Incidental Mutation 'IGL02627:Ms4a4d'
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ID301135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a4d
Ensembl Gene ENSMUSG00000024678
Gene Namemembrane-spanning 4-domains, subfamily A, member 4D
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02627
Quality Score
Status
Chromosome19
Chromosomal Location11536801-11558467 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 11548623 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 40 (E40D)
Ref Sequence ENSEMBL: ENSMUSP00000025581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025581]
Predicted Effect probably damaging
Transcript: ENSMUST00000025581
AA Change: E40D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025581
Gene: ENSMUSG00000024678
AA Change: E40D

DomainStartEndE-ValueType
Pfam:CD20 43 141 1.5e-18 PFAM
transmembrane domain 146 168 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,795,765 K353M probably damaging Het
2610301B20Rik G A 4: 10,898,039 C207Y probably damaging Het
Arhgap32 T C 9: 32,246,006 Y100H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ckap5 A T 2: 91,576,021 N752I probably damaging Het
Dgkz T A 2: 91,938,710 probably benign Het
Egfr T A 11: 16,869,346 V292E probably damaging Het
Gnb3 T C 6: 124,834,715 T329A probably damaging Het
Igkv3-2 A T 6: 70,698,826 T40S probably damaging Het
Kcnq2 T C 2: 181,082,327 probably benign Het
Mbip T C 12: 56,335,805 Q292R probably benign Het
Mgat5b T C 11: 116,983,616 Y625H probably damaging Het
Naip1 T C 13: 100,425,648 E1003G possibly damaging Het
Ncf2 G A 1: 152,811,008 probably benign Het
Nfkbiz A G 16: 55,816,351 V529A probably damaging Het
Osr2 A G 15: 35,300,454 N52S possibly damaging Het
Prag1 A G 8: 36,139,439 D778G possibly damaging Het
Rsl1d1 G T 16: 11,194,551 A337E possibly damaging Het
Sall3 A T 18: 80,972,361 L784Q possibly damaging Het
Spen A G 4: 141,473,015 I2744T probably damaging Het
Tfip11 A C 5: 112,329,813 S145R possibly damaging Het
Tonsl T C 15: 76,634,095 D559G probably damaging Het
Trmt5 A T 12: 73,281,455 S325T probably damaging Het
Ubr1 A T 2: 120,940,991 V472D probably damaging Het
Vmn1r30 T A 6: 58,435,761 T29S probably benign Het
Vps29 T C 5: 122,362,845 S158P probably benign Het
Wdr82 T C 9: 106,176,687 V79A possibly damaging Het
Wfdc16 T A 2: 164,638,463 E37D possibly damaging Het
Other mutations in Ms4a4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Ms4a4d APN 19 11557971 missense probably damaging 0.99
IGL00951:Ms4a4d APN 19 11554921 missense probably benign 0.00
IGL02806:Ms4a4d APN 19 11556246 missense possibly damaging 0.65
IGL02868:Ms4a4d APN 19 11550282 missense probably damaging 1.00
R0010:Ms4a4d UTSW 19 11554826 missense probably damaging 1.00
R1134:Ms4a4d UTSW 19 11557934 missense possibly damaging 0.49
R4932:Ms4a4d UTSW 19 11557932 missense probably benign 0.05
R5169:Ms4a4d UTSW 19 11557976 missense possibly damaging 0.80
R5390:Ms4a4d UTSW 19 11548640 critical splice donor site probably null
R6581:Ms4a4d UTSW 19 11554840 missense probably damaging 0.99
R7014:Ms4a4d UTSW 19 11548583 missense probably benign 0.17
R7429:Ms4a4d UTSW 19 11557933 missense probably benign 0.38
R7430:Ms4a4d UTSW 19 11557933 missense probably benign 0.38
R8132:Ms4a4d UTSW 19 11557946 missense probably benign 0.02
Posted On2015-04-16