Mutagenetix > Phenotypic Mutations

Phenotypic Mutations

20 mutations affecting 17 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 20 of 20] per page Full List
		~							Phenotypic Category any of and and none of and and	⇒
1	Tap1	0.000	17	34187553-34197225 bp (+)	34194941	Autosomal Dominant (2;9) Autosomal Recessive (6;35) Autosomal Semidominant (1;6)	good candidate	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
2	Atp7b	0.836	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
3	Fasl	0.452	1	161780689-161788495 bp (-)	161787138	Autosomal Recessive (1;6)	potential candidate	2019-09-04 Anne Murray	T-dependent humoral response defect- decreased antibody response to rSFV	T ⇒ G	missense		probably benign	0.001
4	Rac2	0.000	15	78559167-78572783 bp (-)	78565945	Autosomal Dominant (1;2) Autosomal Recessive (5;12) Autosomal Semidominant (2;10)	excellent candidate	2019-09-04 Diantha La Vine	FACS B1 cells - decreased FACS B1a cells - decreased FACS B1a cells in B1 cells - decreased FACS B1b cells - increased FACS B1b cells in B1 cells - increased FACS CD4:CD8 - increased FACS CD8+ T cells - decreased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	T ⇒ G	missense		possibly damaging	0.955
5	Psap	1.000	10	60277627-60302597 bp (+)	60300851	Autosomal Dominant (1;1) Autosomal Recessive (1;3)	not good candidate	2019-09-04 Anne Murray	behavior/neurological fasting hyperglycemia	T ⇒ G	missense		probably damaging	1.000
6	Dock2	0.000	11	34226815-34783892 bp (-)	34294170	Autosomal Recessive (5;40)	excellent candidate	2019-09-04 Diantha La Vine	FACS CD4+ T cells in CD3+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased OVA-specific IgE - increased total IgE level - increased	T ⇒ G	critical splice acceptor site		probably null
7	Dock2	0.000	11	34226815-34783892 bp (-)	34732371	Autosomal Dominant (1;3)	potential candidate (Recruited)	2019-09-04 Diantha La Vine	FACS NK cells - increased	T ⇒ G	missense		possibly damaging	0.813
8	Ikbkb	1.000	8	22659212-22706589 bp (-)	22675036	Autosomal Dominant (1;7)	not good candidate	2019-09-04 Anne Murray	FACS central memory CD4 T cells in CD4 T cells - 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	T ⇒ G	missense		probably damaging	0.998
9	Dock2	0.000	11	34226815-34783892 bp (-)	34262445	Autosomal Semidominant (2;9)	excellent candidate	2019-09-04 Anne Murray	FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased	T ⇒ G	missense		probably benign	0.000
10	Nlrp3	0.067	11	59541568-59566956 bp (+)	59549036	Autosomal Dominant (2;4)	failed initial filter	2019-01-29 Diantha La Vine	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	T ⇒ G	missense		probably damaging	0.999
11	Nlrp3	0.067	11	59541568-59566956 bp (+)	59565974	Unknown (1;0)	no linkage results	2019-01-29 Diantha La Vine	immune system NALP3 inflammasome signaling defect	T ⇒ G	missense		probably benign	0.450
12	Lyst	0.288	13	13590397-13778803 bp (+)	13602026	Unknown	no linkage results	2018-08-02 Diantha La Vine	pigmentation skin/coat/nails	T ⇒ G	intron		probably benign
13	Slc45a2	0.099	15	11000721-11029233 bp (+)	11001092	Unknown	no linkage results	2018-08-01 Diantha La Vine	pigmentation skin/coat/nails	T ⇒ G	missense		probably damaging	1.000
14	Spink5	1.000	18	43963235-44022501 bp (+)	43999935	Unknown (1;0)	no linkage results	2018-05-22 Anne Murray	immune system lethality-postnatal skin/coat/nails	T ⇒ G	splice site	6 bp	probably benign
15	Hr	0.000	14	70552212-70573548 bp (+)	70571429	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	T ⇒ G	missense		probably damaging	1.000
16	Traf3	1.000	12	111166370-111267153 bp (+)	111262036	Autosomal Recessive (2;18)	excellent candidate	2017-10-14 Katherine Timer	FACS B2 cells - decreased T-dependent humoral response defect- decreased antibody response to rSFV	T ⇒ G	missense		probably damaging	0.999
17	Rag2	0.194	2	101624718-101632529 bp (+)	101630603	Autosomal Recessive (13;88)	excellent candidate	2017-05-17 Anne Murray	FACS B cells - decreased FACS B2 cells - decreased FACS B220 MFI - decreased FACS CD4+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD8 MFI - increased FACS CD8+ T cells - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B 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 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	T ⇒ G	missense		probably damaging	0.999
18	Nfkbid	0.119	7	30421732-30428746 bp (+)	30425411	Unknown (2;0)	no linkage results	2017-03-28 Katherine Timer	FACS B 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	T ⇒ G	critical splice donor site	2 bp	probably benign
19	Rc3h1	0.439	1	160906418-160974978 bp (+)	160940830	Unknown	no linkage results	2016-05-13 Peter Jurek	autoimmunity immune system	T ⇒ G	synonymous		probably benign
20	Cryaa	0.000	17	31677933-31681724 bp (+)	31681025	Unknown	no linkage results	2016-05-13 Stephen Lyon	vision/eye	T ⇒ G	missense		probably damaging	1.000
[records 1 to 20 of 20]