Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00330:Ms4a6c'

5684

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ms4a6c

Ensembl Gene

ENSMUSG00000079419

Gene Name

membrane-spanning 4-domains, subfamily A, member 6C

Synonyms

2200009H22Rik, 2210417N07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL00330

Quality Score

Status

Chromosome

Chromosomal Location

11446730-11459556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11455676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 162 (Y162H)

Ref Sequence

ENSEMBL: ENSMUSP00000132425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165310]

AlphaFold

Q99N08

Predicted Effect

probably benign
Transcript: ENSMUST00000165310
AA Change: Y162H

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000132425
Gene: ENSMUSG00000079419
AA Change: Y162H

Domain	Start	End	E-Value	Type
Pfam:CD20	47	207	3.2e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189306

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	T	G	1: 192,857,087 (GRCm39)	D146E	probably benign	Het
Alpi	A	T	1: 87,027,442 (GRCm39)	L308Q	probably damaging	Het
Bhmt2	A	T	13: 93,803,279 (GRCm39)		probably benign	Het
Bsn	T	C	9: 107,992,539 (GRCm39)	E1071G	probably damaging	Het
Car3	A	T	3: 14,933,439 (GRCm39)	N128Y	probably benign	Het
Cdkl2	C	T	5: 92,165,236 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cul9	T	C	17: 46,821,767 (GRCm39)		probably benign	Het
Gpr149	T	G	3: 62,438,094 (GRCm39)	I688L	probably damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Kif19a	G	A	11: 114,670,411 (GRCm39)	G107D	probably damaging	Het
Loxhd1	A	C	18: 77,483,146 (GRCm39)	R1242S	probably damaging	Het
Msrb2	G	T	2: 19,376,510 (GRCm39)	R6L	unknown	Het
Myh2	A	G	11: 67,084,266 (GRCm39)	N1630D	probably benign	Het
Myrf	A	G	19: 10,201,877 (GRCm39)	V200A	probably benign	Het
Ncor2	A	G	5: 125,119,807 (GRCm39)		probably null	Het
Nrg1	T	A	8: 32,308,117 (GRCm39)	Q621L	probably damaging	Het
Or11h6	G	A	14: 50,880,625 (GRCm39)	A296T	probably benign	Het
Or5bw2	A	T	7: 6,573,667 (GRCm39)	I226F	possibly damaging	Het
Pfkp	A	G	13: 6,669,586 (GRCm39)	F211S	probably damaging	Het
Pramex1	T	C	X: 134,515,258 (GRCm39)	N273S	probably benign	Het
Prss1l	T	C	6: 41,371,707 (GRCm39)	L51P	probably damaging	Het
Pwwp3b	A	G	X: 138,136,443 (GRCm39)	D327G	probably damaging	Het
Rnh1	G	A	7: 140,746,644 (GRCm39)	A49V	possibly damaging	Het
Serhl	C	T	15: 82,988,574 (GRCm39)	S167F	probably benign	Het
Skint1	T	C	4: 111,878,777 (GRCm39)		probably null	Het
Taar7b	A	C	10: 23,876,740 (GRCm39)	I302L	probably benign	Het
Tasor2	A	G	13: 3,624,832 (GRCm39)	F1706S	probably benign	Het
Zfp106	G	A	2: 120,369,978 (GRCm39)	P15S	probably benign	Het
Zfp385b	T	C	2: 77,307,122 (GRCm39)	Q167R	probably damaging	Het
Zfp800	T	A	6: 28,243,037 (GRCm39)	T643S	probably benign	Het

Other mutations in Ms4a6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02053:Ms4a6c	APN	19	11,455,586 (GRCm39)	missense	probably benign	0.31
IGL02651:Ms4a6c	APN	19	11,455,669 (GRCm39)	missense	possibly damaging	0.46
IGL02941:Ms4a6c	APN	19	11,448,466 (GRCm39)	utr 5 prime	probably benign
R0962:Ms4a6c	UTSW	19	11,448,506 (GRCm39)	missense	probably benign	0.01
R5434:Ms4a6c	UTSW	19	11,448,588 (GRCm39)	missense	probably benign	0.01
R5592:Ms4a6c	UTSW	19	11,458,496 (GRCm39)	intron	probably benign
R5592:Ms4a6c	UTSW	19	11,457,641 (GRCm39)	intron	probably benign
R5594:Ms4a6c	UTSW	19	11,455,537 (GRCm39)	missense	probably benign	0.38
R5945:Ms4a6c	UTSW	19	11,457,863 (GRCm39)	intron	probably benign
R6214:Ms4a6c	UTSW	19	11,448,500 (GRCm39)	missense	possibly damaging	0.86
R7349:Ms4a6c	UTSW	19	11,455,555 (GRCm39)	missense	probably damaging	1.00
R7484:Ms4a6c	UTSW	19	11,449,893 (GRCm39)	critical splice donor site	probably null
R8293:Ms4a6c	UTSW	19	11,455,660 (GRCm39)	missense	probably benign
R9442:Ms4a6c	UTSW	19	11,449,851 (GRCm39)	missense	probably benign	0.31

Posted On

2012-04-20