Incidental Mutation 'IGL02636:Rab26'
ID301513
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab26
Ensembl Gene ENSMUSG00000079657
Gene NameRAB26, member RAS oncogene family
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL02636
Quality Score
Status
Chromosome17
Chromosomal Location24527241-24534210 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24533559 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 9 (S9G)
Ref Sequence ENSEMBL: ENSMUSP00000055970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035797] [ENSMUST00000061764] [ENSMUST00000176533]
Predicted Effect probably benign
Transcript: ENSMUST00000035797
AA Change: S9G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046089
Gene: ENSMUSG00000079657
AA Change: S9G

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
RAB 68 232 2.84e-101 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000061764
AA Change: S9G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000055970
Gene: ENSMUSG00000079657
AA Change: S9G

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
Pfam:Arf 59 145 1.1e-8 PFAM
Pfam:Ras 69 145 6.6e-27 PFAM
Pfam:Roc 69 157 4.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176215
Predicted Effect probably benign
Transcript: ENSMUST00000176533
AA Change: S44G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135775
Gene: ENSMUSG00000079657
AA Change: S44G

DomainStartEndE-ValueType
low complexity region 75 85 N/A INTRINSIC
RAB 103 267 2.84e-101 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177441
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 C A 6: 85,628,654 Q1960K probably benign Het
Arhgef40 T A 14: 51,997,408 V1056E probably damaging Het
Cdh26 T A 2: 178,449,962 F105I probably damaging Het
Cep162 A T 9: 87,248,379 D59E possibly damaging Het
Cngb3 A T 4: 19,396,690 T348S probably damaging Het
Eci3 A T 13: 34,946,980 probably null Het
Gapvd1 A G 2: 34,725,404 I409T probably benign Het
Golga2 T C 2: 32,296,723 probably null Het
Hoxd3 G A 2: 74,746,954 A393T probably benign Het
Htr5a T C 5: 27,842,660 F71S probably damaging Het
Hyou1 T C 9: 44,381,410 probably null Het
Igsf6 C A 7: 121,067,280 probably benign Het
Klrb1c C A 6: 128,788,552 C25F probably benign Het
Lrguk C A 6: 34,090,188 T483K probably damaging Het
Lrpprc A T 17: 84,753,104 probably benign Het
Lrrk1 A T 7: 66,308,659 probably null Het
Megf8 G A 7: 25,358,432 G2098D probably damaging Het
Nfkbia T C 12: 55,491,173 Q165R possibly damaging Het
Nipsnap2 A G 5: 129,745,290 probably benign Het
Phykpl C T 11: 51,598,713 T382I probably damaging Het
Prdm10 A G 9: 31,329,681 D206G possibly damaging Het
Sema3e C A 5: 14,225,656 N258K probably benign Het
Slfn10-ps T A 11: 83,030,145 noncoding transcript Het
Tgm5 A T 2: 121,076,796 C149S probably damaging Het
Timp4 C T 6: 115,249,824 probably null Het
Traf7 T C 17: 24,512,990 K251E probably benign Het
Ugcg G T 4: 59,207,763 R34L possibly damaging Het
Unc13d T C 11: 116,073,618 H300R probably damaging Het
Vmn1r20 G T 6: 57,431,761 C24F probably benign Het
Vmn2r13 T C 5: 109,192,017 R31G probably damaging Het
Vsig10l A G 7: 43,463,578 T87A possibly damaging Het
Zfp353-ps T A 8: 42,082,440 noncoding transcript Het
Other mutations in Rab26
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0131:Rab26 UTSW 17 24530785 critical splice donor site probably null
R0131:Rab26 UTSW 17 24530785 critical splice donor site probably null
R0132:Rab26 UTSW 17 24530785 critical splice donor site probably null
R0377:Rab26 UTSW 17 24530045 unclassified probably benign
R0567:Rab26 UTSW 17 24529582 missense probably damaging 0.99
R0681:Rab26 UTSW 17 24527966 unclassified probably benign
R5103:Rab26 UTSW 17 24534097 unclassified probably benign
R5226:Rab26 UTSW 17 24534133 unclassified probably benign
R5975:Rab26 UTSW 17 24530399 missense possibly damaging 0.94
R6307:Rab26 UTSW 17 24530098 missense probably damaging 1.00
R6601:Rab26 UTSW 17 24529621 nonsense probably null
R6897:Rab26 UTSW 17 24529792 missense probably damaging 1.00
R7122:Rab26 UTSW 17 24530678 missense probably damaging 1.00
R7155:Rab26 UTSW 17 24532289 missense probably damaging 0.99
Posted On2015-04-16