Incidental Mutation 'IGL00949:Ms4a8a'
ID 29523
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 # IGL00949
Quality Score
Status
Chromosome 19
Chromosomal Location 11044835-11058466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 11056808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 91 (L91F)
Ref Sequence ENSEMBL: ENSMUSP00000025636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025636]
AlphaFold Q99N10
Predicted Effect probably benign
Transcript: ENSMUST00000025636
AA Change: L91F

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025636
Gene: ENSMUSG00000024730
AA Change: L91F

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 A G X: 141,126,325 (GRCm39) C303R probably damaging Het
Als2 C T 1: 59,254,731 (GRCm39) G209S probably damaging Het
Ankrd11 T C 8: 123,635,467 (GRCm39) T56A possibly damaging Het
Arnt T A 3: 95,394,579 (GRCm39) I381N probably damaging Het
Atp13a1 T C 8: 70,252,653 (GRCm39) probably benign Het
Cd180 A T 13: 102,830,268 (GRCm39) T21S possibly damaging Het
Cdc27 T C 11: 104,420,229 (GRCm39) Y138C probably damaging Het
Dhx16 A G 17: 36,198,826 (GRCm39) T753A probably benign Het
Dnah1 A G 14: 31,029,047 (GRCm39) M561T probably benign Het
Dsc3 C A 18: 20,118,688 (GRCm39) G259C probably null Het
Enox2 A T X: 48,129,484 (GRCm39) D346E probably benign Het
Exoc3l T C 8: 106,017,130 (GRCm39) E619G probably benign Het
Exosc9 T C 3: 36,617,415 (GRCm39) probably benign Het
Gmpr2 C T 14: 55,914,207 (GRCm39) probably benign Het
Golga1 T C 2: 38,931,267 (GRCm39) E289G probably damaging Het
H3c1 G A 13: 23,946,014 (GRCm39) T108I probably damaging Het
Jmy A G 13: 93,590,510 (GRCm39) V531A probably damaging Het
Lamp2 T C X: 37,524,350 (GRCm39) N156S probably benign Het
Lrrn1 C A 6: 107,546,261 (GRCm39) N686K probably benign Het
Lyst T C 13: 13,810,070 (GRCm39) V580A possibly damaging Het
Naip2 A G 13: 100,298,099 (GRCm39) F646L probably damaging Het
Npat T C 9: 53,474,662 (GRCm39) V818A probably benign Het
Or2w4 A T 13: 21,795,521 (GRCm39) I206N probably damaging Het
Padi3 C A 4: 140,516,254 (GRCm39) R542L possibly damaging Het
Pid1 A G 1: 84,016,227 (GRCm39) V46A probably damaging Het
Pld5 A T 1: 175,803,039 (GRCm39) C409S probably damaging Het
Plet1 A G 9: 50,410,523 (GRCm39) T105A possibly damaging Het
Polrmt T C 10: 79,573,431 (GRCm39) probably null Het
Pp2d1 T C 17: 53,822,667 (GRCm39) N133S probably benign Het
Prpf40b G T 15: 99,204,419 (GRCm39) V228L probably benign Het
Ptgfrn A T 3: 100,980,161 (GRCm39) M393K probably benign Het
Slc9a1 C T 4: 133,143,762 (GRCm39) T416I probably benign Het
Slc9c1 T C 16: 45,413,721 (GRCm39) S950P probably benign Het
Slitrk1 A T 14: 109,149,241 (GRCm39) V490D probably damaging Het
Th T C 7: 142,450,763 (GRCm39) Y131C probably benign Het
Tlr6 A G 5: 65,110,855 (GRCm39) L684P probably damaging Het
Tpm3 A G 3: 89,997,165 (GRCm39) E234G probably damaging Het
Tti1 A G 2: 157,824,319 (GRCm39) Y1045H probably benign Het
Txnl4b T A 8: 110,295,707 (GRCm39) V37D probably benign Het
Ufl1 A T 4: 25,275,822 (GRCm39) F194I probably damaging Het
Usp13 G A 3: 32,940,726 (GRCm39) E412K possibly damaging Het
Usp46 A T 5: 74,163,903 (GRCm39) L251Q possibly damaging Het
Other mutations in Ms4a8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Ms4a8a APN 19 11,048,151 (GRCm39) missense probably damaging 1.00
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