Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02895:Ighv1-39'

363371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-39

Ensembl Gene

ENSMUSG00000095130

Gene Name

immunoglobulin heavy variable 1-39

Synonyms

Gm16964

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

IGL02895

Quality Score

Status

Chromosome

Chromosomal Location

114878219-114878512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114878302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 90 (T90A)

Ref Sequence

ENSEMBL: ENSMUSP00000100296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103515]

AlphaFold

A0A075B5V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103515
AA Change: T90A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100296
Gene: ENSMUSG00000095130
AA Change: T90A

Domain	Start	End	E-Value	Type
IGv	36	117	1.17e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192755

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	T	1: 179,621,376 (GRCm39)	E130K	probably damaging	Het
Atf7ip	C	A	6: 136,537,686 (GRCm39)	S306R	probably damaging	Het
Cpd	A	G	11: 76,676,029 (GRCm39)	V1208A	probably benign	Het
Cplane1	A	G	15: 8,261,591 (GRCm39)		probably benign	Het
Ctsl	C	T	13: 64,514,326 (GRCm39)	A195T	probably damaging	Het
Dennd2c	T	C	3: 103,044,519 (GRCm39)	Y367H	possibly damaging	Het
Endod1	T	A	9: 14,268,166 (GRCm39)	T440S	probably benign	Het
Gm12695	T	C	4: 96,612,186 (GRCm39)	R526G	probably damaging	Het
Kdm2a	G	A	19: 4,412,930 (GRCm39)	R19C	probably damaging	Het
Klra1	C	T	6: 130,352,203 (GRCm39)	E180K	possibly damaging	Het
Odam	A	G	5: 88,033,723 (GRCm39)	Q21R	probably benign	Het
Or4c11c	A	G	2: 88,661,986 (GRCm39)	Y175C	probably damaging	Het
Or8b8	G	A	9: 37,809,278 (GRCm39)	V193I	probably benign	Het
Plk1	A	G	7: 121,768,389 (GRCm39)	E504G	possibly damaging	Het
Rtl3	T	C	X: 105,883,150 (GRCm39)	I37M	possibly damaging	Het
Srebf2	A	G	15: 82,031,668 (GRCm39)	E22G	possibly damaging	Het
Tmem74b	A	G	2: 151,548,311 (GRCm39)	S13G	probably benign	Het
Utp14b	T	C	1: 78,642,324 (GRCm39)	V74A	possibly damaging	Het
Znrf3	T	C	11: 5,239,085 (GRCm39)	M93V	probably damaging	Het

Other mutations in Ighv1-39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3982:Ighv1-39	UTSW	12	114,878,251 (GRCm39)	missense	possibly damaging	0.87
R6345:Ighv1-39	UTSW	12	114,878,479 (GRCm39)	missense	possibly damaging	0.79
R7387:Ighv1-39	UTSW	12	114,878,488 (GRCm39)	missense	probably benign	0.06

Posted On

2015-12-18