Incidental Mutation 'IGL00233:Ms4a7'
ID306853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a7
Ensembl Gene ENSMUSG00000024672
Gene Namemembrane-spanning 4-domains, subfamily A, member 7
Synonyms9130422I10Rik, CD20l4, CFFMA, A430103C15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL00233
Quality Score
Status
Chromosome19
Chromosomal Location11321039-11336146 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 11322360 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 89 (V89D)
Ref Sequence ENSEMBL: ENSMUSP00000124911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025574] [ENSMUST00000056035] [ENSMUST00000067532] [ENSMUST00000159269]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025574
AA Change: V226D

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025574
Gene: ENSMUSG00000024672
AA Change: V226D

DomainStartEndE-ValueType
Pfam:CD20 80 237 4.6e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000056035
AA Change: V174D

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054830
Gene: ENSMUSG00000024672
AA Change: V174D

DomainStartEndE-ValueType
transmembrane domain 53 72 N/A INTRINSIC
Pfam:CD20 92 185 3.2e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000067532
AA Change: V193D

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064534
Gene: ENSMUSG00000024672
AA Change: V193D

DomainStartEndE-ValueType
Pfam:CD20 47 204 4.9e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159269
AA Change: V89D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124911
Gene: ENSMUSG00000024672
AA Change: V89D

DomainStartEndE-ValueType
Pfam:CD20 1 100 1.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162785
Coding Region Coverage
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 which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp1 A T 3: 132,677,143 probably benign Het
Arpc5 A G 1: 152,768,907 I64V probably benign Het
C030048H21Rik G A 2: 26,256,620 R1227W probably damaging Het
Cacnb1 T C 11: 98,022,364 E21G possibly damaging Het
Catsper3 A G 13: 55,798,822 K111E possibly damaging Het
Cda T C 4: 138,367,846 Y33C probably damaging Het
Celsr3 A T 9: 108,848,925 R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 G128R probably damaging Het
Col9a1 A G 1: 24,185,225 S163G unknown Het
Cyp4v3 T C 8: 45,307,003 D64G probably benign Het
Dst C A 1: 34,251,839 L837M probably damaging Het
Eif2ak4 T A 2: 118,464,055 I1349N probably damaging Het
Elob C A 17: 23,824,980 probably null Het
Glipr1 T A 10: 111,985,650 I216L probably benign Het
Gm3238 C T 10: 77,771,292 probably benign Het
Gm43638 C T 5: 87,460,399 R527H probably damaging Het
H2-M11 A G 17: 36,547,553 K80E probably benign Het
Htt A G 5: 34,896,026 probably null Het
Kif26a A G 12: 112,157,632 S224G probably damaging Het
Mgat5b T A 11: 116,931,662 M74K probably damaging Het
Nlrx1 G A 9: 44,264,068 T137I probably benign Het
Pcdhb12 A G 18: 37,436,982 T394A probably benign Het
Pkhd1l1 T C 15: 44,477,586 I151T probably damaging Het
Plcl1 T C 1: 55,406,536 V50A probably benign Het
Prkd2 T C 7: 16,865,862 F750S probably damaging Het
Psmd13 T C 7: 140,897,621 V311A probably damaging Het
Rec8 C T 14: 55,623,515 Q334* probably null Het
Rfx7 G A 9: 72,607,690 V157I probably damaging Het
Sele G A 1: 164,051,834 C312Y probably damaging Het
Sorcs3 A G 19: 48,748,319 T694A probably benign Het
Tma16 G T 8: 66,480,445 Q95K probably benign Het
Vmn1r191 T C 13: 22,178,720 D288G probably damaging Het
Vmn1r231 A T 17: 20,890,566 I29N possibly damaging Het
Vmn2r1 T A 3: 64,104,968 L750* probably null Het
Other mutations in Ms4a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Ms4a7 APN 19 11322387 missense possibly damaging 0.86
IGL02409:Ms4a7 APN 19 11324443 nonsense probably null
R1851:Ms4a7 UTSW 19 11324424 missense probably benign 0.08
R5426:Ms4a7 UTSW 19 11325802 splice site probably null
R5468:Ms4a7 UTSW 19 11322414 missense probably benign 0.39
R6267:Ms4a7 UTSW 19 11333295 missense possibly damaging 0.88
R6756:Ms4a7 UTSW 19 11324525 missense possibly damaging 0.93
R6990:Ms4a7 UTSW 19 11333241 missense probably damaging 0.99
R7260:Ms4a7 UTSW 19 11322346 missense probably damaging 1.00
R7272:Ms4a7 UTSW 19 11333278 nonsense probably null
R7397:Ms4a7 UTSW 19 11321552 missense probably benign 0.16
R7678:Ms4a7 UTSW 19 11324504 missense probably benign 0.03
Posted On2015-04-16