Incidental Mutation 'R2443:Ms4a6d'
ID 249894
Institutional Source Beutler Lab
Gene Symbol Ms4a6d
Ensembl Gene ENSMUSG00000024679
Gene Name membrane-spanning 4-domains, subfamily A, member 6D
Synonyms Ms4a11
MMRRC Submission 040401-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2443 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 11563970-11582150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11567557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 115 (H115Y)
Ref Sequence ENSEMBL: ENSMUSP00000025582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025582] [ENSMUST00000125291]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000025582
AA Change: H115Y

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025582
Gene: ENSMUSG00000024679
AA Change: H115Y

DomainStartEndE-ValueType
Pfam:CD20 47 207 2.8e-42 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125291
AA Change: H7Y

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115142
Gene: ENSMUSG00000024679
AA Change: H7Y

DomainStartEndE-ValueType
Pfam:CD20 1 99 3.7e-15 PFAM
low complexity region 114 127 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155669
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc13 C T 9: 102,511,222 (GRCm39) P37S probably damaging Het
Asxl3 T A 18: 22,544,596 (GRCm39) D39E probably benign Het
Cfap91 A G 16: 38,123,094 (GRCm39) Y645H probably damaging Het
Clec4d G A 6: 123,245,076 (GRCm39) V119M probably benign Het
Dennd11 T C 6: 40,383,710 (GRCm39) D444G probably damaging Het
Dlx2 A G 2: 71,376,349 (GRCm39) S130P probably benign Het
Dync2li1 C A 17: 84,955,093 (GRCm39) Q251K probably benign Het
Edem1 A T 6: 108,828,230 (GRCm39) K518N probably benign Het
Elapor1 A T 3: 108,388,665 (GRCm39) N239K probably damaging Het
Fbln2 T C 6: 91,236,693 (GRCm39) V736A probably damaging Het
Fga A G 3: 82,935,848 (GRCm39) K25R probably benign Het
Hmcn1 C A 1: 150,474,783 (GRCm39) R4701S probably benign Het
Ighv8-5 G A 12: 115,031,440 (GRCm39) P33L probably damaging Het
Kcnip3 T A 2: 127,301,983 (GRCm39) I194F probably damaging Het
Kif26b A C 1: 178,742,579 (GRCm39) I892L probably damaging Het
Krt78 C T 15: 101,855,033 (GRCm39) G926E probably damaging Het
Map1b T C 13: 99,566,919 (GRCm39) Y1934C unknown Het
Masp1 A T 16: 23,295,062 (GRCm39) Y400N probably damaging Het
Methig1 T C 15: 100,251,092 (GRCm39) M1T probably null Het
Mmp19 A G 10: 128,634,725 (GRCm39) E447G possibly damaging Het
Myo1e C T 9: 70,234,454 (GRCm39) S269L probably benign Het
Myo7a G A 7: 97,744,976 (GRCm39) T288I probably benign Het
Npy5r T A 8: 67,133,942 (GRCm39) K284* probably null Het
Oas3 C A 5: 120,915,553 (GRCm39) R46L probably benign Het
Or5l14 A T 2: 87,793,209 (GRCm39) V9E possibly damaging Het
Pkd1l3 T A 8: 110,350,447 (GRCm39) S431T probably benign Het
Pnpla2 T C 7: 141,037,982 (GRCm39) V184A possibly damaging Het
Pomt2 C A 12: 87,180,154 (GRCm39) K282N probably damaging Het
Psmd12 T A 11: 107,386,563 (GRCm39) M378K probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Strn3 A T 12: 51,674,618 (GRCm39) Y389N probably damaging Het
Tdrd1 C T 19: 56,829,786 (GRCm39) A220V probably null Het
Tecpr2 T G 12: 110,862,759 (GRCm39) L57R probably damaging Het
Tkfc A G 19: 10,571,902 (GRCm39) L378P probably damaging Het
Tmprss2 T G 16: 97,369,703 (GRCm39) D357A possibly damaging Het
Tollip C T 7: 141,444,560 (GRCm39) W64* probably null Het
Vcan A G 13: 89,852,794 (GRCm39) F722S probably damaging Het
Vcp A T 4: 42,983,385 (GRCm39) N558K probably damaging Het
Vmn1r232 A G 17: 21,133,646 (GRCm39) I318T probably damaging Het
Vmn1r33 A T 6: 66,588,957 (GRCm39) I199K possibly damaging Het
Zfp61 A G 7: 23,991,194 (GRCm39) V319A probably benign Het
Zfyve28 A G 5: 34,374,238 (GRCm39) V592A possibly damaging Het
Other mutations in Ms4a6d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Ms4a6d APN 19 11,579,249 (GRCm39) missense probably damaging 0.99
IGL01638:Ms4a6d APN 19 11,564,532 (GRCm39) missense probably damaging 0.99
IGL01799:Ms4a6d APN 19 11,567,499 (GRCm39) missense probably damaging 1.00
IGL02304:Ms4a6d APN 19 11,580,505 (GRCm39) splice site probably benign
R1873:Ms4a6d UTSW 19 11,579,223 (GRCm39) missense probably damaging 1.00
R1993:Ms4a6d UTSW 19 11,567,523 (GRCm39) missense probably damaging 1.00
R2900:Ms4a6d UTSW 19 11,567,508 (GRCm39) missense probably damaging 1.00
R5288:Ms4a6d UTSW 19 11,564,500 (GRCm39) missense possibly damaging 0.78
R6251:Ms4a6d UTSW 19 11,564,504 (GRCm39) missense probably damaging 0.99
R7339:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7340:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7341:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7342:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7347:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7348:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7350:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7368:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7393:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R7394:Ms4a6d UTSW 19 11,567,437 (GRCm39) nonsense probably null
R8020:Ms4a6d UTSW 19 11,567,472 (GRCm39) missense probably benign 0.00
R8181:Ms4a6d UTSW 19 11,580,653 (GRCm39) missense probably damaging 0.99
R8785:Ms4a6d UTSW 19 11,570,400 (GRCm39) critical splice donor site probably benign
R9262:Ms4a6d UTSW 19 11,579,216 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TTACAGTCAGAGCAGCTTTGG -3'
(R):5'- CTGAAGTACTGTCTGGCATGGG -3'

Sequencing Primer
(F):5'- CACGAAGCAGCTGTTTAATGGCTC -3'
(R):5'- AAGTACTGTCTGGCATGGGATCATAC -3'
Posted On 2014-11-12