Incidental Mutation 'IGL02317:Rab11b'
ID 288087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab11b
Ensembl Gene ENSMUSG00000077450
Gene Name RAB11B, member RAS oncogene family
Synonyms A730055L17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02317
Quality Score
Status
Chromosome 17
Chromosomal Location 33961458-33979460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33968790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 43 (A43T)
Ref Sequence ENSEMBL: ENSMUSP00000134448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057373] [ENSMUST00000173860] [ENSMUST00000173987]
AlphaFold P46638
Predicted Effect probably damaging
Transcript: ENSMUST00000057373
AA Change: A68T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110021
Gene: ENSMUSG00000077450
AA Change: A68T

DomainStartEndE-ValueType
RAB 12 175 3.76e-115 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172894
AA Change: A10T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134544
Gene: ENSMUSG00000077450
AA Change: A10T

DomainStartEndE-ValueType
RAB 2 118 3.53e-56 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173860
AA Change: A43T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134448
Gene: ENSMUSG00000077450
AA Change: A43T

DomainStartEndE-ValueType
RAB 12 150 3.17e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173987
AA Change: A68T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133921
Gene: ENSMUSG00000077450
AA Change: A68T

DomainStartEndE-ValueType
RAB 12 149 2.81e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174744
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,013,780 (GRCm39) noncoding transcript Het
Aadacl2fm3 A G 3: 59,784,408 (GRCm39) N294D probably benign Het
Aak1 C T 6: 86,933,282 (GRCm39) P418S possibly damaging Het
Abca5 T A 11: 110,218,587 (GRCm39) Q93L probably benign Het
Arhgap22 G T 14: 33,081,230 (GRCm39) V209L probably damaging Het
Atp6v1h G T 1: 5,154,693 (GRCm39) R7L possibly damaging Het
Ccdc86 T C 19: 10,920,556 (GRCm39) Q420R possibly damaging Het
Cep85 C T 4: 133,883,122 (GRCm39) G256R probably damaging Het
Csmd2 T C 4: 128,357,520 (GRCm39) probably benign Het
Dck T C 5: 88,921,942 (GRCm39) Y135H probably damaging Het
Dicer1 T C 12: 104,663,279 (GRCm39) E1434G probably damaging Het
Dst C T 1: 34,334,244 (GRCm39) T4824I probably damaging Het
Fam20c G A 5: 138,792,115 (GRCm39) R404H probably damaging Het
Fat1 G A 8: 45,478,855 (GRCm39) A2611T probably benign Het
Fbxl13 C T 5: 21,727,232 (GRCm39) C555Y probably benign Het
Gprc6a C A 10: 51,497,049 (GRCm39) R323L probably benign Het
Grik2 A G 10: 49,298,711 (GRCm39) F50L probably benign Het
Ibsp A G 5: 104,450,332 (GRCm39) Y50C probably damaging Het
Il16 T A 7: 83,316,097 (GRCm39) H437L probably damaging Het
Irf9 G A 14: 55,845,196 (GRCm39) R352H probably damaging Het
Jph1 T C 1: 17,074,147 (GRCm39) T624A probably benign Het
Lama5 T C 2: 179,833,112 (GRCm39) Y1574C probably damaging Het
Lrrc26 A G 2: 25,180,314 (GRCm39) N105S probably damaging Het
Megf8 C A 7: 25,063,213 (GRCm39) T2523K probably damaging Het
Nckap1l A G 15: 103,370,005 (GRCm39) I135V probably benign Het
Oma1 A G 4: 103,176,234 (GRCm39) probably benign Het
Opa1 T G 16: 29,433,984 (GRCm39) probably null Het
Or13j1 T C 4: 43,706,172 (GRCm39) Y132C probably damaging Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or5m3b T C 2: 85,871,913 (GRCm39) S85P probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Rabl2 A T 15: 89,468,492 (GRCm39) N133K probably damaging Het
Scn10a C T 9: 119,467,621 (GRCm39) V840I probably benign Het
Spata31d1b T C 13: 59,865,854 (GRCm39) S1001P probably damaging Het
Tbc1d8 T C 1: 39,415,985 (GRCm39) E896G probably benign Het
Ube2o T C 11: 116,432,389 (GRCm39) E859G probably damaging Het
Vmn1r197 A G 13: 22,512,073 (GRCm39) probably benign Het
Vmn2r58 A G 7: 41,486,765 (GRCm39) I710T possibly damaging Het
Zmynd8 T C 2: 165,662,492 (GRCm39) T533A possibly damaging Het
Other mutations in Rab11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1969:Rab11b UTSW 17 33,979,209 (GRCm39) missense probably damaging 1.00
R2096:Rab11b UTSW 17 33,967,976 (GRCm39) missense probably damaging 1.00
R2566:Rab11b UTSW 17 33,966,692 (GRCm39) missense probably benign 0.01
R3706:Rab11b UTSW 17 33,966,740 (GRCm39) missense probably benign
R4093:Rab11b UTSW 17 33,968,763 (GRCm39) missense possibly damaging 0.94
R5070:Rab11b UTSW 17 33,967,855 (GRCm39) missense probably damaging 1.00
R5218:Rab11b UTSW 17 33,967,924 (GRCm39) missense probably benign 0.03
R5306:Rab11b UTSW 17 33,979,243 (GRCm39) utr 5 prime probably benign
R7205:Rab11b UTSW 17 33,968,841 (GRCm39) missense probably damaging 1.00
R9702:Rab11b UTSW 17 33,968,026 (GRCm39) missense possibly damaging 0.79
Posted On 2015-04-16