Incidental Mutation 'IGL02574:Diras1'
ID299134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Diras1
Ensembl Gene ENSMUSG00000043670
Gene NameDIRAS family, GTP-binding RAS-like 1
SynonymsGBTS1, Di-Ras1
Accession Numbers

Ncbi RefSeq: NM_145217.2; MGI:2183442

Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #IGL02574
Quality Score
Status
Chromosome10
Chromosomal Location81019589-81025662 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81022285 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 44 (Y44C)
Ref Sequence ENSEMBL: ENSMUSP00000120173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055125] [ENSMUST00000144640]
Predicted Effect probably damaging
Transcript: ENSMUST00000055125
AA Change: Y44C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055605
Gene: ENSMUSG00000043670
AA Change: Y44C

DomainStartEndE-ValueType
RAS 5 171 1.14e-82 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000144640
AA Change: Y44C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120173
Gene: ENSMUSG00000043670
AA Change: Y44C

DomainStartEndE-ValueType
Pfam:Miro 9 108 3.4e-17 PFAM
Pfam:Ras 9 108 2.4e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151873
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
Allele List at MGI

All alleles(5) : Targeted(3) Gene trapped(2)

Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 T C 9: 43,005,623 D409G probably damaging Het
AW551984 A C 9: 39,589,086 L792R possibly damaging Het
Cep192 A G 18: 67,841,279 E1151G probably damaging Het
Cfap44 C A 16: 44,481,383 P1828Q probably damaging Het
Chid1 A T 7: 141,496,690 probably benign Het
Col6a6 C A 9: 105,782,191 L518F probably damaging Het
Ctsz C T 2: 174,429,098 R201K probably benign Het
D430042O09Rik A G 7: 125,829,753 T516A possibly damaging Het
Grip1 T C 10: 119,942,913 V159A probably damaging Het
Hpd T C 5: 123,179,357 probably benign Het
Jag2 T C 12: 112,915,511 N463S probably benign Het
Kmt2a C A 9: 44,830,513 probably benign Het
Myo5a A G 9: 75,211,147 N1619D probably benign Het
Ncbp1 A G 4: 46,168,449 probably null Het
Olfr103 G T 17: 37,336,524 A236E probably damaging Het
Olfr133 C T 17: 38,149,389 T267I possibly damaging Het
Pacsin2 G T 15: 83,388,663 A154E possibly damaging Het
Plcd4 A T 1: 74,564,380 I647F probably damaging Het
Prdm10 C T 9: 31,357,293 A846V probably damaging Het
Ptgs2 G T 1: 150,102,775 G213* probably null Het
Rcan3 C T 4: 135,425,395 S5N probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Serpinc1 A G 1: 161,002,459 N465S probably benign Het
Slc40a1 T C 1: 45,912,374 I208V possibly damaging Het
Vcl C T 14: 20,929,575 Q19* probably null Het
Other mutations in Diras1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Diras1 APN 10 81022415 start codon destroyed probably damaging 1.00
IGL03178:Diras1 APN 10 81022377 missense possibly damaging 0.70
R0044:Diras1 UTSW 10 81022138 nonsense probably null
R0044:Diras1 UTSW 10 81022138 nonsense probably null
R4343:Diras1 UTSW 10 81022184 nonsense probably null
R5289:Diras1 UTSW 10 81022244 nonsense probably null
R5707:Diras1 UTSW 10 81022081 missense probably benign 0.11
R7752:Diras1 UTSW 10 81022061 missense probably damaging 1.00
Z1177:Diras1 UTSW 10 81022282 missense possibly damaging 0.64
Posted On2015-04-16