dominant (2;8) Autosomal Recessive (8;44), Autosomal Semidominant (1;9)	0.749	2021-11-15 Diantha La Vine	LPS-induced Necroptosis - decreased Macrophage necroptosis: low NALP3 inflammasome signaling defect Nlrc4 inflammasome: high response NLRP3 inflammasome: high response OVA-specific IgE - decreased ratio of OVA-specific IgE over the total IgE - increased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV TLR signaling defect: hypersensitivity to LPS TLR signaling defect: hypersensitivity to PAM3CSK4 TLR signaling defect: TNF production by macrophages Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased total IgE level - decreased	A ⇒ G	missense		probably benign	0.029
43	Adra2a	0.000	splenda2	19	54045182-54048982 bp (+)	54046639	Autosomal Recessive (4;19) Autosomal Semidominant (1;4)	0.867	2021-11-10 Diantha La Vine	30 min GTT hypoglycemic 30 min GTT hypoglycemic (female) 30 min GTT hypoglycemic (male)	T ⇒ C	missense		probably damaging	1.000
44	Adra2a	0.000	splenda	19	54045182-54048982 bp (+)	54046495	Autosomal Recessive (6;32) Autosomal Semidominant (2;11)	0.704	2021-11-10 Diantha La Vine	30 min GTT hypoglycemic 30 min GTT hypoglycemic (female) 30 min GTT hypoglycemic (male)	A ⇒ G	missense		probably damaging	1.000
45	Adgre1	0.277	Scallion	17	57358686-57483529 bp (+)	57401977	Autosomal Semidominant (1;10)	0.286	2021-11-01 Diantha La Vine	FACS macrophages - decreased	A ⇒ G	missense		possibly damaging	0.899
46	Adgre1	0.277	Onion	17	57358686-57483529 bp (+)	57402841	Unknown	no linkage results	2021-11-01 Diantha La Vine	FACS macrophages - decreased	T ⇒ A	nonsense		probably null
47	Adgre1	0.277	lomax	17	57358686-57483529 bp (+)	57402811	Autosomal Recessive (1;7)	0.421	2021-11-01 Diantha La Vine	FACS macrophages - decreased	A ⇒ G	missense		unknown
48	Adgre1	0.277	F480	17	57358686-57483529 bp (+)	57444063	Unknown	no linkage results	2021-11-01 Diantha La Vine	immune system normal phenotype	A ⇒ G	missense		probably damaging	1.000
49	Tlr9	0.083	Cpg1	9	106222598-106226883 bp (+)	106225007	Unknown (3;0)	no linkage results	2021-10-28 Stephen Lyon	immune system MCMV susceptibility response to injected CpG DNA - decreased TLR signaling defect: TNF production by macrophages	T ⇒ C	missense		probably damaging	1.000
50	Tlr9	0.083	Cpg11	9	106222598-106226883 bp (+)	106224586	Unknown (1;0)	no linkage results	2021-10-28 Stephen Lyon	TLR signaling defect: TNF production by macrophages	T ⇒ C	missense		probably damaging	0.999
51	Adamts20	0.139	whopper	15	94270163-94465418 bp (-)	94347810	Autosomal Recessive (1;6)	0.512	2021-10-21 Diantha La Vine	pigmentation skin/coat/nails	C ⇒ A	missense		probably damaging	1.000
52	Adamts20	0.139	wash	15	94270163-94465418 bp (-)	94347670	Autosomal Recessive (1;7)	0.629	2021-10-21 Diantha La Vine	pigmentation skin/coat/nails	C ⇒ A	nonsense		probably null
53	Adamts20	0.139	splotch2	15	94270163-94465418 bp (-)	94335561	Unknown	no linkage results	2021-10-21 Diantha La Vine	pigmentation skin/coat/nails	A ⇒ T	intron	8 bp	probably benign
54	Adamts20	0.139	poliwag	15	94270163-94465418 bp (-)	94394622	Autosomal Recessive (1;4)	0.565	2021-10-21 Diantha La Vine	pigmentation skin/coat/nails	A ⇒ T	nonsense		probably null
55	Adamts20	0.139	pikachu	15	94270163-94465418 bp (-)	94345990	Autosomal Recessive (1;1)	failed initial filter	2021-10-21 Diantha La Vine	pigmentation skin/coat/nails	A ⇒ T	missense		probably damaging	1.000
56	Adamts20	0.139	panda	15	94270163-94465418 bp (-)	94326699	Unknown	no linkage results	2021-10-21 Diantha La Vine	pigmentation skin/coat/nails	G ⇒ T	intron		probably benign
57	Adamts20	0.139	meowth	15	94270163-94465418 bp (-)	94331458	Autosomal Recessive (1;1)	failed initial filter	2021-10-21 Diantha La Vine	pigmentation skin/coat/nails	A ⇒ C	missense		probably damaging	1.000
58	Adamts20	0.139	nidoking	15	94270163-94465418 bp (-)	94403445	Autosomal Recessive (1;12)	0.580	2021-10-21 Diantha La Vine	pigmentation skin/coat/nails	C ⇒ T	missense		probably damaging	0.999
59	Adamts20	0.139	jack_white	15	94270163-94465418 bp (-)		Unknown	no linkage results	2021-10-19 Diantha La Vine	pigmentation skin/coat/nails		unclassified
60	Adamts20	0.139	buckeye	15	94270163-94465418 bp (-)	94341087	Unknown (1;0)	failed initial filter	2021-10-19 Diantha La Vine	pigmentation skin/coat/nails	C ⇒ T	missense		probably damaging	0.999
61	Adam17	0.929	wavedx	12	21323509-21373632 bp (-)	21340750	Unknown	no linkage results	2021-10-19 Diantha La Vine	skin/coat/nails vision/eye	A ⇒ T	missense		probably damaging	1.000
62	a	0.180	killer_whale	2	154791402-155051012 bp (+)		Unknown	no linkage results	2021-10-06 Diantha La Vine	pigmentation skin/coat/nails		unclassified
63	a	0.180	garfield	2	154791402-155051012 bp (+)		Unknown	no linkage results	2021-10-06 Diantha La Vine	pigmentation skin/coat/nails		unclassified
64	a	0.180	yellowbelly	2	154791402-155051012 bp (+)		Unknown	no linkage results	2021-10-06 Diantha La Vine	pigmentation skin/coat/nails		unclassified
65	Ctsl	1.000	patch	13	64359337-64370890 bp (-)	64366623	Autosomal Recessive (14;269) Autosomal Semidominant (5;26)	0.976	2021-09-24 External Program	FACS B1 cells - decreased FACS B1a cells - decreased FACS B1a cells in B1 cells - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - decreased FACS CD44+ CD8 T cells - increased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - decreased FACS naive CD8 T cells in CD8 T cells - increased FACS T cells - decreased skin/coat/nails	T ⇒ A	nonsense		probably null
66	Irf1	0.000	Endeka2	11	53770014-53778374 bp (+)	53771322	Autosomal Recessive (5;56) Autosomal Semidominant (11;53)	0.802	2021-02-25 External Program	FACS B1 cells - increased FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS CD4+ T cells in CD3+ T cells - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - decreased FACS central memory CD8 T cells in CD8 T cells - decreased FACS NK cells - decreased	C ⇒ G	missense		probably damaging	1.000
67	Atm	0.913	Tropo	9	53439149-53536740 bp (-)	53531648	Unknown (2;0)	no linkage result	2020-12-09 External Program		A ⇒ G	missense		probably damaging	1.000
68	Stk4	0.000	Sergeant	2	164070322-164155524 bp (+)	164099712	Autosomal Recessive (2;10) Autosomal Semidominant (2;8)	0.934	2020-07-29 External Program	FACS B cells - increased FACS B:T cells - increased FACS B1a cells in B1 cells - decreased FACS B1b cells in B1 cells - increased FACS B220 MFI - decreased FACS CD11b+ DCs (gated in CD11c+ cells) - increased FACS CD4:CD8 - increased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 MFI - increased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - decreased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - decreased FACS IgM+ B cells - increased FACS macrophages - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS NK cells - increased FACS T cells - decreased T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization Total IgE After 2nd OVA/Alum Challenge (day 7) - increased	A ⇒ G	missense		probably benign	0.000
69	Rac2	0.000	Potter	15	78559167-78572783 bp (-)	78570743	Autosomal Recessive (5;26) Autosomal Semidominant (2;11)	0.867	2020-07-29 External Program	FACS B cells - decreased FACS B1a cells in B1 cells - decreased FACS B1b cells in B1 cells - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS neutrophils - increased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ T	nonsense		probably null
70	Tap2	0.156	Palm	17	34203527-34216321 bp (+)	34215940	Autosomal Recessive (1;7) Autosomal Semidominant (1;5)	0.400	2020-07-29 External Program	FACS CD4+ T cells - increased NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	C ⇒ A	missense		possibly damaging	0.638
71	Ebf1	0.904	Oregano	11	44617317-45008091 bp (+)	44869169	Autosomal Recessive (14;96) Autosomal Semidominant (4;22)	0.955	2020-07-29 External Program	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS B1a cells - increased FACS B1a cells in B1 cells - increased FACS B1b cells - increased FACS B2 cells - decreased FACS CD4+ T cells - increased FACS CD8+ T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS T cells - increased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization TLR signaling defect: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages	T ⇒ C	missense		probably damaging	1.000
72	Mbtps1	1.000	Muskrat	8	119508156-119558735 bp (-)	119538137	Autosomal Dominant (2;2) Autosomal Recessive (2;9)	failed initial filter	2020-07-29 External Program	pigmentation skin/coat/nails	G ⇒ A	missense		probably damaging	1.000
73	Bcl3	0.000	Memorial	7	19808462-19822770 bp (-)	19812484	Autosomal Recessive (1;5) Autosomal Semidominant (1;4)	0.317	2020-07-29 External Program	FACS central memory CD8 T cells in CD8 T cells - increased	T ⇒ A	missense		probably damaging	1.000
74	Ifngr1	0.000	Marigold	10	19591949-19610229 bp (+)	19601485	Unknown (1;0) Autosomal Dominant (3;12), Autosomal Recessive (2;14)	0.387	2020-07-29 External Program	FACS IgD+ B cell percentage - increased FACS IgM+ B cells - increased FACS macrophages - decreased TLR signaling defect: hyposensitivity to poly I:C + IFNg TLR signaling defect: TNF production by macrophages	T ⇒ C	critical splice donor site		probably null
75	Pax5	1.000	Glacier	4	44524757-44710487 bp (-)	44679494	Autosomal Recessive (2;21) Autosomal Semidominant (1;7)	0.875	2020-07-29 External Program	FACS B1 cells - increased FACS B1a cells in B1 cells - decreased FACS B1b cells in B1 cells - decreased	T ⇒ A	missense		probably damaging	0.996
76	Tmprss6	0.076	Ekans	15	78439667-78468634 bp (-)	78459427	Autosomal Recessive (1;10) Autosomal Semidominant (1;4)	0.436	2020-07-29 External Program	FACS T cells - decreased skin/coat/nails	T ⇒ A	splice site		probably null
77	Prkdc	0.949	Daffy	16	15637866-15842235 bp (+)	15829697	Autosomal Semidominant (1;4)	0.554	2020-07-29 External Program	FACS CD44+ CD4 MFI - increased	A ⇒ T	missense		possibly damaging	0.861
78	Tlr4	0.000	Cruyff	4	66827584-66930284 bp (+)	66840326	Autosomal Recessive (3;31) Autosomal Semidominant (3;16)	0.941	2020-07-29 External Program	LPS-induced Necroptosis - decreased Macrophage necroptosis: low NALP3 inflammasome signaling defect NLRP3 inflammasome: low response TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages	T ⇒ A	missense		probably damaging	1.000
79	Pik3r1	0.000	Astro_boy	13	101680563-101768217 bp (-)	101701732	Autosomal Recessive (2;12) Autosomal Semidominant (1;4)	0.123	2020-07-29 External Program	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS B220 MFI - decreased FACS CD11b+ DCs (gated in CD11c+ cells) - increased FACS CD4+ T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased IgE response to a Cysteine Protease (Papain) - increased resistance to B10-F16 melanoma - decreased	A ⇒ T	missense		probably damaging	1.000
80	Inpp5d	0.901	styx	1	87620312-87720507 bp (+)	87669784	Unknown (1;0)	no linkage results	2020-06-05 Thomas Gallagher	CTL killing - decreased growth/size hematopoietic system homeostasis/metabolism immune system life span-post-weaning/aging respiratory system	T ⇒ A	critical splice donor site	2 bp	probably benign
81	Inpp5d	0.901	sailing	1	87620312-87720507 bp (+)	87705964	Autosomal Dominant (2;10) Autosomal Recessive (3;21)	0.888	2020-06-05 Thomas Gallagher	125-03 Response - increased FACS IgM MFI - decreased FACS NK cells - decreased LPS-induced Necroptosis - decreased Macrophage necroptosis: low TLR signaling defect: hypersensitivity to PAM3CSK4 TLR signaling defect: TNF production by macrophages	A ⇒ G	missense		probably damaging	1.000
82	Inpp5d	0.901	Orange	1	87620312-87720507 bp (+)	87697546	Autosomal Dominant (3;10) Autosomal Semidominant (4;19)	0.885	2020-06-05 Thomas Gallagher	FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B2 cells - decreased FACS CD11c+ DCs - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased	G ⇒ A	critical splice donor site	1 bp	probably null
83	Inpp5d	0.901	pantone	1	87620312-87720507 bp (+)	87699675	Autosomal Recessive (106;872) Autosomal Semidominant (4;27)	0.978	2020-05-29 Thomas Gallagher	Body Weight - decreased Body Weight (BP, z-score, female) - decreased Body Weight (BP, z-score, male) - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased Body Weight (Z-score, female) - decreased Body Weight (Z-score, male) - decreased Bone: Femur Length (AI, residual) - decreased Bone: Femur Length (AI, residual, female) - decreased Bone: Femur Length (AI, residual, male) - decreased Bone: Fore Hip Distance (AI) - decreased Bone: Fore Hip Distance (AI, female) - decreased Bone: Fore Hip Distance (AI, male) - decreased Bone: Hind Hip Distance (AI) - decreased Bone: Hind Hip Distance (AI, female) - decreased Bone: Hind Hip Distance (AI, male) - decreased Bone: Pelvis Length (AI, residual) - decreased Bone: Pelvis Length (AI, residual, female) - decreased Bone: Pelvis Length (AI, residual, male) - decreased Bone: Tibia Length (AI, residual) - decreased Bone: Tibia Length (AI, residual, female) - decreased Bone: Tibia Length (AI, residual, male) - decreased FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - increased FACS B220 MFI - increased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS NK cells - decreased FACS NK1.1+ T cells - decreased FACS T cells - decreased	T ⇒ A	missense		probably damaging	0.999
84	Inpp5d	0.901	americas	1	87620312-87720507 bp (+)	87715142	Autosomal Recessive (4;49)	0.541	2020-05-29 Thomas Gallagher	dsDNA induced type I IFN production - increased impaired response to dsDNA- type I IFN production by macrophages TLR signaling defect: hypersensitivity to PAM3CSK4 TLR signaling defect: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages	C ⇒ A	missense		probably damaging	0.998
85	Pik3r1	0.000	anubis	13	101680563-101768217 bp (-)	101702776	Unknown (3;0) Autosomal Recessive (9;54), Autosomal Semidominant (1;4)	0.977	2020-02-14 External Program	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS B220 MFI - decreased FACS CD11b+ DCs (gated in CD11c+ cells) - increased FACS CD4+ T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased IgE response to a Cysteine Protease (Papain) - increased OVA-specific IgE - increased	A ⇒ T	nonsense		probably null
86	Jak3	0.698	thistle	8	71676296-71690575 bp (+)	71685383	Unknown (2;0) Autosomal Recessive (32;317), Autosomal Semidominant (1;4)	0.975	2020-01-15 Eva Marie Y. Moresco	Body Weight (DSS Female) - decreased Body Weight (DSS, z-score, female) - decreased FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS CD11b+ DCs (gated in CD11c+ cells) - decreased FACS CD11c+ DCs - increased FACS CD4:CD8 - increased FACS CD4+ T cells - decreased FACS CD44+ CD4 T cells - decreased FACS CD44+ T cells - decreased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - decreased FACS CD8a+ DCs (gated in CD11c+ cells) - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS macrophages - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS NK cells - decreased FACS NK1.1+ T cells - decreased FACS T cells - decreased IgE response to a Cysteine Protease (Papain) - decreased IgG1 response to a Cysteine Protease (Papain) - decreased impaired response to dsDNA- type I IFN production by macrophages ratio of OVA-specific IgE over the total IgE - increased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization total IgE level - decreased	A ⇒ T	critical splice acceptor site		probably null
87	Syk	1.000	Sisyphus	13	52583173-52648792 bp (+)	52640790	Unknown (4;0) Autosomal Dominant (1;6)	0.232	2020-01-15 Eva Marie Y. Moresco	FACS B cells - increased IgE response to a Cysteine Protease (Papain) - increased	A ⇒ G	missense		probably damaging	1.000
88	Lig4	1.000	posey	8	9969049-9977686 bp (-)	9972955	Autosomal Recessive (16;134) Autosomal Semidominant (2;8)	0.977	2019-12-05 External Program	FACS B cells - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - decreased FACS IgM+ B cells - decreased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS NK cells - increased FACS T cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization	T ⇒ C	missense		probably damaging	1.000
89	Cd4	0.000	craw	6	124864692-124888221 bp (-)	124867746	Unknown (7;0)	no linkage results	2019-11-12 Bruce Beutler	FACS CD4+ T cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV	G ⇒ A	nonsense		probably null
90	Pparg	1.000	Energy	6	115360951-115490399 bp (+)	115451044	Unknown (4;0) Autosomal Dominant (4;15)	0.347	2019-11-06 Bruce Beutler	Body Weight - decreased Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased growth/size	G ⇒ T	missense		probably damaging	1.000
91	Elmo1	0.000	Debil	13	20090596-20608353 bp (+)	20373161	Autosomal Dominant (2;10) Autosomal Recessive (2;11), Autosomal Semidominant (3;11)	0.805	2019-10-29 Diantha La Vine	FACS B220 MFI - decreased FACS CD4:CD8 - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - decreased FACS effector memory CD4 T cells in CD4 T cells - increased FACS NK cells - decreased	T ⇒ C	missense		probably damaging	1.000
92	Ryr2	1.000	Arruda2	13	11553102-12106945 bp (-)	11879496	Autosomal Recessive (4;16) Autosomal Semidominant (3;23)	no linkage result	2019-10-29 Anne Murray		G ⇒ T	missense		probably damaging	0.998
93	Klhl6	0.075	cerulean	16	19946496-19983037 bp (-)	19957218	Autosomal Recessive (8;130) Autosomal Semidominant (6;41)	0.935	2019-10-25 Bruce Beutler	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - increased FACS B220 MFI - decreased FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 MFI - decreased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - decreased FACS central memory CD4 T cells in CD4 T cells - decreased FACS IgM+ B cells - decreased FACS T cells - increased total IgE level - increased	G ⇒ A	nonsense		probably null
94	Il2rb	0.113	Whistles	15	78479256-78495271 bp (-)	78481936	Autosomal Dominant (1;3) Autosomal Recessive (2;8), Autosomal Semidominant (5;21)	0.667	2019-10-23 Diantha La Vine	DSS: sensitive day 10 TLR signaling defect: hyposensitivity to LPS TLR signaling defect: hyposensitivity to PAM3CSK4 TLR signaling defect: hyposensitivity to R848 TLR signaling defect: TNF production by macrophages total IgE level - increased	T ⇒ A	missense		possibly damaging	0.721
95	Myo15	0.000	Typhoon	11	60469339-60528369 bp (+)	60487425	Autosomal Dominant (1;7) Autosomal Recessive (1;5)	0.143	2019-10-23 Anne Murray	behavior/neurological NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	G ⇒ A	critical splice donor site		probably null
96	Pcdh15	0.000	Tortilla	10	73099342-74649737 bp (+)	74379417	Autosomal Recessive (2;10) Autosomal Semidominant (2;9)	0.528	2019-10-23 Diantha La Vine	behavior/neurological FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased OVA-specific IgE after 2nd OVA/Alum - increased	G ⇒ T	splice site		probably null
97	Prkcd	0.362	Rigged	14	30595354-30626210 bp (-)	30610301	Autosomal Recessive (1;5) Autosomal Semidominant (2;9)	0.885	2019-10-23 Diantha La Vine	DSS: sensitive day 10 DSS: sensitive day 7 FACS NK cells - decreased	A ⇒ G	start codon destroyed		probably null	0.988
98	Syk	1.000	Poppy	13	52583173-52648792 bp (+)	52640733	Unknown (2;0) Autosomal Dominant (2;2), Autosomal Recessive (2;2), Autosomal Semidominant (1;3)	failed initial filter	2019-10-23 Anne Murray	FACS B cells - decreased TLR signaling defect: hypersensitivity to LPS TLR signaling defect: hypersensitivity to MALP2 TLR signaling defect: hypersensitivity to R848 TLR signaling defect: hyposensitivity to R848 TLR signaling defect: TNF production by macrophages	A ⇒ G	missense		probably damaging	1.000
99	Prkce	0.000	Pinnacles	17	86167785-86657919 bp (+)	86476851	Autosomal Semidominant (1;5)	0.033	2019-10-23 Anne Murray	FACS NK cells - decreased	C ⇒ T	missense		probably damaging	0.997
100	Dst	0.282	Phelps	1	33908225-34308661 bp (+)	34223795	Autosomal Semidominant (1;1)	failed initial filter	2019-10-23 Anne Murray	behavior/neurological FACS B1a cells in B1 cells - increased FACS CD11c+ DCs - increased growth/size	T ⇒ A	splice site	9 bp	probably null
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