Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Ms4a1'

456473

Institutional Source

Beutler Lab

Gene Symbol

Ms4a1

Ensembl Gene

ENSMUSG00000024673

Gene Name

membrane-spanning 4-domains, subfamily A, member 1

Synonyms

Ly-44, Cd20

MMRRC Submission

044101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11227043-11243513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11235612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 48 (V48D)

Ref Sequence

ENSEMBL: ENSMUSP00000126422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169159]

AlphaFold

P19437

Predicted Effect

probably damaging
Transcript: ENSMUST00000169159
AA Change: V48D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126422
Gene: ENSMUSG00000024673
AA Change: V48D

Domain	Start	End	E-Value	Type
Pfam:CD20	44	210	3.8e-48	PFAM
low complexity region	253	271	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187379

Meta Mutation Damage Score

0.8748

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

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. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus affects B cell physiology but does not impair B cell development or overall immune function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 66,145,661 (GRCm39)	V150A	unknown	Het
Abraxas1	T	C	5: 100,965,824 (GRCm39)		probably null	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atg2b	T	C	12: 105,605,618 (GRCm39)	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,683,254 (GRCm39)	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,789,343 (GRCm39)	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760 (GRCm39)	D347G	probably damaging	Het
Baz2b	C	T	2: 59,790,233 (GRCm39)	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,896,801 (GRCm39)	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,002,837 (GRCm39)	Q745*	probably null	Het
Cep97	G	A	16: 55,739,889 (GRCm39)	S185L	probably damaging	Het
Clec4d	A	G	6: 123,244,020 (GRCm39)	H43R	probably damaging	Het
Cntn3	T	A	6: 102,219,094 (GRCm39)	M509L	probably benign	Het
Cntrob	A	C	11: 69,200,201 (GRCm39)	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,395,514 (GRCm39)	N37I	possibly damaging	Het
Edc4	A	G	8: 106,617,219 (GRCm39)	T1029A	probably benign	Het
Fhip2b	A	T	14: 70,829,121 (GRCm39)	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,062,270 (GRCm39)		probably null	Het
Fzd6	T	A	15: 38,870,783 (GRCm39)	M1K	probably null	Het
Gle1	C	A	2: 29,830,293 (GRCm39)	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,215,386 (GRCm39)	V161A	probably damaging	Het
Hsf2	T	C	10: 57,380,819 (GRCm39)	S218P	probably benign	Het
Ipo7	T	A	7: 109,650,020 (GRCm39)	C736S	probably damaging	Het
Itpkb	G	T	1: 180,241,540 (GRCm39)	V737L	probably damaging	Het
Itpr1	T	C	6: 108,466,758 (GRCm39)		probably benign	Het
Kcnh8	G	T	17: 53,110,364 (GRCm39)	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,518,523 (GRCm39)		probably benign	Het
Kdm3a	C	A	6: 71,609,234 (GRCm39)		probably benign	Het
Kif5a	T	A	10: 127,066,447 (GRCm39)	M990L	probably benign	Het
Klf12	A	G	14: 100,260,124 (GRCm39)	S202P	probably damaging	Het
Krt81	T	G	15: 101,358,083 (GRCm39)	Q390P	probably damaging	Het
Lrig3	T	C	10: 125,844,347 (GRCm39)	S604P	probably damaging	Het
Mta1	C	T	12: 113,100,239 (GRCm39)	P688L	probably damaging	Het
Oas1h	T	C	5: 121,009,040 (GRCm39)	V250A	probably damaging	Het
Or10c1	A	T	17: 37,521,912 (GRCm39)	Y277*	probably null	Het
Or52z13	G	T	7: 103,247,128 (GRCm39)	G202*	probably null	Het
P2rx3	T	C	2: 84,831,071 (GRCm39)	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,333,718 (GRCm39)	I101T	possibly damaging	Het
Psme4	A	T	11: 30,791,589 (GRCm39)	N1148I	probably benign	Het
Rnf213	T	C	11: 119,312,195 (GRCm39)	L874P	probably damaging	Het
Sart3	T	C	5: 113,889,300 (GRCm39)	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,569,305 (GRCm39)		probably benign	Het
Slc9b1	C	T	3: 135,098,655 (GRCm39)		probably benign	Het
Stmn3	T	C	2: 180,950,573 (GRCm39)	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,301,389 (GRCm39)	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,386,242 (GRCm39)	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,113,993 (GRCm39)	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Unc5a	T	A	13: 55,147,503 (GRCm39)	C438S	possibly damaging	Het
Zan	C	A	5: 137,440,396 (GRCm39)	C1946F	unknown	Het

Other mutations in Ms4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Ms4a1	APN	19	11,231,923 (GRCm39)	missense	probably benign	0.17
bilious	UTSW	19	11,230,542 (GRCm39)	critical splice donor site	probably null
Chartreuse	UTSW	19	11,235,612 (GRCm39)	missense	probably damaging	1.00
Paris_green	UTSW	19	11,233,933 (GRCm39)	splice site	probably null
IGL03097:Ms4a1	UTSW	19	11,230,556 (GRCm39)	missense	probably benign	0.00
R0437:Ms4a1	UTSW	19	11,233,933 (GRCm39)	splice site	probably null
R0518:Ms4a1	UTSW	19	11,236,043 (GRCm39)	splice site	probably null
R0521:Ms4a1	UTSW	19	11,236,043 (GRCm39)	splice site	probably null
R0704:Ms4a1	UTSW	19	11,230,596 (GRCm39)	missense	probably benign	0.01
R1532:Ms4a1	UTSW	19	11,230,557 (GRCm39)	missense	probably benign
R4877:Ms4a1	UTSW	19	11,231,857 (GRCm39)	missense	probably damaging	0.99
R5089:Ms4a1	UTSW	19	11,236,176 (GRCm39)	missense	probably benign	0.01
R5981:Ms4a1	UTSW	19	11,229,180 (GRCm39)	missense	probably benign	0.02
R6366:Ms4a1	UTSW	19	11,236,062 (GRCm39)	missense	probably damaging	1.00
R6805:Ms4a1	UTSW	19	11,230,537 (GRCm39)	splice site	probably null
R6864:Ms4a1	UTSW	19	11,230,542 (GRCm39)	critical splice donor site	probably null
R8985:Ms4a1	UTSW	19	11,232,055 (GRCm39)	missense	probably benign	0.00
R9052:Ms4a1	UTSW	19	11,233,954 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGCCTCGTAGTGTAGTCTACC -3'
(R):5'- AAAATGCCCTCTGTGGTGGG -3'

Sequencing Primer
(F):5'- CACAGAACAACTTAGATCTTTTGGGC -3'
(R):5'- CCCTCTGTGGTGGGAGAGAG -3'

Posted On

2017-02-15