Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01948:Ms4a5'

180992

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ms4a5

Ensembl Gene

ENSMUSG00000054523

Gene Name

membrane-spanning 4-domains, subfamily A, member 5

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01948

Quality Score

Status

Chromosome

Chromosomal Location

11251514-11261259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 11256717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 60 (M60R)

Ref Sequence

ENSEMBL: ENSMUSP00000139493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067673] [ENSMUST00000186937] [ENSMUST00000188267]

AlphaFold

Q810P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000067673
AA Change: M60R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066960
Gene: ENSMUSG00000054523
AA Change: M60R

Domain	Start	End	E-Value	Type
Pfam:CD20	49	189	1.6e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181137

Predicted Effect

probably benign
Transcript: ENSMUST00000186937

SMART Domains

Protein: ENSMUSP00000139805
Gene: ENSMUSG00000054523

Domain	Start	End	E-Value	Type
Pfam:CD20	50	146	4.8e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188267
AA Change: M60R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139493
Gene: ENSMUSG00000054523
AA Change: M60R

Domain	Start	End	E-Value	Type
Pfam:CD20	49	100	4.8e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191110

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	C	5: 3,627,326 (GRCm39)	F101L	probably damaging	Het
Cacna1d	T	C	14: 29,846,751 (GRCm39)	T552A	probably damaging	Het
Ccdc81	T	C	7: 89,525,063 (GRCm39)	D506G	possibly damaging	Het
Fam186b	T	C	15: 99,178,327 (GRCm39)	H333R	probably benign	Het
Fam222b	T	C	11: 78,045,165 (GRCm39)	V242A	probably damaging	Het
Gabra2	A	G	5: 71,119,228 (GRCm39)	F425L	probably damaging	Het
Gm10717	A	T	9: 3,025,819 (GRCm39)	T135S	probably damaging	Het
Gm8104	A	T	14: 42,966,607 (GRCm39)	M120L	probably benign	Het
Gsdmc	T	C	15: 63,650,430 (GRCm39)	D308G	probably damaging	Het
Hook3	T	A	8: 26,549,340 (GRCm39)	E168V	possibly damaging	Het
Ighv5-17	T	A	12: 113,823,046 (GRCm39)	E25V	probably damaging	Het
Imp4	T	G	1: 34,483,356 (GRCm39)		probably benign	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Prokr2	G	T	2: 132,215,603 (GRCm39)	A286E	probably damaging	Het
Ranbp9	T	A	13: 43,576,029 (GRCm39)	Q226L	probably damaging	Het
Scara3	A	G	14: 66,168,261 (GRCm39)	V452A	probably damaging	Het
Tmem38b	C	T	4: 53,850,530 (GRCm39)	P171S	probably damaging	Het
Zdhhc17	G	T	10: 110,782,137 (GRCm39)	T519K	possibly damaging	Het

Other mutations in Ms4a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Ms4a5	APN	19	11,261,142 (GRCm39)	missense	probably benign	0.33
IGL03341:Ms4a5	APN	19	11,256,742 (GRCm39)	missense	probably benign	0.03
R0420:Ms4a5	UTSW	19	11,261,018 (GRCm39)	missense	probably damaging	0.97
R2126:Ms4a5	UTSW	19	11,256,732 (GRCm39)	missense	probably damaging	1.00
R6457:Ms4a5	UTSW	19	11,256,646 (GRCm39)	missense	probably benign	0.01
R9190:Ms4a5	UTSW	19	11,256,733 (GRCm39)	missense	probably damaging	1.00
R9688:Ms4a5	UTSW	19	11,254,058 (GRCm39)	missense	possibly damaging	0.94
R9689:Ms4a5	UTSW	19	11,254,058 (GRCm39)	missense	possibly damaging	0.94

Posted On

2014-05-07