Incidental Mutation 'IGL02737:Rab11fip5'
ID305720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab11fip5
Ensembl Gene ENSMUSG00000051343
Gene NameRAB11 family interacting protein 5 (class I)
SynonymsRIP11, D6Ertd32e, GAF1, 9130206P09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02737
Quality Score
Status
Chromosome6
Chromosomal Location85334962-85374634 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 85348558 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 289 (G289W)
Ref Sequence ENSEMBL: ENSMUSP00000058305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060837] [ENSMUST00000204087]
Predicted Effect probably damaging
Transcript: ENSMUST00000060837
AA Change: G289W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343
AA Change: G289W

DomainStartEndE-ValueType
C2 20 143 8.7e-7 SMART
low complexity region 248 265 N/A INTRINSIC
low complexity region 313 322 N/A INTRINSIC
low complexity region 356 391 N/A INTRINSIC
Pfam:RBD-FIP 593 640 5.1e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204087
AA Change: G289W

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343
AA Change: G289W

DomainStartEndE-ValueType
C2 20 143 5.8e-9 SMART
low complexity region 248 265 N/A INTRINSIC
low complexity region 313 322 N/A INTRINSIC
low complexity region 356 391 N/A INTRINSIC
low complexity region 529 547 N/A INTRINSIC
low complexity region 560 568 N/A INTRINSIC
low complexity region 603 627 N/A INTRINSIC
low complexity region 687 692 N/A INTRINSIC
low complexity region 713 732 N/A INTRINSIC
low complexity region 852 887 N/A INTRINSIC
low complexity region 893 901 N/A INTRINSIC
low complexity region 1037 1052 N/A INTRINSIC
low complexity region 1068 1106 N/A INTRINSIC
low complexity region 1115 1149 N/A INTRINSIC
Pfam:RBD-FIP 1266 1313 8.5e-20 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110051M20Rik T A 2: 91,304,797 Q9L probably damaging Het
4932414N04Rik T A 2: 68,736,560 H434Q possibly damaging Het
5430401F13Rik A T 6: 131,552,592 I50L probably benign Het
Ahnak G A 19: 9,004,593 M1080I probably benign Het
Aoc1 A G 6: 48,907,643 K540R probably benign Het
Aplp2 T C 9: 31,153,416 M585V probably benign Het
C3 A G 17: 57,204,281 L1607P probably benign Het
C6 A G 15: 4,796,914 K660E probably benign Het
Cabin1 T C 10: 75,713,585 T1329A probably benign Het
Ccdc141 T A 2: 77,057,924 N499I probably damaging Het
Cdh5 A G 8: 104,142,928 D762G probably damaging Het
Cep152 T C 2: 125,586,474 R746G possibly damaging Het
Cps1 A T 1: 67,148,774 Q198L probably benign Het
D10Wsu102e T A 10: 83,364,445 M90K probably damaging Het
Eri3 T C 4: 117,564,860 F112L probably damaging Het
Fam180a C A 6: 35,313,553 R165L probably benign Het
Fam205a1 C A 4: 42,849,431 L908F possibly damaging Het
Fkbp10 A C 11: 100,422,655 I252L probably benign Het
Gtf2f1 G T 17: 57,003,918 Q410K possibly damaging Het
Hmcn1 T C 1: 150,563,828 Y5535C probably damaging Het
Ifrd2 T A 9: 107,592,170 D372E probably benign Het
Il3ra A G 14: 14,350,760 N165S probably benign Het
Kntc1 A G 5: 123,819,120 N2164S probably benign Het
Krtap19-9a A G 16: 88,924,211 noncoding transcript Het
Olfr103 T A 17: 37,336,773 H153L possibly damaging Het
Pclo T C 5: 14,714,163 S4217P unknown Het
Ppfibp1 G A 6: 147,027,308 V798I probably damaging Het
Prune2 A T 19: 17,193,411 R165* probably null Het
Ptges T C 2: 30,892,686 Y118C probably damaging Het
Rfc1 T C 5: 65,311,163 D69G possibly damaging Het
Scube1 A G 15: 83,721,843 probably benign Het
Slc5a6 G A 5: 31,037,167 P565L probably benign Het
Sncaip C A 18: 52,907,056 T774K probably benign Het
Specc1l G A 10: 75,246,324 S535N probably damaging Het
Tbk1 C T 10: 121,559,862 G442E probably null Het
Thoc7 A T 14: 13,953,443 M78K possibly damaging Het
Usp15 A G 10: 123,131,032 F461S probably damaging Het
Vmn2r6 T A 3: 64,556,490 I308L possibly damaging Het
Zhx2 C A 15: 57,822,267 T344N probably damaging Het
Other mutations in Rab11fip5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Rab11fip5 APN 6 85337552 missense probably damaging 1.00
IGL02471:Rab11fip5 APN 6 85348225 missense probably damaging 0.99
IGL02725:Rab11fip5 APN 6 85374489 missense probably damaging 0.99
PIT4812001:Rab11fip5 UTSW 6 85341558 missense probably benign 0.38
R0627:Rab11fip5 UTSW 6 85348051 missense probably benign 0.05
R1652:Rab11fip5 UTSW 6 85348297 missense probably damaging 0.97
R1961:Rab11fip5 UTSW 6 85348991 missense possibly damaging 0.87
R2106:Rab11fip5 UTSW 6 85374387 missense probably damaging 0.98
R2142:Rab11fip5 UTSW 6 85337228 critical splice acceptor site probably null
R4729:Rab11fip5 UTSW 6 85374267 missense probably damaging 0.99
R5001:Rab11fip5 UTSW 6 85347806 missense probably damaging 1.00
R5116:Rab11fip5 UTSW 6 85348807 missense probably damaging 1.00
R5506:Rab11fip5 UTSW 6 85374137 missense probably damaging 1.00
R5801:Rab11fip5 UTSW 6 85337600 missense probably damaging 0.99
R6338:Rab11fip5 UTSW 6 85341378 missense possibly damaging 0.94
R6696:Rab11fip5 UTSW 6 85341946 missense possibly damaging 0.65
R6763:Rab11fip5 UTSW 6 85342170 missense probably benign 0.02
R6880:Rab11fip5 UTSW 6 85348845 missense probably damaging 0.99
R6932:Rab11fip5 UTSW 6 85341558 missense probably benign 0.38
R7042:Rab11fip5 UTSW 6 85374128 missense possibly damaging 0.82
R7112:Rab11fip5 UTSW 6 85348194 missense probably damaging 1.00
R7197:Rab11fip5 UTSW 6 85342155 missense probably damaging 1.00
R7384:Rab11fip5 UTSW 6 85348330 missense possibly damaging 0.47
R7395:Rab11fip5 UTSW 6 85341868 missense probably benign
R7451:Rab11fip5 UTSW 6 85341556 missense probably benign 0.06
R7482:Rab11fip5 UTSW 6 85340778 missense probably benign 0.41
Posted On2015-04-16