Mutagenetix > Phenotypic Mutations

Phenotypic Mutations

70 mutations affecting 64 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 70 of 70] per page Full List
		~						Verification Probability		Phenotypic Category and and and	⇒
1	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
2	Inpp5d	0.887	Orange	1	87620312-87720507 bp (+)	87697546	Autosomal Dominant (3;10) Autosomal Semidominant (2;11)	0.902	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	G ⇒ A	critical splice donor site	1 bp	probably null
3	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
4	Klhl6	0.094	cerulean	16	19946496-19983037 bp (-)	19957218	Autosomal Recessive (8;130) Autosomal Semidominant (6;41)	0.902	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
5	Myo15	0.000	Typhoon	11	60469339-60528369 bp (+)	60487425	Autosomal Dominant (1;7) Autosomal Recessive (1;5)	0.132	2019-10-23 Anne Murray	behavior/neurological NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	G ⇒ A	critical splice donor site		probably null
6	Kitl	0.362	Gregory	10	100015630-100100416 bp (+)	100076906	Unknown (2;0) Autosomal Dominant (3;8)	failed initial filter	2019-10-23 Anne Murray	pigmentation skin/coat/nails	G ⇒ A	critical splice donor site		probably null
7	Tnfsf13b	0.096	Frozen	8	10006467-10039072 bp (+)	10031661	Autosomal Recessive (6;46) Autosomal Semidominant (8;93)	0.837	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS CD11c+ DCs - increased FACS CD8+ T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS macrophages - increased FACS neutrophils - increased FACS T cells - increased T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ A	splice site	5 bp	probably null
8	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
9	Entpd5	0.000	eatsy	12	84373857-84409029 bp (-)	84382295	Autosomal Recessive (10;46) Autosomal Semidominant (2;9)	0.918	2019-09-04 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 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
10	Ciita	0.126	sisal	16	10480059-10528418 bp (+)	10513288	Autosomal Recessive (9;49) Autosomal Semidominant (1;4)	0.880	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 CD8+ T cells in CD3+ T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased post-MCMV FACS CD4:CD8 - decreased post-MCMV FACS CD8+ T cells in CD3+ 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 TLR signaling defect: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages	G ⇒ A	critical splice donor site	1 bp	probably null
11	Myo6	0.000	torticollis	9	80165031-80311729 bp (+)	80288217	Autosomal Recessive (4;15)	0.174	2019-09-04 Anne Murray	behavior/neurological dsDNA induced type I IFN production - increased hearing/vestibular/ear impaired response to dsDNA- type I IFN production by macrophages	G ⇒ A	critical splice donor site	1 bp	probably null
12	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
13	Gk5	0.000	tangyuan	9	96119362-96184608 bp (+)	96150797	Autosomal Recessive (6;25)	0.981	2019-09-04 Anne Murray	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	G ⇒ A	critical splice donor site	1 bp	probably null
14	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
15	Slx4	1.000	slim	16	3979105-4003770 bp (-)	3990910	Autosomal Recessive (4;22)	0.495	2019-09-04 Anne Murray	Body Weight - decreased Body Weight (DSS Female) - decreased Body Weight (DSS) - decreased growth/size	G ⇒ A	nonsense		probably null
16	Ighe	0.049	Allegra	12	113271174-113273248 bp (-)	113271374	Autosomal Semidominant (2;9)	0.119	2019-09-04 Anne Murray	ratio of OVA-specific IgE over the total IgE - increased total IgE level - decreased	G ⇒ A	nonsense		probably null
17	Naip5	0.068	inwood3	13	100211739-100246323 bp (-)	100221903	Autosomal Recessive (2;9)	0.827	2019-09-04 Anne Murray	Nlrc4 inflammasome: low response	G ⇒ A	nonsense		probably null
18	Dock8	0.083	snowdrop	19	24999529-25202432 bp (+)	25184941	Autosomal Recessive (9;38) Autosomal Semidominant (1;4)	0.933	2019-09-04 Anne Murray	FACS B:T cells - increased FACS CD4+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD8+ T cells - decreased FACS macrophages - increased FACS naive CD8 T cells in CD8 T cells - decreased FACS 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	critical splice donor site		probably null
19	Clock	0.730	uhr	5	76209868-76304792 bp (-)	76229554	Autosomal Recessive (1;2)	failed initial filter	2019-09-04 Katherine Timer	Body Weight - increased	G ⇒ A	nonsense		probably null
20	Rorc	0.814	macadamias2	3	94372794-94398276 bp (+)	94387193	Autosomal Recessive (18;118)	0.977	2019-09-04 Diantha La Vine	FACS B:T cells - increased FACS B1a cells - increased FACS B1b 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+ CD4 MFI - increased FACS CD44+ CD8 MFI - increased FACS CD8+ T cells in CD3+ 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 - increased FACS macrophages - increased FACS naive CD8 T cells in CD8 T cells - decreased NALP3 inflammasome signaling defect NLRP3 inflammasome: high response T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV	G ⇒ A	missense		probably damaging	1.000
21	Tg	0.131	ito2	15	66670753-66850721 bp (+)	66671396	Unknown (1;0) Autosomal Recessive (17;94), Autosomal Semidominant (1;5)	0.883	2019-09-04 Diantha La Vine	Body Weight - decreased Body Weight (Female) - decreased Body Weight (Z-score) - decreased DSS: sensitive day 10 FACS B cells - decreased FACS B1a cells - increased FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 T cells - increased FACS CD8+ T cells in CD3+ T cells - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS macrophages - increased	G ⇒ A	missense		probably damaging	0.999
22	Fgfr4	0.000	Modest	13	55152640-55168759 bp (+)	55166251	Autosomal Semidominant (5;27)	0.425	2019-09-04 Diantha La Vine	Body Weight - decreased Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased Body Weight (Z-score) - decreased FACS B1a cells in B1 cells - decreased	G ⇒ A	missense		probably damaging	1.000
23	Lepr	0.000	giant	4	101717404-101815352 bp (+)	101765152	Autosomal Recessive (13;96) Autosomal Semidominant (1;3)	0.917	2019-09-04 Diantha La Vine	30 min GTT hyperglycemic Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased FACS macrophages - increased growth/size NK cell response - decreased NK killing - decreased OVA-specific IgE - increased TLR signaling defect: hyposensitivity to CpG + IFNg total IgE level - increased	G ⇒ A	critical splice donor site		probably null
24	Impdh1	0.241	steve	6	29200434-29216364 bp (-)	29204632	Autosomal Recessive (3;25) Autosomal Semidominant (1;4)	0.425	2019-09-04 Anne Murray	TLR signaling defect: hyposensitivity to CpG + IFNg vision/eye	G ⇒ A	nonsense		probably null
25	Fbxl3	0.230	delargo	14	103080239-103099566 bp (-)	103089418	Autosomal Recessive (4;46) Autosomal Semidominant (1;14)	no linkage result	2019-09-04 Anne Murray		G ⇒ A	missense		probably damaging	1.000
26	Itgb2	0.330	nibbler	10	77530252-77565708 bp (+)	77561216	Autosomal Recessive (25;179)	0.957	2019-09-04 Diantha La Vine	CD8 response - decreased CTL killing - decreased CTL killing dominant epitope - decreased FACS B cells - decreased FACS B:T cells - decreased FACS B1b cells - increased FACS CD11b+ DCs (gated in CD11c+ cells) - decreased 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+ 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 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 - decreased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - decreased FACS NK1.1+ T cells - increased NK cell response - decreased NK killing - decreased T-dependent humoral response defect- decreased antibody response to rSFV total IgE level - increased	G ⇒ A	critical splice donor site		probably null
27	Hps5	0.116	smoky	7	46760466-46796064 bp (-)	46769351	Autosomal Recessive (1;2)	failed initial filter	2019-09-04 Diantha La Vine	pigmentation skin/coat/nails	G ⇒ A	nonsense		probably null
28	Prkcq	0.000	celina2	2	11172108-11301222 bp (+)	11226986	Autosomal Recessive (1;4)	0.526	2019-09-04 Anne Murray	T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization	G ⇒ A	critical splice donor site		probably null
29	Slc6a6	0.000	durango	6	91684053-91759066 bp (+)	91723471	Autosomal Recessive (5;53) Autosomal Semidominant (2;8)	0.974	2019-09-04 Anne Murray	FACS effector memory CD4 T cells in CD4 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased vision/eye	G ⇒ A	missense		probably damaging	1.000
30	Prkdc	0.947	screamer6	16	15637866-15842235 bp (+)	15759605	Autosomal Recessive (2;11)	0.873	2019-09-04 Diantha La Vine	FACS effector memory CD4 T cells in CD4 T cells - increased T-dependent humoral response defect- decreased antibody response to rSFV	G ⇒ A	missense		probably damaging	1.000
31	Aicda	0.000	creeper	6	122553801-122564180 bp (+)	122561867	Autosomal Dominant (1;4) Autosomal Recessive (3;21), Autosomal Semidominant (2;16)	0.951	2019-09-04 Anne Murray	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 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased total IgE level - decreased	G ⇒ A	missense		probably damaging	0.999
32	Vav1	0.270	Plain_sight	17	57279100-57328031 bp (+)	57297122	Autosomal Semidominant (1;5)	0.810	2019-09-04 Diantha La Vine	FACS B1 cells - decreased	G ⇒ A	missense		probably damaging	1.000
33	Ltbr	0.174	armitage	6	125306571-125313885 bp (-)	125312794	Autosomal Recessive (1;5) Autosomal Semidominant (1;2)	0.816	2019-09-04 Diantha La Vine	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ A	missense		probably damaging	0.973
34	Slc13a5	0.000	punk2	11	72241989-72267222 bp (-)	72253391	Autosomal Recessive (11;62)	0.337	2019-09-04 Anne Murray	Body Weight - decreased Body Weight (Female) - decreased Body Weight (Z-score) - decreased	G ⇒ A	missense		possibly damaging	0.655
35	Eml1	0.272	bubble	12	108370957-108539617 bp (+)	108513071	Autosomal Recessive (1;8)	failed initial filter	2019-09-04 Anne Murray	craniofacial nervous system	G ⇒ A	critical splice donor site		probably null
36	Card11	0.000	Sharp	5	140872990-141000582 bp (-)	140876425	Autosomal Semidominant (2;10)	0.709	2019-09-04 Diantha La Vine	FACS CD4+ T cells - increased FACS T cells - increased	G ⇒ A	missense		possibly damaging	0.934
37	Il4ra	0.082	Haile	7	125552120-125579474 bp (+)	125574717	Autosomal Dominant (1;4)	0.088	2019-09-04 Anne Murray	total IgE level - decreased	G ⇒ A	critical splice donor site	1 bp	probably null
38	Jak3	0.721	potentes	8	71676296-71690575 bp (+)	71686058	Autosomal Recessive (2;8)	0.827	2019-09-04 Anne Murray	FACS CD4:CD8 - increased FACS CD4+ T cells in CD3+ T cells - increased	G ⇒ A	missense		probably damaging	0.985
39	Nfkb1	0.000	Wheelo	3	135584655-135691547 bp (-)	135615349	Autosomal Semidominant (1;4)	0.577	2019-09-04 Anne Murray	total IgE level - decreased	G ⇒ A	missense		possibly damaging	0.806
40	Nos3	0.000	Peter	5	24364810-24384474 bp (+)	24377855	Autosomal Semidominant (1;5)	0.391	2019-09-04 Anne Murray	DSS: sensitive day 7	G ⇒ A	missense		probably damaging	0.994
41	Pappa	0.728	maennelein	4	65124174-65357509 bp (+)	65314796	Unknown (2;0) Autosomal Dominant (1;1), Autosomal Recessive (6;40)	0.886	2019-09-04 Diantha La Vine	Body Weight - decreased Body Weight (Female) - decreased Body Weight (Z-score) - decreased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization 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	G ⇒ A	splice site	5 bp	probably null
42	Pappa2	0.000	Gulliver	1	158711727-158980490 bp (-)	158857136	Autosomal Dominant (1;4)	0.908	2019-09-04 Anne Murray	Body Weight - decreased	G ⇒ A	missense		probably null	1.000
43	Tg	0.131	samarai	15	66670753-66850721 bp (+)	66758006	Autosomal Recessive (15;67)	0.893	2019-09-04 Anne Murray	Body Weight - decreased Body Weight (Z-score) - decreased FACS B1a cells - increased FACS B2 cells - decreased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS IgM+ B cells - decreased FACS macrophages - increased total IgE level - increased	G ⇒ A	critical splice donor site	1 bp	probably null
44	Vav1	0.270	Delayed	17	57279100-57328031 bp (+)	57296552	Autosomal Dominant (11;76) Autosomal Semidominant (3;13)	0.954	2019-09-04 Anne Murray	FACS B1 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 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 naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased	G ⇒ A	missense		probably damaging	0.998
45	Lmbr1l	0.000	morula	15	98903917-98918231 bp (-)	98904791	Autosomal Recessive (1;4)	0.920	2019-09-04 Anne Murray	CD8 response - decreased CTL killing - decreased CTL killing dominant epitope - decreased FACS B cells - increased FACS B:T cells - increased FACS B1 cells - increased FACS B1a cells in B1 cells - decreased FACS B220 MFI - decreased 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 cells - decreased 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 IgD+ B cell percentage - increased FACS IgM MFI - increased 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 - decreased FACS NK1.1+ T cells - decreased FACS T cells - decreased MCMV susceptibility NK cell response - decreased NK killing - 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	G ⇒ A	missense		probably damaging	1.000
46	Rel	0.000	giza	11	23736847-23770970 bp (-)	23757010	Autosomal Recessive (1;4)	0.855	2019-09-04 Anne Murray	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ A	missense		probably damaging	0.995
47	Rag1	0.521	dysfunctional	2	101638282-101649501 bp (-)	101644284	Autosomal Recessive (3;14) Autosomal Semidominant (1;5)	0.862	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B:T cells - decreased FACS CD44+ CD8 MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased	G ⇒ A	missense		probably damaging	1.000
48	Prkcb	0.000	Baghdad	7	122288751-122634402 bp (+)	122627663	Autosomal Semidominant (1;6)	0.531	2019-09-04 Anne Murray	FACS B1 cells - decreased	G ⇒ A	missense		probably benign	0.070
49	Kbtbd2	0.000	teeny	6	56777524-56797813 bp (-)	56780389	Unknown (1;0) Autosomal Recessive (6;45), Autosomal Semidominant (1;7)	0.979	2019-08-15 External Program	30 min GTT hyperglycemic Body Weight - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased FACS B1a cells - decreased FACS CD44+ CD8 T cells - increased growth/size liver/biliary system	G ⇒ A	nonsense		probably null
50	Cd22	0.000	well	7	30865402-30880342 bp (-)	30877787	Unknown	no linkage results	2019-07-29 Diantha La Vine	FACS B cells - decreased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ A	nonsense		probably null
51	Ptprc	0.000	guotie	1	138062861-138175708 bp (-)	138068401	Unknown (1;0) Autosomal Recessive (53;509), Autosomal Semidominant (9;57)	0.970	2019-06-06 Diantha La Vine	30 min GTT hypoglycemic 30 min GTT hypoglycemic (male) 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 B1a cells in B1 cells - decreased FACS B1b cells - increased FACS B2 cells - decreased FACS CD11c+ DCs - increased FACS CD4:CD8 - increased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 T cells - decreased FACS CD44+ CD8 MFI - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 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 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 - increased FACS IgM+ B cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS NK1.1+ T cells - decreased FACS T cells - decreased post-MCMV FACS B cells - decreased post-MCMV FACS B:T cells - decreased post-MCMV FACS B1 cells - increased post-MCMV FACS B1a cells in B1 cells - decreased post-MCMV FACS B1b cells in B1 cells - increased post-MCMV FACS B220 MFI - decreased post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased post-MCMV FACS CD4:CD8 - increased post-MCMV FACS CD4+ T cells - decreased post-MCMV FACS CD44+ CD8 MFI - increased post-MCMV FACS CD44+ T MFI - increased post-MCMV FACS CD8+ T cells - decreased post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - decreased post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased post-MCMV FACS IgD MFI - decreased post-MCMV FACS IgD+ B cell percentage - decreased post-MCMV FACS IgM MFI - increased post-MCMV FACS IgM+ B cells - decreased post-MCMV FACS macrophages - decreased post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased post-MCMV FACS neutrophils - increased post-MCMV FACS NK T cells - decreased post-MCMV FACS pDCs - decreased post-MCMV FACS 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 total IgE level - decreased	G ⇒ A	nonsense		probably null
52	Msh6	1.000	medea	17	87975050-87990883 bp (+)	87980223	Autosomal Recessive (1;20)	0.629	2019-05-22 Diantha La Vine	T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization total IgE level - decreased	G ⇒ A	nonsense		probably null
53	Dock2	0.000	dew	11	34226815-34783892 bp (-)	34248636	Unknown (1;0)	no linkage results	2019-05-21 Diantha La Vine	FACS CD4+ T cells - decreased FACS CD8+ T cells - decreased T-dependent humoral response defect- decreased antibody response to rSFV	G ⇒ A	nonsense		probably null
54	Card11	0.000	may	5	140872990-141000582 bp (-)	140876495	Unknown	no linkage results	2019-04-16 Diantha La Vine	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ A	nonsense		probably null
55	Lepr	0.000	well-upholstered	4	101717404-101815352 bp (+)	101772959	Unknown	no linkage results	2019-03-30 Diantha La Vine	adipose tissue behavior/neurological Body Weight - increased growth/size homeostasis/metabolism reproductive system	G ⇒ A	synonymous		probably benign
56	Fnip1	0.688	hamel	11	54438199-54518235 bp (+)	54480685	Unknown	no linkage results	2019-02-07 Diantha La Vine	hematopoietic competition - disadvantage hematopoietic system homeostasis/metabolism muscle	G ⇒ A	critical splice donor site	1 bp	probably benign
57	Tlr7	0.168	rsq1	X	167304929-167330558 bp (-)	167308286	Unknown (1;0)	no linkage results	2018-12-14 Diantha La Vine	immune system TLR signaling defect: TNF production by macrophages	G ⇒ A	missense		probably damaging	1.000
58	Atp11c	0.407	emptyhive	X	60223290-60592698 bp (-)	60269987	Unknown	no linkage results	2018-10-25 Diantha La Vine	FACS B cells - decreased hematopoietic system homeostasis/metabolism immune system liver/biliary system reproductive system	G ⇒ A	nonsense		probably null
59	Hr	0.000	mister_clean	14	70552212-70573548 bp (+)	70560065	Unknown	no linkage results	2018-03-02 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	critical splice donor site	1 bp	probably benign
60	Oca2	0.223	quicksilver	7	56239760-56536518 bp (+)	56324661	Unknown	no linkage results	2018-01-12 Diantha La Vine	pigmentation skin/coat/nails	G ⇒ A	missense		probably benign	0.190
61	Muc2	0.083	Winnie	7	141690340-141754693 bp (+)	141699460	Unknown	no linkage results	2017-09-13 Diantha La Vine	DSS: sensitive day 7 immune system	G ⇒ A	missense		probably damaging	1.000
62	Map3k8	0.000	gnostic_gospel	18	4331327-4353015 bp (-)	4333965	Unknown (1;0) Autosomal Dominant (1;3), Autosomal Recessive (4;20), Autosomal Semidominant (1;3)	0.796	2017-09-11 Diantha La Vine	FACS B1 cells - increased NALP3 inflammasome signaling defect NLRP3 inflammasome: low response TLR signaling defect: hyposensitivity to LPS TLR signaling defect: hyposensitivity to PAM3CSK4 TLR signaling defect: hyposensitivity to poly I:C TLR signaling defect: TNF production by macrophages	G ⇒ A	missense		probably damaging	1.000
63	Map3k14	0.665	lucky	11	103219762-103267472 bp (-)	103249558	Unknown (1;0)	no linkage results	2017-04-06 Katherine Timer	FACS B cells - decreased hematopoietic system immune system T-dependent humoral response defect- decreased antibody response to rSFV	G ⇒ A	intron		probably benign
64	Cd14	0.116	heedless	18	36725074-36726736 bp (-)	36726171	Unknown (1;0)	no linkage results	2017-03-27 Katherine Timer	immune system TLR signaling defect: TNF production by macrophages	G ⇒ A	missense		probably benign	0.007
65	Tlr4	0.000	Lps4	4	66827584-66930284 bp (+)	66841142	Unknown (1;0)	no linkage results	2016-12-09 Katherine Timer	immune system TLR signaling defect: TNF production by macrophages	G ⇒ A	missense		probably damaging	1.000
66	Ticam1	0.000	Pangu	17	56269319-56276786 bp (-)	56276693	Unknown (2;0)	no linkage results	2016-10-13 Anne Murray	TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages	G ⇒ A	critical splice donor site		probably benign
67	Tmprss6	0.070	zorro	15	78439667-78468634 bp (-)	78464552	Unknown	no linkage results	2016-05-13 Peter Jurek	embryogenesis growth/size hematopoietic system homeostasis/metabolism iron deficiency reproductive system skin/coat/nails	G ⇒ A	intron		probably benign
68	Tgm3	0.000	tortellini	2	130012349-130050399 bp (+)	130024585	Unknown (1;0)	no linkage results	2016-05-13 Stephen Lyon	immune system RVFV susceptibility skin/coat/nails	G ⇒ A	critical splice donor site	1 bp	probably benign
69	Tlr9	0.089	Cpg6	9	106222598-106226883 bp (+)	106226593	Unknown (2;0)	no linkage results	2016-05-13 Peter Jurek	immune system response to injected CpG DNA - decreased TLR signaling defect: TNF production by macrophages	G ⇒ A	missense		probably damaging	1.000
70	Bicc1	1.000	artemis	10	70922832-71159700 bp (-)	71027954	Unknown	no linkage results	2016-05-13 Stephen Lyon	homeostasis/metabolism life span-post-weaning/aging renal/urinary system	G ⇒ A	missense		probably damaging	0.994
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