Incidental Mutation 'R1084:Rab6b'
ID 84960
Institutional Source Beutler Lab
Gene Symbol Rab6b
Ensembl Gene ENSMUSG00000032549
Gene Name RAB6B, member RAS oncogene family
Synonyms D9Bwg0185e, C330006L04Rik
MMRRC Submission 039170-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1084 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 102988986-103062475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103039834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 128 (T128M)
Ref Sequence ENSEMBL: ENSMUSP00000035155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035155] [ENSMUST00000189134]
AlphaFold P61294
Predicted Effect probably damaging
Transcript: ENSMUST00000035155
AA Change: T128M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035155
Gene: ENSMUSG00000032549
AA Change: T128M

DomainStartEndE-ValueType
RAB 14 177 5.19e-86 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000189134
AA Change: T74M

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.2906 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 100% (39/39)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in growth retardation and multiple behavioral and immunological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,790,004 (GRCm39) probably benign Het
Abcg4 C T 9: 44,188,766 (GRCm39) V476M probably benign Het
Arhgap9 A G 10: 127,163,797 (GRCm39) S478G probably damaging Het
Blvra A G 2: 126,922,573 (GRCm39) T3A probably benign Het
Crygb C T 1: 65,119,654 (GRCm39) D109N possibly damaging Het
Cyp3a59 A T 5: 146,033,484 (GRCm39) T207S probably benign Het
Cyp4b1 A G 4: 115,497,509 (GRCm39) V163A probably benign Het
Dmxl2 A T 9: 54,323,717 (GRCm39) S1222R probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Dnah5 G A 15: 28,343,598 (GRCm39) V2333I probably benign Het
Eral1 C T 11: 77,965,324 (GRCm39) V364M probably damaging Het
Fat4 T C 3: 39,033,974 (GRCm39) V2542A possibly damaging Het
Glcci1 C T 6: 8,573,221 (GRCm39) Q50* probably null Het
Heg1 A G 16: 33,527,367 (GRCm39) D109G probably benign Het
Lama1 C A 17: 68,111,464 (GRCm39) S2238R probably benign Het
Ltbp1 G A 17: 75,666,420 (GRCm39) W1053* probably null Het
Ly6f T C 15: 75,140,622 (GRCm39) L15P probably damaging Het
Mapk8 T A 14: 33,110,760 (GRCm39) K290* probably null Het
Mbd1 A G 18: 74,402,603 (GRCm39) Y35C probably damaging Het
Mcf2l T C 8: 13,052,645 (GRCm39) V503A possibly damaging Het
Morc2a A G 11: 3,600,454 (GRCm39) probably benign Het
Ms4a8a T A 19: 11,053,726 (GRCm39) I127F probably damaging Het
Myo1d T C 11: 80,575,221 (GRCm39) Y165C probably damaging Het
Ocel1 G T 8: 71,824,632 (GRCm39) probably null Het
Plekhh2 C T 17: 84,878,554 (GRCm39) T603M probably damaging Het
Scel G T 14: 103,802,279 (GRCm39) probably null Het
Sec23a A T 12: 59,031,921 (GRCm39) N436K probably damaging Het
Sec24a A G 11: 51,604,408 (GRCm39) L736P probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Sulf1 AAGGGA AAGGGAGGGA 1: 12,906,388 (GRCm39) probably null Het
Tex15 A G 8: 34,067,032 (GRCm39) E2154G probably benign Het
Tnrc18 A G 5: 142,750,522 (GRCm39) probably null Het
Tpr A G 1: 150,317,912 (GRCm39) Q2140R probably benign Het
Zfp142 T C 1: 74,610,985 (GRCm39) R834G probably benign Het
Zfp276 G A 8: 123,981,462 (GRCm39) R3Q probably damaging Het
Zscan4d A T 7: 10,898,932 (GRCm39) L115Q probably damaging Het
Other mutations in Rab6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Rab6b APN 9 103,041,094 (GRCm39) missense probably benign 0.26
IGL01543:Rab6b APN 9 103,039,837 (GRCm39) missense probably damaging 1.00
IGL02708:Rab6b APN 9 103,038,074 (GRCm39) critical splice donor site probably null
R0139:Rab6b UTSW 9 103,017,576 (GRCm39) splice site probably null
R1034:Rab6b UTSW 9 103,044,323 (GRCm39) missense probably benign 0.10
R3721:Rab6b UTSW 9 103,044,373 (GRCm39) critical splice donor site probably null
R4591:Rab6b UTSW 9 103,044,373 (GRCm39) critical splice donor site probably null
R5095:Rab6b UTSW 9 103,017,583 (GRCm39) missense probably damaging 1.00
R5725:Rab6b UTSW 9 103,041,061 (GRCm39) missense probably damaging 0.97
R8795:Rab6b UTSW 9 103,039,825 (GRCm39) missense probably damaging 1.00
R9489:Rab6b UTSW 9 103,017,601 (GRCm39) missense probably benign 0.03
R9605:Rab6b UTSW 9 103,017,601 (GRCm39) missense probably benign 0.03
R9794:Rab6b UTSW 9 103,041,061 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AGGAGGCCATCTTTCCTTCTGACC -3'
(R):5'- TGTCAACGCCAGGATTTCCCAG -3'

Sequencing Primer
(F):5'- TCCTTCTGACCCCTCCG -3'
(R):5'- CCTTTGCTGAGCTGAGGAAAATC -3'
Posted On 2013-11-18