Incidental Mutation 'R3834:Ms4a4a'
ID 474185
Institutional Source Beutler Lab
Gene Symbol Ms4a4a
Ensembl Gene ENSMUSG00000101389
Gene Name membrane-spanning 4-domains, subfamily A, member 4A
Synonyms EG666907
MMRRC Submission 040889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R3834 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 11352887-11370154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11356219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 35 (M35L)
Ref Sequence ENSEMBL: ENSMUSP00000140768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000188995]
AlphaFold A0A087WRT7
Predicted Effect probably benign
Transcript: ENSMUST00000188995
AA Change: M35L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000140768
Gene: ENSMUSG00000101389
AA Change: M35L

DomainStartEndE-ValueType
Pfam:CD20 46 188 5.4e-34 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (44/44)
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, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh6a G A 3: 138,033,275 (GRCm39) probably null Het
Bptf T C 11: 106,964,683 (GRCm39) T1389A probably benign Het
Cfap54 A G 10: 92,636,985 (GRCm39) probably benign Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Coq5 G T 5: 115,422,635 (GRCm39) G180W probably damaging Het
Cyp2d34 A G 15: 82,500,947 (GRCm39) probably null Het
Cyp2j13 C T 4: 95,944,794 (GRCm39) probably null Het
Fam114a1 C T 5: 65,163,416 (GRCm39) T197I possibly damaging Het
Fbxo44 A G 4: 148,240,707 (GRCm39) Y227H probably damaging Het
Gm5114 T A 7: 39,058,161 (GRCm39) H486L possibly damaging Het
Grik4 T C 9: 42,540,419 (GRCm39) R254G probably benign Het
Iqcm T C 8: 76,304,380 (GRCm39) I47T possibly damaging Het
Kif20b A G 19: 34,912,428 (GRCm39) Y278C probably damaging Het
Lbhd1 G A 19: 8,861,421 (GRCm39) C43Y probably benign Het
Lrfn5 T A 12: 61,886,816 (GRCm39) D201E probably damaging Het
Map1a G A 2: 121,137,803 (GRCm39) G2635D probably damaging Het
Muc5b A T 7: 141,412,918 (GRCm39) I1955F unknown Het
Mug2 T C 6: 122,026,746 (GRCm39) probably null Het
Nav2 T A 7: 49,195,606 (GRCm39) I994N possibly damaging Het
Ngly1 T C 14: 16,290,766 (GRCm38) probably benign Het
Nr1i2 T C 16: 38,074,291 (GRCm39) probably null Het
Or51f5 A G 7: 102,424,493 (GRCm39) Y254C probably damaging Het
Or52h9 T A 7: 104,202,552 (GRCm39) V142D probably benign Het
Or5p69 A T 7: 107,967,279 (GRCm39) D194V probably damaging Het
Oxct2a C T 4: 123,216,266 (GRCm39) V372I probably benign Het
Pax6 G A 2: 105,526,795 (GRCm39) E234K probably benign Het
Pramel14 T A 4: 143,720,796 (GRCm39) K48N probably benign Het
Prkdc A G 16: 15,609,810 (GRCm39) E3138G probably damaging Het
Ptprc T A 1: 138,011,305 (GRCm39) N584I probably damaging Het
Ptprt A G 2: 161,389,307 (GRCm39) V1261A probably damaging Het
Rps20 A T 4: 3,834,610 (GRCm39) I84N probably damaging Het
Scd3 A G 19: 44,230,156 (GRCm39) Y313C probably damaging Het
Sertad2 T C 11: 20,598,482 (GRCm39) I226T probably benign Het
Slc15a2 A T 16: 36,592,490 (GRCm39) C191* probably null Het
Slco1a1 G T 6: 141,889,163 (GRCm39) Q50K possibly damaging Het
Stab2 A T 10: 86,785,776 (GRCm39) I622N possibly damaging Het
Tmc4 C T 7: 3,675,006 (GRCm39) V222M probably benign Het
Tmem145 T C 7: 25,010,786 (GRCm39) F359L probably damaging Het
Tmem238 C A 7: 4,792,078 (GRCm39) R155L possibly damaging Het
Vmn1r32 C A 6: 66,530,647 (GRCm39) C43F probably benign Het
Vmn2r104 C T 17: 20,250,183 (GRCm39) R696K probably benign Het
Other mutations in Ms4a4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0103:Ms4a4a UTSW 19 11,370,048 (GRCm39) missense possibly damaging 0.85
R3921:Ms4a4a UTSW 19 11,356,172 (GRCm39) missense probably benign
R4990:Ms4a4a UTSW 19 11,356,201 (GRCm39) missense probably benign 0.25
R5152:Ms4a4a UTSW 19 11,365,676 (GRCm39) missense probably benign 0.03
R6594:Ms4a4a UTSW 19 11,363,778 (GRCm39) missense probably damaging 1.00
R7244:Ms4a4a UTSW 19 11,358,794 (GRCm39) missense probably damaging 1.00
R7625:Ms4a4a UTSW 19 11,367,728 (GRCm39) critical splice donor site probably null
R9364:Ms4a4a UTSW 19 11,367,708 (GRCm39) missense probably benign 0.00
R9554:Ms4a4a UTSW 19 11,367,708 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2017-04-14