Incidental Mutation 'IGL02275:4930596D02Rik'
ID287312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930596D02Rik
Ensembl Gene ENSMUSG00000041068
Gene NameRIKEN cDNA 4930596D02 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.240) question?
Stock #IGL02275
Quality Score
Status
Chromosome14
Chromosomal Location35809488-35811978 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35811923 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 9 (T9A)
Ref Sequence ENSEMBL: ENSMUSP00000039186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043266]
Predicted Effect probably benign
Transcript: ENSMUST00000043266
AA Change: T9A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000039186
Gene: ENSMUSG00000041068
AA Change: T9A

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
RasGEFN 64 186 8.6e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,906,282 D130V probably damaging Het
Anapc1 C A 2: 128,659,852 A757S probably benign Het
Bpifa6 A T 2: 153,992,272 D328V probably benign Het
Casc1 T C 6: 145,177,364 Y592C probably damaging Het
Cdh19 T A 1: 110,925,886 K275I probably benign Het
Col18a1 A G 10: 77,059,383 I1148T possibly damaging Het
Commd1 A T 11: 22,900,017 V222D probably damaging Het
Crim1 T A 17: 78,369,998 M876K possibly damaging Het
Dennd1b C A 1: 139,081,254 H232N probably damaging Het
Dhx57 T C 17: 80,274,839 T393A probably benign Het
Gabrb2 G T 11: 42,591,894 R193L probably benign Het
Gm5828 T A 1: 16,769,118 noncoding transcript Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Hsp90ab1 T C 17: 45,568,438 Y619C possibly damaging Het
Kctd19 A G 8: 105,396,374 I136T probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1361 A C 13: 21,659,000 F108V probably benign Het
Sel1l T C 12: 91,815,015 Y532C probably damaging Het
Sirpb1a A G 3: 15,410,409 probably null Het
Ush2a C T 1: 188,263,269 T79M possibly damaging Het
Usp24 T C 4: 106,387,493 V1215A probably damaging Het
Vdac3-ps1 T C 13: 18,030,794 noncoding transcript Het
Vmn2r75 T C 7: 86,165,140 T382A probably benign Het
Vps53 T C 11: 76,047,123 Y728C probably benign Het
Other mutations in 4930596D02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:4930596D02Rik APN 14 35810213 missense possibly damaging 0.95
IGL01622:4930596D02Rik APN 14 35810067 nonsense probably null
IGL01623:4930596D02Rik APN 14 35810067 nonsense probably null
IGL02049:4930596D02Rik APN 14 35811578 missense probably benign 0.19
IGL02668:4930596D02Rik APN 14 35810117 missense probably benign 0.02
IGL02684:4930596D02Rik APN 14 35810063 nonsense probably null
R0178:4930596D02Rik UTSW 14 35811478 missense probably benign 0.44
R0601:4930596D02Rik UTSW 14 35810189 missense probably damaging 1.00
R0609:4930596D02Rik UTSW 14 35811461 critical splice donor site probably null
R1664:4930596D02Rik UTSW 14 35811815 missense probably benign 0.01
R1899:4930596D02Rik UTSW 14 35810132 missense probably damaging 1.00
R5153:4930596D02Rik UTSW 14 35810255 missense probably benign 0.00
R6222:4930596D02Rik UTSW 14 35809966 makesense probably null
R6935:4930596D02Rik UTSW 14 35811907 missense probably benign
R7314:4930596D02Rik UTSW 14 35811649 missense probably benign
Posted On2015-04-16