Mutagenetix > Incidental Mutation

Incidental Mutation 'R4877:Ms4a1'

375028

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

042486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4877 (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 11231857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 173 (S173T)

Ref Sequence

ENSEMBL: ENSMUSP00000126422 (fasta)

Gene Model

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

AlphaFold

P19437

Predicted Effect

probably damaging
Transcript: ENSMUST00000169159
AA Change: S173T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126422
Gene: ENSMUSG00000024673
AA Change: S173T

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

0.4411

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (76/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,421 (GRCm39)	Y475H	probably damaging	Het
Adamts12	G	T	15: 11,327,787 (GRCm39)	G1388V	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Arhgap26	T	C	18: 39,429,982 (GRCm39)		probably null	Het
Atp7b	T	A	8: 22,518,617 (GRCm39)	I74F	probably damaging	Het
Bod1l	A	G	5: 41,977,337 (GRCm39)	Y1326H	probably benign	Het
Card11	T	C	5: 140,871,632 (GRCm39)	S690G	probably damaging	Het
Cbx3	A	G	6: 51,459,540 (GRCm39)	E169G	possibly damaging	Het
Cd28	A	T	1: 60,808,861 (GRCm39)	M192L	possibly damaging	Het
Chd6	T	C	2: 160,871,219 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,866,056 (GRCm39)	C179Y	probably damaging	Het
Cyp7b1	A	T	3: 18,151,457 (GRCm39)	V252E	probably damaging	Het
Dcp2	G	T	18: 44,550,659 (GRCm39)	G378C	probably benign	Het
Dip2b	A	T	15: 100,058,410 (GRCm39)	I196L	possibly damaging	Het
Erbin	G	A	13: 103,987,346 (GRCm39)	P405S	probably damaging	Het
Etv1	A	G	12: 38,881,292 (GRCm39)		probably null	Het
F830104G03Rik	T	G	3: 56,797,917 (GRCm39)	K33T	unknown	Het
Fbln2	C	A	6: 91,210,477 (GRCm39)	H140Q	probably damaging	Het
Fxr1	A	G	3: 34,101,847 (GRCm39)	T109A	probably damaging	Het
Gm10110	T	C	14: 90,134,785 (GRCm39)		noncoding transcript	Het
Gm9949	C	T	18: 62,317,140 (GRCm39)		probably benign	Het
Grin2d	A	G	7: 45,504,039 (GRCm39)	L604P	probably damaging	Het
Gstcd	A	T	3: 132,711,314 (GRCm39)		probably benign	Het
Ifna16	A	G	4: 88,594,681 (GRCm39)	V138A	probably benign	Het
Itpr2	T	A	6: 146,226,703 (GRCm39)	N1314I	probably damaging	Het
Kitl	T	C	10: 99,916,728 (GRCm39)	V177A	probably damaging	Het
L3mbtl1	A	T	2: 162,790,488 (GRCm39)	Q185L	probably damaging	Het
Lhx9	T	A	1: 138,766,092 (GRCm39)	N232I	probably benign	Het
Lnx1	T	C	5: 74,788,784 (GRCm39)	R111G	probably benign	Het
Lrrc41	A	G	4: 115,936,602 (GRCm39)	I72M	probably damaging	Het
Lrriq1	T	A	10: 103,069,899 (GRCm39)	D39V	possibly damaging	Het
Lyrm7	A	G	11: 54,731,936 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,857,734 (GRCm39)	Y2508N	probably damaging	Het
Masp2	A	T	4: 148,687,328 (GRCm39)	Y70F	probably benign	Het
Mc4r	T	C	18: 66,992,409 (GRCm39)	I235V	probably benign	Het
Med12l	G	A	3: 59,152,214 (GRCm39)	V1000M	probably damaging	Het
Morc2b	T	C	17: 33,357,712 (GRCm39)	H20R	probably benign	Het
Myh13	A	C	11: 67,228,477 (GRCm39)	D339A	probably damaging	Het
Nars1	A	T	18: 64,633,643 (GRCm39)	Y542*	probably null	Het
Nectin2	G	A	7: 19,451,645 (GRCm39)	T463I	possibly damaging	Het
Nrg4	A	G	9: 55,166,679 (GRCm39)	F64L	probably benign	Het
Nrxn1	T	A	17: 91,395,605 (GRCm39)	I184F	probably benign	Het
Nxph2	C	T	2: 23,289,846 (GRCm39)	P66L	probably benign	Het
Or10ag2	C	T	2: 87,248,907 (GRCm39)	Q170*	probably null	Het
Or2v1	C	A	11: 49,025,608 (GRCm39)	F196L	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Patj	A	G	4: 98,457,295 (GRCm39)	I48V	possibly damaging	Het
Paxbp1	T	C	16: 90,841,199 (GRCm39)		probably benign	Het
Pou2f3	A	T	9: 43,050,618 (GRCm39)	N235K	possibly damaging	Het
Ppp2r2c	A	G	5: 37,026,214 (GRCm39)	D17G	probably damaging	Het
Rgs8	A	G	1: 153,568,633 (GRCm39)		probably benign	Het
Rnd3	A	G	2: 51,038,762 (GRCm39)	V42A	probably damaging	Het
Rp1l1	A	G	14: 64,263,620 (GRCm39)	R247G	probably benign	Het
Sec31b	A	T	19: 44,524,172 (GRCm39)	V156D	probably damaging	Het
Slc22a2	T	A	17: 12,833,702 (GRCm39)	Y461N	possibly damaging	Het
Spag6l	T	C	16: 16,599,622 (GRCm39)	K280R	possibly damaging	Het
Spata31d1a	A	G	13: 59,850,337 (GRCm39)	L597P	probably damaging	Het
Srr	G	T	11: 74,798,606 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Tgif1	A	C	17: 71,156,700 (GRCm39)		probably null	Het
Tle3	A	T	9: 61,280,781 (GRCm39)		probably benign	Het
Tubgcp4	A	G	2: 121,020,343 (GRCm39)	T439A	probably benign	Het
Twist1	C	T	12: 34,008,350 (GRCm39)	T125M	probably damaging	Het
Unc13a	T	A	8: 72,111,260 (GRCm39)	D317V	possibly damaging	Het
Vmn1r227	T	A	17: 20,955,407 (GRCm39)		noncoding transcript	Het
Vps72	G	T	3: 95,025,498 (GRCm39)		probably benign	Het
Zfp184	T	C	13: 22,144,498 (GRCm39)	S735P	possibly damaging	Het
Zfp42	A	T	8: 43,748,725 (GRCm39)	C259S	possibly damaging	Het
Zmiz2	A	G	11: 6,353,251 (GRCm39)	H678R	probably damaging	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
R5089:Ms4a1	UTSW	19	11,236,176 (GRCm39)	missense	probably benign	0.01
R5903:Ms4a1	UTSW	19	11,235,612 (GRCm39)	missense	probably damaging	1.00
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'- GATGAATAGACAGCATTAGACCACC -3'
(R):5'- GCCTCTGTTTCAGGTCAAAGC -3'

Sequencing Primer
(F):5'- CAAATGACACTGTTCTAAGGGTG -3'
(R):5'- CCTCTGTTTCAGGTCAAAGCAAAAG -3'

Posted On

2016-03-17