Incidental Mutation 'IGL01123:Diras1'
ID 52127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Diras1
Ensembl Gene ENSMUSG00000043670
Gene Name DIRAS family, GTP-binding RAS-like 1
Synonyms GBTS1, Di-Ras1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL01123
Quality Score
Status
Chromosome 10
Chromosomal Location 80855423-80861496 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 80858249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000055605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055125] [ENSMUST00000144640]
AlphaFold Q91Z61
Predicted Effect probably damaging
Transcript: ENSMUST00000055125
AA Change: M1L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055605
Gene: ENSMUSG00000043670
AA Change: M1L

DomainStartEndE-ValueType
RAS 5 171 1.14e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144640
AA Change: M1L

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120173
Gene: ENSMUSG00000043670
AA Change: M1L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,849,934 (GRCm39) D167E probably damaging Het
Aadat A T 8: 60,979,648 (GRCm39) E170V probably benign Het
Acsf2 T C 11: 94,461,276 (GRCm39) E300G probably benign Het
Agbl3 C T 6: 34,823,911 (GRCm39) Q859* probably null Het
Arhgap11a T C 2: 113,665,118 (GRCm39) probably benign Het
Arhgef40 C A 14: 52,231,803 (GRCm39) Q730K probably damaging Het
Armc3 C T 2: 19,206,616 (GRCm39) P13L possibly damaging Het
B3gnt2 T A 11: 22,786,490 (GRCm39) T233S probably benign Het
Bnc1 G A 7: 81,623,455 (GRCm39) Q591* probably null Het
Bsn A T 9: 107,993,185 (GRCm39) F856I probably damaging Het
CK137956 T A 4: 127,829,643 (GRCm39) T558S probably benign Het
Coq8b G A 7: 26,939,509 (GRCm39) V180I probably damaging Het
Csmd1 A T 8: 17,584,944 (GRCm39) L16Q possibly damaging Het
Dhx37 A G 5: 125,496,152 (GRCm39) S769P possibly damaging Het
Fam161b A G 12: 84,404,438 (GRCm39) W81R probably benign Het
Fat4 A T 3: 39,011,418 (GRCm39) I2173L probably benign Het
Fbn2 T C 18: 58,237,153 (GRCm39) T617A possibly damaging Het
Gabrq G A X: 71,880,439 (GRCm39) D311N probably benign Het
Isl2 G T 9: 55,452,746 (GRCm39) G335C probably damaging Het
Kbtbd7 T C 14: 79,666,052 (GRCm39) V628A probably damaging Het
Kmt2d T C 15: 98,735,029 (GRCm39) M5378V unknown Het
Lrrc23 G T 6: 124,755,782 (GRCm39) D75E probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Matn1 T C 4: 130,677,322 (GRCm39) I177T possibly damaging Het
Mtor T C 4: 148,537,494 (GRCm39) S60P probably benign Het
Naip6 T C 13: 100,440,946 (GRCm39) E278G probably benign Het
Nsun6 T C 2: 15,053,789 (GRCm39) I7V possibly damaging Het
Pabpc6 A T 17: 9,887,076 (GRCm39) S492T probably benign Het
Pakap C T 4: 57,757,627 (GRCm39) Q188* probably null Het
Pom121 A T 5: 135,420,560 (GRCm39) V287D unknown Het
Ptprq A T 10: 107,522,079 (GRCm39) F624Y probably damaging Het
Ptprr A G 10: 116,024,222 (GRCm39) T178A probably benign Het
Pygm A G 19: 6,441,424 (GRCm39) N473S probably benign Het
Ros1 A T 10: 51,996,905 (GRCm39) Y1256N probably damaging Het
Scpep1 T C 11: 88,832,154 (GRCm39) N192S possibly damaging Het
Serpina1f A G 12: 103,660,265 (GRCm39) S6P possibly damaging Het
Sgca T A 11: 94,863,113 (GRCm39) Q80L probably damaging Het
Skint6 A G 4: 112,661,879 (GRCm39) L1235P possibly damaging Het
Slc23a2 A C 2: 131,898,736 (GRCm39) N600K probably benign Het
Spata20 T C 11: 94,374,221 (GRCm39) T350A probably benign Het
Syne1 G T 10: 5,294,921 (GRCm39) Y1227* probably null Het
Unc13c T C 9: 73,840,479 (GRCm39) Y124C probably benign Het
Usp40 G A 1: 87,913,845 (GRCm39) T416I probably benign Het
Vmn1r200 T C 13: 22,579,571 (GRCm39) W116R probably benign Het
Vps4a T C 8: 107,765,851 (GRCm39) probably benign Het
Zfyve16 A G 13: 92,629,030 (GRCm39) V1469A probably damaging Het
Other mutations in Diras1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02574:Diras1 APN 10 80,858,119 (GRCm39) missense probably damaging 1.00
IGL03178:Diras1 APN 10 80,858,211 (GRCm39) missense possibly damaging 0.70
R0044:Diras1 UTSW 10 80,857,972 (GRCm39) nonsense probably null
R0044:Diras1 UTSW 10 80,857,972 (GRCm39) nonsense probably null
R4343:Diras1 UTSW 10 80,858,018 (GRCm39) nonsense probably null
R5289:Diras1 UTSW 10 80,858,078 (GRCm39) nonsense probably null
R5707:Diras1 UTSW 10 80,857,915 (GRCm39) missense probably benign 0.11
R7752:Diras1 UTSW 10 80,857,895 (GRCm39) missense probably damaging 1.00
Z1177:Diras1 UTSW 10 80,858,116 (GRCm39) missense possibly damaging 0.64
Posted On 2013-06-21