Incidental Mutation 'R2367:Ms4a3'
ID 246393
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 040348-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2367 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 11629496-11640851 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11629744 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 186 (P186S)
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: P186S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: P186S

Pfam:CD20 27 172 2.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186023
AA Change: P186S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: P186S

Pfam:CD20 27 172 9.5e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190642
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipoq T C 16: 23,155,319 V32A probably benign Het
Ceacam3 T C 7: 17,151,888 probably null Het
Cep250 G A 2: 155,992,632 R2159K probably damaging Het
Cfap46 C A 7: 139,653,498 V296F probably damaging Het
Ctdspl2 T C 2: 121,987,018 V182A probably benign Het
Cyp2c69 T C 19: 39,877,594 N185S probably benign Het
Daxx C T 17: 33,911,847 R279W probably benign Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Galnt13 A T 2: 55,112,944 M552L probably benign Het
Gstt2 C T 10: 75,832,690 G108S probably benign Het
Heatr1 T A 13: 12,433,724 L422Q probably damaging Het
Kntc1 C T 5: 123,781,192 L845F probably damaging Het
Krtap26-1 C A 16: 88,647,325 R136L probably benign Het
Mrgprb5 C T 7: 48,168,599 W129* probably null Het
Myo15 T A 11: 60,517,238 M3184K probably damaging Het
Olfr1044 T C 2: 86,171,637 Y60C probably damaging Het
Olig2 G A 16: 91,226,566 R56Q possibly damaging Het
Pgap3 C T 11: 98,391,159 probably null Het
Phgdh C G 3: 98,314,296 G440A probably benign Het
Scn1a T C 2: 66,327,679 Q450R probably damaging Het
Sema4d CGGGG CGGGGGGG 13: 51,703,140 probably benign Het
Sik1 C T 17: 31,846,297 V776I possibly damaging Het
Slc25a39 T A 11: 102,403,651 T316S possibly damaging Het
Slc38a10 C T 11: 120,110,261 E578K probably benign Het
Slc44a5 T A 3: 154,247,809 I276K possibly damaging Het
Smarcc2 A G 10: 128,482,167 T610A possibly damaging Het
Spag9 G A 11: 94,116,757 S1090N probably damaging Het
Tpr T C 1: 150,433,728 V277A probably damaging Het
Traf3ip1 T G 1: 91,507,520 S314A possibly damaging Het
Tril T A 6: 53,819,166 D357V probably damaging Het
Tube1 T C 10: 39,144,919 L267P probably damaging Het
Vmn1r11 A G 6: 57,137,431 I27V probably benign Het
Other mutations in Ms4a3
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1938:Ms4a3 UTSW 19 11635840 missense possibly damaging 0.94
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

Sequencing Primer
Posted On 2014-10-30