Incidental Mutation 'R3706:Rab11b'
ID 271789
Institutional Source Beutler Lab
Gene Symbol Rab11b
Ensembl Gene ENSMUSG00000077450
Gene Name RAB11B, member RAS oncogene family
Synonyms A730055L17Rik
MMRRC Submission 040699-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3706 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 33961458-33979460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 33966740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Aspartic acid at position 162 (H162D)
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: H187D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110021
Gene: ENSMUSG00000077450
AA Change: H187D

DomainStartEndE-ValueType
RAB 12 175 3.76e-115 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172894
SMART Domains Protein: ENSMUSP00000134544
Gene: ENSMUSG00000077450

DomainStartEndE-ValueType
RAB 2 118 3.53e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173860
AA Change: H162D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134448
Gene: ENSMUSG00000077450
AA Change: H162D

DomainStartEndE-ValueType
RAB 12 150 3.17e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173987
SMART Domains Protein: ENSMUSP00000133921
Gene: ENSMUSG00000077450

DomainStartEndE-ValueType
RAB 12 149 2.81e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174744
Meta Mutation Damage Score 0.0602 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 G A 12: 112,740,085 (GRCm39) P523L possibly damaging Het
Ampd1 A G 3: 102,995,627 (GRCm39) probably benign Het
Anxa10 T A 8: 62,517,321 (GRCm39) K167M probably damaging Het
Atp8b2 A T 3: 89,852,459 (GRCm39) F866I probably damaging Het
Atxn2 T C 5: 121,923,931 (GRCm39) probably null Het
Card11 G A 5: 140,872,890 (GRCm39) R608C probably damaging Het
Cd4 T C 6: 124,856,351 (GRCm39) K47E probably benign Het
Cenpl G A 1: 160,905,985 (GRCm39) V120M probably damaging Het
Cfap69 G T 5: 5,663,843 (GRCm39) Y461* probably null Het
Cplane1 T C 15: 8,289,300 (GRCm39) S2917P unknown Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ddx24 A T 12: 103,383,675 (GRCm39) V592E probably damaging Het
Dmc1 G C 15: 79,446,782 (GRCm39) P264A probably damaging Het
Donson A G 16: 91,483,049 (GRCm39) probably benign Het
Elovl5 C A 9: 77,887,119 (GRCm39) A170E probably null Het
Emilin1 A G 5: 31,075,166 (GRCm39) E469G possibly damaging Het
Fam178b A G 1: 36,647,529 (GRCm39) Y235H probably damaging Het
Fgfr2 T C 7: 129,800,161 (GRCm39) T358A probably benign Het
Fpgs A T 2: 32,578,008 (GRCm39) I138N probably damaging Het
Glb1l2 A G 9: 26,682,316 (GRCm39) probably benign Het
Hspa4l A T 3: 40,736,125 (GRCm39) N582I possibly damaging Het
Immt T C 6: 71,839,346 (GRCm39) M226T probably benign Het
Kif21b A G 1: 136,087,148 (GRCm39) N875S probably benign Het
Lama2 T C 10: 27,014,992 (GRCm39) D1572G probably damaging Het
Lelp1 A C 3: 92,042,714 (GRCm39) C112G unknown Het
Mctp2 A G 7: 71,863,859 (GRCm39) probably benign Het
Mettl2 T A 11: 105,030,552 (GRCm39) I376N probably benign Het
Mycbp2 A T 14: 103,393,850 (GRCm39) S2904T probably benign Het
Nwd1 A G 8: 73,393,744 (GRCm39) T377A possibly damaging Het
Or10q1 T A 19: 13,726,476 (GRCm39) L2Q probably benign Het
Or5b12b C T 19: 12,861,260 (GRCm39) T5I probably damaging Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Phip T C 9: 82,782,796 (GRCm39) E883G probably benign Het
Phox2b T C 5: 67,253,872 (GRCm39) probably benign Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Reln T C 5: 22,200,587 (GRCm39) probably benign Het
Sgo2b T C 8: 64,381,179 (GRCm39) E551G probably damaging Het
Sucla2 A G 14: 73,828,492 (GRCm39) K336R probably damaging Het
Zfx A G X: 93,142,413 (GRCm39) V36A possibly damaging Het
Zim1 T C 7: 6,680,290 (GRCm39) I458V 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
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
Predicted Primers PCR Primer
(F):5'- ACGCTGGGTCAAAGTGCAG -3'
(R):5'- CCCTACAGTGTGGTGGAGAATTG -3'

Sequencing Primer
(F):5'- ATTTCTGAGTTCGAGGCCAGCC -3'
(R):5'- TACTAGAAGCAGCTGGTCATGCC -3'
Posted On 2015-03-25