Incidental Mutation 'IGL00963:Rit1'
ID27146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rit1
Ensembl Gene ENSMUSG00000028057
Gene NameRas-like without CAAX 1
SynonymsRit
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL00963
Quality Score
Status
Chromosome3
Chromosomal Location88716838-88731049 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88726431 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 94 (V94A)
Ref Sequence ENSEMBL: ENSMUSP00000130464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029692] [ENSMUST00000170377] [ENSMUST00000171645] [ENSMUST00000172252] [ENSMUST00000172333]
Predicted Effect probably damaging
Transcript: ENSMUST00000029692
AA Change: V130A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029692
Gene: ENSMUSG00000028057
AA Change: V130A

DomainStartEndE-ValueType
RAS 19 185 7.95e-114 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166234
Predicted Effect probably benign
Transcript: ENSMUST00000170377
SMART Domains Protein: ENSMUSP00000125858
Gene: ENSMUSG00000028057

DomainStartEndE-ValueType
Pfam:Ras 23 81 4.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171645
SMART Domains Protein: ENSMUSP00000127206
Gene: ENSMUSG00000028057

DomainStartEndE-ValueType
Pfam:Miro 23 109 1.1e-10 PFAM
Pfam:Ras 23 109 1.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172187
Predicted Effect probably damaging
Transcript: ENSMUST00000172252
AA Change: V94A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130464
Gene: ENSMUSG00000028057
AA Change: V94A

DomainStartEndE-ValueType
RAS 1 149 4.73e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172333
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 A C 19: 41,593,789 probably benign Het
Alyref2 C T 1: 171,504,248 Q198* probably null Het
Ankrd13a T C 5: 114,801,802 S497P probably damaging Het
Chd5 C A 4: 152,382,938 N1644K probably damaging Het
Col13a1 T C 10: 61,838,697 probably benign Het
Ctnna3 T A 10: 64,945,949 D730E probably damaging Het
Dock11 A G X: 36,032,382 Q1197R possibly damaging Het
Drosha T A 15: 12,925,997 I1224N probably damaging Het
Dsc1 T C 18: 20,111,986 K42R probably null Het
Engase A G 11: 118,482,998 D322G probably damaging Het
Ephb2 T C 4: 136,658,951 D829G probably benign Het
Fgfr2 C T 7: 130,228,761 M47I probably damaging Het
Gad1-ps G T 10: 99,445,448 noncoding transcript Het
Gatb A G 3: 85,618,948 S378G probably benign Het
Hivep2 G A 10: 14,129,347 S563N probably damaging Het
Irs2 G A 8: 11,005,867 A855V probably benign Het
Jagn1 T C 6: 113,447,475 S103P probably damaging Het
Kdm6a T A X: 18,246,426 probably benign Het
Lmcd1 T C 6: 112,329,934 C356R probably damaging Het
Mefv T A 16: 3,715,720 Y229F possibly damaging Het
Myef2 T C 2: 125,115,475 Y120C probably damaging Het
Myo9a T G 9: 59,900,372 I2074S probably damaging Het
Nhs A G X: 161,847,049 S337P probably damaging Het
Nphp4 T G 4: 152,537,861 H566Q probably benign Het
Olfr618 T A 7: 103,597,637 probably null Het
Olfr715 A T 7: 107,129,065 C109* probably null Het
Pabpc2 C A 18: 39,775,337 Q552K possibly damaging Het
Podn T A 4: 108,022,174 N104I probably damaging Het
Scn7a A T 2: 66,703,945 probably benign Het
Sept4 A T 11: 87,583,373 K29M possibly damaging Het
Sowahb T C 5: 93,044,011 Y283C probably damaging Het
Srbd1 A T 17: 86,115,209 W460R probably damaging Het
Svep1 T A 4: 58,072,791 K2173* probably null Het
Tlr6 T C 5: 64,954,676 N296S possibly damaging Het
Trpm8 A G 1: 88,379,827 D1073G possibly damaging Het
Ttc28 A T 5: 111,286,389 K2399* probably null Het
Ttn A G 2: 76,887,283 probably benign Het
Uroc1 C T 6: 90,338,828 T189I probably benign Het
Usp18 C T 6: 121,255,382 Q122* probably null Het
Zfp420 T C 7: 29,875,093 I246T probably damaging Het
Zfp644 T C 5: 106,638,637 probably null Het
Zfp871 A T 17: 32,774,752 V483E probably benign Het
Other mutations in Rit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1520:Rit1 UTSW 3 88729313 missense probably benign 0.00
R1837:Rit1 UTSW 3 88729170 missense probably damaging 1.00
R1838:Rit1 UTSW 3 88729170 missense probably damaging 1.00
R2299:Rit1 UTSW 3 88726070 critical splice donor site probably null
R4745:Rit1 UTSW 3 88717675 unclassified probably benign
R5564:Rit1 UTSW 3 88726150 intron probably benign
R5594:Rit1 UTSW 3 88729137 missense probably damaging 1.00
R6606:Rit1 UTSW 3 88717638 missense probably damaging 1.00
R6773:Rit1 UTSW 3 88726369 splice site probably null
Posted On2013-04-17