Incidental Mutation 'R4412:Ms4a12'
ID 327992
Institutional Source Beutler Lab
Gene Symbol Ms4a12
Ensembl Gene ENSMUSG00000101031
Gene Name membrane-spanning 4-domains, subfamily A, member 12
Synonyms LOC381213
MMRRC Submission 041135-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4412 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 11191446-11209812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11207807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 33 (N33S)
Ref Sequence ENSEMBL: ENSMUSP00000140981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000186228]
AlphaFold A0A087WSB9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181137
Predicted Effect probably benign
Transcript: ENSMUST00000186228
AA Change: N33S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140981
Gene: ENSMUSG00000101031
AA Change: N33S

DomainStartEndE-ValueType
Pfam:CD20 85 220 9.6e-24 PFAM
low complexity region 230 241 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,449,302 (GRCm39) probably benign Het
Adprhl1 T C 8: 13,296,114 (GRCm39) K144E probably benign Het
Alpl A G 4: 137,485,939 (GRCm39) I2T possibly damaging Het
Chdh G T 14: 29,753,672 (GRCm39) G194C probably damaging Het
Cp A T 3: 20,020,517 (GRCm39) D170V probably damaging Het
Cpne9 A G 6: 113,266,962 (GRCm39) K132E possibly damaging Het
Cyp2b9 T G 7: 25,897,868 (GRCm39) L224R probably damaging Het
Dmxl1 A G 18: 49,981,828 (GRCm39) N153S probably benign Het
Dnah17 T C 11: 117,964,509 (GRCm39) Y2423C probably damaging Het
Dnajc14 G T 10: 128,642,074 (GRCm39) probably benign Het
Eipr1 A T 12: 28,909,372 (GRCm39) D213V probably damaging Het
Fat1 T C 8: 45,476,636 (GRCm39) V1894A probably damaging Het
Flrt2 G A 12: 95,747,047 (GRCm39) V462I probably benign Het
Gigyf2 A G 1: 87,364,582 (GRCm39) E954G probably damaging Het
Glis1 A G 4: 107,491,915 (GRCm39) H593R probably damaging Het
Gpr21 C G 2: 37,407,444 (GRCm39) probably benign Het
Gsdmc3 A G 15: 63,738,645 (GRCm39) M139T probably benign Het
Hydin C T 8: 111,142,368 (GRCm39) T749I probably damaging Het
Ilf3 C T 9: 21,310,856 (GRCm39) P620S possibly damaging Het
Khdc3 A G 9: 73,010,156 (GRCm39) T71A possibly damaging Het
Nisch A G 14: 30,908,615 (GRCm39) probably benign Het
Npr2 G A 4: 43,644,150 (GRCm39) C593Y probably damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or4c1 A G 2: 89,133,684 (GRCm39) I84T probably benign Het
Palld A G 8: 62,140,406 (GRCm39) Y534H probably damaging Het
Pcdhb10 TC T 18: 37,547,194 (GRCm39) probably null Het
Plekhg3 A C 12: 76,624,538 (GRCm39) T1127P probably damaging Het
Podnl1 A T 8: 84,857,294 (GRCm39) H301L probably benign Het
Ripk2 A G 4: 16,124,511 (GRCm39) V399A probably benign Het
Rpp30 T A 19: 36,077,655 (GRCm39) N172K possibly damaging Het
Sin3b C T 8: 73,466,407 (GRCm39) A291V probably benign Het
Slc12a6 A T 2: 112,166,233 (GRCm39) Q204L possibly damaging Het
Snx9 C T 17: 5,958,669 (GRCm39) T249M probably damaging Het
Sohlh2 C A 3: 55,104,423 (GRCm39) T264K probably damaging Het
Srrm2 A G 17: 24,029,442 (GRCm39) probably benign Het
Syne2 T A 12: 76,152,834 (GRCm39) H6674Q probably benign Het
Tyw1 T A 5: 130,364,073 (GRCm39) probably null Het
Vmn1r115 C T 7: 20,578,207 (GRCm39) R235K probably benign Het
Vmn2r50 A C 7: 9,784,235 (GRCm39) F80V probably damaging Het
Yme1l1 G A 2: 23,065,199 (GRCm39) R236H probably damaging Het
Other mutations in Ms4a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6114:Ms4a12 UTSW 19 11,192,654 (GRCm39) missense probably benign 0.36
R6432:Ms4a12 UTSW 19 11,192,376 (GRCm39) makesense probably null
R7453:Ms4a12 UTSW 19 11,203,026 (GRCm39) nonsense probably null
R7897:Ms4a12 UTSW 19 11,207,723 (GRCm39) missense possibly damaging 0.91
R8707:Ms4a12 UTSW 19 11,192,736 (GRCm39) missense possibly damaging 0.71
R9429:Ms4a12 UTSW 19 11,193,424 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTTACCCCAAGTGCTATTGCTG -3'
(R):5'- TTCTTGTCACTAGCCAGTATGTGC -3'

Sequencing Primer
(F):5'- CAAGTGCTATTGCTGCATCTTTAAC -3'
(R):5'- AGCCAGTATGTGCTCACTTG -3'
Posted On 2015-07-07