Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01414:Ighv1-66'

80162

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-66

Ensembl Gene

ENSMUSG00000095519

Gene Name

immunoglobulin heavy variable 1-66

Synonyms

Gm16901

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

IGL01414

Quality Score

Status

Chromosome

Chromosomal Location

115556730-115557023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115556929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 51 (Y51C)

Ref Sequence

ENSEMBL: ENSMUSP00000100318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103537]

AlphaFold

A0A075B5X5

Predicted Effect

probably benign
Transcript: ENSMUST00000103537
AA Change: Y51C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100318
Gene: ENSMUSG00000095519
AA Change: Y51C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	2.17e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200554

Meta Mutation Damage Score

0.0898

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	C	T	4: 156,279,696 (GRCm39)		probably null	Het
Arhgap45	T	A	10: 79,862,938 (GRCm39)	S705T	probably damaging	Het
B4galt4	A	G	16: 38,578,153 (GRCm39)	E200G	probably damaging	Het
Cdh12	A	T	15: 21,492,775 (GRCm39)	N265Y	probably damaging	Het
Cerk	T	A	15: 86,043,343 (GRCm39)	T153S	probably benign	Het
Ect2	A	T	3: 27,181,878 (GRCm39)		probably benign	Het
Ep300	T	A	15: 81,511,467 (GRCm39)		probably benign	Het
Gm26920	T	G	7: 29,767,503 (GRCm39)		probably benign	Het
Ints1	T	C	5: 139,744,253 (GRCm39)	D1503G	probably benign	Het
Lhpp	A	G	7: 132,244,249 (GRCm39)	K189E	probably damaging	Het
Myh13	A	G	11: 67,233,298 (GRCm39)	T606A	probably benign	Het
Naip1	T	C	13: 100,545,681 (GRCm39)		probably null	Het
Nckap5	G	T	1: 126,456,450 (GRCm39)	Q38K	probably damaging	Het
Nlgn3	A	G	X: 100,345,866 (GRCm39)	I93V	probably benign	Het
Nxpe2	A	G	9: 48,231,923 (GRCm39)	F345L	probably benign	Het
Pcdhb22	A	G	18: 37,652,549 (GRCm39)	N339S	probably damaging	Het
Rbbp7	T	A	X: 161,557,577 (GRCm39)	I322N	probably damaging	Het
Rigi	C	A	4: 40,222,176 (GRCm39)	V368F	probably damaging	Het
Rprd2	A	T	3: 95,672,837 (GRCm39)	F855L	probably damaging	Het
Scin	A	T	12: 40,174,698 (GRCm39)	H128Q	probably damaging	Het
Sema4g	A	G	19: 44,986,435 (GRCm39)	Y337C	probably damaging	Het
Stx6	C	T	1: 155,077,691 (GRCm39)	R233C	possibly damaging	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Trem3	G	T	17: 48,556,843 (GRCm39)	V105L	probably benign	Het
Vmn2r108	T	A	17: 20,691,942 (GRCm39)	M194L	probably benign	Het
Zfyve16	A	T	13: 92,658,704 (GRCm39)	D402E	probably benign	Het

Other mutations in Ighv1-66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4424:Ighv1-66	UTSW	12	115,557,157 (GRCm39)	missense	probably damaging	0.97
R4584:Ighv1-66	UTSW	12	115,557,016 (GRCm39)	missense	possibly damaging	0.93
R4691:Ighv1-66	UTSW	12	115,556,929 (GRCm39)	missense	probably benign	0.26
R5522:Ighv1-66	UTSW	12	115,556,755 (GRCm39)	missense	probably damaging	1.00
R6514:Ighv1-66	UTSW	12	115,556,740 (GRCm39)	missense	possibly damaging	0.60
R7030:Ighv1-66	UTSW	12	115,557,157 (GRCm39)	missense	probably damaging	0.97
R8480:Ighv1-66	UTSW	12	115,557,002 (GRCm39)	missense	possibly damaging	0.74
R8887:Ighv1-66	UTSW	12	115,557,032 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05