Incidental Mutation 'R5981:Ms4a1'
ID 481431
Institutional Source Beutler Lab
Gene Symbol Ms4a1
Ensembl Gene ENSMUSG00000024673
Gene Name membrane-spanning 4-domains, subfamily A, member 1
Synonyms Ly-44, Cd20
MMRRC Submission 043250-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5981 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 11227043-11243513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11229180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 242 (E242G)
Ref Sequence ENSEMBL: ENSMUSP00000126422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169159]
AlphaFold P19437
Predicted Effect probably benign
Transcript: ENSMUST00000169159
AA Change: E242G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000126422
Gene: ENSMUSG00000024673
AA Change: E242G

DomainStartEndE-ValueType
Pfam:CD20 44 210 3.8e-48 PFAM
low complexity region 253 271 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187379
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
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. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus affects B cell physiology but does not impair B cell development or overall immune function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,659,299 (GRCm39) Y251H probably benign Het
Ccr3 G A 9: 123,828,820 (GRCm39) G52S probably damaging Het
Cep192 T C 18: 67,993,661 (GRCm39) L1992P probably damaging Het
Cnot1 T C 8: 96,515,293 (GRCm39) K23E probably damaging Het
Col12a1 G A 9: 79,585,788 (GRCm39) R1224C probably damaging Het
Cox7c A T 13: 86,194,780 (GRCm39) S5R possibly damaging Het
Eps8 A G 6: 137,459,208 (GRCm39) V765A probably damaging Het
Frg1 T C 8: 41,863,307 (GRCm39) D104G possibly damaging Het
Gm11032 T C 11: 4,571,697 (GRCm39) V34A probably benign Het
Hid1 G A 11: 115,241,774 (GRCm39) T612I possibly damaging Het
Hivep1 C T 13: 42,313,664 (GRCm39) T1968I probably damaging Het
Mctp1 A G 13: 76,905,229 (GRCm39) D444G probably damaging Het
Mx1 T C 16: 97,255,405 (GRCm39) D216G probably damaging Het
Panx3 A G 9: 37,580,177 (GRCm39) S59P possibly damaging Het
Pcdhgb1 A G 18: 37,814,907 (GRCm39) D466G probably damaging Het
Plg T C 17: 12,597,605 (GRCm39) probably null Het
Prpf4b T C 13: 35,070,693 (GRCm39) S427P probably benign Het
Rbm44 T C 1: 91,080,411 (GRCm39) S166P possibly damaging Het
Recql A G 6: 142,318,604 (GRCm39) L213P probably damaging Het
Rwdd1 A G 10: 33,885,081 (GRCm39) Y60H probably damaging Het
Sult1b1 A C 5: 87,682,816 (GRCm39) I43R probably damaging Het
Trak2 A T 1: 58,947,849 (GRCm39) V597E probably benign Het
Usp17lb T A 7: 104,490,394 (GRCm39) I177F probably damaging Het
Zfp410 A G 12: 84,378,414 (GRCm39) E193G probably benign Het
Other mutations in Ms4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Ms4a1 APN 19 11,231,923 (GRCm39) missense probably benign 0.17
bilious UTSW 19 11,230,542 (GRCm39) critical splice donor site probably null
Chartreuse UTSW 19 11,235,612 (GRCm39) missense probably damaging 1.00
Paris_green UTSW 19 11,233,933 (GRCm39) splice site probably null
IGL03097:Ms4a1 UTSW 19 11,230,556 (GRCm39) missense probably benign 0.00
R0437:Ms4a1 UTSW 19 11,233,933 (GRCm39) splice site probably null
R0518:Ms4a1 UTSW 19 11,236,043 (GRCm39) splice site probably null
R0521:Ms4a1 UTSW 19 11,236,043 (GRCm39) splice site probably null
R0704:Ms4a1 UTSW 19 11,230,596 (GRCm39) missense probably benign 0.01
R1532:Ms4a1 UTSW 19 11,230,557 (GRCm39) missense probably benign
R4877:Ms4a1 UTSW 19 11,231,857 (GRCm39) missense probably damaging 0.99
R5089:Ms4a1 UTSW 19 11,236,176 (GRCm39) missense probably benign 0.01
R5903:Ms4a1 UTSW 19 11,235,612 (GRCm39) missense probably damaging 1.00
R6366:Ms4a1 UTSW 19 11,236,062 (GRCm39) missense probably damaging 1.00
R6805:Ms4a1 UTSW 19 11,230,537 (GRCm39) splice site probably null
R6864:Ms4a1 UTSW 19 11,230,542 (GRCm39) critical splice donor site probably null
R8985:Ms4a1 UTSW 19 11,232,055 (GRCm39) missense probably benign 0.00
R9052:Ms4a1 UTSW 19 11,233,954 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATGTGTCTTGGAAGCTCTCTAAAC -3'
(R):5'- CATCCGCATTGCCAATCCTG -3'

Sequencing Primer
(F):5'- CTTGGAAGCTCTCTAAACAATAATGC -3'
(R):5'- GCATTGCCAATCCTGGTATCTACAG -3'
Posted On 2017-06-26