Mutagenetix > Phenotypic Mutations

Phenotypic Mutations

518 mutations affecting 270 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 519] per page Full List
		~						Verification Probability		Phenotypic Category and and and	⇒
1	Bcl10	0.000	Derek	3	145922804-145934356 bp (+)	145930587	Autosomal Dominant (1;4) Autosomal Recessive (14;151), Autosomal Semidominant (2;11)	0.901	2021-03-22 External Program	DSS: sensitive day 7 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
2	Gys2	0.263	candy_corn	6	142422613-142473109 bp (-)	142456333	Autosomal Recessive (2;13)	0.035	2021-03-22 External Program	30 min GTT hyperoglycemic (female)	T ⇒ C	missense	probably benign	0.001
3	Irf1	0.000	Endeka2	11	53770014-53778374 bp (+)	53771322	Autosomal Recessive (5;56) Autosomal Semidominant (15;69)	0.883	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
4	Atm	0.893	Tropo	9	53439149-53536740 bp (-)	53531648	Unknown (2;0)	no linkage result	2020-12-09 External Program		A ⇒ G	missense	probably damaging	1.000
5	Stk4	0.000	Sergeant	2	164070322-164155524 bp (+)	164099712	Autosomal Recessive (2;10) Autosomal Semidominant (2;8)	0.893	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
6	Pi4ka	1.000	Pia	16	17280351-17406314 bp (-)	17281044	Autosomal Recessive (3;18) Autosomal Semidominant (3;12)	0.424	2020-07-29 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
7	Tap2	0.173	Palm	17	34203527-34216321 bp (+)	34215940	Autosomal Recessive (1;7) Autosomal Semidominant (1;5)	0.469	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
8	Ebf1	0.904	Oregano	11	44617317-45008091 bp (+)	44869169	Autosomal Recessive (15;100) Autosomal Semidominant (4;22)	0.963	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
9	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
10	Bcl3	0.000	Memorial	7	19808462-19822770 bp (-)	19812484	Autosomal Recessive (1;5) Autosomal Semidominant (1;4)	0.521	2020-07-29 External Program	FACS central memory CD8 T cells in CD8 T cells - increased	T ⇒ A	missense	probably damaging	1.000
11	Pax5	1.000	Glacier	4	44524757-44710487 bp (-)	44679494	Autosomal Recessive (3;25) Autosomal Semidominant (1;7)	0.916	2020-07-29 External Program	FACS B1 cells - increased FACS B1a cells in B1 cells - decreased FACS B1b cells in B1 cells - decreased FACS CD8a+ DCs (gated in CD11c+ cells) - increased	T ⇒ A	missense	probably damaging	0.996
12	Prkdc	0.947	Daffy	16	15637866-15842235 bp (+)	15829697	Autosomal Recessive (2;9) Autosomal Semidominant (1;4)	0.683	2020-07-29 External Program	Body Weight (Female) - increased FACS CD44+ CD4 MFI - increased	A ⇒ T	missense	possibly damaging	0.861
13	Tlr4	0.000	Cruyff	4	66827584-66930284 bp (+)	66840326	Autosomal Recessive (3;31) Autosomal Semidominant (3;16)	0.947	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
14	Pik3r1	0.000	Astro_boy	13	101680563-101768217 bp (-)	101701732	Autosomal Recessive (2;12) Autosomal Semidominant (1;4)	0.136	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
15	Dck	0.000	rosa	5	88764996-88783281 bp (+)	88772723	Autosomal Recessive (19;119)	0.990	2020-07-01 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
16	Inpp5d	0.887	sailing	1	87620312-87720507 bp (+)	87705964	Autosomal Dominant (2;10) Autosomal Recessive (3;21)	0.941	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
17	Inpp5d	0.887	pantone	1	87620312-87720507 bp (+)	87699675	Autosomal Recessive (57;442) Autosomal Semidominant (3;25)	0.961	2020-05-29 Thomas Gallagher	Body Weight - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - 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
18	Inpp5d	0.887	americas	1	87620312-87720507 bp (+)	87715142	Autosomal Recessive (1;8)	0.350	2020-05-29 Thomas Gallagher	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
19	Smcr8	0.000	patriot	11	60777524-60788287 bp (+)	60778032	Autosomal Recessive (6;34) Autosomal Semidominant (1;6)	0.978	2020-02-04 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 TLR signaling defect: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages	T ⇒ C	missense	probably damaging	1.000
20	Syk	1.000	Sisyphus	13	52583173-52648792 bp (+)	52640790	Unknown (4;0) Autosomal Dominant (1;6)	0.243	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
21	Lig4	1.000	posey	8	9969049-9977686 bp (-)	9972955	Autosomal Recessive (16;134) Autosomal Semidominant (2;8)	0.987	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
22	Pparg	1.000	Energy	6	115360951-115490399 bp (+)	115451044	Unknown (4;0) Autosomal Dominant (5;20)	0.273	2019-11-06 Bruce Beutler	Body Weight - decreased Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased Body Weight (Z-score) - decreased growth/size	G ⇒ T	missense	probably damaging	1.000
23	Elmo1	0.000	Debil	13	20090596-20608353 bp (+)	20373161	Autosomal Dominant (2;10) Autosomal Recessive (1;7), Autosomal Semidominant (3;11)	0.823	2019-10-29 Diantha La Vine	FACS B220 MFI - decreased FACS CD4:CD8 - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS NK cells - decreased	T ⇒ C	missense	probably damaging	1.000
24	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
25	Il2rb	0.094	Whistles	15	78479256-78495271 bp (-)	78481936	Autosomal Dominant (1;3) Autosomal Recessive (2;8), Autosomal Semidominant (5;21)	0.547	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
26	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
27	Prkce	0.000	Pinnacles	17	86167785-86657919 bp (+)	86476851	Autosomal Semidominant (1;5)	0.034	2019-10-23 Anne Murray	FACS NK cells - decreased	C ⇒ T	missense	probably damaging	0.997
28	Zbtb1	0.742	Old_friend	12	76370266-76396950 bp (+)	76385891	Autosomal Recessive (1;6) Autosomal Semidominant (2;10)	0.070	2019-10-23 Anne Murray	FACS CD44+ CD8 MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS NK1.1+ T cells - increased	C ⇒ T	missense	probably damaging	0.965
29	Ptpn6	0.555	Naphthalene	6	124720707-124738714 bp (-)	124721789	Autosomal Dominant (1;5) Autosomal Recessive (1;4), Autosomal Semidominant (1;5)	0.210	2019-10-23 Anne Murray	FACS CD4:CD8 - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ T MFI - increased	T ⇒ C	missense	probably benign	0.423
30	Trpc1	0.151	Magnified	9	95705082-95750375 bp (-)	95726437	Autosomal Recessive (6;28) Autosomal Semidominant (5;29)	0.474	2019-10-23 Diantha La Vine	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased	T ⇒ C	missense	probably damaging	1.000
31	Nlrc4	0.131	Inwood	17	74426295-74459108 bp (-)	74445630	Autosomal Semidominant (1;3)	failed initial filter	2019-10-23 Peter Jurek	Nlrc4 inflammasome: low response	A ⇒ G	missense	probably damaging	0.999
32	Rab38	0.639	Fenrir	7	88430273-88491572 bp (+)	88450541	Autosomal Semidominant (1;5)	0.547	2019-10-23 Anne Murray	pigmentation skin/coat/nails	T ⇒ A	missense	probably damaging	0.995
33	Hps3	0.172	Blue	3	19995945-20035315 bp (-)	20030796	Autosomal Semidominant (1;1)	failed initial filter	2019-10-23 Anne Murray	pigmentation skin/coat/nails	A ⇒ C	missense	probably damaging	1.000
34	Ryr2	1.000	Arruda3	13	11553102-12106945 bp (-)	11555448	Autosomal Dominant (1;4)	no linkage result	2019-10-23 Anne Murray		T ⇒ A	missense	possibly damaging	0.907
35	Cd8a	0.062	Alfalfa	6	71373427-71379173 bp (+)	71373728	Autosomal Dominant (1;4) Autosomal Recessive (7;49), Autosomal Semidominant (7;68)	0.857	2019-10-23 Anne Murray	FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD8 MFI - 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 - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD8 T cells in CD8 T cells - decreased MCMV susceptibility post-MCMV FACS CD4+ T cells in CD3+ T cells - increased post-MCMV FACS CD44+ CD8 MFI - increased post-MCMV FACS CD8+ T cells - decreased post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased	T ⇒ A	missense	probably damaging	0.989
36	Prkcb	0.000	tigris	7	122288751-122634402 bp (+)	122424977	Autosomal Recessive (2;9) Autosomal Semidominant (1;4)	0.932	2019-10-14 Diantha La Vine	FACS CD8+ T cells - increased FACS T cells - increased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	A ⇒ T	missense	probably damaging	1.000
37	Ptpn6	0.555	farfalla_notturna	6	124720707-124738714 bp (-)	124732435	Autosomal Recessive (17;126)	0.964	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B1 cells - increased FACS CD4:CD8 - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - 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 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	T ⇒ C	missense	probably damaging	1.000
38	Zeb1	0.919	serpens	18	5591860-5775467 bp (+)	5772455	Autosomal Recessive (1;3)	failed initial filter	2019-09-04 Anne Murray	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	T ⇒ A	missense	probably damaging	0.998
39	Slc9a8	0.000	costello	2	167421712-167477000 bp (+)	167451296	Autosomal Recessive (1;5)	0.389	2019-09-04 External Program	DSS: sensitive day 7	T ⇒ A	missense	probably damaging	1.000
40	Jak3	0.721	mount_tai	8	71676296-71690575 bp (+)	71683377	Autosomal Recessive (28;212) Autosomal Semidominant (3;15)	0.970	2019-09-04 Diantha La Vine	125-03 Response - decreased FACS B cells - decreased 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 effector memory CD4 T cells in CD4 T 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 CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS NK cells - decreased FACS T cells - decreased MCMV susceptibility OVA-specific IgE - increased post-MCMV FACS B cells - decreased post-MCMV FACS CD11c+ DCs - decreased post-MCMV FACS CD4:CD8 - increased post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased post-MCMV FACS IgD+ B cell percentage - decreased post-MCMV FACS IgM+ B cells - decreased post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization total IgE level - increased	A ⇒ G	missense	probably damaging	1.000
41	Insr	0.839	gummi_bear	8	3122061-3279617 bp (-)	3161770	Autosomal Recessive (2;10) Autosomal Semidominant (1;2)	0.818	2019-09-04 Diantha La Vine	DSS: sensitive day 10 DSS: sensitive day 7 FACS neutrophils - increased	A ⇒ G	missense	probably damaging	1.000
42	Rac2	0.000	bingo	15	78559167-78572783 bp (-)	78564968	Autosomal Recessive (1;6)	0.920	2019-09-04 Anne Murray	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	T ⇒ C	missense	probably damaging	1.000
43	Arnt2	1.000	Arnold2	7	84246278-84410176 bp (-)	84347530	Autosomal Dominant (3;4) Autosomal Semidominant (3;17)	0.985	2019-09-04 External Program	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - 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
44	Nlrp3	0.101	Park3	11	59541568-59566956 bp (+)	59565850	Autosomal Semidominant (1;3)	failed initial filter	2019-09-04 Diantha La Vine	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	A ⇒ G	missense	probably benign	0.017
45	Rorb	0.000	dee-no	19	18930605-19111196 bp (-)	18955053	Unknown	no linkage result	2019-09-04 Anne Murray		A ⇒ G	missense	probably damaging	1.000
46	Scn8a	0.804	nymph	15	100869858-101045938 bp (+)	101035646	Unknown (1;0) Autosomal Recessive (1;5)	0.235	2019-09-04 Anne Murray	behavior/neurological Body Weight - decreased growth/size	A ⇒ G	missense	probably damaging	1.000
47	Adgrf5	0.000	sweetie	17	43360451-43459557 bp (+)	43450983	Autosomal Recessive (1;5)	0.049	2019-09-04 Diantha La Vine	30 min GTT hyperglycemic	A ⇒ T	missense	probably damaging	0.957
48	Apbb2	0.000	bund	5	66298703-66618784 bp (-)	66400255	Autosomal Recessive (1;3)	failed initial filter	2019-09-04 External Program	30 min GTT hyperglycemic 30 min GTT hyperglycemic (male)	T ⇒ A	missense	probably damaging	0.996
49	Pkd2	1.000	Nephro	5	104459450-104505819 bp (+)	104486806	Unknown (1;0)	failed initial filter	2019-09-04 Anne Murray	renal/urinary system	T ⇒ A	missense	probably damaging	1.000
50	Sppl2a	0.081	abra	2	126890391-126933235 bp (-)	126923594	Autosomal Recessive (3;13)	0.886	2019-09-04 Katherine Timer	Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	A ⇒ G	missense	probably benign	0.002
51	Nr3c2	1.000	naughty	8	76899442-77245012 bp (+)	76908668	Autosomal Recessive (1;5)	0.094	2019-09-04 Bruce Beutler	Body Weight - decreased growth/size	A ⇒ G	splice site	probably null
52	Nlrp3	0.101	Park4	11	59541568-59566956 bp (+)	59549531	Autosomal Dominant (1;9) Autosomal Semidominant (1;6)	0.868	2019-09-04 Diantha La Vine	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	A ⇒ G	missense	probably benign	0.190
53	Tyr	0.197	rufus	7	87424771-87493512 bp (-)	87492706	Autosomal Recessive (1;3)	failed initial filter	2019-09-04 Anne Murray	pigmentation skin/coat/nails	C ⇒ A	missense	probably damaging	1.000
54	Adamts20	0.164	pikachu	15	94270163-94465418 bp (-)	94345990	Autosomal Recessive (1;1)	failed initial filter	2019-09-04 Diantha La Vine	pigmentation skin/coat/nails	A ⇒ T	missense	probably damaging	1.000
55	Syt2	0.080	kringle	1	134646677-134762593 bp (+)	134747620	Autosomal Recessive (1;3) Autosomal Semidominant (1;1)	failed initial filter	2019-09-04 Anne Murray	behavior/neurological Body Weight - decreased growth/size lethality-postnatal nervous system	C ⇒ A	missense	probably damaging	0.998
56	Prkcb	0.000	Almonde	7	122288751-122634402 bp (+)	122582449	Autosomal Recessive (1;5) Autosomal Semidominant (6;43)	0.955	2019-09-04 Diantha La Vine	FACS B1 cells - decreased FACS B1a cells in B1 cells - decreased FACS IgM MFI - increased post-MCMV FACS B1a cells in B1 cells - decreased post-MCMV FACS B1b cells in B1 cells - increased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization TLR signaling defect: hyposensitivity to poly I:C TLR signaling defect: TNF production by macrophages	T ⇒ A	missense	probably damaging	1.000
57	Lepr	0.000	paleo	4	101717404-101815352 bp (+)	101745645	Autosomal Recessive (10;147)	0.933	2019-09-04 Diantha La Vine	adipose tissue Body Weight - increased Body Weight (DSS Female) - increased Body Weight (DSS Male) - increased Body Weight (DSS) - increased Body Weight (DSS, z-score) - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased FACS macrophages - increased growth/size	T ⇒ A	missense	possibly damaging	0.938
58	Nfkb2	0.592	pale_fire	19	46304737-46312090 bp (+)	46311626	Unknown (1;0) Autosomal Recessive (1;4)	0.087	2019-09-04 Diantha La Vine	FACS B1a cells - increased	A ⇒ T	missense	possibly damaging	0.956
59	Nlrp3	0.101	Park5	11	59541568-59566956 bp (+)	59548476	Autosomal Semidominant (2;11)	0.938	2019-09-04 Diantha La Vine	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	T ⇒ A	missense	probably damaging	0.991
60	Gck	1.000	Grahamcracker	11	5900820-5950081 bp (-)	5902165	Autosomal Recessive (2;8) Autosomal Semidominant (1;4)	failed initial filter	2019-09-04 Katherine Timer	30 min GTT hyperglycemic 30 min GTT hyperoglycemic (female)	A ⇒ T	missense	probably damaging	1.000
61	Tnfsf13b	0.096	Applecrisp	8	10006467-10039072 bp (+)	10031534	Autosomal Recessive (1;1) Autosomal Semidominant (1;5)	0.958	2019-09-04 Diantha La Vine	FACS B:T cells - decreased T-dependent humoral response defect- decreased antibody response to rSFV	T ⇒ C	missense	probably damaging	1.000
62	Irf7	0.000	Houstonian	7	141262706-141266481 bp (-)	141264022	Autosomal Recessive (1;4)	0.287	2019-09-04 Anne Murray	Nlrc4 inflammasome: high response	T ⇒ C	missense	probably damaging	0.992
63	Lyst	0.299	Swallow	13	13590397-13778803 bp (+)	13757422	Autosomal Semidominant (2;11)	0.046	2019-09-04 Diantha La Vine	125-03 Response - decreased phagocytosis in PECs - increased	T ⇒ C	missense	probably benign	0.004
64	Lck	0.000	lockdown	4	129548344-129573641 bp (-)	129558127	Autosomal Recessive (13;68) Autosomal Semidominant (2;8)	0.955	2019-09-04 Katherine Timer	DSS: resistant day 10 DSS: sensitive day 7 FACS B:T cells - 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 - 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 post-MCMV FACS CD4:CD8 - decreased post-MCMV FACS CD4+ T cells - decreased post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased post-MCMV FACS CD8+ T cells in CD3+ T cells - increased post-MCMV FACS T cells - decreased T-dependent humoral response defect- decreased antibody response to rSFV	C ⇒ T	missense	probably damaging	1.000
65	Nos3	0.000	paul	5	24364810-24384474 bp (+)	24372704	Autosomal Recessive (2;8)	0.210	2019-09-04 Diantha La Vine	DSS: sensitive day 7 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization	C ⇒ T	missense	probably damaging	1.000
66	Adamts20	0.164	buckeye	15	94270163-94465418 bp (-)	94341087	Unknown (1;0)	failed initial filter	2019-09-04 Diantha La Vine	pigmentation skin/coat/nails	C ⇒ T	missense	probably damaging	0.999
67	Mc4r	0.090	chubby	18	66857715-66860472 bp (-)	66859847	Autosomal Recessive (5;32)	0.891	2019-09-04 Diantha La Vine	adipose tissue Body Weight - increased Body Weight (DSS) - increased Body Weight (DSS, z-score) - increased Body Weight (Z-score) - increased growth/size	A ⇒ T	missense	probably damaging	0.999
68	Hr	0.000	yuanxiao	14	70552212-70573548 bp (+)	70571448	Autosomal Recessive (1;4)	0.383	2019-09-04 Diantha La Vine	Body Weight (DSS Male) - decreased DSS: sensitive day 10 DSS: sensitive day 7 FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B1a cells in B1 cells - decreased FACS B1b cells - increased FACS B1b cells in B1 cells - increased FACS B2 cells - decreased 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+ CD8 T cells - decreased FACS CD44+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS macrophages - increased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS T cells - decreased skin/coat/nails	G ⇒ A	missense	probably damaging	1.000
69	Lyst	0.299	lightspeed	13	13590397-13778803 bp (+)	13740536	Autosomal Recessive (1;5)	0.312	2019-09-04 Diantha La Vine	MCMV susceptibility	T ⇒ C	missense	possibly damaging	0.908
70	Ksr2	0.102	gigante	5	117414000-117775003 bp (+)	117671449	Unknown (1;0) Autosomal Recessive (5;22)	0.637	2019-09-04 Anne Murray	Body Weight - increased Body Weight (Female) - increased Body Weight (Z-score) - increased growth/size impaired response to dsDNA- type I IFN production by macrophages	T ⇒ A	missense	probably damaging	0.994
71	Rhbdf2	0.000	Lostnf2	11	116598165-116627019 bp (-)	116600191	Autosomal Semidominant (7;57)	0.926	2019-09-04 Katherine Timer	125-03 Response - decreased 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	A ⇒ T	missense	possibly damaging	0.936
72	Adamts20	0.164	Meowth	15	94270163-94465418 bp (-)	94331458	Autosomal Recessive (1;1)	failed initial filter	2019-09-04 Diantha La Vine	pigmentation skin/coat/nails	A ⇒ C	missense	probably damaging	1.000
73	Atp2b2	0.907	lohan	6	113743831-114042613 bp (-)	113760650	Autosomal Recessive (2;6)	0.340	2019-09-04 Diantha La Vine	behavior/neurological Body Weight - decreased hearing/vestibular/ear	A ⇒ G	missense	probably damaging	1.000
74	Ccr7	0.281	lanzhou	11	99144196-99155077 bp (-)	99145277	Autosomal Recessive (3;14) Autosomal Semidominant (1;5)	0.235	2019-09-04 Bruce Beutler	FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS macrophages - decreased FACS T cells - increased	A ⇒ T	missense	possibly damaging	0.899
75	Cd40	0.000	bluebonnet	2	165055627-165072948 bp (+)	165062301	Autosomal Recessive (2;12) Autosomal Semidominant (1;3)	0.464	2019-09-04 Katherine Timer	OVA-specific IgE - increased 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 ⇒ C	missense	probably benign	0.226
76	Tlr3	0.082	Rakshasa	8	45395665-45411080 bp (-)	45397697	Autosomal Dominant (1;4)	0.036	2019-09-04 Katherine Timer	TLR signaling defect: hyposensitivity to poly I:C TLR signaling defect: TNF production by macrophages	A ⇒ G	missense	probably benign	0.084
77	Card11	0.000	hubei	5	140872990-141000582 bp (-)	140906767	Autosomal Recessive (1;7)	0.197	2019-09-04 Diantha La Vine	FACS B1a cells - increased	T ⇒ C	missense	probably damaging	0.959
78	Dock2	0.000	liaoning	11	34226815-34783892 bp (-)	34708793	Autosomal Recessive (5;24)	0.945	2019-09-04 Diantha La Vine	FACS B1b cells in B1 cells - increased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased	T ⇒ C	missense	probably damaging	1.000
79	Tap1	0.000	rose2	17	34187553-34197225 bp (+)	34194941	Autosomal Dominant (2;9) Autosomal Recessive (6;35), Autosomal Semidominant (1;6)	0.977	2019-09-04 Diantha La Vine	FACS CD4:CD8 - increased MCMV susceptibility post-MCMV FACS CD4:CD8 - increased post-MCMV FACS CD4+ T cells - decreased post-MCMV FACS CD44+ CD8 T cells - decreased post-MCMV FACS CD44+ T cells - decreased post-MCMV FACS CD8+ T cells - decreased post-MCMV FACS IgM+ B cells - decreased post-MCMV FACS T cells - decreased	T ⇒ G	missense	probably damaging	1.000
80	Ikbkb	1.000	Impaired	8	22659212-22706589 bp (-)	22666020	Autosomal Recessive (2;8) Autosomal Semidominant (5;21)	0.725	2019-09-04 Diantha La Vine	IgG1 response to a Cysteine Protease (Papain) - decreased MCMV susceptibility post-MCMV FACS B1a cells in B1 cells - decreased post-MCMV FACS B1b cells in B1 cells - increased post-MCMV FACS CD44+ CD4 MFI - decreased post-MCMV FACS CD44+ CD8 MFI - decreased post-MCMV FACS CD44+ CD8 T cells - decreased post-MCMV FACS CD44+ T MFI - decreased post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased TLR signaling defect: hyposensitivity to MALP2	A ⇒ G	missense	probably damaging	1.000
81	Cacna2d2	0.878	hera	9	107399612-107529343 bp (+)	107513280	Autosomal Recessive (3;22)	0.681	2019-09-04 Diantha La Vine	Body Weight - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased growth/size	T ⇒ C	missense	probably damaging	0.999
82	Kbtbd2	0.000	infinitesimal	6	56777524-56797813 bp (-)	56779090	Autosomal Recessive (9;53)	0.984	2019-09-04 Anne Murray	30 min GTT hyperglycemic 30 min GTT hyperglycemic (male) Body Weight - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased growth/size MCMV susceptibility	A ⇒ G	missense	probably damaging	0.996
83	Atp7b	0.673	daffodil	8	21992785-22060305 bp (-)	21998266	Unknown (1;0)	failed initial filter	2019-09-04 Anne Murray	liver/biliary system MTT Value of PECs - decreased	T ⇒ G	missense	probably damaging	1.000
84	Pax1	0.499	wavy	2	147361925-147393295 bp (+)	147365802	Unknown (1;0)	failed initial filter	2019-09-04 Anne Murray	limbs/digits/tail phenotype	T ⇒ A	missense	probably damaging	1.000
85	Rims4	0.146	demure	2	163859751-163918683 bp (-)	163864120	Autosomal Recessive (2;12)	0.595	2019-09-04 Anne Murray	Body Weight - decreased Body Weight (Z-score) - decreased growth/size	A ⇒ T	missense	probably damaging	0.994
86	Fasl	0.380	riogrande2	1	161780689-161788495 bp (-)	161787138	Autosomal Recessive (1;6)	0.167	2019-09-04 Anne Murray	T-dependent humoral response defect- decreased antibody response to rSFV	T ⇒ G	missense	probably benign	0.001
87	Pappa2	0.000	Lilliputian	1	158711727-158980490 bp (-)	158716990	Autosomal Semidominant (3;18)	0.910	2019-09-04 Diantha La Vine	Body Weight - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased growth/size	C ⇒ A	missense	probably damaging	1.000
88	Cd22	0.000	gansu	7	30865402-30880342 bp (-)	30870105	Autosomal Recessive (7;42)	0.910	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B1a cells in B1 cells - increased FACS B2 cells - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased	C ⇒ T	missense	probably damaging	1.000
89	Itgb2	0.330	newhome	10	77530252-77565708 bp (+)	77559681	Autosomal Recessive (2;21)	0.544	2019-09-04 Diantha La Vine	dsDNA induced type I IFN production - increased impaired response to dsDNA- type I IFN production by macrophages	G ⇒ A	missense	probably benign	0.001
90	Slc13a5	0.000	Punk	11	72241989-72267222 bp (-)	72262076	Autosomal Recessive (1;4) Autosomal Semidominant (4;19)	0.542	2019-09-04 Diantha La Vine	Body Weight - decreased Body Weight (DSS) - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased growth/size	A ⇒ G	missense	probably damaging	0.998
91	Smtn	0.438	runtish	11	3517523-3540612 bp (-)	3531326	Autosomal Recessive (1;6)	0.102	2019-09-04 Anne Murray	Body Weight - decreased growth/size	G ⇒ T	missense	possibly damaging	0.895
92	Mlph	0.091	beau	1	90915085-90951142 bp (+)	90928122	Unknown	no linkage result	2019-09-04 Anne Murray		T ⇒ C	missense	probably damaging	1.000
93	Itk	0.164	itxaro	11	46325150-46389515 bp (-)	46338217	Autosomal Recessive (10;58)	0.960	2019-09-04 Anne Murray	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 MFI - 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 CD8 T cells in CD8 T cells - decreased IgE response to a Cysteine Protease (Papain) - increased total IgE level - increased	A ⇒ G	missense	probably damaging	1.000
94	Tlr4	0.000	don_knotts	4	66827584-66930284 bp (+)	66841172	Unknown (1;0) Autosomal Recessive (4;20)	0.270	2019-09-04 Katherine Timer	FACS B cells - decreased FACS B220 MFI - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages	T ⇒ C	missense	probably damaging	1.000
95	Tlr4	0.000	milquetoast	4	66827584-66930284 bp (+)	66839444	Autosomal Recessive (1;4)	failed initial filter	2019-09-04 Anne Murray	TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages	A ⇒ T	missense	probably damaging	0.998
96	Malt1	0.435	yellowstone	18	65430962-65478823 bp (+)	65458200	Autosomal Recessive (3;8)	0.327	2019-09-04 Anne Murray	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	T ⇒ A	missense	probably damaging	1.000
97	Zap70	0.204	wanna2	1	36761798-36782818 bp (+)	36781412	Unknown (11;0) Autosomal Dominant (4;8), Autosomal Recessive (9;86)	0.910	2019-09-04 Diantha La Vine	30 min GTT hypoglycemic dsDNA induced type I IFN production - increased FACS B:T cells - increased FACS CD4:CD8 - increased 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 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 effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS NK cells - increased FACS T cells - decreased impaired response to dsDNA- type I IFN production by macrophages 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: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages	T ⇒ C	missense	probably damaging	1.000
98	Prkcq	0.000	celina	2	11172108-11301222 bp (+)	11283849	Autosomal Recessive (1;6)	0.427	2019-09-04 Anne Murray	T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization	A ⇒ G	missense	possibly damaging	0.822
99	Mc4r	0.090	halloween	18	66857715-66860472 bp (-)	66859821	Autosomal Recessive (6;47) Autosomal Semidominant (4;24)	0.839	2019-09-04 Diantha La Vine	125-03 Response - decreased adipose tissue Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased growth/size MTT Value of PECs - decreased T-dependent humoral response defect- increased antibody response to rSFV	T ⇒ A	missense	probably damaging	0.999
100	Dock2	0.000	Arches	11	34226815-34783892 bp (-)	34689760	Autosomal Recessive (3;14) Autosomal Semidominant (3;18)	0.729	2019-09-04 Diantha La Vine	FACS B1 cells - increased FACS B1a cells in B1 cells - decreased FACS B220 MFI - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased	A ⇒ T	missense	probably damaging	0.999
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