Incidental Mutation 'R5650:Rab33b'
ID 441351
Institutional Source Beutler Lab
Gene Symbol Rab33b
Ensembl Gene ENSMUSG00000027739
Gene Name RAB33B, member RAS oncogene family
Synonyms
MMRRC Submission 043296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R5650 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 51391387-51403649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51400837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 104 (Y104H)
Ref Sequence ENSEMBL: ENSMUSP00000063054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054387]
AlphaFold O35963
PDB Structure GppNHp-Bound Rab33 GTPase [X-RAY DIFFRACTION]
Crystal Structure of Gyp1 TBC domain in complex with Rab33 GTPase bound to GDP and AlF3 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000054387
AA Change: Y104H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063054
Gene: ENSMUSG00000027739
AA Change: Y104H

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
RAB 34 202 1.94e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195715
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,597,253 (GRCm39) L693P probably damaging Het
Ankrd11 T C 8: 123,614,136 (GRCm39) T2524A probably damaging Het
Cdr2 A G 7: 120,557,559 (GRCm39) I322T probably damaging Het
Cep76 A T 18: 67,758,136 (GRCm39) C385S probably damaging Het
Cercam C T 2: 29,771,827 (GRCm39) S549F probably damaging Het
Coro1b C T 19: 4,200,610 (GRCm39) T209I possibly damaging Het
Dlec1 G T 9: 118,972,662 (GRCm39) E1462* probably null Het
Dlgap5 C T 14: 47,649,196 (GRCm39) G166D probably benign Het
Ep400 C T 5: 110,843,818 (GRCm39) probably null Het
Fam3d A T 14: 8,357,142 (GRCm38) V96E probably damaging Het
Fgr T G 4: 132,727,533 (GRCm39) V478G probably benign Het
Fmo9 T A 1: 166,491,015 (GRCm39) I437F probably damaging Het
Gabrd A T 4: 155,473,081 (GRCm39) V64E probably damaging Het
Gsap A G 5: 21,456,051 (GRCm39) Y385C probably damaging Het
H4c4 A T 13: 23,765,778 (GRCm39) N65I possibly damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Helz T A 11: 107,485,972 (GRCm39) M127K probably null Het
Hsp90b1 G A 10: 86,529,367 (GRCm39) A310V probably damaging Het
Hspa4 T C 11: 53,155,919 (GRCm39) Y662C probably damaging Het
Kif7 C T 7: 79,360,727 (GRCm39) R216H probably damaging Het
Klhl33 A G 14: 51,129,285 (GRCm39) I648T probably benign Het
Knl1 T A 2: 118,912,031 (GRCm39) L1716* probably null Het
Lgals9 T A 11: 78,863,980 (GRCm39) N55I probably damaging Het
Lmo7 A T 14: 102,136,110 (GRCm39) T606S probably damaging Het
Mdn1 A G 4: 32,667,467 (GRCm39) probably null Het
Mip A T 10: 128,061,934 (GRCm39) I62F possibly damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Npepl1 T C 2: 173,963,329 (GRCm39) F454L possibly damaging Het
Or10h28 A T 17: 33,487,858 (GRCm39) E53D probably benign Het
Or1j21 T A 2: 36,683,277 (GRCm39) S10T probably benign Het
Or5ae1 T A 7: 84,565,626 (GRCm39) I213N possibly damaging Het
Or8b1b A T 9: 38,376,023 (GRCm39) K229* probably null Het
Oxct1 T A 15: 4,172,332 (GRCm39) V466D probably damaging Het
Piezo2 T A 18: 63,144,792 (GRCm39) I2768F probably damaging Het
Pitpnm1 C A 19: 4,153,319 (GRCm39) D158E possibly damaging Het
Plekho2 T C 9: 65,464,018 (GRCm39) N277S probably benign Het
Rpap1 T C 2: 119,604,331 (GRCm39) S473G probably benign Het
Serpina1b T A 12: 103,694,694 (GRCm39) probably null Het
Slc25a17 A T 15: 81,213,377 (GRCm39) probably null Het
Slc43a2 T C 11: 75,436,633 (GRCm39) C160R probably damaging Het
Slc7a4 G T 16: 17,393,548 (GRCm39) L84M possibly damaging Het
Slco1a4 T A 6: 141,755,120 (GRCm39) I561F possibly damaging Het
Sowahc GGGAGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGA 10: 59,059,313 (GRCm39) probably benign Het
Specc1 T C 11: 62,008,793 (GRCm39) I183T probably damaging Het
Sucla2 A G 14: 73,828,569 (GRCm39) K362E probably benign Het
Tcf12 A T 9: 71,792,584 (GRCm39) probably null Het
Tlr11 C T 14: 50,598,658 (GRCm39) P215S probably benign Het
Tmem41b A G 7: 109,574,072 (GRCm39) S198P probably damaging Het
Tubgcp3 A G 8: 12,698,670 (GRCm39) F427S probably damaging Het
Wdr81 T A 11: 75,335,574 (GRCm39) S1752C probably damaging Het
Zbtb7a A G 10: 80,980,883 (GRCm39) Y359C probably damaging Het
Zfp37 T C 4: 62,110,002 (GRCm39) Y354C probably damaging Het
Zmpste24 T A 4: 120,940,074 (GRCm39) I191F possibly damaging Het
Other mutations in Rab33b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02756:Rab33b APN 3 51,391,945 (GRCm39) missense probably damaging 1.00
R0012:Rab33b UTSW 3 51,391,737 (GRCm39) start gained probably benign
R0690:Rab33b UTSW 3 51,400,838 (GRCm39) missense probably damaging 1.00
R1027:Rab33b UTSW 3 51,391,876 (GRCm39) missense probably damaging 1.00
R3151:Rab33b UTSW 3 51,401,069 (GRCm39) missense possibly damaging 0.83
R5259:Rab33b UTSW 3 51,392,033 (GRCm39) unclassified probably benign
R5387:Rab33b UTSW 3 51,400,876 (GRCm39) missense probably damaging 1.00
R5997:Rab33b UTSW 3 51,391,900 (GRCm39) missense possibly damaging 0.80
R6318:Rab33b UTSW 3 51,400,826 (GRCm39) missense probably damaging 0.99
R6640:Rab33b UTSW 3 51,391,900 (GRCm39) missense possibly damaging 0.80
R8443:Rab33b UTSW 3 51,401,050 (GRCm39) missense probably damaging 1.00
R8493:Rab33b UTSW 3 51,391,795 (GRCm39) missense probably benign 0.18
R9315:Rab33b UTSW 3 51,401,000 (GRCm39) missense probably damaging 0.97
Z1177:Rab33b UTSW 3 51,391,755 (GRCm39) start codon destroyed probably null 0.01
Predicted Primers PCR Primer
(F):5'- CTAGGATTATGAAGCGTGGACC -3'
(R):5'- GTGTGTCAGCAAACTTCTGTG -3'

Sequencing Primer
(F):5'- TTATGAAGCGTGGACCCTGCAG -3'
(R):5'- AGCAAACTTCTGTGCCAAGTCTG -3'
Posted On 2016-11-08