Incidental Mutation 'IGL01950:Ms4a3'
ID 181312
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 # IGL01950
Quality Score
Chromosome 19
Chromosomal Location 11606863-11618215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 11610199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 121 (A121E)
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: A121E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: A121E

Pfam:CD20 27 172 2.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186023
AA Change: A121E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: A121E

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm G A 7: 110,228,107 (GRCm39) R96H probably damaging Het
Aebp1 C T 11: 5,819,108 (GRCm39) T198I probably benign Het
Arid3b A T 9: 57,702,257 (GRCm39) I500N probably damaging Het
Clec1b T A 6: 129,377,043 (GRCm39) W29R probably damaging Het
Cyp2e1 T C 7: 140,344,874 (GRCm39) probably null Het
Dnah5 A G 15: 28,290,435 (GRCm39) E1275G probably null Het
Dnajc13 A T 9: 104,067,631 (GRCm39) I1171N possibly damaging Het
Dpf3 T G 12: 83,371,723 (GRCm39) T171P probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Hk1 T C 10: 62,151,173 (GRCm39) D57G probably damaging Het
Kcnc2 T G 10: 112,297,980 (GRCm39) probably benign Het
Kcnj11 A T 7: 45,748,573 (GRCm39) F250Y probably damaging Het
Kirrel3 C T 9: 34,939,625 (GRCm39) probably benign Het
Lmbrd1 T C 1: 24,750,683 (GRCm39) probably null Het
Mga T C 2: 119,772,135 (GRCm39) V1665A possibly damaging Het
Nfix T C 8: 85,440,415 (GRCm39) *392W probably null Het
Noxred1 C T 12: 87,268,190 (GRCm39) V314M probably damaging Het
Or2t47 A T 11: 58,442,560 (GRCm39) C168* probably null Het
Or51aa5 T A 7: 103,167,472 (GRCm39) T40S probably benign Het
Phospho1 A G 11: 95,719,548 (GRCm39) probably benign Het
Prr5 G A 15: 84,650,550 (GRCm39) A237T probably benign Het
Rev3l C T 10: 39,697,153 (GRCm39) T550M probably damaging Het
Sbf2 A G 7: 109,965,032 (GRCm39) F955L probably benign Het
Slc38a9 C T 13: 112,831,787 (GRCm39) T179M probably damaging Het
Trpv5 T G 6: 41,652,912 (GRCm39) D87A probably benign Het
Tubgcp5 A G 7: 55,455,836 (GRCm39) Q288R possibly damaging Het
Uqcc1 A G 2: 155,700,058 (GRCm39) Y172H probably damaging Het
Vmn2r23 T C 6: 123,718,845 (GRCm39) F733L possibly damaging Het
Vmn2r71 A G 7: 85,264,827 (GRCm39) Y53C probably damaging Het
Vwa5a T A 9: 38,638,266 (GRCm39) M263K probably damaging Het
Zfp503 C A 14: 22,036,488 (GRCm39) A143S probably benign Het
Zfp958 T C 8: 4,678,917 (GRCm39) L314P probably damaging 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
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 2014-05-07