Incidental Mutation 'IGL02687:Rab11a'
ID303605
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab11a
Ensembl Gene ENSMUSG00000004771
Gene NameRAB11A, member RAS oncogene family
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.225) question?
Stock #IGL02687
Quality Score
Status
Chromosome9
Chromosomal Location64715299-64737758 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64726698 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 119 (I119T)
Ref Sequence ENSEMBL: ENSMUSP00000129163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004892] [ENSMUST00000167569] [ENSMUST00000169058] [ENSMUST00000171100] [ENSMUST00000172298]
Predicted Effect probably benign
Transcript: ENSMUST00000004892
AA Change: I119T

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004892
Gene: ENSMUSG00000004771
AA Change: I119T

DomainStartEndE-ValueType
RAB 12 153 1.47e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166857
Predicted Effect probably benign
Transcript: ENSMUST00000167569
SMART Domains Protein: ENSMUSP00000125755
Gene: ENSMUSG00000004771

DomainStartEndE-ValueType
Pfam:Ras 5 44 1e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000168366
AA Change: I4T
SMART Domains Protein: ENSMUSP00000128150
Gene: ENSMUSG00000004771
AA Change: I4T

DomainStartEndE-ValueType
Pfam:Ras 1 59 2.5e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169058
AA Change: I119T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129729
Gene: ENSMUSG00000004771
AA Change: I119T

DomainStartEndE-ValueType
RAB 12 153 5.11e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171100
SMART Domains Protein: ENSMUSP00000127968
Gene: ENSMUSG00000004771

DomainStartEndE-ValueType
Pfam:Ras 1 55 1e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172298
AA Change: I119T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129163
Gene: ENSMUSG00000004771
AA Change: I119T

DomainStartEndE-ValueType
RAB 12 175 1.01e-115 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197528
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,114,232 V1315A probably damaging Het
Adam2 A T 14: 66,069,190 C117S probably damaging Het
Arpp21 T A 9: 112,065,815 R792* probably null Het
Atp13a3 A G 16: 30,337,551 M938T probably damaging Het
Atp6v0a2 C T 5: 124,714,142 T545M possibly damaging Het
BC051019 T C 7: 109,716,352 D84G possibly damaging Het
Bdkrb1 T A 12: 105,604,832 L219H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap46 T C 7: 139,607,201 D2415G probably damaging Het
Csgalnact2 T C 6: 118,124,415 probably null Het
Cyp4a29 T C 4: 115,251,200 C374R probably damaging Het
Dgkb C A 12: 38,630,629 P776Q possibly damaging Het
Duox1 A T 2: 122,336,415 K1005M probably damaging Het
Dusp6 C A 10: 99,266,182 F343L probably damaging Het
Espl1 C T 15: 102,313,178 probably benign Het
Filip1l T C 16: 57,571,127 S455P probably benign Het
Gm7995 A G 14: 42,311,405 I81V probably damaging Het
Lingo4 T C 3: 94,402,097 L114P probably damaging Het
Mfsd6 A G 1: 52,708,675 S344P probably damaging Het
Mpc1 G A 17: 8,297,143 S162N probably benign Het
Myh11 T A 16: 14,212,618 K1143* probably null Het
Nek10 T C 14: 14,840,570 L152P probably damaging Het
Olfr598 C T 7: 103,329,400 R305* probably null Het
Olfr815 T C 10: 129,902,102 M203V probably benign Het
Olfr995 T A 2: 85,438,586 N191Y possibly damaging Het
Spata31d1d T A 13: 59,727,864 H619L possibly damaging Het
Ulk4 A T 9: 121,192,662 V661E possibly damaging Het
Vmn1r199 T C 13: 22,382,791 V85A possibly damaging Het
Other mutations in Rab11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02474:Rab11a APN 9 64726647 missense possibly damaging 0.89
R0317:Rab11a UTSW 9 64725553 missense probably damaging 0.99
R4527:Rab11a UTSW 9 64725568 missense probably benign 0.38
R7860:Rab11a UTSW 9 64728331 nonsense probably null
R7943:Rab11a UTSW 9 64728331 nonsense probably null
Posted On2015-04-16