Incidental Mutation 'R5289:Diras1'
ID 424604
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 042872-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R5289 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80855423-80861496 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 80858078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 58 (Q58*)
Ref Sequence ENSEMBL: ENSMUSP00000120173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055125] [ENSMUST00000144640]
AlphaFold Q91Z61
Predicted Effect probably null
Transcript: ENSMUST00000055125
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000055605
Gene: ENSMUSG00000043670
AA Change: Q58*

DomainStartEndE-ValueType
RAS 5 171 1.14e-82 SMART
Predicted Effect probably null
Transcript: ENSMUST00000144640
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000120173
Gene: ENSMUSG00000043670
AA Change: Q58*

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,669,203 (GRCm39) V1731A probably benign Het
Ahcyl1 A G 3: 107,577,206 (GRCm39) probably null Het
Aox1 T A 1: 58,131,717 (GRCm39) M1042K probably damaging Het
Atp10d C A 5: 72,412,466 (GRCm39) Q590K probably benign Het
Atp8b1 G T 18: 64,679,158 (GRCm39) N774K possibly damaging Het
Atrnl1 C T 19: 57,645,514 (GRCm39) T458M probably damaging Het
Bltp1 C A 3: 37,054,258 (GRCm39) Q3126K probably damaging Het
Cnr1 T A 4: 33,943,910 (GRCm39) C99* probably null Het
Cnr2 A G 4: 135,644,318 (GRCm39) Y132C probably damaging Het
Commd9 C T 2: 101,729,239 (GRCm39) A115V probably benign Het
Diaph3 A G 14: 87,219,114 (GRCm39) F426S probably damaging Het
Dnaaf6rt A T 1: 31,262,608 (GRCm39) I197F probably benign Het
Dpy19l2 A G 9: 24,607,293 (GRCm39) L56P probably benign Het
Dsc1 A T 18: 20,234,910 (GRCm39) V248D possibly damaging Het
Frem3 A G 8: 81,338,948 (GRCm39) M414V probably benign Het
Frmd4b G T 6: 97,279,309 (GRCm39) probably null Het
Gabarapl2 T C 8: 112,669,227 (GRCm39) W62R probably damaging Het
Glt1d1 A G 5: 127,721,420 (GRCm39) R36G probably benign Het
Grb10 T C 11: 11,894,924 (GRCm39) silent Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hc A G 2: 34,886,026 (GRCm39) probably null Het
Hgd A G 16: 37,448,913 (GRCm39) E379G possibly damaging Het
Ifi30 A T 8: 71,219,245 (GRCm39) probably benign Het
Iqgap1 T C 7: 80,388,472 (GRCm39) I842V possibly damaging Het
Iqsec3 T A 6: 121,363,659 (GRCm39) probably null Het
Kalrn A G 16: 34,072,711 (GRCm39) S724P possibly damaging Het
Lama2 C A 10: 27,088,069 (GRCm39) G903* probably null Het
Lrrc10 T C 10: 116,881,392 (GRCm39) V22A probably benign Het
Lzts3 T C 2: 130,478,021 (GRCm39) E245G probably benign Het
Man2a1 A G 17: 64,958,222 (GRCm39) T246A probably damaging Het
Mfsd13a A G 19: 46,356,719 (GRCm39) E240G probably benign Het
Mtor T C 4: 148,550,549 (GRCm39) I735T possibly damaging Het
Naa15 A T 3: 51,363,315 (GRCm39) H333L probably damaging Het
Nes C A 3: 87,885,725 (GRCm39) T1284K probably damaging Het
Nexn T G 3: 151,953,709 (GRCm39) H173P probably benign Het
Nid2 T C 14: 19,855,379 (GRCm39) V1173A possibly damaging Het
Npepps A G 11: 97,131,753 (GRCm39) probably null Het
Pgm1 T A 4: 99,824,266 (GRCm39) M313K probably damaging Het
Plag1 T A 4: 3,905,545 (GRCm39) K48N probably damaging Het
Prok1 G C 3: 107,146,935 (GRCm39) L11V probably benign Het
Ptpn9 T C 9: 56,967,347 (GRCm39) probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc38a4 A T 15: 96,908,229 (GRCm39) F171I possibly damaging Het
Sycp1 A T 3: 102,841,569 (GRCm39) N78K possibly damaging Het
Tas2r110 T C 6: 132,844,972 (GRCm39) M1T probably null Het
Thoc2l G A 5: 104,667,523 (GRCm39) V682I probably benign Het
Tmem260 G A 14: 48,724,267 (GRCm39) V182M possibly damaging Het
Tmem30a A T 9: 79,683,436 (GRCm39) N144K probably damaging Het
Vmn2r108 A G 17: 20,691,866 (GRCm39) L219P probably damaging Het
Vmn2r57 A G 7: 41,049,398 (GRCm39) S784P probably damaging Het
Vwf T C 6: 125,644,473 (GRCm39) probably benign Het
Wdr62 A C 7: 29,967,300 (GRCm39) V318G probably damaging Het
Zfp398 T A 6: 47,840,115 (GRCm39) S115T probably benign Het
Zfp62 T A 11: 49,107,975 (GRCm39) C689S probably damaging Het
Zmynd15 C G 11: 70,356,830 (GRCm39) P580R unknown 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
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
Predicted Primers PCR Primer
(F):5'- TGTTCCCCACCAGCATGATG -3'
(R):5'- TCCTTTCTCCAACAGGGTCG -3'

Sequencing Primer
(F):5'- CAGCATGATGGGGATGTCCTC -3'
(R):5'- TTCTCCAACAGGGTCGGTCTG -3'
Posted On 2016-08-04