Incidental Mutation 'R8134:Ms4a3'
ID 632199
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 # R8134 (G1)
Quality Score 187.009
Status Validated
Chromosome 19
Chromosomal Location 11629496-11640851 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to C at 11638249 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 54 (H54Q)
Ref Sequence ENSEMBL: ENSMUSP00000108608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112984] [ENSMUST00000186023]
AlphaFold Q920C4
Predicted Effect probably benign
Transcript: ENSMUST00000112984
AA Change: H54Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: H54Q

DomainStartEndE-ValueType
Pfam:CD20 27 172 2.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186023
AA Change: H54Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: H54Q

DomainStartEndE-ValueType
Pfam:CD20 27 172 9.5e-36 PFAM
Meta Mutation Damage Score 0.0935 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.5%
  • 20x: 93.5%
Validation Efficiency 99% (71/72)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 G A 8: 79,699,353 P265L probably benign Het
Adam20 A G 8: 40,796,064 T404A probably benign Het
Anp32a G T 9: 62,377,581 R237L unknown Het
Ascc3 A G 10: 50,767,458 D1835G probably benign Het
Atg9b A G 5: 24,385,222 probably null Het
Bard1 A T 1: 71,067,138 N443K probably damaging Het
Btnl1 A G 17: 34,385,673 D476G possibly damaging Het
C2cd3 A T 7: 100,418,504 I487F Het
Cadm4 A G 7: 24,503,605 E384G possibly damaging Het
Camsap3 A G 8: 3,598,075 K128E probably benign Het
Casz1 C T 4: 148,943,035 P1005S probably damaging Het
Cd38 C A 5: 43,901,448 L135M probably damaging Het
Cdk20 A G 13: 64,437,920 E244G probably benign Het
Cfap54 A T 10: 92,878,516 V2667D unknown Het
Col11a1 A G 3: 114,218,786 K1792E unknown Het
Cpne9 A T 6: 113,295,042 D377V probably benign Het
Csmd1 A T 8: 15,932,550 C2706S probably damaging Het
Ctnnbl1 T C 2: 157,809,471 V222A probably benign Het
Frmpd2 T C 14: 33,505,495 S277P probably benign Het
Gm15922 A G 7: 3,735,839 S590P probably damaging Het
Herc2 C T 7: 56,085,136 T158I probably benign Het
Hoxa4 G T 6: 52,190,557 H215N possibly damaging Het
Hpd G T 5: 123,174,380 Q309K probably benign Het
Il20ra A G 10: 19,750,704 T159A probably damaging Het
Ints10 T A 8: 68,802,986 Y209* probably null Het
Ints2 A G 11: 86,212,660 I1190T probably damaging Het
Jhy A G 9: 40,960,892 V107A probably null Het
Kdm4d C T 9: 14,463,236 R442H probably damaging Het
Kif1bp T C 10: 62,577,977 Y134C probably benign Het
Klb A T 5: 65,383,615 H1017L probably benign Het
Kndc1 T A 7: 139,901,369 probably null Het
Krtap4-1 GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC 11: 99,627,834 probably benign Het
Lrrn3 T C 12: 41,453,048 I423M probably damaging Het
Magi2 T G 5: 20,391,367 F274L probably damaging Het
Magi2 T A 5: 20,391,394 D283E probably benign Het
Map3k19 A C 1: 127,823,755 S620A probably damaging Het
Meis2 C T 2: 115,866,888 M388I probably benign Het
Nfe2l1 A T 11: 96,819,759 M548K possibly damaging Het
Ninl C T 2: 150,950,314 C763Y probably benign Het
Numa1 T C 7: 102,001,627 F1522L probably benign Het
Olfr1344 T C 7: 6,438,923 probably benign Het
Olfr539 T A 7: 140,667,767 I153N possibly damaging Het
Pcdhgc3 G A 18: 37,806,863 V106I probably benign Het
Phf3 A G 1: 30,824,471 V152A unknown Het
Plcg2 A T 8: 117,557,318 D118V probably damaging Het
Pnpla1 A G 17: 28,878,469 D203G probably damaging Het
Ppip5k2 A T 1: 97,745,163 M474K probably benign Het
Ppp1r12b T C 1: 134,886,542 E341G possibly damaging Het
Rictor C T 15: 6,772,154 S441L probably benign Het
Rrs1 C T 1: 9,545,420 probably benign Het
Scaf11 T C 15: 96,420,711 N324S probably damaging Het
Spaca1 T A 4: 34,042,157 probably null Het
Sun3 G T 11: 9,029,346 D118E probably benign Het
Svop C T 5: 114,042,931 V215I probably benign Het
Tbc1d15 A T 10: 115,209,569 C497S probably damaging Het
Tdrd6 A T 17: 43,626,173 I1328N probably damaging Het
Tuba8 T A 6: 121,221,422 D116E probably benign Het
Ube2z A G 11: 96,058,374 I213T possibly damaging Het
Ubqln4 G A 3: 88,555,490 probably null Het
Vps13a A G 19: 16,654,354 I2639T possibly damaging Het
Zfp217 G A 2: 170,119,651 S252F possibly damaging Het
Zfp94 A T 7: 24,303,741 V92E 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
R2367:Ms4a3 UTSW 19 11629744 missense probably benign 0.22
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
R9437:Ms4a3 UTSW 19 11629701 missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- CAGAAAGAAAGAGACTTTTGCCTAC -3'
(R):5'- GGCTTTGTCGTATTTCTCAGAAC -3'

Sequencing Primer
(F):5'- AAGAGACTTTTGCCTACTTTTGTTG -3'
(R):5'- GCCATCCAGATCCTGAAT -3'
Posted On 2020-06-30