Incidental Mutation 'IGL02672:Rab17'
ID 302956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab17
Ensembl Gene ENSMUSG00000026304
Gene Name RAB17, member RAS oncogene family
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02672
Quality Score
Status
Chromosome 1
Chromosomal Location 90885855-90897383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90886940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 160 (E160G)
Ref Sequence ENSEMBL: ENSMUSP00000122178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027529] [ENSMUST00000130042] [ENSMUST00000131428]
AlphaFold P35292
Predicted Effect probably damaging
Transcript: ENSMUST00000027529
AA Change: E160G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027529
Gene: ENSMUSG00000026304
AA Change: E160G

DomainStartEndE-ValueType
RAB 21 183 2.17e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128226
Predicted Effect probably benign
Transcript: ENSMUST00000130042
SMART Domains Protein: ENSMUSP00000114240
Gene: ENSMUSG00000026304

DomainStartEndE-ValueType
Pfam:Arf 11 143 6.3e-17 PFAM
Pfam:Miro 21 135 4.2e-19 PFAM
Pfam:Gtr1_RagA 21 145 1.8e-7 PFAM
Pfam:Ras 21 145 4.2e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131428
AA Change: E160G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122178
Gene: ENSMUSG00000026304
AA Change: E160G

DomainStartEndE-ValueType
RAB 21 183 2.17e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135819
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Rab17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Rab17 APN 1 90,887,815 (GRCm39) missense probably damaging 0.98
R2140:Rab17 UTSW 1 90,887,800 (GRCm39) missense probably benign 0.05
R2389:Rab17 UTSW 1 90,891,926 (GRCm39) missense probably benign 0.09
R5031:Rab17 UTSW 1 90,887,860 (GRCm39) splice site probably null
R5685:Rab17 UTSW 1 90,886,679 (GRCm39) missense probably benign 0.00
R6481:Rab17 UTSW 1 90,886,683 (GRCm39) missense probably benign 0.00
R9609:Rab17 UTSW 1 90,891,907 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16