Incidental Mutation 'R1034:Rab6b'
ID 95432
Institutional Source Beutler Lab
Gene Symbol Rab6b
Ensembl Gene ENSMUSG00000032549
Gene Name RAB6B, member RAS oncogene family
Synonyms C330006L04Rik, D9Bwg0185e
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 103111787-103185276 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103167124 bp (GRCm38)
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

DomainStartEndE-ValueType
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: 76,876,283 T174M probably damaging Het
Abca14 T C 7: 120,216,147 F206S probably damaging Het
Arid2 T C 15: 96,369,505 V622A probably benign Het
Asic1 T A 15: 99,698,058 L437Q probably damaging Het
Atp1b1 C T 1: 164,453,488 probably null Het
B3gnt5 A G 16: 19,769,484 Y151C probably damaging Het
Cbx4 A G 11: 119,081,707 S281P probably damaging Het
Dnah5 G A 15: 28,302,471 V1625I probably damaging Het
Eftud2 A C 11: 102,849,184 D461E probably benign Het
Epgn A G 5: 91,032,221 Y74C probably damaging Het
Fcho1 C T 8: 71,712,560 A418T probably benign Het
Fgf14 C T 14: 124,132,534 V113I probably damaging Het
Ggcx G A 6: 72,414,831 R68H probably damaging Het
Gm1110 A G 9: 26,921,350 S16P probably damaging Het
Gm6729 T C 10: 86,540,026 noncoding transcript Het
Gpr108 A G 17: 57,235,995 F522S probably damaging Het
Gpr156 T C 16: 38,004,726 V435A probably benign Het
Khdrbs2 T C 1: 32,467,791 L172P probably damaging Het
Kmo C T 1: 175,651,618 P240L possibly damaging Het
Ltn1 A T 16: 87,397,137 probably null Het
Nbeal1 T A 1: 60,290,006 Y2194* probably null Het
Olfr767 T A 10: 129,079,961 M1L probably benign Het
Olfr867 A T 9: 20,055,365 S33T probably benign Het
Ror1 T A 4: 100,333,620 L58* probably null Het
Sec23b A G 2: 144,590,338 D756G possibly damaging Het
Slc24a2 T A 4: 87,032,275 K428N probably damaging Het
Spen C A 4: 141,475,752 V1855L probably benign Het
Srgap1 G A 10: 121,785,445 P1071S possibly damaging Het
Tns1 A G 1: 73,941,969 C1079R probably damaging Het
Traf3ip1 G T 1: 91,518,319 probably null Het
Trmt2a T C 16: 18,249,709 F82S probably damaging Het
Xrn1 A G 9: 96,039,737 D1401G probably damaging Het
Zfp352 T A 4: 90,224,156 S178T possibly damaging Het
Zfp758 G T 17: 22,375,759 E409* probably null Het
Other mutations in Rab6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Rab6b APN 9 103163895 missense probably benign 0.26
IGL01543:Rab6b APN 9 103162638 missense probably damaging 1.00
IGL02708:Rab6b APN 9 103160875 critical splice donor site probably null
R0139:Rab6b UTSW 9 103140377 splice site probably null
R1084:Rab6b UTSW 9 103162635 missense probably damaging 1.00
R3721:Rab6b UTSW 9 103167174 critical splice donor site probably null
R4591:Rab6b UTSW 9 103167174 critical splice donor site probably null
R5095:Rab6b UTSW 9 103140384 missense probably damaging 1.00
R5725:Rab6b UTSW 9 103163862 missense probably damaging 0.97
R8795:Rab6b UTSW 9 103162626 missense probably damaging 1.00
R9489:Rab6b UTSW 9 103140402 missense probably benign 0.03
R9605:Rab6b UTSW 9 103140402 missense probably benign 0.03
R9794:Rab6b UTSW 9 103163862 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TGAGTCGCTCCAGGACCAACATTG -3'
(R):5'- AGCCCATCTGGCTACTGAAAGAGG -3'

Sequencing Primer
(F):5'- CTCCAGGACCAACATTGAGAGG -3'
(R):5'- CTACTGAAAGAGGTGGCCC -3'
Posted On 2014-01-05