Incidental Mutation 'R3921:Ms4a4a'
ID 315759
Institutional Source Beutler Lab
Gene Symbol Ms4a4a
Ensembl Gene ENSMUSG00000101389
Gene Name membrane-spanning 4-domains, subfamily A, member 4A
Synonyms EG666907
MMRRC Submission 040818-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R3921 (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 C at 11356172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 19 (Q19P)
Ref Sequence ENSEMBL: ENSMUSP00000140768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000188995]
AlphaFold A0A087WRT7
Predicted Effect probably benign
Transcript: ENSMUST00000188995
AA Change: Q19P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140768
Gene: ENSMUSG00000101389
AA Change: Q19P

DomainStartEndE-ValueType
Pfam:CD20 46 188 5.4e-34 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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, 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,498 (GRCm39) L317Q probably damaging Het
Aebp2 C T 6: 140,579,461 (GRCm39) R11C probably damaging Het
Anxa8 T C 14: 33,816,403 (GRCm39) F201L probably damaging Het
Armh4 A G 14: 50,011,659 (GRCm39) F16S probably benign Het
Bcl7a A G 5: 123,509,136 (GRCm39) N206S probably benign Het
Birc6 A G 17: 74,934,014 (GRCm39) N2542D probably damaging Het
Cubn A G 2: 13,331,488 (GRCm39) Y2562H probably damaging Het
Dnah12 C G 14: 26,493,008 (GRCm39) D1256E probably damaging Het
Dnajb14 A T 3: 137,610,613 (GRCm39) R280S probably damaging Het
Dop1a A T 9: 86,402,324 (GRCm39) I1173F probably benign Het
Fam228a T C 12: 4,781,506 (GRCm39) T118A probably benign Het
Gata2 TGCCATGGGCTAGGCAAGCC TGCC 6: 88,182,464 (GRCm39) probably null Het
Hif3a T C 7: 16,771,097 (GRCm39) D618G possibly damaging Het
Ighv1-43 C A 12: 114,909,772 (GRCm39) G50V probably benign Het
Lrrc37a G T 11: 103,392,296 (GRCm39) T1043N probably benign Het
Masp2 T A 4: 148,690,188 (GRCm39) D232E possibly damaging Het
Nckipsd A G 9: 108,691,275 (GRCm39) E399G possibly damaging Het
Nnt T A 13: 119,503,030 (GRCm39) T572S probably damaging Het
Olig3 A G 10: 19,232,423 (GRCm39) D16G probably damaging Het
Or4a74 C T 2: 89,439,853 (GRCm39) V198I probably benign Het
Or5p57 T A 7: 107,665,108 (GRCm39) D299V possibly damaging Het
Polr2b T C 5: 77,474,500 (GRCm39) Y446H probably damaging Het
Prtg T C 9: 72,755,629 (GRCm39) V277A probably damaging Het
Rnf31 T C 14: 55,838,599 (GRCm39) Y857H probably damaging Het
Serac1 T C 17: 6,117,067 (GRCm39) D163G probably damaging Het
Slc22a22 C A 15: 57,119,940 (GRCm39) V197F probably benign Het
Slc2a10 C T 2: 165,357,521 (GRCm39) P394S probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
St7 A G 6: 17,846,244 (GRCm39) N120D probably benign Het
Sult2a6 C T 7: 13,988,668 (GRCm39) V31M possibly damaging Het
Taf3 T C 2: 10,053,109 (GRCm39) T35A probably benign Het
Tmem131l A G 3: 83,847,908 (GRCm39) I319T possibly damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l T TTGGATG 15: 10,537,649 (GRCm39) probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Vmn2r9 T G 5: 108,996,921 (GRCm39) Y116S probably benign Het
Vstm2l A G 2: 157,777,283 (GRCm39) T54A probably benign Het
Xrn1 T A 9: 95,851,337 (GRCm39) M153K probably benign Het
Zfp106 G A 2: 120,364,097 (GRCm39) P770L probably damaging Het
Other mutations in Ms4a4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0103:Ms4a4a UTSW 19 11,370,048 (GRCm39) missense possibly damaging 0.85
R3834:Ms4a4a UTSW 19 11,356,219 (GRCm39) missense probably benign 0.00
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 PCR Primer
(F):5'- CAGCATGAAGTTTCCTTGATTTGTAGG -3'
(R):5'- TGAAACTAGCAGGACACCGTG -3'

Sequencing Primer
(F):5'- GGTTCTAGCATATGTAACTCAGTCC -3'
(R):5'- TAGCAGGACACCGTGGTTGG -3'
Posted On 2015-05-15