Incidental Mutation 'R9190:Ms4a5'
ID 697712
Institutional Source Beutler Lab
Gene Symbol Ms4a5
Ensembl Gene ENSMUSG00000054523
Gene Name membrane-spanning 4-domains, subfamily A, member 5
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R9190 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 11251514-11261259 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11256733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 55 (I55F)
Ref Sequence ENSEMBL: ENSMUSP00000066960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067673] [ENSMUST00000186937] [ENSMUST00000188267]
AlphaFold Q810P8
Predicted Effect probably damaging
Transcript: ENSMUST00000067673
AA Change: I55F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066960
Gene: ENSMUSG00000054523
AA Change: I55F

DomainStartEndE-ValueType
Pfam:CD20 49 189 1.6e-34 PFAM
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 damaging
Transcript: ENSMUST00000188267
AA Change: I55F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139493
Gene: ENSMUSG00000054523
AA Change: I55F

DomainStartEndE-ValueType
Pfam:CD20 49 100 4.8e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (52/52)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C T 7: 40,642,880 (GRCm39) T183I possibly damaging Het
Abca13 T A 11: 9,241,886 (GRCm39) S1250T probably damaging Het
Adamts12 T A 15: 11,336,446 (GRCm39) S1510R probably benign Het
Adcy5 T A 16: 35,089,364 (GRCm39) C520* probably null Het
Arhgap21 A T 2: 20,858,983 (GRCm39) M1237K probably null Het
Atp8b4 T A 2: 126,225,607 (GRCm39) N541I probably damaging Het
Bbs12 G T 3: 37,375,223 (GRCm39) R557L probably damaging Het
Bcl7c T C 7: 127,266,200 (GRCm39) T183A probably benign Het
Brd7 A G 8: 89,081,274 (GRCm39) S192P probably damaging Het
Calhm3 G A 19: 47,146,121 (GRCm39) A28V probably benign Het
Ccdc113 A G 8: 96,263,101 (GRCm39) N37S probably damaging Het
Cdh5 T G 8: 104,867,337 (GRCm39) V538G probably damaging Het
Cfap43 T C 19: 47,726,293 (GRCm39) E1639G possibly damaging Het
Clca3a2 C T 3: 144,796,599 (GRCm39) V203I probably benign Het
Clstn2 A G 9: 97,414,815 (GRCm39) F360L probably damaging Het
Cnst GTGACACGCTTG GTG 1: 179,407,039 (GRCm39) probably benign Het
Cog2 T C 8: 125,260,058 (GRCm39) Y234H probably damaging Het
Ddhd2 T C 8: 26,244,495 (GRCm39) S44G probably benign Het
Dync2i2 G T 2: 29,922,211 (GRCm39) H417N probably benign Het
Farp1 A G 14: 121,492,988 (GRCm39) E530G probably damaging Het
Fhad1 C T 4: 141,646,058 (GRCm39) probably null Het
Foxj3 T A 4: 119,477,538 (GRCm39) C449* probably null Het
Fsbp G C 4: 11,584,005 (GRCm39) V235L probably benign Het
Fuom T C 7: 139,681,252 (GRCm39) E73G probably benign Het
Gm5134 A G 10: 75,844,645 (GRCm39) H667R probably damaging Het
Igsf21 A G 4: 139,756,028 (GRCm39) I361T probably damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Kmt2d A T 15: 98,749,896 (GRCm39) V2599E unknown Het
Lama1 T A 17: 68,111,514 (GRCm39) M2255K Het
Litafd C A 16: 8,501,647 (GRCm39) P50T Het
Lrrc32 A G 7: 98,148,234 (GRCm39) H338R probably benign Het
Map1b C A 13: 99,571,914 (GRCm39) R269L probably damaging Het
Muc5b G C 7: 141,411,939 (GRCm39) L1628F unknown Het
Myo6 A G 9: 80,195,384 (GRCm39) Q918R unknown Het
Or1e25 T A 11: 73,493,877 (GRCm39) M157K probably benign Het
Or2t48 A G 11: 58,420,161 (GRCm39) V217A possibly damaging Het
Or5m11b T A 2: 85,805,884 (GRCm39) I99N possibly damaging Het
Or9i1b T G 19: 13,896,967 (GRCm39) N194K probably benign Het
Pals2 A G 6: 50,157,219 (GRCm39) R296G probably damaging Het
Plin5 A G 17: 56,419,462 (GRCm39) V320A probably damaging Het
Ptx4 A T 17: 25,342,257 (GRCm39) Q244L possibly damaging Het
Rab3gap1 A G 1: 127,858,495 (GRCm39) T535A probably benign Het
Ranbp2 T C 10: 58,313,117 (GRCm39) F1279S probably damaging Het
Rgl1 T C 1: 152,428,362 (GRCm39) H254R probably damaging Het
Rida C T 15: 34,487,909 (GRCm39) A69T probably damaging Het
Scn2a T C 2: 65,511,346 (GRCm39) F131L probably benign Het
Septin1 T C 7: 126,816,092 (GRCm39) I141V probably benign Het
Slc10a6 A G 5: 103,765,571 (GRCm39) S171P probably damaging Het
Slc18a1 A G 8: 69,519,790 (GRCm39) probably null Het
Slc38a6 T C 12: 73,388,526 (GRCm39) S247P possibly damaging Het
Tet2 A T 3: 133,187,147 (GRCm39) I1094K possibly damaging Het
Tmem234 C T 4: 129,501,333 (GRCm39) S138L probably benign Het
Trpv1 T A 11: 73,145,148 (GRCm39) probably null Het
Vmn2r60 T A 7: 41,844,935 (GRCm39) M766K probably damaging Het
Vmn2r84 T C 10: 130,226,843 (GRCm39) N332D probably benign Het
Zfp292 A T 4: 34,819,563 (GRCm39) I258N probably damaging Het
Zxdc A G 6: 90,375,773 (GRCm39) K750E 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
R6457:Ms4a5 UTSW 19 11,256,646 (GRCm39) missense probably benign 0.01
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'- GCTAACACCTCCCCTGATTG -3'
(R):5'- GCACTGGGTTAGATTCATTTTCCTC -3'

Sequencing Primer
(F):5'- TTTCCAGTGCTATACCAAAAGTCC -3'
(R):5'- TCCTCTTAGTAATTATCAGATGGGAG -3'
Posted On 2022-02-07