Incidental Mutation 'IGL01383:Rab17'
ID 78937
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 # IGL01383
Quality Score
Status
Chromosome 1
Chromosomal Location 90885855-90897383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 90887815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 115 (D115A)
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: D115A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027529
Gene: ENSMUSG00000026304
AA Change: D115A

DomainStartEndE-ValueType
RAB 21 183 2.17e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128226
Predicted Effect probably damaging
Transcript: ENSMUST00000130042
AA Change: D115A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114240
Gene: ENSMUSG00000026304
AA Change: D115A

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: D115A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122178
Gene: ENSMUSG00000026304
AA Change: D115A

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
4930555G01Rik C A 14: 5,051,570 (GRCm38) probably null Het
Abca9 A C 11: 110,004,119 (GRCm39) probably benign Het
Aox1 T A 1: 58,333,464 (GRCm39) M227K probably benign Het
Asb5 T A 8: 55,003,544 (GRCm39) L22H probably damaging Het
Atrx T C X: 104,845,681 (GRCm39) D2309G probably damaging Het
Cand1 T A 10: 119,044,072 (GRCm39) T1074S probably damaging Het
Cep97 T C 16: 55,731,970 (GRCm39) E534G probably damaging Het
Cftr C A 6: 18,226,040 (GRCm39) N329K probably benign Het
Clec7a T C 6: 129,449,603 (GRCm39) T16A probably damaging Het
Col1a1 G A 11: 94,836,351 (GRCm39) R674H probably damaging Het
Csf2rb2 T C 15: 78,181,243 (GRCm39) S50G possibly damaging Het
Eepd1 A G 9: 25,393,778 (GRCm39) D14G probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Grin1 C A 2: 25,186,979 (GRCm39) R694L possibly damaging Het
Gtf3c1 A G 7: 125,298,672 (GRCm39) I151T probably damaging Het
Havcr2 T C 11: 46,360,375 (GRCm39) S152P probably damaging Het
Hvcn1 T C 5: 122,375,766 (GRCm39) V15A probably damaging Het
Iqca1l A T 5: 24,753,292 (GRCm39) N453K probably benign Het
Map3k10 C T 7: 27,357,424 (GRCm39) V785M probably benign Het
Mis18bp1 T C 12: 65,195,763 (GRCm39) N667S probably benign Het
Mup3 A C 4: 62,004,196 (GRCm39) Y106D probably damaging Het
Mypn G T 10: 62,971,576 (GRCm39) N821K probably damaging Het
Odad1 T C 7: 45,589,124 (GRCm39) S179P probably damaging Het
Or2y1c T A 11: 49,361,880 (GRCm39) W301R probably benign Het
Or52b4 A G 7: 102,184,140 (GRCm39) Y62C probably benign Het
Or5ac25 A T 16: 59,182,316 (GRCm39) N88K probably benign Het
Or5i1 A G 2: 87,613,217 (GRCm39) D111G possibly damaging Het
Pcdhb10 A T 18: 37,546,328 (GRCm39) H468L probably benign Het
Pramel27 T G 4: 143,573,102 (GRCm39) probably benign Het
Prp2 C A 6: 132,576,841 (GRCm39) P43T unknown Het
Psg26 A G 7: 18,214,179 (GRCm39) V161A possibly damaging Het
Rrp1b T C 17: 32,277,552 (GRCm39) F611L probably damaging Het
Skor1 T A 9: 63,053,838 (GRCm39) T44S probably benign Het
Spaca5 T C X: 20,934,725 (GRCm39) probably benign Het
Tatdn3 G A 1: 190,787,578 (GRCm39) probably benign Het
Tbk1 T C 10: 121,412,184 (GRCm39) D118G probably damaging Het
Tnfsf13b T C 8: 10,081,528 (GRCm39) F230S probably damaging Het
Tnrc6c T C 11: 117,605,083 (GRCm39) S73P probably benign Het
Vmn2r109 A G 17: 20,761,383 (GRCm39) V658A possibly damaging Het
Vmn2r116 C T 17: 23,620,575 (GRCm39) L770F probably damaging Het
Wwp2 T A 8: 108,259,923 (GRCm39) probably null Het
Other mutations in Rab17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02672:Rab17 APN 1 90,886,940 (GRCm39) missense probably damaging 1.00
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 2013-11-05