Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01823:Ighv1-15'

154586

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-15

Ensembl Gene

ENSMUSG00000103254

Gene Name

immunoglobulin heavy variable 1-15

Synonyms

Gm16858

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

IGL01823

Quality Score

Status

Chromosome

Chromosomal Location

114620973-114621266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114621212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 38 (T38S)

Ref Sequence

ENSEMBL: ENSMUSP00000141908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000192077]

AlphaFold

A0A0A6YXA5

Predicted Effect

probably benign
Transcript: ENSMUST00000192077
AA Change: T38S

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141908
Gene: ENSMUSG00000103254
AA Change: T38S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	1.7e-29	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp6	A	G	13: 38,682,798 (GRCm39)	T460A	probably damaging	Het
Cd209a	T	C	8: 3,798,851 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,212,391 (GRCm39)	L1250P	probably damaging	Het
Evc	T	C	5: 37,485,865 (GRCm39)	N104D	probably damaging	Het
Fam161a	A	T	11: 22,965,785 (GRCm39)	E26V	probably damaging	Het
Foxa3	T	C	7: 18,748,443 (GRCm39)	T228A	probably benign	Het
Gm8206	A	T	14: 6,017,078 (GRCm38)	D133E	probably benign	Het
Ikzf1	A	G	11: 11,719,091 (GRCm39)	D266G	possibly damaging	Het
Man2a1	T	C	17: 64,973,819 (GRCm39)	I365T	probably damaging	Het
Mcm4	T	C	16: 15,443,995 (GRCm39)	D756G	probably damaging	Het
Mroh9	G	A	1: 162,883,178 (GRCm39)	L434F	probably benign	Het
Or13p4	A	G	4: 118,546,918 (GRCm39)	C244R	probably damaging	Het
Or14c45	T	C	7: 86,176,249 (GRCm39)	C95R	probably damaging	Het
Phldb2	T	A	16: 45,645,507 (GRCm39)	Y313F	probably damaging	Het
Psd4	A	G	2: 24,284,444 (GRCm39)	S103G	probably benign	Het
Ripk4	T	C	16: 97,556,483 (GRCm39)	I87V	possibly damaging	Het
Scn9a	A	T	2: 66,314,386 (GRCm39)	F1766L	probably damaging	Het
Slc10a5	A	T	3: 10,399,574 (GRCm39)	V362D	possibly damaging	Het
Slc12a3	A	G	8: 95,083,724 (GRCm39)	D917G	probably benign	Het
Slc30a4	A	G	2: 122,544,012 (GRCm39)	V110A	probably damaging	Het
Slc30a8	A	G	15: 52,159,358 (GRCm39)		probably benign	Het
Slc5a8	T	A	10: 88,755,334 (GRCm39)	C480*	probably null	Het
Tmppe	A	G	9: 114,234,175 (GRCm39)	K158R	probably benign	Het
Tubb6	A	G	18: 67,535,343 (GRCm39)	N414S	probably damaging	Het
Wnt8a	A	T	18: 34,677,846 (GRCm39)	T85S	possibly damaging	Het

Other mutations in Ighv1-15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5299:Ighv1-15	UTSW	12	114,620,998 (GRCm39)	missense	probably damaging	1.00
R7988:Ighv1-15	UTSW	12	114,621,116 (GRCm39)	missense	probably benign	0.12
R9195:Ighv1-15	UTSW	12	114,621,139 (GRCm39)	missense	probably benign
R9675:Ighv1-15	UTSW	12	114,620,981 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04