Incidental Mutation 'R5218:Rab11b'
ID 403627
Institutional Source Beutler Lab
Gene Symbol Rab11b
Ensembl Gene ENSMUSG00000077450
Gene Name RAB11B, member RAS oncogene family
Synonyms A730055L17Rik
MMRRC Submission 042791-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5218 (G1)
Quality Score 208
Status Validated
Chromosome 17
Chromosomal Location 33961458-33979460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33967924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 91 (N91S)
Ref Sequence ENSEMBL: ENSMUSP00000134448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057373] [ENSMUST00000173860] [ENSMUST00000173987]
AlphaFold P46638
Predicted Effect probably benign
Transcript: ENSMUST00000057373
AA Change: N116S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000110021
Gene: ENSMUSG00000077450
AA Change: N116S

DomainStartEndE-ValueType
RAB 12 175 3.76e-115 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172894
AA Change: N58S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134544
Gene: ENSMUSG00000077450
AA Change: N58S

DomainStartEndE-ValueType
RAB 2 118 3.53e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173860
AA Change: N91S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000134448
Gene: ENSMUSG00000077450
AA Change: N91S

DomainStartEndE-ValueType
RAB 12 150 3.17e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173987
AA Change: N116S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000133921
Gene: ENSMUSG00000077450
AA Change: N116S

DomainStartEndE-ValueType
RAB 12 149 2.81e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174744
Meta Mutation Damage Score 0.2132 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (60/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,629,628 (GRCm39) N230K possibly damaging Het
4933428M09Rik G T X: 138,080,282 (GRCm39) G16* probably null Het
Albfm1 A G 5: 90,729,777 (GRCm39) K400R probably benign Het
Amigo1 A G 3: 108,095,086 (GRCm39) probably null Het
Arhgap30 A T 1: 171,236,328 (GRCm39) T901S probably benign Het
Arpp21 T C 9: 111,972,499 (GRCm39) D264G probably damaging Het
Ccbe1 C T 18: 66,216,229 (GRCm39) G165S probably damaging Het
Celsr1 T C 15: 85,816,585 (GRCm39) D1786G probably damaging Het
Cntn1 T C 15: 92,237,430 (GRCm39) L1008P unknown Het
Dclk2 T A 3: 86,712,985 (GRCm39) D489V probably damaging Het
Dip2b T A 15: 100,052,177 (GRCm39) D259E probably benign Het
Disp3 T C 4: 148,327,333 (GRCm39) S1184G possibly damaging Het
Dync1li2 C T 8: 105,169,179 (GRCm39) W36* probably null Het
Ece2 A T 16: 20,437,290 (GRCm39) M211L probably benign Het
Edn3 C T 2: 174,603,345 (GRCm39) A31V probably benign Het
Enpp2 T C 15: 54,750,982 (GRCm39) Q266R possibly damaging Het
Fabp1 C A 6: 71,176,944 (GRCm39) Q12K probably damaging Het
Flt1 G A 5: 147,618,738 (GRCm39) T199M probably damaging Het
Galns T A 8: 123,325,328 (GRCm39) I275F probably damaging Het
Gapvd1 T C 2: 34,618,488 (GRCm39) D295G probably benign Het
Gatb A G 3: 85,511,751 (GRCm39) I169V probably benign Het
Gpd1 T A 15: 99,618,011 (GRCm39) I109N probably damaging Het
Gps2 T C 11: 69,807,121 (GRCm39) probably null Het
Hsd17b12 T C 2: 93,913,608 (GRCm39) N99D probably benign Het
Itga3 A T 11: 94,953,574 (GRCm39) V256E probably benign Het
Kcnma1 T A 14: 23,513,253 (GRCm39) Y527F probably damaging Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lrp1 C A 10: 127,384,488 (GRCm39) E3580D probably damaging Het
Ltbp4 AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC AATTCAGGCCTAGGCTGGGATTCAGGC 7: 27,026,736 (GRCm39) probably benign Het
Medag A T 5: 149,345,719 (GRCm39) probably benign Het
Ncdn C A 4: 126,644,603 (GRCm39) R73L probably benign Het
Nr4a1 T C 15: 101,170,034 (GRCm39) V339A probably benign Het
Ocln G T 13: 100,642,822 (GRCm39) P420Q probably damaging Het
Or5ac24 A T 16: 59,165,270 (GRCm39) S265T probably benign Het
Pank4 C T 4: 155,064,185 (GRCm39) T681I probably benign Het
Pcdhb6 T A 18: 37,467,388 (GRCm39) V103E possibly damaging Het
Pcsk6 T C 7: 65,675,036 (GRCm39) F469S probably benign Het
Phrf1 A G 7: 140,841,214 (GRCm39) N1353S possibly damaging Het
Pou6f2 A G 13: 18,326,586 (GRCm39) I72T probably damaging Het
Ppig T C 2: 69,563,127 (GRCm39) probably benign Het
Ptprh T C 7: 4,600,919 (GRCm39) S153G probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Slc2a9 A G 5: 38,610,524 (GRCm39) S92P probably damaging Het
Slit3 G A 11: 35,575,002 (GRCm39) probably null Het
Sox5 T C 6: 143,906,616 (GRCm39) I280V possibly damaging Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tdrd9 C T 12: 112,029,909 (GRCm39) probably benign Het
Tmem273 T A 14: 32,538,793 (GRCm39) probably null Het
Tmem74 A T 15: 43,730,640 (GRCm39) N134K possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl1 T G 18: 63,812,538 (GRCm39) K85N probably benign Het
Vmn2r77 T A 7: 86,451,341 (GRCm39) M409K probably damaging Het
Wipf1 T C 2: 73,274,812 (GRCm39) D53G probably damaging Het
Wnt10a G A 1: 74,832,754 (GRCm39) V116I probably benign Het
Xpot T A 10: 121,455,043 (GRCm39) D33V probably damaging Het
Znrf3 C T 11: 5,231,519 (GRCm39) V665M possibly 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
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
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'- ATGAGCCTTGACACTGGAGG -3'
(R):5'- TCAAAGATAGGACGACTGCCCC -3'

Sequencing Primer
(F):5'- CCTTGACACTGGAGGAGGTG -3'
(R):5'- CCATCCTGTAGGGTTTCCATGAG -3'
Posted On 2016-07-22