Incidental Mutation 'IGL00807:Gm4951'
ID11012
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 #IGL00807
Quality Score
Status
Chromosome18
Chromosomal Location60212080-60247820 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 60245411 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 6 (S6F)
Ref Sequence ENSEMBL: ENSMUSP00000031549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031549]
Predicted Effect probably damaging
Transcript: ENSMUST00000031549
AA Change: S6F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031549
Gene: ENSMUSG00000073555
AA Change: S6F

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,378,285 T3453S probably benign Het
Ahnak T A 19: 9,008,522 V2390E possibly damaging Het
Aldh8a1 A T 10: 21,395,430 I352F probably damaging Het
Ccnt2 T C 1: 127,797,891 probably benign Het
Ccr1l1 A T 9: 123,977,469 W314R probably benign Het
Cdc42bpa A G 1: 180,141,453 I1218V possibly damaging Het
Dlc1 G A 8: 36,572,848 T1386I probably benign Het
Frs2 A C 10: 117,074,886 probably benign Het
Gria1 T C 11: 57,012,040 Y3H probably benign Het
Ints2 T C 11: 86,233,135 N609S probably damaging Het
Lyst T A 13: 13,650,423 M1541K possibly damaging Het
Mmachc A T 4: 116,705,921 V79E probably damaging Het
Nfe2l2 T C 2: 75,679,413 D21G probably damaging Het
Pde2a G A 7: 101,504,412 V436M probably damaging Het
Rhot1 C T 11: 80,226,102 H101Y probably benign Het
Sh2d4a T C 8: 68,329,366 probably null Het
Taar2 A G 10: 23,940,675 M38V probably benign Het
Tek A T 4: 94,798,719 N158I probably damaging Het
Znrd1as G T 17: 36,964,921 A132S probably damaging Het
Other mutations in Gm4951
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Gm4951 APN 18 60246293 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
IGL02276:Gm4951 APN 18 60246079 missense probably damaging 0.99
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 On2012-12-06