Incidental Mutation 'R3890:Ms4a3'
ID 310372
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 040802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3890 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 11606863-11618215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11610271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 97 (N97S)
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: N97S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108608
Gene: ENSMUSG00000024681
AA Change: N97S

DomainStartEndE-ValueType
Pfam:CD20 27 172 2.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186023
AA Change: N97S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140508
Gene: ENSMUSG00000024681
AA Change: N97S

DomainStartEndE-ValueType
Pfam:CD20 27 172 9.5e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190642
Meta Mutation Damage Score 0.0640 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (60/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,604,700 (GRCm39) Y201C probably damaging Het
Adam10 A G 9: 70,676,136 (GRCm39) T624A probably benign Het
Atf2 T C 2: 73,693,557 (GRCm39) S2G probably damaging Het
Atf7ip T C 6: 136,564,043 (GRCm39) V762A possibly damaging Het
Cacna1e C T 1: 154,359,299 (GRCm39) R265Q probably damaging Het
Cckbr A C 7: 105,075,376 (GRCm39) T49P probably benign Het
Clip2 T C 5: 134,551,847 (GRCm39) K92E probably damaging Het
Clrn3 T C 7: 135,120,194 (GRCm39) T131A possibly damaging Het
Cntrl T G 2: 35,060,492 (GRCm39) C1342G probably benign Het
Def8 T C 8: 124,185,083 (GRCm39) probably benign Het
Dennd4a T C 9: 64,779,310 (GRCm39) S598P probably damaging Het
Deup1 A G 9: 15,511,009 (GRCm39) Y257H probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Ect2 T C 3: 27,192,689 (GRCm39) D387G probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fmo4 A T 1: 162,621,624 (GRCm39) I529N probably benign Het
Frs3 A G 17: 48,014,360 (GRCm39) D351G probably damaging Het
Gcat T A 15: 78,921,376 (GRCm39) V378D probably damaging Het
Hmcn1 A T 1: 150,510,946 (GRCm39) D3592E probably damaging Het
Hspa4l A T 3: 40,736,026 (GRCm39) Q570L possibly damaging Het
Ifi213 A G 1: 173,394,822 (GRCm39) I571T probably benign Het
Lsamp T C 16: 39,805,054 (GRCm39) V11A probably benign Het
Mettl1 T C 10: 126,880,998 (GRCm39) probably null Het
Mettl15 A G 2: 109,021,924 (GRCm39) I127T probably benign Het
Mipep T C 14: 61,046,444 (GRCm39) L322P probably damaging Het
Mob1b T A 5: 88,901,061 (GRCm39) I156K probably damaging Het
Mobp G A 9: 119,997,022 (GRCm39) C51Y probably damaging Het
Myrip A G 9: 120,251,324 (GRCm39) E210G probably damaging Het
Nos1ap T C 1: 170,177,025 (GRCm39) Y126C probably damaging Het
Nuak2 G T 1: 132,259,223 (GRCm39) A342S possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or10ah1-ps1 G T 5: 143,123,152 (GRCm39) S290R probably benign Het
Or2aj5 A G 16: 19,425,205 (GRCm39) I71T probably damaging Het
Or7e165 T G 9: 19,695,011 (GRCm39) I194S probably benign Het
Pdgfra A G 5: 75,328,588 (GRCm39) N240S probably null Het
Pdxdc1 T C 16: 13,654,312 (GRCm39) T759A probably benign Het
Pex2 C T 3: 5,626,008 (GRCm39) C267Y probably damaging Het
Pgghg T C 7: 140,525,616 (GRCm39) I473T probably damaging Het
Prdm15 T C 16: 97,600,771 (GRCm39) H829R probably damaging Het
Pum1 T C 4: 130,491,393 (GRCm39) L774P probably damaging Het
Rcbtb1 T A 14: 59,465,804 (GRCm39) H382Q possibly damaging Het
Rprd2 A T 3: 95,672,536 (GRCm39) F956I probably damaging Het
Samd1 G A 8: 84,724,361 (GRCm39) probably benign Het
Slc4a11 A T 2: 130,527,705 (GRCm39) S592T probably damaging Het
Slc5a4b A G 10: 75,898,094 (GRCm39) V540A probably benign Het
Slfn8 G A 11: 82,895,270 (GRCm39) T512I possibly damaging Het
Slx4 A T 16: 3,797,773 (GRCm39) I1537N probably damaging Het
Sorl1 G A 9: 41,915,401 (GRCm39) T1276M probably damaging Het
Specc1 C T 11: 62,042,739 (GRCm39) T872M probably benign Het
Speer4f1 T C 5: 17,684,500 (GRCm39) I176T probably damaging Het
Spint1 T C 2: 119,079,283 (GRCm39) I455T probably benign Het
Srp54a A G 12: 55,135,978 (GRCm39) probably null Het
Stoml3 T A 3: 53,414,875 (GRCm39) N222K probably damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tanc2 A T 11: 105,689,504 (GRCm39) D222V probably damaging Het
Tasor2 T C 13: 3,646,785 (GRCm39) E80G probably damaging Het
Thsd7a G A 6: 12,418,336 (GRCm39) S631L probably benign Het
Vmn2r73 G A 7: 85,507,144 (GRCm39) H723Y probably benign Het
Wdfy4 T C 14: 32,769,237 (GRCm39) E2076G 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
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
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
Predicted Primers PCR Primer
(F):5'- CATAGTATACAACCTACTGTTTTCCTG -3'
(R):5'- CTGTTTTACTGCTAGACTGTACAC -3'

Sequencing Primer
(F):5'- GAAAGTCTCCTATACCCTCCCCATG -3'
(R):5'- CACTCTTGGTGCAATGGGAGAATC -3'
Posted On 2015-04-17