Incidental Mutation 'R7752:Diras1'
ID 597308
Institutional Source Beutler Lab
Gene Symbol Diras1
Ensembl Gene ENSMUSG00000043670
Gene Name DIRAS family, GTP-binding RAS-like 1
Synonyms GBTS1, Di-Ras1
MMRRC Submission 045808-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R7752 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 80855423-80861496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80857895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 119 (V119M)
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: V119M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055605
Gene: ENSMUSG00000043670
AA Change: V119M

DomainStartEndE-ValueType
RAS 5 171 1.14e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144640
SMART Domains Protein: ENSMUSP00000120173
Gene: ENSMUSG00000043670

DomainStartEndE-ValueType
Pfam:Miro 9 108 3.4e-17 PFAM
Pfam:Ras 9 108 2.4e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 A T 5: 137,665,966 (GRCm39) F98I probably damaging Het
Akap13 T A 7: 75,327,006 (GRCm39) N668K possibly damaging Het
Aox4 G A 1: 58,293,107 (GRCm39) V868I not run Het
Ccdc39 T C 3: 33,886,766 (GRCm39) R281G possibly damaging Het
Ccnt1 A T 15: 98,441,797 (GRCm39) D490E probably benign Het
Cfhr2 T A 1: 139,741,322 (GRCm39) I218F probably damaging Het
Clcn4 T C 7: 7,296,936 (GRCm39) K234R probably benign Het
Col4a2 A T 8: 11,479,358 (GRCm39) D747V probably benign Het
Cplane1 A G 15: 8,299,190 (GRCm39) E3126G unknown Het
Csf1r T A 18: 61,243,368 (GRCm39) L128Q probably damaging Het
Dcp1b G T 6: 119,152,318 (GRCm39) R22L possibly damaging Het
Ddx6 T G 9: 44,538,960 (GRCm39) F256C probably damaging Het
Ect2l T A 10: 18,017,712 (GRCm39) D681V possibly damaging Het
Eme1 G T 11: 94,541,645 (GRCm39) P59Q probably damaging Het
Farp1 G C 14: 121,495,359 (GRCm39) E605Q probably damaging Het
Frem1 G T 4: 82,877,614 (GRCm39) T1321K probably benign Het
Gcn1 T A 5: 115,753,627 (GRCm39) L2326Q probably damaging Het
Gpld1 T A 13: 25,146,758 (GRCm39) V240E probably damaging Het
Gpr4 C A 7: 18,956,340 (GRCm39) H87Q probably damaging Het
Ifi213 A T 1: 173,394,784 (GRCm39) S584T probably benign Het
Il36b C T 2: 24,048,826 (GRCm39) T77M possibly damaging Het
Inf2 A G 12: 112,576,118 (GRCm39) E865G unknown Het
Klk1b1 T C 7: 43,620,669 (GRCm39) I253T probably damaging Het
Lcmt1 G T 7: 122,969,030 (GRCm39) M8I unknown Het
Mrs2 T A 13: 25,202,549 (GRCm39) D64V possibly damaging Het
Ms4a20 A G 19: 11,079,224 (GRCm39) I148T probably benign Het
Muc4 A G 16: 32,589,108 (GRCm39) Y755C Het
Ncoa3 T A 2: 165,907,688 (GRCm39) L1099* probably null Het
Nlrp6 T C 7: 140,507,353 (GRCm39) V873A possibly damaging Het
Nup155 C T 15: 8,145,926 (GRCm39) P159L possibly damaging Het
Or10v1 A T 19: 11,873,898 (GRCm39) H171L probably benign Het
Or1ak2 A T 2: 36,827,630 (GRCm39) L166F probably damaging Het
Or4m1 A T 14: 50,557,573 (GRCm39) S240T probably damaging Het
Pex5 A G 6: 124,380,860 (GRCm39) S255P probably damaging Het
Pex5 T C 6: 124,390,977 (GRCm39) T58A probably benign Het
Phip T G 9: 82,772,203 (GRCm39) M1115L probably benign Het
Ppl T G 16: 4,920,166 (GRCm39) S410R probably benign Het
Ppp1r17 G A 6: 55,999,441 (GRCm39) D25N probably damaging Het
Pramel51 T C 12: 88,142,769 (GRCm39) E478G probably damaging Het
Prox2 T A 12: 85,134,815 (GRCm39) I489F probably damaging Het
Ptprb C G 10: 116,205,333 (GRCm39) P1896A probably benign Het
Rgl2 T C 17: 34,154,799 (GRCm39) L601P possibly damaging Het
Sash1 C T 10: 8,656,328 (GRCm39) W221* probably null Het
Skint1 A C 4: 111,876,399 (GRCm39) T107P probably damaging Het
Slc41a2 A G 10: 83,091,905 (GRCm39) S453P possibly damaging Het
Sox11 A T 12: 27,391,439 (GRCm39) N323K probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Thbd C A 2: 148,248,894 (GRCm39) V325L probably damaging Het
Tmco5 T C 2: 116,722,743 (GRCm39) F288S probably damaging Het
Traj16 T C 14: 54,440,645 (GRCm39) Y19H unknown Het
Trip11 A G 12: 101,853,233 (GRCm39) V454A probably benign Het
Tsg101 G T 7: 46,563,183 (GRCm39) Q24K probably benign Het
Ttn T C 2: 76,555,370 (GRCm39) E30545G probably damaging Het
Unkl T C 17: 25,437,627 (GRCm39) S200P probably damaging Het
Vwa2 T A 19: 56,897,672 (GRCm39) I659N probably damaging Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Zfp592 T G 7: 80,674,469 (GRCm39) S478A probably benign Het
Zfp664 A T 5: 124,962,839 (GRCm39) K78* probably null Het
Zfp738 A T 13: 67,821,110 (GRCm39) L79* probably null Het
Zfyve28 C T 5: 34,382,326 (GRCm39) R258Q probably damaging Het
Other mutations in Diras1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Diras1 APN 10 80,858,249 (GRCm39) start codon destroyed probably damaging 1.00
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
Z1177:Diras1 UTSW 10 80,858,116 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- CAACCTTACTGTAGGCTGGTG -3'
(R):5'- TGACAAGAGCGTGTGCACAC -3'

Sequencing Primer
(F):5'- AGACTCAAGCTGGCTCTGG -3'
(R):5'- GCACACTGCAGATCACGG -3'
Posted On 2019-11-26