Incidental Mutation 'R4093:Rab11b'
ID 317768
Institutional Source Beutler Lab
Gene Symbol Rab11b
Ensembl Gene ENSMUSG00000077450
Gene Name RAB11B, member RAS oncogene family
Synonyms A730055L17Rik
MMRRC Submission 041627-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4093 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 33961458-33979460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33968763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 77 (T77A)
Ref Sequence ENSEMBL: ENSMUSP00000133921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057373] [ENSMUST00000173860] [ENSMUST00000173987]
AlphaFold P46638
Predicted Effect possibly damaging
Transcript: ENSMUST00000057373
AA Change: T77A

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110021
Gene: ENSMUSG00000077450
AA Change: T77A

DomainStartEndE-ValueType
RAB 12 175 3.76e-115 SMART
Predicted Effect unknown
Transcript: ENSMUST00000172894
AA Change: T19A
SMART Domains Protein: ENSMUSP00000134544
Gene: ENSMUSG00000077450
AA Change: T19A

DomainStartEndE-ValueType
RAB 2 118 3.53e-56 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173860
AA Change: T52A

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134448
Gene: ENSMUSG00000077450
AA Change: T52A

DomainStartEndE-ValueType
RAB 12 150 3.17e-81 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173987
AA Change: T77A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133921
Gene: ENSMUSG00000077450
AA Change: T77A

DomainStartEndE-ValueType
RAB 12 149 2.81e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174744
Meta Mutation Damage Score 0.6355 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 92% (69/75)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,093,996 (GRCm39) M2173V probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Angpt1 T C 15: 42,386,941 (GRCm39) T138A probably damaging Het
Atp2c2 G A 8: 120,476,610 (GRCm39) probably null Het
Cadm2 A G 16: 66,581,675 (GRCm39) V210A possibly damaging Het
Cfap70 A T 14: 20,459,181 (GRCm39) D671E probably damaging Het
Chd2 C T 7: 73,150,764 (GRCm39) E322K possibly damaging Het
Chrnd C T 1: 87,118,729 (GRCm39) Q29* probably null Het
Cip2a T C 16: 48,821,339 (GRCm39) probably benign Het
Cym A G 3: 107,121,582 (GRCm39) S237P probably benign Het
D030068K23Rik A G 8: 109,978,091 (GRCm39) noncoding transcript Het
Gsdma2 T A 11: 98,541,677 (GRCm39) S135T probably benign Het
Hc A T 2: 34,873,819 (GRCm39) Y158* probably null Het
Hoxb3 C A 11: 96,236,926 (GRCm39) H335N probably damaging Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Ighv1-19 G A 12: 114,672,350 (GRCm39) T90I probably damaging Het
Kansl3 C A 1: 36,384,035 (GRCm39) S729I probably damaging Het
Kcnab1 T C 3: 65,207,035 (GRCm39) I137T possibly damaging Het
Kcnt1 A T 2: 25,767,927 (GRCm39) E12V probably damaging Het
Klk15 A T 7: 43,588,204 (GRCm39) S171C possibly damaging Het
Lcn2 A T 2: 32,277,728 (GRCm39) M1K probably null Het
Lrig1 T C 6: 94,590,559 (GRCm39) D487G probably benign Het
Lrp8 T A 4: 107,700,468 (GRCm39) C135* probably null Het
Lrrc31 C A 3: 30,749,671 (GRCm39) S54I probably damaging Het
Ltbp4 A G 7: 27,024,641 (GRCm39) V663A possibly damaging Het
Med27 G A 2: 29,267,920 (GRCm39) probably benign Het
Mical1 T C 10: 41,362,933 (GRCm39) probably benign Het
Myt1 A T 2: 181,453,191 (GRCm39) M799L probably damaging Het
Nlrc4 T C 17: 74,752,953 (GRCm39) M477V probably benign Het
Npy4r T C 14: 33,869,098 (GRCm39) I63M probably benign Het
Or2t43 A T 11: 58,457,655 (GRCm39) I172N probably damaging Het
Or52e15 C T 7: 104,645,842 (GRCm39) G90S probably benign Het
Or8b1b T A 9: 38,375,379 (GRCm39) L14Q probably null Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Piezo1 A C 8: 123,227,899 (GRCm39) probably null Het
Ppp1r12c T C 7: 4,486,366 (GRCm39) E601G probably damaging Het
Proser1 T C 3: 53,387,133 (GRCm39) probably null Het
Psme2 A T 14: 55,825,734 (GRCm39) N143K probably benign Het
Pygo2 C A 3: 89,340,571 (GRCm39) P323Q probably damaging Het
Recql5 A G 11: 115,795,714 (GRCm39) S190P probably benign Het
Serpina12 A G 12: 104,004,183 (GRCm39) F150L probably damaging Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc22a2 C T 17: 12,831,281 (GRCm39) T357M probably damaging Het
Spag6l A C 16: 16,646,888 (GRCm39) N39K probably benign Het
Srl A G 16: 4,315,316 (GRCm39) S109P possibly damaging Het
Tagap A T 17: 8,148,255 (GRCm39) H152L probably damaging Het
Tbx3 T A 5: 119,818,813 (GRCm39) S463T probably benign Het
Tcaf2 A G 6: 42,619,772 (GRCm39) L85P probably damaging Het
Tenm4 A T 7: 96,544,979 (GRCm39) S2332C probably damaging Het
Trim60 A T 8: 65,454,030 (GRCm39) M73K probably benign Het
Trpc1 T C 9: 95,588,918 (GRCm39) T769A probably benign Het
Tubgcp4 T A 2: 121,025,958 (GRCm39) L601Q probably benign Het
Unc5d T C 8: 29,334,865 (GRCm39) Y154C possibly damaging Het
Vmn1r185 A T 7: 26,311,208 (GRCm39) V99E probably damaging Het
Vmn1r57 G T 7: 5,223,856 (GRCm39) S127I possibly damaging Het
Vmn1r62 T A 7: 5,678,943 (GRCm39) M208K probably damaging Het
Vmn2r110 T C 17: 20,803,642 (GRCm39) D311G possibly damaging Het
Vmn2r48 C A 7: 9,676,185 (GRCm39) S432I probably benign Het
Vmn2r48 T A 7: 9,676,186 (GRCm39) S432C probably damaging Het
Vmn2r71 T C 7: 85,270,442 (GRCm39) V536A probably benign Het
Vstm2a A G 11: 16,209,884 (GRCm39) T37A probably damaging Het
Wfs1 T C 5: 37,124,809 (GRCm39) H694R probably damaging Het
Zdbf2 T C 1: 63,348,940 (GRCm39) S2440P possibly damaging Het
Zfp61 A G 7: 23,990,700 (GRCm39) probably null Het
Zfp64 T C 2: 168,767,855 (GRCm39) T586A probably benign Het
Zfp943 T A 17: 22,211,963 (GRCm39) C350S probably damaging Het
Other mutations in Rab11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02317:Rab11b APN 17 33,968,790 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACAGCCAGGTTGCGCAATAG -3'
(R):5'- GAAACATTGGTTGCTGCCGG -3'

Sequencing Primer
(F):5'- CAATAGGCTGGATATTGGTCTGCC -3'
(R):5'- GTTGCTGCCGGATCCTCAC -3'
Posted On 2015-05-15