Mutagenetix > Incidental Mutation

Incidental Mutation 'R1938:Ms4a3'

213769

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

039956-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1938 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11629496-11640851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11635840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 85 (A85T)

Ref Sequence

ENSEMBL: ENSMUSP00000140508 (fasta)

Gene Model

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

AlphaFold

Q920C4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112984
AA Change: A85T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: A85T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186023
AA Change: A85T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: A85T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190642

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,152,008	*453W	probably null	Het
Abcc8	T	C	7: 46,175,371	K134R	possibly damaging	Het
Adamts17	T	C	7: 67,125,072	S980P	probably damaging	Het
Adap2	T	A	11: 80,170,682	I221K	probably damaging	Het
Adgrv1	C	T	13: 81,391,757	R5681Q	probably damaging	Het
Adipor1	T	A	1: 134,423,103	L30Q	probably benign	Het
Agpat5	A	G	8: 18,878,165	T249A	probably benign	Het
Agxt2	G	T	15: 10,391,935	G329V	probably damaging	Het
Ankrd28	A	G	14: 31,705,276	V801A	possibly damaging	Het
Ap1g2	A	G	14: 55,099,772	V702A	possibly damaging	Het
Arid3a	A	G	10: 79,950,706	Q429R	probably damaging	Het
Arsb	T	A	13: 93,862,150	L322Q	probably damaging	Het
Ash1l	A	G	3: 88,984,422	T1203A	probably damaging	Het
Atad2	T	A	15: 58,096,705	N1308Y	possibly damaging	Het
Atp10b	A	T	11: 43,230,418	R969S	probably benign	Het
Bmp10	T	C	6: 87,433,720	I165T	possibly damaging	Het
Ccne1	A	G	7: 38,106,277		probably null	Het
Cenpe	A	G	3: 135,247,479	N1565D	probably damaging	Het
Chd1	A	T	17: 15,762,486	E1404D	probably benign	Het
Chd7	G	A	4: 8,847,200	E1648K	probably damaging	Het
Chodl	T	C	16: 78,941,426	I94T	possibly damaging	Het
Chsy3	T	C	18: 59,409,512	F574S	probably damaging	Het
Clpb	A	T	7: 101,763,656	I317F	probably damaging	Het
Cnga3	T	A	1: 37,261,873	V558D	possibly damaging	Het
Col9a1	C	T	1: 24,222,473	P573S	probably damaging	Het
Crat	A	T	2: 30,413,061	D71E	probably benign	Het
Cspg4	A	G	9: 56,887,101	T707A	probably benign	Het
Ctsr	T	A	13: 61,162,445	R132S	probably benign	Het
Ctu2	T	C	8: 122,479,285	L255P	probably damaging	Het
Cyp2c69	T	C	19: 39,849,366	Y424C	probably damaging	Het
Ddx27	A	T	2: 167,034,109	K726N	probably damaging	Het
Dennd4a	A	G	9: 64,842,490	Q121R	probably damaging	Het
Dis3	A	G	14: 99,097,590	F192S	probably benign	Het
Ect2l	C	T	10: 18,144,635	S487N	probably benign	Het
Eml1	T	A	12: 108,521,396	F524L	possibly damaging	Het
Espl1	T	C	15: 102,305,042	I601T	probably benign	Het
Fbxo40	C	A	16: 36,969,351	V466L	probably damaging	Het
Frmpd1	C	T	4: 45,283,711	T844M	probably damaging	Het
Frs2	T	A	10: 117,081,106		probably benign	Het
Fuom	G	T	7: 140,099,608	T133K	probably benign	Het
Garnl3	T	A	2: 33,005,200	H619L	probably damaging	Het
Gm4861	G	T	3: 137,552,115	N36K	unknown	Het
Gm6588	C	A	5: 112,449,801	C71*	probably null	Het
Gps2	G	T	11: 69,915,369	M153I	probably benign	Het
Gtf2ird1	A	G	5: 134,415,245	V52A	probably damaging	Het
Gtpbp8	A	T	16: 44,745,422	D137E	probably benign	Het
Haus4	A	G	14: 54,544,276	C213R	probably damaging	Het
Hdc	T	A	2: 126,606,397	H142L	possibly damaging	Het
Hephl1	T	C	9: 15,053,987	D1069G	possibly damaging	Het
Herc6	T	A	6: 57,625,941	V535D	probably damaging	Het
Hipk3	A	T	2: 104,430,188	H1082Q	possibly damaging	Het
Hps5	A	T	7: 46,773,267	V513D	probably damaging	Het
Ifna13	T	A	4: 88,644,175	I71F	probably damaging	Het
Il1rl2	T	C	1: 40,363,324	I426T	probably damaging	Het
Irf5	A	T	6: 29,536,739	D483V	probably benign	Het
Jakmip3	A	G	7: 139,020,138	R256G	probably damaging	Het
Jazf1	T	C	6: 52,777,615	I159V	probably damaging	Het
Kmo	A	G	1: 175,651,588	D230G	possibly damaging	Het
Lrrc74b	A	G	16: 17,553,194	V213A	probably benign	Het
Ly6g5b	T	C	17: 35,114,728	D36G	possibly damaging	Het
Macc1	T	G	12: 119,445,731	L78R	probably damaging	Het
Mettl4	A	T	17: 94,747,857	D51E	possibly damaging	Het
Mfap1a	G	A	2: 121,502,354	L199F	possibly damaging	Het
Mmp17	G	T	5: 129,602,126	R363L	probably damaging	Het
Mrc1	G	A	2: 14,319,241	A1130T	possibly damaging	Het
Mrpl15	C	T	1: 4,777,582	A165T	probably damaging	Het
Mrpl45	G	A	11: 97,315,944		probably null	Het
Mttp	A	T	3: 138,125,121	D77E	probably benign	Het
Muc6	A	G	7: 141,637,098	L2489P	probably damaging	Het
Myl3	G	A	9: 110,766,734	E100K	probably damaging	Het
Nbea	T	A	3: 56,085,322	N288Y	probably damaging	Het
Ncoa7	A	G	10: 30,698,170	V181A	probably benign	Het
Oat	C	T	7: 132,558,205	V429M	probably benign	Het
Olfr1152	G	A	2: 87,868,461	V157I	probably benign	Het
Olfr1163	A	T	2: 88,070,956	L142Q	probably damaging	Het
Olfr1269	T	G	2: 90,119,083	I172L	probably damaging	Het
Olfr285	T	A	15: 98,313,380	M57L	probably damaging	Het
Olfr319	A	T	11: 58,702,623	*307C	probably null	Het
Olfr508	T	C	7: 108,630,838	I282T	probably benign	Het
Olfr524	A	G	7: 140,202,231	F180L	probably benign	Het
Olfr810	T	A	10: 129,790,890	K233M	probably damaging	Het
Olfr922	A	G	9: 38,815,850	T116A	probably benign	Het
Oraov1	A	G	7: 144,916,468	S45G	probably damaging	Het
Otof	A	G	5: 30,376,369	S1464P	probably benign	Het
Otogl	A	T	10: 107,777,575	Y2010N	probably damaging	Het
Pgap3	C	T	11: 98,400,214		probably null	Het
Pgbd5	T	A	8: 124,374,249	K332*	probably null	Het
Pgs1	C	T	11: 118,005,727	P410L	probably damaging	Het
Pkhd1l1	G	A	15: 44,500,038	S618N	probably benign	Het
Plcb1	A	T	2: 135,386,302	D1073V	probably damaging	Het
Pola2	T	A	19: 5,951,180	T309S	probably benign	Het
Polg2	T	A	11: 106,778,961	H161L	probably damaging	Het
Postn	T	A	3: 54,377,612		probably null	Het
Ppt1	G	T	4: 122,845,991	C128F	probably damaging	Het
Ptpn12	G	A	5: 20,993,263	P678S	probably damaging	Het
Rcan3	A	T	4: 135,412,501		probably null	Het
Rgs22	T	C	15: 36,101,804	N216S	probably benign	Het
Rgs7bp	T	A	13: 104,951,582	D228V	probably damaging	Het
Rhobtb2	A	T	14: 69,796,613	S388T	probably benign	Het
Rnps1	C	T	17: 24,420,390	R138C	unknown	Het
Rpl38	T	C	11: 114,671,776	V36A	probably benign	Het
Rps7	G	T	12: 28,631,753	H126Q	possibly damaging	Het
Sec24b	G	T	3: 129,991,361	Q999K	possibly damaging	Het
Slc19a3	A	G	1: 83,019,368	V373A	possibly damaging	Het
Spats2l	T	A	1: 57,885,782	V113E	probably benign	Het
Ss18l1	A	T	2: 180,063,345	T377S	unknown	Het
Surf1	A	G	2: 26,915,970	F38L	probably benign	Het
Ticrr	G	A	7: 79,675,394	R556H	probably damaging	Het
Tmem184b	A	G	15: 79,365,814	S254P	probably damaging	Het
Tnfrsf4	G	T	4: 156,016,235	R237L	possibly damaging	Het
Tnk2	C	A	16: 32,663,742		probably benign	Het
Tnks	A	T	8: 34,838,530	D1191E	probably damaging	Het
Tnr	C	A	1: 159,895,037	Y1017*	probably null	Het
Tomm34	A	G	2: 164,061,006	I128T	probably benign	Het
Trim2	G	A	3: 84,177,792	S540F	possibly damaging	Het
Trio	A	T	15: 27,732,891	I2968N	probably damaging	Het
Ttc24	T	C	3: 88,074,874	E17G	probably benign	Het
Ttc41	A	G	10: 86,776,214	H1117R	probably benign	Het
Ttn	A	T	2: 76,735,408	V28200D	probably damaging	Het
Ttn	A	T	2: 76,762,386	S20801T	possibly damaging	Het
Ube2cbp	C	T	9: 86,448,787	C114Y	probably damaging	Het
Ugt2b37	A	C	5: 87,240,857	L499R	probably damaging	Het
Vmn1r81	T	C	7: 12,260,662	I6M	possibly damaging	Het
Vmn2r97	A	T	17: 18,929,331	Y327F	probably benign	Het
Vps13b	T	C	15: 35,709,507	S1867P	probably damaging	Het
Wdr11	T	C	7: 129,606,607	V362A	probably benign	Het
Zan	T	A	5: 137,388,939	M4951L	unknown	Het
Zcwpw1	T	A	5: 137,811,622	L337Q	probably damaging	Het
Zfp2	A	T	11: 50,899,982	D411E	possibly damaging	Het
Zfp628	C	T	7: 4,920,768	T663I	probably benign	Het
Zfpm1	T	A	8: 122,334,924		probably null	Het
Zfyve19	T	C	2: 119,211,212	S87P	probably benign	Het
Zswim9	T	A	7: 13,260,214	K672*	probably null	Het

Other mutations in Ms4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Ms4a3	APN	19	11629655	utr 3 prime	probably benign
IGL01370:Ms4a3	APN	19	11632881	missense	probably benign	0.01
IGL01901:Ms4a3	APN	19	11639266	missense	possibly damaging	0.86
IGL01950:Ms4a3	APN	19	11632835	missense	probably damaging	1.00
R0609:Ms4a3	UTSW	19	11631361	missense	possibly damaging	0.79
R1546:Ms4a3	UTSW	19	11632907	missense	probably benign	0.10
R2367:Ms4a3	UTSW	19	11629744	missense	probably benign	0.22
R3890:Ms4a3	UTSW	19	11632907	missense	probably benign	0.10
R4727:Ms4a3	UTSW	19	11631378	missense	probably damaging	0.97
R6103:Ms4a3	UTSW	19	11639218	missense	possibly damaging	0.86
R6908:Ms4a3	UTSW	19	11638295	missense	probably damaging	1.00
R8134:Ms4a3	UTSW	19	11638249	missense	probably benign	0.10
R9437:Ms4a3	UTSW	19	11629701	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AAGACAGTGGTGAAAGACCTTTC -3'
(R):5'- TCATGGGAAGGTAGTGCATG -3'

Sequencing Primer
(F):5'- AGACTTGGTTCCTCAGCT -3'
(R):5'- TTTGAAATATGGGCAACAATGTGAG -3'

Posted On

2014-07-14