Incidental Mutation 'R4727:Ms4a3'
ID 358573
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 041602-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4727 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 11606863-11618215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11608742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 170 (M170T)
Ref Sequence ENSEMBL: ENSMUSP00000140508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112984] [ENSMUST00000186023]
AlphaFold Q920C4
Predicted Effect probably damaging
Transcript: ENSMUST00000112984
AA Change: M170T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: M170T

DomainStartEndE-ValueType
Pfam:CD20 27 172 2.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186023
AA Change: M170T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: M170T

DomainStartEndE-ValueType
Pfam:CD20 27 172 9.5e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190642
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,062,489 (GRCm39) N483S probably benign Het
Acoxl T G 2: 127,820,658 (GRCm39) L70R probably damaging Het
Ankrd44 A T 1: 54,706,576 (GRCm39) F627I probably benign Het
Ash2l A T 8: 26,308,623 (GRCm39) I552N probably damaging Het
B4galt1 A G 4: 40,807,812 (GRCm39) S330P probably damaging Het
Bnip3 T C 7: 138,500,435 (GRCm39) S52G probably damaging Het
Btd A G 14: 31,384,278 (GRCm39) Q88R probably benign Het
C4bp A G 1: 130,566,922 (GRCm39) V318A probably benign Het
Cacna1e G A 1: 154,312,214 (GRCm39) Q1530* probably null Het
Calm1 T C 12: 100,166,485 (GRCm39) F23S probably benign Het
Cep290 T G 10: 100,399,132 (GRCm39) I2218R probably benign Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Cyp2d9 T C 15: 82,338,602 (GRCm39) L1P probably null Het
Dgki C A 6: 37,276,748 (GRCm39) probably benign Het
Dhh A G 15: 98,796,023 (GRCm39) L44P probably damaging Het
Dnah12 A G 14: 26,594,274 (GRCm39) I3409V probably damaging Het
Dnah7b G A 1: 46,246,816 (GRCm39) R1664H probably damaging Het
Dnah8 T C 17: 31,070,721 (GRCm39) M4469T probably damaging Het
Ehhadh T C 16: 21,581,181 (GRCm39) I604V probably benign Het
Esr1 A G 10: 4,951,418 (GRCm39) I599V probably benign Het
Faf1 G A 4: 109,697,564 (GRCm39) D297N probably damaging Het
Gfra1 A T 19: 58,252,386 (GRCm39) N380K probably damaging Het
Ghitm A G 14: 36,855,700 (GRCm39) C8R probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Itsn2 A G 12: 4,757,660 (GRCm39) Y1424C probably damaging Het
Kcnj10 A G 1: 172,197,266 (GRCm39) D260G probably damaging Het
Klf16 T C 10: 80,405,020 (GRCm39) D164G probably damaging Het
Klhdc7b T A 15: 89,271,785 (GRCm39) L889Q probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Lrp11 A G 10: 7,466,348 (GRCm39) E153G probably benign Het
Lrrc43 A T 5: 123,632,366 (GRCm39) T170S probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Man1a A T 10: 53,783,668 (GRCm39) probably null Het
Mmp24 C T 2: 155,657,819 (GRCm39) P570S possibly damaging Het
Naip5 C A 13: 100,358,378 (GRCm39) A953S possibly damaging Het
Nfrkb T C 9: 31,314,919 (GRCm39) S580P probably damaging Het
Or51q1c T G 7: 103,653,097 (GRCm39) V205G probably benign Het
Or8b38 T C 9: 37,973,389 (GRCm39) Y258H probably damaging Het
Padi6 T G 4: 140,458,506 (GRCm39) D462A probably damaging Het
Pde6a A G 18: 61,364,561 (GRCm39) R206G probably benign Het
Plk4 A G 3: 40,759,589 (GRCm39) N162D probably benign Het
Ptpn13 T A 5: 103,717,721 (GRCm39) D1922E probably benign Het
Rangap1 G A 15: 81,613,956 (GRCm39) probably benign Het
Rapgef3 A G 15: 97,658,481 (GRCm39) L175P probably damaging Het
Rps6kb1 G C 11: 86,435,484 (GRCm39) probably null Het
Satb1 T C 17: 52,111,375 (GRCm39) Y161C probably damaging Het
Sel1l3 C A 5: 53,301,525 (GRCm39) probably null Het
Slc17a7 C T 7: 44,822,358 (GRCm39) S398L possibly damaging Het
Slc22a4 T A 11: 53,918,477 (GRCm39) E109V possibly damaging Het
Slc26a7 C T 4: 14,590,477 (GRCm39) A105T probably damaging Het
Slc47a1 T C 11: 61,254,277 (GRCm39) N145S possibly damaging Het
Tank A G 2: 61,483,876 (GRCm39) T441A probably benign Het
Tefm T C 11: 80,031,279 (GRCm39) probably benign Het
Ttbk2 T C 2: 120,575,851 (GRCm39) Y1042C probably benign Het
Wdfy3 T C 5: 102,077,894 (GRCm39) Q892R probably damaging Het
Wdr33 T A 18: 32,021,500 (GRCm39) H683Q unknown Het
Zfp36l2 T A 17: 84,495,089 (GRCm39) I12F probably benign Het
Zfyve26 A T 12: 79,291,170 (GRCm39) M2145K probably benign Het
Other mutations in Ms4a3
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1546:Ms4a3 UTSW 19 11,610,271 (GRCm39) missense probably benign 0.10
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
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'- ACTTCATCTCACACACTGATCTAAG -3'
(R):5'- CTCCCCTTGACTAGTTCACAGAG -3'

Sequencing Primer
(F):5'- TCTAAGAAATAATCCCTAGAACCCC -3'
(R):5'- CACAGAGGTCAATCTTCAGTCTG -3'
Posted On 2015-11-11