Mutagenetix > Phenotypic Mutations

Phenotypic Mutations

19 mutations affecting 19 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 19 of 19] per page Full List
		~							Phenotypic Category any of and and none of and and	⇒
1	Rel	0.000	11	23736847-23770970 bp (-)	23753215	Autosomal Recessive (4;18) Autosomal Semidominant (5;25)	excellent candidate	2019-10-23 Diantha La Vine	FACS B1 cells - decreased FACS CD4+ T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS naive CD8 T cells in CD8 T cells - decreased FACS T cells - 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-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization total IgE level - decreased	A ⇒ C	critical splice donor site		probably null
2	Hps3	0.133	3	19995945-20035315 bp (-)	20030796	Autosomal Semidominant (1;1)	no Linkage result	2019-10-23 Anne Murray		A ⇒ C	missense		probably damaging	1.000
3	Adamts20	0.162	15	94270163-94465418 bp (-)	94331458	Autosomal Recessive (1;1)	no Linkage result	2019-09-04 Diantha La Vine		A ⇒ C	missense		probably damaging	1.000
4	Irs2	0.545	8	10984681-11008458 bp (-)	10987012	Autosomal Semidominant (5;27)	no Linkage result	2019-09-04 Anne Murray		A ⇒ C	makesense		probably null
5	Mlh1	0.000	9	111228228-111271791 bp (-)	111271523	Autosomal Recessive (2;11)	excellent candidate	2019-09-04 Anne Murray	T-dependent humoral response defect- decreased antibody response to rSFV total IgE level - decreased	A ⇒ C	start codon destroyed		probably null	0.933
6	Ptprc	0.226	1	138062861-138175708 bp (-)	138067890	Autosomal Recessive (1;7) Autosomal Semidominant (4;29)	excellent candidate	2019-09-04 Diantha La Vine	FACS B1 cells - increased FACS B1a cells in B1 cells - decreased FACS B1b cells - decreased FACS B220 MFI - decreased FACS naive CD8 T cells in CD8 T cells - decreased	A ⇒ C	missense		probably damaging	1.000
7	Jak3	0.802	8	71676296-71690575 bp (+)	71683978	Autosomal Recessive (5;22) Autosomal Semidominant (1;4)	excellent candidate (Recruited)	2019-09-04 Anne Murray	FACS CD4:CD8 - increased FACS CD4+ T cells in CD3+ T cells - increased 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 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization	A ⇒ C	missense		probably damaging	1.000
8	Ltbr	0.138	6	125306571-125313885 bp (-)	125313388	Autosomal Recessive (2;17)	excellent candidate	2019-08-13 Diantha La Vine	ratio of OVA-specific IgE over the total IgE - increased T-dependent humoral response defect- decreased antibody response to rSFV	A ⇒ C	critical splice donor site	2 bp	probably null
9	Ifnar1	0.000	16	91485238-91507441 bp (+)	91499885	Unknown (1;0)	no linkage results	2018-11-07 Diantha La Vine	adenovirus infection of macrophages - increased immune system influenza proliferation in macrophages - increased MCMV proliferation in macrophages - increased MCMV susceptibility RVFV proliferation in macrophages - increased	A ⇒ C	missense		probably damaging	0.977
10	Slc45a2	0.115	15	11000721-11029233 bp (+)	11012610	Unknown	no Linkage result	2018-08-01 Diantha La Vine		A ⇒ C	missense		probably damaging	0.999
11	Myo7a	0.000	7	98051060-98119524 bp (-)	98085466	Autosomal Recessive (2;10)	no Linkage result	2018-04-25 Anne Murray		A ⇒ C	missense		probably damaging	1.000
12	Samd4	0.768	14	46882854-47105815 bp (+)	47016337	Unknown	no linkage results	2018-03-06 Diantha La Vine	adipose tissue homeostasis/metabolism	A ⇒ C	missense		probably damaging	1.000
13	Itk	0.174	11	46325150-46389515 bp (-)	46338099	Autosomal Recessive (17;153)	excellent candidate	2018-01-30 Anne Murray	FACS B cells - increased FACS B:T cells - 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+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS CD8+ 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 naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS T cells - decreased total IgE level - increased	A ⇒ C	splice site		probably null
14	Rab27a	0.508	9	73044854-73097629 bp (+)	73075544	Unknown (1;0)	no Linkage result	2017-12-19 Anne Murray		A ⇒ C	missense		probably damaging	0.988
15	Map3k8	0.000	18	4331327-4353015 bp (-)	4339552	Autosomal Recessive (3;11)	excellent candidate	2017-09-11 Diantha La Vine	TLR signaling defect: hyposensitivity to LPS TLR signaling defect: hyposensitivity to PAM3CSK4 TLR signaling defect: TNF production by macrophages	A ⇒ C	missense		probably damaging	0.989
16	Pik3cd	0.958	4	149649168-149702571 bp (-)	149657319	Autosomal Recessive (2;18)	good candidate	2016-12-09 Katherine Timer	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 ⇒ C	missense		probably damaging	1.000
17	Krt33a	0.092	11	100011195-100016212 bp (-)	100012611	Unknown	no Linkage result	2016-05-13 Stephen Lyon		A ⇒ C	missense		probably damaging	1.000
18	Sox10	1.000	15	79154908-79165240 bp (-)	79163324	Unknown	no Linkage result	2016-05-13 Peter Jurek		A ⇒ C	missense		probably damaging	1.000
19	Atp11c	0.337	X	60223290-60592698 bp (-)	36608577	Unknown	no linkage results	2016-05-13 Stephen Lyon	anemia FACS B cells - decreased homeostasis/metabolism immune system	A ⇒ C	unclassified	2 bp	probably benign
[records 1 to 19 of 19]