Incidental Mutation 'R1034:Rab6b'
ID 95432
Institutional Source Beutler Lab
Gene Symbol Rab6b
Ensembl Gene ENSMUSG00000032549
Gene Name RAB6B, member RAS oncogene family
Synonyms D9Bwg0185e, C330006L04Rik
MMRRC Submission 039133-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1034 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 102988986-103062475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103044323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 172 (S172P)
Ref Sequence ENSEMBL: ENSMUSP00000035155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035155] [ENSMUST00000189134]
AlphaFold P61294
Predicted Effect probably benign
Transcript: ENSMUST00000035155
AA Change: S172P

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000035155
Gene: ENSMUSG00000032549
AA Change: S172P

RAB 14 177 5.19e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189134
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.3%
  • 10x: 92.9%
  • 20x: 82.2%
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Abca14 T C 7: 119,815,370 (GRCm39) F206S probably damaging Het
Arid2 T C 15: 96,267,386 (GRCm39) V622A probably benign Het
Asic1 T A 15: 99,595,939 (GRCm39) L437Q probably damaging Het
Atp1b1 C T 1: 164,281,057 (GRCm39) probably null Het
B3gnt5 A G 16: 19,588,234 (GRCm39) Y151C probably damaging Het
Cbx4 A G 11: 118,972,533 (GRCm39) S281P probably damaging Het
Dnah5 G A 15: 28,302,617 (GRCm39) V1625I probably damaging Het
Eftud2 A C 11: 102,740,010 (GRCm39) D461E probably benign Het
Epgn A G 5: 91,180,080 (GRCm39) Y74C probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fgf14 C T 14: 124,369,946 (GRCm39) V113I probably damaging Het
Ggcx G A 6: 72,391,814 (GRCm39) R68H probably damaging Het
Gm1110 A G 9: 26,832,646 (GRCm39) S16P probably damaging Het
Gm6729 T C 10: 86,375,890 (GRCm39) noncoding transcript Het
Gpr108 A G 17: 57,542,995 (GRCm39) F522S probably damaging Het
Gpr156 T C 16: 37,825,088 (GRCm39) V435A probably benign Het
Khdrbs2 T C 1: 32,506,872 (GRCm39) L172P probably damaging Het
Kmo C T 1: 175,479,184 (GRCm39) P240L possibly damaging Het
Ltn1 A T 16: 87,194,025 (GRCm39) probably null Het
Nbeal1 T A 1: 60,329,165 (GRCm39) Y2194* probably null Het
Or6c8 T A 10: 128,915,830 (GRCm39) M1L probably benign Het
Or7d11 A T 9: 19,966,661 (GRCm39) S33T probably benign Het
Ror1 T A 4: 100,190,817 (GRCm39) L58* probably null Het
Sec23b A G 2: 144,432,258 (GRCm39) D756G possibly damaging Het
Slc24a2 T A 4: 86,950,512 (GRCm39) K428N probably damaging Het
Spen C A 4: 141,203,063 (GRCm39) V1855L probably benign Het
Srgap1 G A 10: 121,621,350 (GRCm39) P1071S possibly damaging Het
Tns1 A G 1: 73,981,128 (GRCm39) C1079R probably damaging Het
Traf3ip1 G T 1: 91,446,041 (GRCm39) probably null Het
Trmt2a T C 16: 18,067,573 (GRCm39) F82S probably damaging Het
Xrn1 A G 9: 95,921,790 (GRCm39) D1401G probably damaging Het
Zfp352 T A 4: 90,112,393 (GRCm39) S178T possibly damaging Het
Zfp758 G T 17: 22,594,740 (GRCm39) E409* probably null 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
R1084:Rab6b UTSW 9 103,039,834 (GRCm39) missense probably damaging 1.00
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

Sequencing Primer
Posted On 2014-01-05