Incidental Mutation 'R6457:Ms4a5'
ID 516558
Institutional Source Beutler Lab
Gene Symbol Ms4a5
Ensembl Gene ENSMUSG00000054523
Gene Name membrane-spanning 4-domains, subfamily A, member 5
Synonyms
MMRRC Submission 044592-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R6457 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 11251514-11261259 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 11256646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 84 (I84L)
Ref Sequence ENSEMBL: ENSMUSP00000139493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067673] [ENSMUST00000186937] [ENSMUST00000188267]
AlphaFold Q810P8
Predicted Effect probably benign
Transcript: ENSMUST00000067673
AA Change: I84L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000066960
Gene: ENSMUSG00000054523
AA Change: I84L

DomainStartEndE-ValueType
Pfam:CD20 49 189 1.6e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181137
Predicted Effect probably benign
Transcript: ENSMUST00000186937
SMART Domains Protein: ENSMUSP00000139805
Gene: ENSMUSG00000054523

DomainStartEndE-ValueType
Pfam:CD20 50 146 4.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188267
AA Change: I84L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139493
Gene: ENSMUSG00000054523
AA Change: I84L

DomainStartEndE-ValueType
Pfam:CD20 49 100 4.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191110
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 97% (63/65)
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. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,383 (GRCm39) V524E probably damaging Het
Acer2 T A 4: 86,818,808 (GRCm39) M152K probably damaging Het
Actn3 T C 19: 4,921,876 (GRCm39) D130G probably damaging Het
Ank1 T A 8: 23,577,983 (GRCm39) F211Y probably damaging Het
Ankfn1 C T 11: 89,282,670 (GRCm39) A326T probably benign Het
Ankrd11 G A 8: 123,635,503 (GRCm39) R44C probably damaging Het
Ankrd46 A G 15: 36,484,217 (GRCm39) probably benign Het
Aurkb G A 11: 68,939,172 (GRCm39) E132K possibly damaging Het
Bsdc1 C T 4: 129,359,069 (GRCm39) T9I possibly damaging Het
Card14 C T 11: 119,230,428 (GRCm39) R767* probably null Het
Ccdc82 T A 9: 13,272,745 (GRCm39) F411L possibly damaging Het
Col12a1 C T 9: 79,552,973 (GRCm39) G2106D probably damaging Het
Col27a1 T A 4: 63,237,701 (GRCm39) probably benign Het
Cox10 A G 11: 63,855,198 (GRCm39) L361P probably damaging Het
Cox18 A G 5: 90,371,548 (GRCm39) I84T probably benign Het
Dhrs3 T C 4: 144,646,522 (GRCm39) S125P probably damaging Het
Fbxl15 A G 19: 46,317,765 (GRCm39) H149R probably benign Het
Flg2 T A 3: 93,127,789 (GRCm39) S2234T unknown Het
Gtf2e1 A C 16: 37,356,698 (GRCm39) probably null Het
H2-Q7 A T 17: 35,658,655 (GRCm39) S98C probably damaging Het
Hcn2 G T 10: 79,569,607 (GRCm39) E536* probably null Het
Kat6b A T 14: 21,720,748 (GRCm39) H1700L probably damaging Het
Klhl3 C T 13: 58,248,192 (GRCm39) V35I probably benign Het
Krt34 A T 11: 99,930,916 (GRCm39) L162Q probably damaging Het
Ly9 A G 1: 171,416,663 (GRCm39) S644P probably damaging Het
Magi1 A T 6: 93,676,620 (GRCm39) V685E probably damaging Het
Malrd1 A G 2: 15,531,408 (GRCm39) probably benign Het
Malrd1 A T 2: 15,672,740 (GRCm39) H599L probably benign Het
Matn2 T A 15: 34,426,380 (GRCm39) C631S probably damaging Het
Megf8 A T 7: 25,049,120 (GRCm39) D1739V probably damaging Het
Mlf1 G A 3: 67,300,277 (GRCm39) R98Q probably benign Het
Mprip T A 11: 59,649,815 (GRCm39) I1173K possibly damaging Het
Mrc1 A G 2: 14,275,016 (GRCm39) D439G probably damaging Het
Mroh5 A T 15: 73,662,691 (GRCm39) W208R probably damaging Het
Myt1 G A 2: 181,405,218 (GRCm39) probably null Het
Nbea T A 3: 55,907,990 (GRCm39) H1374L probably damaging Het
Nbeal1 T A 1: 60,292,633 (GRCm39) I1095K probably benign Het
Nolc1 A G 19: 46,071,509 (GRCm39) probably benign Het
Nr5a2 A G 1: 136,887,976 (GRCm39) L18P probably benign Het
Nup188 G T 2: 30,212,199 (GRCm39) C562F probably damaging Het
Obscn A G 11: 58,971,597 (GRCm39) V2415A probably damaging Het
Pacsin2 A T 15: 83,263,879 (GRCm39) probably null Het
Pias3 A G 3: 96,606,839 (GRCm39) H34R possibly damaging Het
Ppfia2 T C 10: 106,729,361 (GRCm39) V903A probably damaging Het
Pramel1 T A 4: 143,123,275 (GRCm39) L84Q probably damaging Het
Pramel6 G A 2: 87,339,782 (GRCm39) C182Y probably damaging Het
Prdm4 A G 10: 85,743,896 (GRCm39) Y120H probably damaging Het
Prss28 A G 17: 25,530,331 (GRCm39) M212V probably benign Het
Rbp3 G T 14: 33,677,224 (GRCm39) G391* probably null Het
Rc3h2 C T 2: 37,301,151 (GRCm39) probably null Het
Ret A G 6: 118,150,582 (GRCm39) F645L probably benign Het
Saxo5 T C 8: 3,529,268 (GRCm39) L251P probably damaging Het
Sgsm2 A G 11: 74,755,995 (GRCm39) S402P possibly damaging Het
Shc3 T A 13: 51,636,915 (GRCm39) probably null Het
Slc25a16 A G 10: 62,776,938 (GRCm39) N246S probably benign Het
Snrpd1 T A 18: 10,623,694 (GRCm39) H26Q probably benign Het
Thsd1 A G 8: 22,733,363 (GRCm39) T137A probably damaging Het
Tnik A T 3: 28,593,597 (GRCm39) H151L probably damaging Het
Tns1 T A 1: 73,957,209 (GRCm39) K1725N probably damaging Het
Tomm40l T A 1: 171,048,161 (GRCm39) T147S probably damaging Het
Tomm6 G T 17: 47,998,932 (GRCm39) probably benign Het
Trp53 G A 11: 69,480,440 (GRCm39) C272Y probably damaging Het
Trpm7 A T 2: 126,649,214 (GRCm39) V1492E probably benign Het
Tsen2 G A 6: 115,536,592 (GRCm39) R116H probably benign Het
Uvrag A G 7: 98,555,726 (GRCm39) F456S probably damaging Het
Vmn1r86 A T 7: 12,836,279 (GRCm39) M199K possibly damaging Het
Vmn2r4 C T 3: 64,317,378 (GRCm39) C120Y probably damaging Het
Other mutations in Ms4a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Ms4a5 APN 19 11,261,142 (GRCm39) missense probably benign 0.33
IGL01948:Ms4a5 APN 19 11,256,717 (GRCm39) missense probably damaging 0.99
IGL03341:Ms4a5 APN 19 11,256,742 (GRCm39) missense probably benign 0.03
R0420:Ms4a5 UTSW 19 11,261,018 (GRCm39) missense probably damaging 0.97
R2126:Ms4a5 UTSW 19 11,256,732 (GRCm39) missense probably damaging 1.00
R9190:Ms4a5 UTSW 19 11,256,733 (GRCm39) missense probably damaging 1.00
R9688:Ms4a5 UTSW 19 11,254,058 (GRCm39) missense possibly damaging 0.94
R9689:Ms4a5 UTSW 19 11,254,058 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GCTAACACCTCCCCTGATTGAC -3'
(R):5'- CGTAAAGGAGCATCCATCCTCC -3'

Sequencing Primer
(F):5'- ctataccaaaagtccccca -3'
(R):5'- AGGGTAACTGCCGAATCCTTG -3'
Posted On 2018-05-21