Incidental Mutation 'R1027:Rab33b'
ID 96832
Institutional Source Beutler Lab
Gene Symbol Rab33b
Ensembl Gene ENSMUSG00000027739
Gene Name RAB33B, member RAS oncogene family
Synonyms
MMRRC Submission 039129-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R1027 (G1)
Quality Score 113
Status Validated
Chromosome 3
Chromosomal Location 51391387-51403649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51391876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 42 (S42P)
Ref Sequence ENSEMBL: ENSMUSP00000142215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054387] [ENSMUST00000192172]
AlphaFold O35963
Predicted Effect probably damaging
Transcript: ENSMUST00000054387
AA Change: S42P

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000063054
Gene: ENSMUSG00000027739
AA Change: S42P

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
RAB 34 202 1.94e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000192172
AA Change: S42P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142215
Gene: ENSMUSG00000027739
AA Change: S42P

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
Pfam:Ras 35 65 7.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195715
Meta Mutation Damage Score 0.7905 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 89.0%
Validation Efficiency 94% (31/33)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 G T 17: 33,762,737 (GRCm39) R572L probably benign Het
Adamts16 A T 13: 70,915,921 (GRCm39) V838E probably damaging Het
Arfgef3 T C 10: 18,467,123 (GRCm39) R2026G probably benign Het
Arl16 G A 11: 120,356,522 (GRCm39) A159V probably benign Het
Astn1 G T 1: 158,407,849 (GRCm39) R602L probably damaging Het
Dennd1b T C 1: 138,969,700 (GRCm39) V72A probably damaging Het
Filip1l A G 16: 57,390,051 (GRCm39) E213G probably benign Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gm4076 T C 13: 85,275,508 (GRCm39) noncoding transcript Het
Herc1 T C 9: 66,363,250 (GRCm39) V2691A probably benign Het
Hid1 A C 11: 115,246,251 (GRCm39) F340V probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kif16b T C 2: 142,696,458 (GRCm39) probably benign Het
Map9 A T 3: 82,284,401 (GRCm39) D325V probably damaging Het
Mtor A G 4: 148,624,456 (GRCm39) M2079V probably benign Het
Nop14 A G 5: 34,801,348 (GRCm39) S608P probably damaging Het
Or5p62 A T 7: 107,771,348 (GRCm39) V201D probably damaging Het
Pcm1 T C 8: 41,746,482 (GRCm39) probably benign Het
Pigs T C 11: 78,227,651 (GRCm39) S272P probably damaging Het
Plekhh1 T C 12: 79,101,256 (GRCm39) probably benign Het
Prkdc A G 16: 15,468,576 (GRCm39) D129G possibly damaging Het
Rnf214 C T 9: 45,811,187 (GRCm39) V159I probably benign Het
Sel1l3 A T 5: 53,302,820 (GRCm39) M683K possibly damaging Het
Sntb2 A G 8: 107,718,203 (GRCm39) K304E probably benign Het
Svep1 C A 4: 58,094,084 (GRCm39) S1518I possibly damaging Het
Tg T C 15: 66,544,258 (GRCm39) S76P possibly damaging Het
Ttn A G 2: 76,697,777 (GRCm39) probably benign Het
Zbtb12 CTTCAT CTTCATTCAT 17: 35,115,284 (GRCm39) probably null 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
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
R5650:Rab33b UTSW 3 51,400,837 (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'- ACGCATCTTTCCAGGTACACCG -3'
(R):5'- TGGAGGAACAATGCCTCAGAAGTTTG -3'

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