Incidental Mutation 'R9437:Ms4a3'
ID 713346
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9437 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 11606863-11618215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11607065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 200 (D200G)
Ref Sequence ENSEMBL: ENSMUSP00000108608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112984] [ENSMUST00000186023]
AlphaFold Q920C4
Predicted Effect possibly damaging
Transcript: ENSMUST00000112984
AA Change: D200G

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: D200G

DomainStartEndE-ValueType
Pfam:CD20 27 172 2.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186023
AA Change: D200G

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: D200G

DomainStartEndE-ValueType
Pfam:CD20 27 172 9.5e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T C 17: 32,553,608 (GRCm39) S371G probably benign Het
Bdp1 A G 13: 100,162,158 (GRCm39) S2255P probably benign Het
Ccdc93 C T 1: 121,369,584 (GRCm39) Q109* probably null Het
Copa G A 1: 171,931,712 (GRCm39) R321H possibly damaging Het
Cyp2b23 A T 7: 26,372,199 (GRCm39) D415E possibly damaging Het
Dcun1d2 T C 8: 13,331,004 (GRCm39) D42G probably benign Het
Ebf4 T A 2: 130,202,005 (GRCm39) S325T probably benign Het
Ergic2 T C 6: 148,097,562 (GRCm39) E137G probably benign Het
Etl4 T C 2: 20,813,872 (GRCm39) S1304P probably benign Het
Fam24b A T 7: 130,927,893 (GRCm39) C99S probably benign Het
Fat4 A G 3: 38,945,417 (GRCm39) T1437A probably benign Het
Fgd5 A G 6: 91,964,627 (GRCm39) T287A probably benign Het
Fscb G T 12: 64,519,708 (GRCm39) A586E unknown Het
Gm2244 A T 14: 19,599,038 (GRCm39) I86N probably damaging Het
Hnrnph3 T A 10: 62,854,627 (GRCm39) R55* probably null Het
Kcnk5 A C 14: 20,192,468 (GRCm39) I231S probably damaging Het
Krt10 A G 11: 99,276,390 (GRCm39) M87T probably benign Het
Ly6c2 C G 15: 74,983,535 (GRCm39) probably benign Het
Map4 C A 9: 109,864,155 (GRCm39) T460K possibly damaging Het
Mok A G 12: 110,774,659 (GRCm39) C388R probably benign Het
Ncapd2 A G 6: 125,153,655 (GRCm39) Y687H probably damaging Het
Nrp1 A G 8: 129,187,108 (GRCm39) T385A probably benign Het
Or2w25 T C 11: 59,504,195 (GRCm39) M135T possibly damaging Het
Or56a41 A T 7: 104,739,963 (GRCm39) Y294* probably null Het
Osbp2 A G 11: 3,664,581 (GRCm39) S131P probably damaging Het
Pcdhga3 G A 18: 37,808,144 (GRCm39) R199H probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pigx G T 16: 31,918,310 (GRCm39) D26E probably benign Het
Pkn3 T C 2: 29,973,267 (GRCm39) I363T possibly damaging Het
Psg16 T A 7: 16,827,715 (GRCm39) Y133N probably damaging Het
Pygl A G 12: 70,246,925 (GRCm39) I407T probably damaging Het
Rc3h2 G A 2: 37,272,841 (GRCm39) A745V possibly damaging Het
Srgap1 T C 10: 121,636,777 (GRCm39) E703G probably benign Het
Susd4 T C 1: 182,681,697 (GRCm39) probably null Het
Tbpl1 T C 10: 22,587,838 (GRCm39) N37S probably damaging Het
Tex264 T C 9: 106,559,096 (GRCm39) I77V possibly 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
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
Predicted Primers PCR Primer
(F):5'- TCATCCAGATCCAGACCGTG -3'
(R):5'- TCTCTGGTCCACATGCATG -3'

Sequencing Primer
(F):5'- CAGACCGTGCTCGTGGATTTAC -3'
(R):5'- GGTCCACATGCATGTTATCAC -3'
Posted On 2022-05-16