Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01966:Gm12588'

181536

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm12588

Ensembl Gene

Gene Name

predicted gene 12588

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01966

Quality Score

Status

Chromosome

Chromosomal Location

(GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121797561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 96 (I96N)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000142242
AA Change: I96N

PolyPhen 2 Score 0.160 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118445
Gene: ENSMUSG00000062632
AA Change: I96N

Domain	Start	End	E-Value	Type
KRAB	4	60	1.43e-10	SMART
ZnF_C2H2	131	153	5.77e0	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	2.09e-3	SMART
ZnF_C2H2	215	237	5.99e-4	SMART
ZnF_C2H2	243	265	2.43e-4	SMART
ZnF_C2H2	271	293	5.9e-3	SMART
ZnF_C2H2	299	321	2.95e-3	SMART
ZnF_C2H2	327	349	2.09e-3	SMART
ZnF_C2H2	355	377	2.79e-4	SMART
ZnF_C2H2	383	405	2.99e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	A	G	4: 155,818,526 (GRCm39)		probably null	Het
Acer2	T	A	4: 86,835,815 (GRCm39)	*230R	probably null	Het
Adamts12	A	G	15: 11,258,269 (GRCm39)	K527E	probably damaging	Het
Anks1b	C	A	10: 90,730,994 (GRCm39)	R937S	probably damaging	Het
C2cd5	G	T	6: 142,957,767 (GRCm39)	C989*	probably null	Het
Calhm5	T	C	10: 33,972,129 (GRCm39)	H102R	probably benign	Het
Col14a1	A	G	15: 55,312,121 (GRCm39)		probably benign	Het
Cramp1	T	A	17: 25,201,917 (GRCm39)	T522S	probably benign	Het
Cyp2c70	A	T	19: 40,142,016 (GRCm39)		probably benign	Het
Elmod1	T	A	9: 53,828,611 (GRCm39)	I224F	probably benign	Het
Emx2	T	A	19: 59,448,021 (GRCm39)	I24N	possibly damaging	Het
Fga	A	T	3: 82,936,461 (GRCm39)	I86F	probably damaging	Het
Fig4	C	A	10: 41,108,098 (GRCm39)		probably null	Het
Gm10234	T	C	6: 95,299,118 (GRCm39)		probably null	Het
Grm3	A	G	5: 9,561,486 (GRCm39)	I788T	probably damaging	Het
Homer3	A	G	8: 70,742,807 (GRCm39)	K173E	probably damaging	Het
Kansl1l	A	G	1: 66,777,227 (GRCm39)	V635A	probably damaging	Het
Kctd3	C	T	1: 188,724,859 (GRCm39)	G241R	probably damaging	Het
Krt8	G	T	15: 101,906,105 (GRCm39)	S423R	probably benign	Het
Lrrc24	C	A	15: 76,602,511 (GRCm39)	A125S	probably benign	Het
Muc4	T	C	16: 32,570,244 (GRCm39)	S435P	possibly damaging	Het
Nfkb2	G	A	19: 46,298,129 (GRCm39)	G502D	probably benign	Het
Nlrp6	G	A	7: 140,505,103 (GRCm39)	C750Y	probably damaging	Het
Or8b1b	A	T	9: 38,376,225 (GRCm39)	D296V	possibly damaging	Het
Oxsm	T	C	14: 16,242,520 (GRCm38)	N83S	probably benign	Het
Paqr3	A	G	5: 97,247,502 (GRCm39)	L202P	probably benign	Het
Pcdh10	T	A	3: 45,334,733 (GRCm39)	L349Q	probably benign	Het
Ptdss2	A	G	7: 140,715,304 (GRCm39)	T29A	possibly damaging	Het
Rbbp8nl	G	A	2: 179,922,782 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,272,789 (GRCm39)		probably benign	Het
Ric1	A	T	19: 29,572,963 (GRCm39)	Y801F	probably benign	Het
Sgcz	A	T	8: 38,107,169 (GRCm39)	S114R	probably damaging	Het
Tenm4	A	G	7: 96,202,757 (GRCm39)	D124G	probably damaging	Het
Zscan22	T	G	7: 12,640,398 (GRCm39)	M214R	probably benign	Het

Other mutations in Gm12588

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Gm12588	APN	11	121,798,777 (GRCm39)
IGL02234:Gm12588	APN	11	121,799,151 (GRCm39)
R2346:Gm12588	UTSW	11	121,796,994 (GRCm39)	missense	probably benign	0.01
R3691:Gm12588	UTSW	11	121,796,751 (GRCm39)	missense	possibly damaging	0.95

Posted On

2014-05-07