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
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R6366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 11249675-11266241 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11258698 bp (GRCm38)
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

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
4930430A15Rik A G 2: 111,169,592 probably null Het
Agl A G 3: 116,791,117 F185L probably damaging Het
Ank3 A G 10: 69,999,358 D131G probably damaging Het
Boc T C 16: 44,487,652 K947E probably benign Het
C87499 T A 4: 88,628,865 I106F probably damaging Het
Ccdc110 A G 8: 45,943,388 E772G probably damaging Het
Ccdc7a A G 8: 128,855,992 V1055A unknown Het
Chd1l A G 3: 97,594,160 V190A probably benign Het
Chl1 C A 6: 103,729,236 N396K possibly damaging Het
CN725425 T G 15: 91,246,921 Y420D possibly damaging Het
Col6a1 A T 10: 76,710,970 I806N unknown Het
Csmd2 A G 4: 128,483,452 K2042E probably benign Het
Eif4a1 G T 11: 69,670,955 D15E probably benign Het
Etfb T C 7: 43,452,941 L119S probably damaging Het
Fbxo42 T A 4: 141,199,949 S513R probably benign Het
Gm8765 T C 13: 50,701,936 Y537H probably benign Het
Gys2 C A 6: 142,463,394 C45F probably benign Het
Hspa1a G A 17: 34,970,524 P468S probably damaging Het
Kdm2a G T 19: 4,324,932 Q724K probably benign Het
Lama3 G T 18: 12,482,137 G1373W probably damaging Het
Lhx1 A T 11: 84,522,208 F84Y probably damaging Het
Lpxn G A 19: 12,824,799 V163M probably benign Het
Lrrc7 T C 3: 158,135,375 Q1389R probably benign Het
Lrtm2 T C 6: 119,317,277 R298G probably damaging Het
Ltv1 A G 10: 13,180,995 V268A probably benign Het
Mgat4d T A 8: 83,368,951 probably null Het
Mknk2 C A 10: 80,671,933 R33L probably damaging Het
Muc16 T C 9: 18,646,044 I2984M unknown Het
Mup12 A C 4: 60,740,658 F74V probably damaging Het
Nacad A C 11: 6,601,196 L665R probably benign Het
Pde6a T A 18: 61,265,071 probably null Het
Plb1 A G 5: 32,314,085 N579D possibly damaging Het
Podn T A 4: 108,018,804 I552F possibly damaging Het
Prl3b1 A T 13: 27,243,892 M62L probably benign Het
Ptpn13 G T 5: 103,551,053 R1134L probably damaging Het
Rpl37 T A 15: 5,118,508 probably null Het
Samd4 T A 14: 47,074,150 probably null Het
Sh3rf2 T C 18: 42,153,065 V541A probably benign Het
Shcbp1 A G 8: 4,749,380 V335A probably damaging Het
Slc7a7 T C 14: 54,374,600 Y282C probably damaging Het
Spag7 T C 11: 70,664,592 K125E possibly damaging Het
Sptan1 T C 2: 30,020,455 S1831P possibly damaging Het
Stab1 T C 14: 31,141,438 K2097R probably benign Het
Stk38 A G 17: 28,974,364 W364R probably benign Het
Tectb G A 19: 55,181,918 G67D probably damaging Het
Ttll9 G T 2: 152,991,605 D208Y probably damaging Het
Tyro3 G A 2: 119,816,675 D758N probably damaging Het
Tyw1 T C 5: 130,281,951 probably benign Het
Unc5b C T 10: 60,778,312 A253T probably benign Het
Wtap A T 17: 12,968,058 probably null Het
Other mutations in Ms4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Ms4a1 APN 19 11254559 missense probably benign 0.17
bilious UTSW 19 11253178 critical splice donor site probably null
Chartreuse UTSW 19 11258248 missense probably damaging 1.00
Paris_green UTSW 19 11256569 splice site probably null
IGL03097:Ms4a1 UTSW 19 11253192 missense probably benign 0.00
R0437:Ms4a1 UTSW 19 11256569 splice site probably null
R0518:Ms4a1 UTSW 19 11258679 splice site probably null
R0521:Ms4a1 UTSW 19 11258679 splice site probably null
R0704:Ms4a1 UTSW 19 11253232 missense probably benign 0.01
R1532:Ms4a1 UTSW 19 11253193 missense probably benign
R4877:Ms4a1 UTSW 19 11254493 missense probably damaging 0.99
R5089:Ms4a1 UTSW 19 11258812 missense probably benign 0.01
R5903:Ms4a1 UTSW 19 11258248 missense probably damaging 1.00
R5981:Ms4a1 UTSW 19 11251816 missense probably benign 0.02
R6805:Ms4a1 UTSW 19 11253173 splice site probably null
R6864:Ms4a1 UTSW 19 11253178 critical splice donor site probably null
R8985:Ms4a1 UTSW 19 11254691 missense probably benign 0.00
R9052:Ms4a1 UTSW 19 11256590 missense probably benign 0.04
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-04-27