Incidental Mutation 'IGL02304:Ms4a6d'
ID 287529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a6d
Ensembl Gene ENSMUSG00000024679
Gene Name membrane-spanning 4-domains, subfamily A, member 6D
Synonyms Ms4a11
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL02304
Quality Score
Status
Chromosome 19
Chromosomal Location 11563970-11582150 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 11580505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025582]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025582
SMART Domains Protein: ENSMUSP00000025582
Gene: ENSMUSG00000024679

DomainStartEndE-ValueType
Pfam:CD20 47 207 2.8e-42 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157973
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik G T 18: 69,083,122 (GRCm39) H31N unknown Het
Adamts8 A G 9: 30,867,952 (GRCm39) N592S possibly damaging Het
Atp1a2 C A 1: 172,116,920 (GRCm39) E232D probably benign Het
Cacnb3 A T 15: 98,540,263 (GRCm39) D323V probably damaging Het
Cdh9 A T 15: 16,848,687 (GRCm39) T456S probably benign Het
Cep162 A T 9: 87,109,200 (GRCm39) probably benign Het
Clvs2 T C 10: 33,404,443 (GRCm39) M258V probably benign Het
Col6a5 T C 9: 105,805,613 (GRCm39) T1098A unknown Het
Foxs1 T C 2: 152,774,270 (GRCm39) D261G probably benign Het
Gas2l2 T C 11: 83,315,064 (GRCm39) probably benign Het
Gins4 A T 8: 23,722,625 (GRCm39) M98K probably benign Het
Gm9637 A T 14: 19,402,545 (GRCm38) noncoding transcript Het
Herc1 A G 9: 66,383,696 (GRCm39) D3720G probably benign Het
Kcnh5 C T 12: 75,023,471 (GRCm39) M532I probably benign Het
Kcnk18 T C 19: 59,223,295 (GRCm39) Y147H probably damaging Het
Kif21a A T 15: 90,849,738 (GRCm39) F55Y probably damaging Het
Krt15 T A 11: 100,024,503 (GRCm39) I278F possibly damaging Het
L3mbtl4 T A 17: 68,894,180 (GRCm39) Y395* probably null Het
Mcm3ap T A 10: 76,320,572 (GRCm39) N843K possibly damaging Het
Mpdz T C 4: 81,228,394 (GRCm39) K1337E possibly damaging Het
Mpdz G A 4: 81,215,796 (GRCm39) probably benign Het
Myo7a G T 7: 97,726,943 (GRCm39) R922S possibly damaging Het
Nek1 G T 8: 61,465,201 (GRCm39) G97C probably damaging Het
Obscn A G 11: 58,967,448 (GRCm39) Y2963H probably damaging Het
Or4k44 T C 2: 111,367,746 (GRCm39) N296S probably benign Het
Or4k6 T C 14: 50,476,217 (GRCm39) N42D probably damaging Het
Or5w15 C T 2: 87,568,330 (GRCm39) V113M probably benign Het
Prmt3 G A 7: 49,476,485 (GRCm39) V365I probably benign Het
Prrc2c T C 1: 162,511,705 (GRCm39) T958A probably benign Het
Ptprb T C 10: 116,167,164 (GRCm39) Y947H probably damaging Het
Pus10 C T 11: 23,662,275 (GRCm39) S315L probably damaging Het
Rmi1 C A 13: 58,557,290 (GRCm39) S513* probably null Het
Sec14l3 C T 11: 4,024,768 (GRCm39) P239L probably damaging Het
Slc44a3 T C 3: 121,320,723 (GRCm39) T93A possibly damaging Het
Srsf3-ps C T 11: 98,516,364 (GRCm39) R3H probably benign Het
Stat1 G A 1: 52,171,703 (GRCm39) A125T probably benign Het
Tigd2 C T 6: 59,188,683 (GRCm39) Q517* probably null Het
Trav13d-3 C T 14: 53,270,837 (GRCm39) Q100* probably null Het
Trim67 G A 8: 125,552,691 (GRCm39) D598N probably damaging Het
Trio A G 15: 27,735,522 (GRCm39) L2856P probably damaging Het
Other mutations in Ms4a6d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Ms4a6d APN 19 11,579,249 (GRCm39) missense probably damaging 0.99
IGL01638:Ms4a6d APN 19 11,564,532 (GRCm39) missense probably damaging 0.99
IGL01799:Ms4a6d APN 19 11,567,499 (GRCm39) missense probably damaging 1.00
R1873:Ms4a6d UTSW 19 11,579,223 (GRCm39) missense probably damaging 1.00
R1993:Ms4a6d UTSW 19 11,567,523 (GRCm39) missense probably damaging 1.00
R2443:Ms4a6d UTSW 19 11,567,557 (GRCm39) missense possibly damaging 0.93
R2900:Ms4a6d UTSW 19 11,567,508 (GRCm39) missense probably damaging 1.00
R5288:Ms4a6d UTSW 19 11,564,500 (GRCm39) missense possibly damaging 0.78
R6251:Ms4a6d UTSW 19 11,564,504 (GRCm39) missense probably damaging 0.99
R7339:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7340:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7341:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7342:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7347:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7348:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7350:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7368:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7393:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7394:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R8020:Ms4a6d UTSW 19 11,567,472 (GRCm39) missense probably benign 0.00
R8181:Ms4a6d UTSW 19 11,580,653 (GRCm39) missense probably damaging 0.99
R8785:Ms4a6d UTSW 19 11,570,400 (GRCm39) critical splice donor site probably benign
R9262:Ms4a6d UTSW 19 11,579,216 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16