Incidental Mutation 'IGL01370:Ms4a3'
ID 76120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a3
Ensembl Gene ENSMUSG00000024681
Gene Name membrane-spanning 4-domains, subfamily A, member 3
Synonyms haematopoietic cell-specific transmembrane-4, HTm4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01370
Quality Score
Status
Chromosome 19
Chromosomal Location 11606863-11618215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11610245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 106 (T106S)
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: T106S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: T106S

DomainStartEndE-ValueType
Pfam:CD20 27 172 2.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186023
AA Change: T106S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: T106S

DomainStartEndE-ValueType
Pfam:CD20 27 172 9.5e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190642
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A T 12: 88,423,503 (GRCm39) probably benign Het
Add1 C T 5: 34,787,859 (GRCm39) T210I probably damaging Het
Ajm1 T C 2: 25,468,969 (GRCm39) E314G possibly damaging Het
Alpk2 A T 18: 65,483,662 (GRCm39) D115E possibly damaging Het
Ankrd36 C T 11: 5,534,019 (GRCm39) T290I probably benign Het
Bltp1 T A 3: 37,001,904 (GRCm39) I1283N probably benign Het
Castor2 T C 5: 134,167,111 (GRCm39) V323A probably benign Het
Ccnt2 T C 1: 127,731,250 (GRCm39) F709S possibly damaging Het
Erc1 T C 6: 119,801,426 (GRCm39) E197G probably damaging Het
Ftsj3 G T 11: 106,143,145 (GRCm39) R390S possibly damaging Het
Gabrb3 G A 7: 57,466,226 (GRCm39) A347T probably benign Het
Gde1 A G 7: 118,288,383 (GRCm39) probably benign Het
Jhy A T 9: 40,828,438 (GRCm39) N489K probably benign Het
Kiss1r A G 10: 79,754,658 (GRCm39) T51A probably benign Het
Lama5 T C 2: 179,839,193 (GRCm39) S772G possibly damaging Het
Lamb2 G T 9: 108,364,932 (GRCm39) probably null Het
Loxl3 A G 6: 83,026,468 (GRCm39) T475A probably damaging Het
Lpl A T 8: 69,340,220 (GRCm39) S72C possibly damaging Het
Lrrc74a A T 12: 86,801,204 (GRCm39) I352F probably damaging Het
Mcoln2 T C 3: 145,887,585 (GRCm39) I334T possibly damaging Het
Mettl8 T G 2: 70,812,383 (GRCm39) D49A probably damaging Het
Obscn T A 11: 58,886,389 (GRCm39) probably null Het
Or14j2 T C 17: 37,885,412 (GRCm39) I301V probably null Het
Or1o11 C A 17: 37,756,605 (GRCm39) H64Q probably benign Het
Or1p1c G A 11: 74,160,325 (GRCm39) V37I probably benign Het
Or4n4 G T 14: 50,519,689 (GRCm39) T7K probably damaging Het
Or5b107 A T 19: 13,142,663 (GRCm39) Y95F possibly damaging Het
Pcnx2 T C 8: 126,528,222 (GRCm39) K1333E probably damaging Het
Pias3 T C 3: 96,610,891 (GRCm39) F364L probably damaging Het
Piezo2 T A 18: 63,155,531 (GRCm39) I2438F probably damaging Het
Plcb3 A C 19: 6,940,192 (GRCm39) V465G probably damaging Het
Plekho2 G T 9: 65,465,912 (GRCm39) H159N probably damaging Het
Polr2e A G 10: 79,872,681 (GRCm39) probably benign Het
Rab6b G T 9: 103,041,094 (GRCm39) V163L probably benign Het
Rabep1 A G 11: 70,816,607 (GRCm39) M597V probably benign Het
Rbm15 A G 3: 107,238,326 (GRCm39) S691P probably damaging Het
Sec24b G A 3: 129,801,253 (GRCm39) probably benign Het
Slc6a18 A G 13: 73,815,150 (GRCm39) I386T probably damaging Het
Stxbp3 A C 3: 108,704,741 (GRCm39) Y497* probably null Het
Styk1 T C 6: 131,278,615 (GRCm39) K353R probably damaging Het
Tbc1d10b A T 7: 126,798,253 (GRCm39) H629Q probably damaging Het
Tbc1d5 T A 17: 51,273,755 (GRCm39) I119F probably benign Het
Tcp11l1 G T 2: 104,536,831 (GRCm39) D11E probably benign Het
Tfap2d A G 1: 19,175,009 (GRCm39) Y154C probably damaging Het
Tgm5 T C 2: 120,884,018 (GRCm39) N325S probably benign Het
Thbs2 T C 17: 14,910,327 (GRCm39) K91E possibly damaging Het
Vmn2r26 T A 6: 124,038,715 (GRCm39) F763L probably benign Het
Washc4 A G 10: 83,394,694 (GRCm39) E308G probably damaging Het
Xpot C A 10: 121,440,399 (GRCm39) A611S probably benign Het
Other mutations in Ms4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Ms4a3 APN 19 11,607,019 (GRCm39) utr 3 prime probably benign
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
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
Posted On 2013-10-07