Mutagenetix > Incidental Mutation

Incidental Mutation 'R1546:Ms4a3'

172226

Institutional Source

Beutler Lab

Gene Symbol

Ms4a3

Ensembl Gene

ENSMUSG00000024681

Gene Name

membrane-spanning 4-domains, subfamily A, member 3

Synonyms

haematopoietic cell-specific transmembrane-4, HTm4

MMRRC Submission

039585-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11606863-11618215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11610271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 97 (N97S)

Ref Sequence

ENSEMBL: ENSMUSP00000140508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112984] [ENSMUST00000186023]

AlphaFold

Q920C4

Predicted Effect

probably benign
Transcript: ENSMUST00000112984
AA Change: N97S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: N97S

Domain	Start	End	E-Value	Type
Pfam:CD20	27	172	2.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186023
AA Change: N97S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: N97S

Domain	Start	End	E-Value	Type
Pfam:CD20	27	172	9.5e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190642

Meta Mutation Damage Score

0.0640

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.2%

Validation Efficiency

MGI Phenotype

FUNCTION: Summary:This gene encodes a member of the membrane-spanning-four (MS4) protein group, that contain a four-transmembrane protein structure. This gene is expressed in developing hematopoietic cells and has also been observed in some regions of the adult brain. Expression of the human ortholog of this gene has also been observed in some human cancer cell lines. This protein may play a role in cell cycle regulation, and interactions have been demonstrated between Ms4a3 and KAP phosphatase. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,026,232 (GRCm39)	S251P	probably damaging	Het
Aaas	C	A	15: 102,255,153 (GRCm39)	R79L	probably benign	Het
Acap2	C	A	16: 30,923,754 (GRCm39)	E657*	probably null	Het
Adgrg5	A	T	8: 95,668,258 (GRCm39)	E441V	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
AY358078	C	T	14: 52,057,876 (GRCm39)		probably null	Het
Bco2	A	G	9: 50,461,929 (GRCm39)	V25A	possibly damaging	Het
Bltp1	T	C	3: 36,924,205 (GRCm39)	V10A	possibly damaging	Het
Carf	T	A	1: 60,165,195 (GRCm39)		probably null	Het
Ccdc38	A	T	10: 93,401,741 (GRCm39)	I134L	probably benign	Het
Cgnl1	A	G	9: 71,633,097 (GRCm39)	S85P	probably benign	Het
Ctsl	A	G	13: 64,515,693 (GRCm39)	V126A	probably damaging	Het
Cwc27	A	C	13: 104,938,693 (GRCm39)	S206A	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,590 (GRCm39)	I1004T	probably damaging	Het
Dgki	A	G	6: 37,027,138 (GRCm39)	V401A	probably damaging	Het
Dpp8	C	T	9: 64,970,775 (GRCm39)	H545Y	possibly damaging	Het
Dpy19l1	A	T	9: 24,386,680 (GRCm39)	C205S	probably damaging	Het
Enpp2	C	T	15: 54,709,225 (GRCm39)	E797K	probably benign	Het
Ephb2	C	T	4: 136,498,320 (GRCm39)	R253H	probably damaging	Het
Esrra	T	C	19: 6,897,665 (GRCm39)	T31A	probably benign	Het
Ewsr1	C	A	11: 5,028,574 (GRCm39)		probably benign	Het
Flt4	G	T	11: 49,522,808 (GRCm39)	R475L	probably benign	Het
Gm13547	A	G	2: 29,653,921 (GRCm39)	E138G	possibly damaging	Het
Gm572	A	T	4: 148,751,276 (GRCm39)	R216S	possibly damaging	Het
H2ac8	A	G	13: 23,755,119 (GRCm39)	V55A	probably damaging	Het
Hapln2	T	A	3: 87,931,404 (GRCm39)	Y37F	probably benign	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,302 (GRCm39)		probably benign	Het
Hhla1	C	T	15: 65,805,176 (GRCm39)	A369T	probably benign	Het
Hmg20a	T	A	9: 56,374,685 (GRCm39)	F14I	possibly damaging	Het
Iqca1l	A	T	5: 24,760,426 (GRCm39)		probably null	Het
Itga2	A	T	13: 114,985,956 (GRCm39)	S940T	possibly damaging	Het
Kcnt2	A	G	1: 140,359,116 (GRCm39)	N377S	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lhx6	A	G	2: 35,981,049 (GRCm39)	S298P	probably benign	Het
Lrp2	C	T	2: 69,332,954 (GRCm39)	G1521D	probably damaging	Het
Mogat2	A	G	7: 98,881,766 (GRCm39)	W57R	probably damaging	Het
Myo1a	A	G	10: 127,548,493 (GRCm39)	D380G	probably damaging	Het
Nufip2	T	A	11: 77,582,432 (GRCm39)	D115E	probably damaging	Het
Ogn	A	T	13: 49,762,809 (GRCm39)	K50N	probably benign	Het
Or5ac20	T	C	16: 59,104,366 (GRCm39)	R165G	probably damaging	Het
Or8c10	A	T	9: 38,278,844 (GRCm39)	M1L	probably benign	Het
Pde8b	G	A	13: 95,182,951 (GRCm39)	T269I	probably damaging	Het
Ppargc1b	A	T	18: 61,443,677 (GRCm39)	D495E	probably damaging	Het
Prdm16	C	A	4: 154,613,117 (GRCm39)	K103N	possibly damaging	Het
Proc	C	T	18: 32,260,463 (GRCm39)	G221S	probably damaging	Het
Pxk	A	G	14: 8,164,091 (GRCm38)	N561S	probably damaging	Het
Rapgef5	A	G	12: 117,610,721 (GRCm39)	N323S	probably benign	Het
Slc6a13	T	G	6: 121,309,333 (GRCm39)	D281E	possibly damaging	Het
Slc8a1	T	C	17: 81,955,676 (GRCm39)	Y454C	probably damaging	Het
Sntg2	C	A	12: 30,338,295 (GRCm39)	L115F	probably damaging	Het
Spata13	A	G	14: 60,993,857 (GRCm39)	D1103G	probably damaging	Het
Supv3l1	G	A	10: 62,268,225 (GRCm39)	A540V	probably benign	Het
Tet1	A	T	10: 62,648,689 (GRCm39)	D1914E	probably damaging	Het
Tmem30a	A	G	9: 79,678,570 (GRCm39)	*329Q	probably null	Het
Tspan5	A	T	3: 138,604,102 (GRCm39)	L162F	probably damaging	Het
Ttn	T	A	2: 76,549,396 (GRCm39)	K31760N	probably damaging	Het
Tyr	A	T	7: 87,087,200 (GRCm39)	D437E	probably benign	Het
Ubr4	T	A	4: 139,144,238 (GRCm39)	L1427*	probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vcan	A	G	13: 89,841,075 (GRCm39)	S1490P	probably damaging	Het
Vcl	T	A	14: 21,059,018 (GRCm39)	C545S	probably damaging	Het
Vmn2r4	C	T	3: 64,314,309 (GRCm39)	G224D	probably damaging	Het
Vmn2r97	T	A	17: 19,168,110 (GRCm39)	V788E	probably damaging	Het
Vrtn	G	A	12: 84,695,282 (GRCm39)	V11M	probably damaging	Het
Zbtb21	A	T	16: 97,753,227 (GRCm39)	V380D	probably damaging	Het
Zcchc14	G	A	8: 122,331,002 (GRCm39)		probably benign	Het

Other mutations in Ms4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Ms4a3	APN	19	11,607,019 (GRCm39)	utr 3 prime	probably benign
IGL01370:Ms4a3	APN	19	11,610,245 (GRCm39)	missense	probably benign	0.01
IGL01901:Ms4a3	APN	19	11,616,630 (GRCm39)	missense	possibly damaging	0.86
IGL01950:Ms4a3	APN	19	11,610,199 (GRCm39)	missense	probably damaging	1.00
R0609:Ms4a3	UTSW	19	11,608,725 (GRCm39)	missense	possibly damaging	0.79
R1938:Ms4a3	UTSW	19	11,613,204 (GRCm39)	missense	possibly damaging	0.94
R2367:Ms4a3	UTSW	19	11,607,108 (GRCm39)	missense	probably benign	0.22
R3890:Ms4a3	UTSW	19	11,610,271 (GRCm39)	missense	probably benign	0.10
R4727:Ms4a3	UTSW	19	11,608,742 (GRCm39)	missense	probably damaging	0.97
R6103:Ms4a3	UTSW	19	11,616,582 (GRCm39)	missense	possibly damaging	0.86
R6908:Ms4a3	UTSW	19	11,615,659 (GRCm39)	missense	probably damaging	1.00
R8134:Ms4a3	UTSW	19	11,615,613 (GRCm39)	missense	probably benign	0.10
R9437:Ms4a3	UTSW	19	11,607,065 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CATACATCTGATGAGGAACCCAGGGA -3'
(R):5'- ACTGTGCAACGTCACAAACTTCTACT -3'

Sequencing Primer
(F):5'- CCCAGGGAAATGCAGACATC -3'
(R):5'- ggaattacagcatcaatggcac -3'

Posted On

2014-04-13