Incidental Mutation 'IGL02276:Gm4951'
ID287332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4951
Ensembl Gene ENSMUSG00000073555
Gene Namepredicted gene 4951
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02276
Quality Score
Status
Chromosome18
Chromosomal Location60212080-60247820 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60246079 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 229 (I229F)
Ref Sequence ENSEMBL: ENSMUSP00000031549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031549]
Predicted Effect probably damaging
Transcript: ENSMUST00000031549
AA Change: I229F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031549
Gene: ENSMUSG00000073555
AA Change: I229F

DomainStartEndE-ValueType
Pfam:IIGP 34 402 4.8e-157 PFAM
Pfam:MMR_HSR1 70 198 2.8e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,559,128 V1140A probably damaging Het
B020004J07Rik T C 4: 101,838,109 S2G possibly damaging Het
Ccdc88b A G 19: 6,856,107 probably null Het
Cep135 A G 5: 76,634,246 N904S probably benign Het
Dnajc12 G A 10: 63,408,258 R109Q probably damaging Het
Dpp4 A G 2: 62,356,951 probably benign Het
Duox2 A T 2: 122,294,085 N380K probably benign Het
Dusp11 A T 6: 85,958,617 D91E probably damaging Het
Fkbp15 C A 4: 62,336,466 E266* probably null Het
Gm10337 A G 15: 102,503,734 V324A probably damaging Het
Grik3 A T 4: 125,623,502 D46V possibly damaging Het
Hdac9 G A 12: 34,431,926 T181I probably damaging Het
Large1 T A 8: 72,818,093 M686L probably benign Het
Lca5 C A 9: 83,398,585 L387F possibly damaging Het
Mtmr9 A T 14: 63,530,276 W295R probably damaging Het
Olfr132 A G 17: 38,130,593 S200P probably damaging Het
Olfr194 A C 16: 59,120,015 D18E probably benign Het
Phf20l1 T A 15: 66,615,410 probably null Het
Plce1 A G 19: 38,524,757 S167G probably benign Het
Plekha6 C A 1: 133,293,861 D934E possibly damaging Het
Ptpn6 A C 6: 124,728,865 D105E probably null Het
Rtp1 T C 16: 23,431,313 S143P probably benign Het
Rttn A C 18: 89,048,454 Q1208P possibly damaging Het
Snx27 A T 3: 94,531,379 V183D probably damaging Het
Stim2 T C 5: 54,053,370 probably benign Het
Trak1 A T 9: 121,451,668 E271D probably damaging Het
Ttn A T 2: 76,943,882 probably benign Het
Vmn2r4 G A 3: 64,406,456 T279I possibly damaging Het
Vmn2r73 A T 7: 85,869,772 probably null Het
Zfp819 G A 7: 43,612,004 V32I possibly damaging Het
Other mutations in Gm4951
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Gm4951 APN 18 60246293 missense probably damaging 1.00
IGL00807:Gm4951 APN 18 60245411 missense probably damaging 1.00
IGL00956:Gm4951 APN 18 60246190 missense probably damaging 1.00
IGL01017:Gm4951 APN 18 60245436 missense possibly damaging 0.87
IGL01929:Gm4951 APN 18 60246482 missense probably benign 0.02
IGL02267:Gm4951 APN 18 60246398 missense probably damaging 0.97
IGL02499:Gm4951 APN 18 60245638 missense probably damaging 1.00
IGL02538:Gm4951 APN 18 60245872 nonsense probably null
IGL03139:Gm4951 APN 18 60246149 missense probably benign 0.01
IGL03209:Gm4951 APN 18 60246071 missense probably damaging 1.00
IGL03270:Gm4951 APN 18 60245476 missense probably benign 0.01
IGL03325:Gm4951 APN 18 60245811 nonsense probably null
Carboniferous UTSW 18 60245768 missense probably damaging 1.00
Oily UTSW 18 60245652 missense probably damaging 1.00
R0554:Gm4951 UTSW 18 60245417 missense probably benign 0.15
R2046:Gm4951 UTSW 18 60245499 missense probably benign 0.00
R2296:Gm4951 UTSW 18 60245470 missense probably benign 0.00
R4583:Gm4951 UTSW 18 60246080 missense possibly damaging 0.93
R5500:Gm4951 UTSW 18 60246020 missense probably damaging 0.99
R5532:Gm4951 UTSW 18 60246070 missense probably benign 0.23
R5938:Gm4951 UTSW 18 60245652 missense probably damaging 1.00
R6446:Gm4951 UTSW 18 60245768 missense probably damaging 1.00
R7191:Gm4951 UTSW 18 60246257 missense probably benign 0.01
R7238:Gm4951 UTSW 18 60246283 missense possibly damaging 0.64
R7443:Gm4951 UTSW 18 60246050 missense probably benign 0.11
Z1177:Gm4951 UTSW 18 60246296 missense probably benign 0.23
Posted On2015-04-16