Incidental Mutation 'IGL00495:Ms4a6d'
ID3240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a6d
Ensembl Gene ENSMUSG00000024679
Gene Namemembrane-spanning 4-domains, subfamily A, member 6D
SynonymsMs4a11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL00495
Quality Score
Status
Chromosome19
Chromosomal Location11586604-11604849 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 11601885 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 76 (T76I)
Ref Sequence ENSEMBL: ENSMUSP00000025582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025582]
Predicted Effect probably damaging
Transcript: ENSMUST00000025582
AA Change: T76I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025582
Gene: ENSMUSG00000024679
AA Change: T76I

DomainStartEndE-ValueType
Pfam:CD20 47 207 2.8e-42 PFAM
low complexity region 222 235 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,415,843 T679A probably benign Het
Bhlhe40 T A 6: 108,661,178 M33K probably benign Het
Cacna2d1 T C 5: 16,370,609 S1059P probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Chrm2 A T 6: 36,523,420 I71F possibly damaging Het
Cntnap5c A G 17: 58,162,277 Q618R probably benign Het
Cog5 T A 12: 31,837,309 N476K probably benign Het
Dhx36 G A 3: 62,470,558 probably benign Het
Dnajb8 G T 6: 88,222,854 R124L possibly damaging Het
Dnajc16 A T 4: 141,763,563 probably null Het
Dzip1 T C 14: 118,883,394 D717G probably benign Het
Eps15 G T 4: 109,309,149 V80L probably damaging Het
Fmn1 G A 2: 113,444,467 probably benign Het
Gm12185 A G 11: 48,907,861 S602P probably damaging Het
Gm28539 T G 16: 18,954,780 probably benign Het
Grm3 T C 5: 9,512,290 N520S probably benign Het
Hivep2 A G 10: 14,142,244 N1825S probably damaging Het
Igfbp2 A G 1: 72,849,128 H143R probably benign Het
Igsf8 T G 1: 172,317,544 V146G possibly damaging Het
Kif13b T G 14: 64,714,113 S68A probably benign Het
Lrrc15 T A 16: 30,274,030 I164F possibly damaging Het
Mrrf G A 2: 36,141,631 R53H possibly damaging Het
Pkd1l1 T C 11: 8,868,493 R1332G probably benign Het
Plekha1 A G 7: 130,877,839 Y29C probably damaging Het
Pnliprp1 A T 19: 58,734,730 H221L probably damaging Het
Pomt2 T C 12: 87,124,856 D380G probably damaging Het
Ppm1f C A 16: 16,910,971 T79N possibly damaging Het
Ppp4r3b A C 11: 29,211,782 T719P possibly damaging Het
Socs4 G A 14: 47,290,252 V215I probably benign Het
Spg11 A G 2: 122,094,456 probably null Het
Stk31 T A 6: 49,437,443 C459S probably benign Het
Ttn A G 2: 76,709,202 V26153A possibly damaging Het
Twf1 C T 15: 94,580,936 probably benign Het
Vrk3 A T 7: 44,769,647 K383M probably damaging Het
Wdr83 A T 8: 85,079,814 N118K probably damaging Het
Other mutations in Ms4a6d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Ms4a6d APN 19 11587168 missense probably damaging 0.99
IGL01799:Ms4a6d APN 19 11590135 missense probably damaging 1.00
IGL02304:Ms4a6d APN 19 11603141 splice site probably benign
R1873:Ms4a6d UTSW 19 11601859 missense probably damaging 1.00
R1993:Ms4a6d UTSW 19 11590159 missense probably damaging 1.00
R2443:Ms4a6d UTSW 19 11590193 missense possibly damaging 0.93
R2900:Ms4a6d UTSW 19 11590144 missense probably damaging 1.00
R5288:Ms4a6d UTSW 19 11587136 missense possibly damaging 0.78
R6251:Ms4a6d UTSW 19 11587140 missense probably damaging 0.99
R7339:Ms4a6d UTSW 19 11590073 nonsense probably null
R7340:Ms4a6d UTSW 19 11590073 nonsense probably null
R7341:Ms4a6d UTSW 19 11590073 nonsense probably null
R7342:Ms4a6d UTSW 19 11590073 nonsense probably null
R7347:Ms4a6d UTSW 19 11590073 nonsense probably null
R7348:Ms4a6d UTSW 19 11590073 nonsense probably null
R7350:Ms4a6d UTSW 19 11590073 nonsense probably null
R7368:Ms4a6d UTSW 19 11590073 nonsense probably null
R7393:Ms4a6d UTSW 19 11590073 nonsense probably null
R7394:Ms4a6d UTSW 19 11590073 nonsense probably null
R8020:Ms4a6d UTSW 19 11590108 missense probably benign 0.00
R8181:Ms4a6d UTSW 19 11603289 missense probably damaging 0.99
Posted On2012-04-20