Incidental Mutation 'R6366:Ms4a1'
ID 512719
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 044516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 11227043-11243513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11236062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 42 (S42P)
Ref Sequence ENSEMBL: ENSMUSP00000126422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169159]
AlphaFold P19437
Predicted Effect probably damaging
Transcript: ENSMUST00000169159
AA Change: S42P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126422
Gene: ENSMUSG00000024673
AA Change: S42P

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
Meta Mutation Damage Score 0.2358 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.0%
  • 20x: 93.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,584,766 (GRCm39) F185L probably damaging Het
Ank3 A G 10: 69,835,188 (GRCm39) D131G probably damaging Het
Boc T C 16: 44,308,015 (GRCm39) K947E probably benign Het
Ccdc110 A G 8: 46,396,425 (GRCm39) E772G probably damaging Het
Ccdc7a A G 8: 129,582,473 (GRCm39) V1055A unknown Het
Chd1l A G 3: 97,501,476 (GRCm39) V190A probably benign Het
Chl1 C A 6: 103,706,197 (GRCm39) N396K possibly damaging Het
CN725425 T G 15: 91,131,124 (GRCm39) Y420D possibly damaging Het
Col6a1 A T 10: 76,546,804 (GRCm39) I806N unknown Het
Csmd2 A G 4: 128,377,245 (GRCm39) K2042E probably benign Het
Eif4a1 G T 11: 69,561,781 (GRCm39) D15E probably benign Het
Etfb T C 7: 43,102,365 (GRCm39) L119S probably damaging Het
Fbxo42 T A 4: 140,927,260 (GRCm39) S513R probably benign Het
Gys2 C A 6: 142,409,120 (GRCm39) C45F probably benign Het
Hspa1a G A 17: 35,189,500 (GRCm39) P468S probably damaging Het
Kdm2a G T 19: 4,374,960 (GRCm39) Q724K probably benign Het
Lama3 G T 18: 12,615,194 (GRCm39) G1373W probably damaging Het
Lhx1 A T 11: 84,413,034 (GRCm39) F84Y probably damaging Het
Lpxn G A 19: 12,802,163 (GRCm39) V163M probably benign Het
Lrrc7 T C 3: 157,841,012 (GRCm39) Q1389R probably benign Het
Lrtm2 T C 6: 119,294,238 (GRCm39) R298G probably damaging Het
Ltv1 A G 10: 13,056,739 (GRCm39) V268A probably benign Het
Mgat4d T A 8: 84,095,580 (GRCm39) probably null Het
Mknk2 C A 10: 80,507,767 (GRCm39) R33L probably damaging Het
Muc16 T C 9: 18,557,340 (GRCm39) I2984M unknown Het
Mup12 A C 4: 60,696,657 (GRCm39) F74V probably damaging Het
Nacad A C 11: 6,551,196 (GRCm39) L665R probably benign Het
Pde6a T A 18: 61,398,142 (GRCm39) probably null Het
Plb1 A G 5: 32,471,429 (GRCm39) N579D possibly damaging Het
Podn T A 4: 107,876,001 (GRCm39) I552F possibly damaging Het
Potefam1 A G 2: 110,999,937 (GRCm39) probably null Het
Pramel32 T A 4: 88,547,102 (GRCm39) I106F probably damaging Het
Prl3b1 A T 13: 27,427,875 (GRCm39) M62L probably benign Het
Ptpn13 G T 5: 103,698,919 (GRCm39) R1134L probably damaging Het
Rpl37 T A 15: 5,147,990 (GRCm39) probably null Het
Samd4 T A 14: 47,311,607 (GRCm39) probably null Het
Sh3rf2 T C 18: 42,286,130 (GRCm39) V541A probably benign Het
Shcbp1 A G 8: 4,799,380 (GRCm39) V335A probably damaging Het
Slc7a7 T C 14: 54,612,057 (GRCm39) Y282C probably damaging Het
Spag7 T C 11: 70,555,418 (GRCm39) K125E possibly damaging Het
Spata31e4 T C 13: 50,855,972 (GRCm39) Y537H probably benign Het
Sptan1 T C 2: 29,910,467 (GRCm39) S1831P possibly damaging Het
Stab1 T C 14: 30,863,395 (GRCm39) K2097R probably benign Het
Stk38 A G 17: 29,193,338 (GRCm39) W364R probably benign Het
Tectb G A 19: 55,170,350 (GRCm39) G67D probably damaging Het
Ttll9 G T 2: 152,833,525 (GRCm39) D208Y probably damaging Het
Tyro3 G A 2: 119,647,156 (GRCm39) D758N probably damaging Het
Tyw1 T C 5: 130,310,792 (GRCm39) probably benign Het
Unc5b C T 10: 60,614,091 (GRCm39) A253T probably benign Het
Wtap A T 17: 13,186,945 (GRCm39) probably null 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
R5981:Ms4a1 UTSW 19 11,229,180 (GRCm39) missense probably benign 0.02
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'- ATCCAGGTGCTAACTGGTGC -3'
(R):5'- GCACCATCAAGGGACTACTAAG -3'

Sequencing Primer
(F):5'- GTGCTAACTGGTGCCCTCTG -3'
(R):5'- AGATTGCCAAAGACTCTGATCTC -3'
Posted On 2018-04-27