Incidental Mutation 'IGL02756:Rab33b'
ID 306437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab33b
Ensembl Gene ENSMUSG00000027739
Gene Name RAB33B, member RAS oncogene family
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # IGL02756
Quality Score
Status
Chromosome 3
Chromosomal Location 51391387-51403649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51391945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 65 (T65S)
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: T65S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063054
Gene: ENSMUSG00000027739
AA Change: T65S

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: T65S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142215
Gene: ENSMUSG00000027739
AA Change: T65S

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
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,000,970 (GRCm39) D54V probably damaging Het
Adamts18 C A 8: 114,440,976 (GRCm39) probably benign Het
Angptl3 T A 4: 98,919,399 (GRCm39) L53Q probably damaging Het
Apc A G 18: 34,447,588 (GRCm39) T1461A probably damaging Het
Arl11 T A 14: 61,548,535 (GRCm39) V115D probably damaging Het
Cabp4 C A 19: 4,188,560 (GRCm39) V173L possibly damaging Het
Casq1 T A 1: 172,042,672 (GRCm39) D230V probably damaging Het
Cdc42bpa A G 1: 179,936,824 (GRCm39) I821V possibly damaging Het
Cfap65 T C 1: 74,944,239 (GRCm39) Y1494C probably benign Het
Chd1 T A 17: 15,951,069 (GRCm39) S215T probably damaging Het
Csf2rb2 T C 15: 78,169,049 (GRCm39) E593G possibly damaging Het
Cstf1 A G 2: 172,217,795 (GRCm39) D136G probably damaging Het
Ddx19b T C 8: 111,737,910 (GRCm39) probably benign Het
Dido1 A T 2: 180,303,716 (GRCm39) L1396Q probably benign Het
Ermn A G 2: 57,937,824 (GRCm39) I263T probably damaging Het
F12 T A 13: 55,568,880 (GRCm39) Q294L possibly damaging Het
Far2 A T 6: 148,058,889 (GRCm39) I192F probably damaging Het
Fshb T A 2: 106,889,218 (GRCm39) I29F probably damaging Het
Gcgr T A 11: 120,427,811 (GRCm39) Y251N probably benign Het
Gpr158 A G 2: 21,831,890 (GRCm39) I997V possibly damaging Het
Gprc5d A G 6: 135,093,613 (GRCm39) V98A probably damaging Het
H2-T23 T C 17: 36,342,580 (GRCm39) E186G probably damaging Het
Khdrbs3 C T 15: 68,896,685 (GRCm39) T115I probably benign Het
Kifap3 C T 1: 163,689,597 (GRCm39) T527M probably damaging Het
Mfsd2a C T 4: 122,842,332 (GRCm39) A512T probably benign Het
Mmp9 A G 2: 164,791,235 (GRCm39) D135G probably benign Het
Mylk T C 16: 34,784,016 (GRCm39) V1394A probably benign Het
Nek9 A C 12: 85,358,110 (GRCm39) probably null Het
Or51q1c T C 7: 103,652,866 (GRCm39) I128T probably damaging Het
Or8k16 T C 2: 85,520,402 (GRCm39) S210P probably damaging Het
P2rx2 T A 5: 110,490,276 (GRCm39) probably benign Het
P4htm A G 9: 108,456,977 (GRCm39) L410P probably damaging Het
Pik3c2a A T 7: 115,963,748 (GRCm39) W921R probably benign Het
Pnisr T C 4: 21,862,175 (GRCm39) F288L probably benign Het
Ppp4r3a C T 12: 101,024,582 (GRCm39) probably null Het
Prss34 T C 17: 25,518,251 (GRCm39) S144P probably damaging Het
Qrsl1 T C 10: 43,758,110 (GRCm39) T328A probably benign Het
Rdh8 A G 9: 20,736,637 (GRCm39) S235G possibly damaging Het
Rrp12 T C 19: 41,884,500 (GRCm39) K6R probably benign Het
Sec24a T C 11: 51,587,560 (GRCm39) D1025G probably benign Het
Sgo2a T G 1: 58,055,509 (GRCm39) N564K probably damaging Het
Slc43a3 A T 2: 84,774,612 (GRCm39) M130L probably benign Het
Soat1 T C 1: 156,274,145 (GRCm39) I89V probably benign Het
St3gal5 A G 6: 72,126,157 (GRCm39) D307G probably null Het
Stxbp3-ps C T 19: 9,535,193 (GRCm39) noncoding transcript Het
Tacr2 A G 10: 62,097,469 (GRCm39) probably benign Het
Tg C T 15: 66,606,435 (GRCm39) T193I probably benign Het
Tnik A G 3: 28,596,179 (GRCm39) T191A probably damaging Het
Trim27 T C 13: 21,374,256 (GRCm39) probably benign Het
Usf2 A T 7: 30,646,417 (GRCm39) C134* probably null Het
Usp14 A G 18: 10,001,769 (GRCm39) probably null Het
Usp47 T C 7: 111,692,270 (GRCm39) S911P possibly damaging Het
Vmn1r73 T A 7: 11,490,574 (GRCm39) S131T possibly damaging Het
Vmn2r80 T C 10: 79,030,145 (GRCm39) I657T probably damaging Het
Zfp935 A T 13: 62,602,701 (GRCm39) C166* probably null Het
Other mutations in Rab33b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16