Incidental Mutation 'IGL00975:Ms4a8a'
ID 29545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a8a
Ensembl Gene ENSMUSG00000024730
Gene Name membrane-spanning 4-domains, subfamily A, member 8A
Synonyms 2010004L09Rik, CD20L5, Ms4a8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL00975
Quality Score
Status
Chromosome 19
Chromosomal Location 11044835-11058466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11048151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 193 (L193P)
Ref Sequence ENSEMBL: ENSMUSP00000025636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025636]
AlphaFold Q99N10
Predicted Effect probably damaging
Transcript: ENSMUST00000025636
AA Change: L193P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025636
Gene: ENSMUSG00000024730
AA Change: L193P

DomainStartEndE-ValueType
Pfam:CD20 109 247 3.7e-22 PFAM
low complexity region 266 284 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187859
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 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 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn10 A T 15: 85,220,666 (GRCm39) M1L probably benign Het
Atxn7l3 A G 11: 102,185,807 (GRCm39) S3P probably benign Het
Cep112 A G 11: 108,325,012 (GRCm39) D70G probably damaging Het
Col20a1 G A 2: 180,634,271 (GRCm39) A79T probably damaging Het
Cycs T A 6: 50,542,347 (GRCm39) D63V probably benign Het
Dis3 A G 14: 99,316,670 (GRCm39) V855A probably damaging Het
Dnah6 T A 6: 73,150,373 (GRCm39) I797F possibly damaging Het
Dpagt1 T C 9: 44,243,949 (GRCm39) probably null Het
Dst T C 1: 34,227,393 (GRCm39) I1840T possibly damaging Het
Epb41l3 C T 17: 69,514,856 (GRCm39) probably benign Het
Fam20c C T 5: 138,794,912 (GRCm39) H514Y probably benign Het
Fgd6 A T 10: 93,969,938 (GRCm39) M1196L probably damaging Het
Fmo3 T C 1: 162,791,599 (GRCm39) D226G probably benign Het
Fsd1l T C 4: 53,682,187 (GRCm39) L263P probably damaging Het
Gaa C A 11: 119,165,509 (GRCm39) T333K possibly damaging Het
Gm10530 T C 1: 159,512,444 (GRCm39) probably benign Het
Gm5458 A G 14: 19,649,735 (GRCm39) L163P Het
Inpp5j T C 11: 3,452,176 (GRCm39) N358S probably damaging Het
Neb T C 2: 52,102,740 (GRCm39) K4511R probably benign Het
Odad1 A T 7: 45,592,080 (GRCm39) K320I probably damaging Het
Or5an10 A G 19: 12,276,149 (GRCm39) S116P probably damaging Het
Pcca A G 14: 123,114,312 (GRCm39) D82G probably damaging Het
Pou2f3 T C 9: 43,048,679 (GRCm39) T266A probably benign Het
Ppp1r26 T A 2: 28,343,730 (GRCm39) L1120Q probably damaging Het
Pudp T G 18: 50,701,349 (GRCm39) K128T probably damaging Het
Rcn1 T C 2: 105,225,174 (GRCm39) T94A possibly damaging Het
Six5 T C 7: 18,831,603 (GRCm39) L698P probably damaging Het
Slc13a4 T A 6: 35,251,910 (GRCm39) M461L probably benign Het
Slc30a9 T C 5: 67,507,169 (GRCm39) V487A probably damaging Het
Tbx21 T C 11: 96,990,908 (GRCm39) I257V possibly damaging Het
Tg A G 15: 66,553,731 (GRCm39) D382G probably benign Het
Trim34b C A 7: 103,978,859 (GRCm39) C35* probably null Het
Usp47 A G 7: 111,692,577 (GRCm39) D1013G probably damaging Het
Other mutations in Ms4a8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Ms4a8a APN 19 11,056,808 (GRCm39) missense probably benign 0.34
H8786:Ms4a8a UTSW 19 11,053,725 (GRCm39) missense possibly damaging 0.61
R1084:Ms4a8a UTSW 19 11,053,726 (GRCm39) missense probably damaging 1.00
R1586:Ms4a8a UTSW 19 11,053,696 (GRCm39) missense possibly damaging 0.89
R1699:Ms4a8a UTSW 19 11,053,761 (GRCm39) missense probably damaging 1.00
R5227:Ms4a8a UTSW 19 11,045,780 (GRCm39) missense probably damaging 0.99
R5510:Ms4a8a UTSW 19 11,056,828 (GRCm39) missense probably benign
R6116:Ms4a8a UTSW 19 11,058,436 (GRCm39) missense unknown
R6819:Ms4a8a UTSW 19 11,053,743 (GRCm39) missense probably damaging 1.00
R7470:Ms4a8a UTSW 19 11,053,714 (GRCm39) missense possibly damaging 0.92
R7876:Ms4a8a UTSW 19 11,056,848 (GRCm39) missense probably damaging 1.00
R9633:Ms4a8a UTSW 19 11,056,956 (GRCm39) missense probably benign 0.36
RF022:Ms4a8a UTSW 19 11,053,689 (GRCm39) missense possibly damaging 0.89
Z1176:Ms4a8a UTSW 19 11,048,124 (GRCm39) missense possibly damaging 0.75
Posted On 2013-04-17