Incidental Mutation 'R6432:Ms4a12'
ID 518614
Institutional Source Beutler Lab
Gene Symbol Ms4a12
Ensembl Gene ENSMUSG00000101031
Gene Name membrane-spanning 4-domains, subfamily A, member 12
Synonyms LOC381213
MMRRC Submission 044570-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6432 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 11191446-11209812 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 11192376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 264 (*264Q)
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 null
Transcript: ENSMUST00000186228
AA Change: *264Q
SMART Domains Protein: ENSMUSP00000140981
Gene: ENSMUSG00000101031
AA Change: *264Q

DomainStartEndE-ValueType
Pfam:CD20 85 220 9.6e-24 PFAM
low complexity region 230 241 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 T A 3: 105,814,991 (GRCm39) L101* probably null Het
Atf7ip2 T C 16: 10,022,534 (GRCm39) I71T probably damaging Het
Atp2c1 A G 9: 105,322,512 (GRCm39) C206R probably damaging Het
Cacna1d A G 14: 29,845,411 (GRCm39) L606P probably damaging Het
Cass4 T C 2: 172,269,639 (GRCm39) F574L probably damaging Het
Cdcp3 G A 7: 130,846,601 (GRCm39) probably null Het
Col17a1 C A 19: 47,668,847 (GRCm39) E126* probably null Het
Cxadr A C 16: 78,122,147 (GRCm39) D49A probably damaging Het
Dact1 T C 12: 71,365,327 (GRCm39) S703P probably damaging Het
Dchs2 T A 3: 83,178,425 (GRCm39) H1159Q possibly damaging Het
Dnmt3a T A 12: 3,952,399 (GRCm39) F697I probably damaging Het
Dnpep T A 1: 75,292,022 (GRCm39) K199N probably benign Het
Ear2 G T 14: 44,340,660 (GRCm39) C106F probably damaging Het
Gnl2 A T 4: 124,946,353 (GRCm39) I525F possibly damaging Het
Hsph1 C A 5: 149,542,441 (GRCm39) K692N probably damaging Het
Itga6 T A 2: 71,664,116 (GRCm39) C489S possibly damaging Het
Kdm2b C T 5: 123,018,254 (GRCm39) C1007Y probably damaging Het
Ly6m T C 15: 74,751,813 (GRCm39) T74A probably benign Het
Mast4 T C 13: 103,042,185 (GRCm39) S22G possibly damaging Het
Myh8 G T 11: 67,189,405 (GRCm39) A1194S probably benign Het
Ncapd3 T A 9: 26,955,805 (GRCm39) N131K probably damaging Het
Or10g6 T C 9: 39,933,824 (GRCm39) I45T probably damaging Het
Or5w13 A T 2: 87,523,872 (GRCm39) M118K probably damaging Het
Rbm14 G T 19: 4,853,191 (GRCm39) probably benign Het
Rnf130 T A 11: 49,986,617 (GRCm39) C320* probably null Het
Rnf5 A G 17: 34,821,101 (GRCm39) V77A possibly damaging Het
Sh3pxd2a G T 19: 47,258,366 (GRCm39) P418T probably damaging Het
Shank3 G T 15: 89,387,616 (GRCm39) V262F possibly damaging Het
Six5 T A 7: 18,830,696 (GRCm39) V441E probably damaging Het
Tbc1d9b T A 11: 50,037,155 (GRCm39) I268N probably benign Het
Terb1 G A 8: 105,212,078 (GRCm39) T301I possibly damaging Het
Tnxb A C 17: 34,936,891 (GRCm39) D2820A probably damaging Het
Tram2 C T 1: 21,074,457 (GRCm39) E242K possibly damaging Het
Trps1 T C 15: 50,694,793 (GRCm39) K210E probably damaging Het
Tulp2 T A 7: 45,168,012 (GRCm39) D141E probably benign Het
Umodl1 C T 17: 31,205,121 (GRCm39) T572I probably benign Het
Upf2 C A 2: 5,984,588 (GRCm39) A501E unknown Het
Vmn2r102 A G 17: 19,901,483 (GRCm39) T537A possibly damaging Het
Wdr11 T A 7: 129,208,242 (GRCm39) D332E possibly damaging Het
Wdr38 A G 2: 38,890,723 (GRCm39) N199S probably damaging Het
Zfp672 T A 11: 58,207,758 (GRCm39) I188F possibly damaging Het
Other mutations in Ms4a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4412:Ms4a12 UTSW 19 11,207,807 (GRCm39) missense probably benign 0.00
R6114:Ms4a12 UTSW 19 11,192,654 (GRCm39) missense probably benign 0.36
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'- ATTGCAGTAATGGTAAGCAGTTGG -3'
(R):5'- TGACTACTGAGCTCTCTGCC -3'

Sequencing Primer
(F):5'- GGCAGGGAGGCACTGAC -3'
(R):5'- CCTCCACTCTGCTGGGAC -3'
Posted On 2018-05-24