Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01112:Ighv6-3'

52461

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv6-3

Ensembl Gene

ENSMUSG00000076677

Gene Name

immunoglobulin heavy variable 6-3

Synonyms

Gm16930

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL01112

Quality Score

Status

Chromosome

Chromosomal Location

114355332-114355630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114355335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 118 (T118I)

Ref Sequence

ENSEMBL: ENSMUSP00000100267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103486]

AlphaFold

A0A075B5T2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103486
AA Change: T118I

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100267
Gene: ENSMUSG00000076677
AA Change: T118I

Domain	Start	End	E-Value	Type
IGv	36	119	1.53e-31	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	T	C	7: 144,190,882 (GRCm39)	I401V	possibly damaging	Het
Ap2a2	A	T	7: 141,184,932 (GRCm39)		probably benign	Het
Apol7c	T	A	15: 77,410,637 (GRCm39)	D103V	probably damaging	Het
Arid4a	T	C	12: 71,119,507 (GRCm39)		probably null	Het
Atp2a1	A	G	7: 126,049,479 (GRCm39)	V521A	probably benign	Het
Ccdc88c	G	T	12: 100,883,062 (GRCm39)	D1603E	probably benign	Het
Clec4f	T	C	6: 83,630,182 (GRCm39)	I125M	probably benign	Het
Dsc1	T	C	18: 20,227,679 (GRCm39)	I520V	probably benign	Het
Eomes	G	A	9: 118,311,334 (GRCm39)	A386T	probably damaging	Het
Gldc	C	T	19: 30,135,913 (GRCm39)		probably null	Het
Hectd4	G	T	5: 121,445,013 (GRCm39)	M1420I	probably benign	Het
Hmcn1	A	T	1: 150,508,303 (GRCm39)		probably benign	Het
Krt82	A	G	15: 101,453,958 (GRCm39)	F250S	probably damaging	Het
Ltb	A	G	17: 35,413,576 (GRCm39)	T27A	probably benign	Het
Mex3b	T	A	7: 82,518,911 (GRCm39)	S409T	probably benign	Het
Mki67	A	T	7: 135,315,745 (GRCm39)	I39N	probably damaging	Het
Or51a7	A	G	7: 102,615,235 (GRCm39)		probably benign	Het
Palmd	A	G	3: 116,717,922 (GRCm39)	S192P	probably damaging	Het
Pcdh20	A	T	14: 88,704,636 (GRCm39)	M888K	probably benign	Het
Pclo	A	T	5: 14,731,083 (GRCm39)	H3195L	unknown	Het
Pgm2	A	T	5: 64,260,225 (GRCm39)	I137F	possibly damaging	Het
Polq	T	A	16: 36,837,671 (GRCm39)	N194K	probably damaging	Het
Rmnd1	T	C	10: 4,360,793 (GRCm39)		probably null	Het
Rnf114	T	C	2: 167,354,459 (GRCm39)	M180T	probably damaging	Het
Sap30	A	G	8: 57,938,123 (GRCm39)	F165L	possibly damaging	Het
Scgb3a2	T	A	18: 43,900,059 (GRCm39)		probably benign	Het
Sftpa1	A	T	14: 40,854,527 (GRCm39)	N38I	probably benign	Het
Sumf1	A	G	6: 108,152,977 (GRCm39)	F137S	probably damaging	Het
Tln2	C	A	9: 67,219,093 (GRCm39)	R284L	probably damaging	Het
Ttn	C	T	2: 76,570,703 (GRCm39)	R26730Q	probably damaging	Het
Ttn	T	A	2: 76,540,808 (GRCm39)	R25732S	probably damaging	Het
Tubgcp4	T	C	2: 121,004,082 (GRCm39)	V41A	probably benign	Het
Usp53	T	A	3: 122,751,367 (GRCm39)	Q230L	probably damaging	Het
Vmn2r57	T	C	7: 41,074,467 (GRCm39)	E532G	probably damaging	Het
Vps9d1	G	T	8: 123,972,769 (GRCm39)	N454K	probably damaging	Het
Wdr55	T	C	18: 36,895,132 (GRCm39)		probably null	Het
Zfp263	T	A	16: 3,566,776 (GRCm39)	C76S	probably benign	Het

Other mutations in Ighv6-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02396:Ighv6-3	APN	12	114,355,356 (GRCm39)	missense	probably damaging	0.99
R4235:Ighv6-3	UTSW	12	114,355,494 (GRCm39)	missense	probably damaging	1.00
R5111:Ighv6-3	UTSW	12	114,355,394 (GRCm39)	missense	probably benign	0.19
R7184:Ighv6-3	UTSW	12	114,355,475 (GRCm39)	missense	probably benign	0.04
R9280:Ighv6-3	UTSW	12	114,355,420 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-06-21