Incidental Mutation 'IGL02669:Vps33b'
ID 302876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps33b
Ensembl Gene ENSMUSG00000030534
Gene Name vacuolar protein sorting 33B
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02669
Quality Score
Status
Chromosome 7
Chromosomal Location 79919369-79941327 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 79925786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032749] [ENSMUST00000135053] [ENSMUST00000150585]
AlphaFold P59016
Predicted Effect probably benign
Transcript: ENSMUST00000032749
SMART Domains Protein: ENSMUSP00000032749
Gene: ENSMUSG00000030534

DomainStartEndE-ValueType
Pfam:Sec1 37 611 2.4e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128254
Predicted Effect probably benign
Transcript: ENSMUST00000135053
SMART Domains Protein: ENSMUSP00000138472
Gene: ENSMUSG00000030534

DomainStartEndE-ValueType
SCOP:d1epua_ 18 59 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145594
Predicted Effect probably benign
Transcript: ENSMUST00000150585
SMART Domains Protein: ENSMUSP00000138224
Gene: ENSMUSG00000030534

DomainStartEndE-ValueType
Pfam:Sec1 36 140 1.5e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a conditional allele activated by an inducible cre exhibit dry scaly skin, hair loss, thrombocytosis, abnormal alpha-granule development, extramedullary hematopoiesis, abnormal platelets and megakaryocytes, and defects in tail tendon collagen I structure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T A 16: 19,702,505 (GRCm39) noncoding transcript Het
Acap1 G A 11: 69,785,421 (GRCm39) probably benign Het
Adam7 T C 14: 68,745,343 (GRCm39) Y627C probably damaging Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Aoc1l2 A G 6: 48,908,407 (GRCm39) Y469C probably damaging Het
Bace2 T C 16: 97,238,093 (GRCm39) *515R probably null Het
Baiap3 C T 17: 25,463,322 (GRCm39) V958M probably damaging Het
Brms1l A T 12: 55,888,401 (GRCm39) D63V probably damaging Het
Cnksr1 A T 4: 133,957,774 (GRCm39) I435N probably damaging Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Cpne6 A G 14: 55,751,283 (GRCm39) N201S probably benign Het
Dnajc12 A G 10: 63,233,071 (GRCm39) S71G probably damaging Het
Dpp3 A T 19: 4,973,710 (GRCm39) probably null Het
E2f3 A G 13: 30,100,974 (GRCm39) S239P probably benign Het
Eif3e T A 15: 43,146,088 (GRCm39) M1L probably benign Het
Erap1 A G 13: 74,823,987 (GRCm39) T867A probably benign Het
Erlin1 G T 19: 44,027,658 (GRCm39) A260E probably damaging Het
Esrp1 A G 4: 11,386,324 (GRCm39) V38A possibly damaging Het
Foxn1 T C 11: 78,261,986 (GRCm39) R128G probably damaging Het
Gnb3 A G 6: 124,814,688 (GRCm39) L70P probably benign Het
Gon4l T C 3: 88,802,806 (GRCm39) V1139A probably damaging Het
Gpt2 G T 8: 86,249,908 (GRCm39) M463I probably benign Het
Gtpbp3 C A 8: 71,943,546 (GRCm39) A201D probably damaging Het
Jaml A C 9: 45,015,489 (GRCm39) K331T possibly damaging Het
Kntc1 G A 5: 123,893,727 (GRCm39) probably benign Het
Ksr2 A G 5: 117,693,446 (GRCm39) K298R probably damaging Het
Mfge8 T C 7: 78,795,429 (GRCm39) D46G probably benign Het
Ncam2 T A 16: 81,314,429 (GRCm39) N468K probably benign Het
Nup88 A G 11: 70,847,110 (GRCm39) M300T probably damaging Het
Or4c118 T A 2: 88,974,564 (GRCm39) K268* probably null Het
Or4k48 A T 2: 111,476,236 (GRCm39) Y35* probably null Het
Or52b4 A G 7: 102,184,868 (GRCm39) M305V probably benign Het
Prdm1 A T 10: 44,315,880 (GRCm39) M752K probably benign Het
Prl3b1 A T 13: 27,429,795 (GRCm39) M78L probably benign Het
Ralgps2 T C 1: 156,660,268 (GRCm39) E268G probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Slc4a5 A G 6: 83,240,525 (GRCm39) D279G possibly damaging Het
Tanc1 T A 2: 59,630,330 (GRCm39) I770K probably damaging Het
Tbl2 G A 5: 135,181,852 (GRCm39) R64H probably damaging Het
Tg T A 15: 66,620,575 (GRCm39) probably benign Het
Tmprss13 A T 9: 45,243,824 (GRCm39) I187F probably benign Het
Tubb3 T C 8: 124,147,856 (GRCm39) L263P probably damaging Het
Vmn2r109 T G 17: 20,774,518 (GRCm39) D279A possibly damaging Het
Yeats2 A G 16: 20,005,033 (GRCm39) S338G probably benign Het
Zfp142 T C 1: 74,610,432 (GRCm39) Q1121R probably benign Het
Zic1 G T 9: 91,246,486 (GRCm39) H195Q possibly damaging Het
Other mutations in Vps33b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Vps33b APN 7 79,935,591 (GRCm39) missense probably damaging 1.00
IGL01352:Vps33b APN 7 79,934,807 (GRCm39) splice site probably null
IGL01863:Vps33b APN 7 79,924,059 (GRCm39) critical splice donor site probably null
IGL01918:Vps33b APN 7 79,937,560 (GRCm39) splice site probably null
IGL02152:Vps33b APN 7 79,934,817 (GRCm39) missense probably benign 0.29
IGL02364:Vps33b APN 7 79,937,587 (GRCm39) missense probably damaging 1.00
IGL02383:Vps33b APN 7 79,935,082 (GRCm39) splice site probably null
IGL03104:Vps33b APN 7 79,925,831 (GRCm39) missense probably damaging 1.00
IGL03333:Vps33b APN 7 79,923,973 (GRCm39) splice site probably benign
PIT4651001:Vps33b UTSW 7 79,939,755 (GRCm39) missense probably damaging 0.99
R0267:Vps33b UTSW 7 79,935,802 (GRCm39) missense possibly damaging 0.87
R0379:Vps33b UTSW 7 79,933,162 (GRCm39) splice site probably null
R0971:Vps33b UTSW 7 79,937,647 (GRCm39) missense possibly damaging 0.75
R1184:Vps33b UTSW 7 79,932,234 (GRCm39) missense probably benign 0.02
R1639:Vps33b UTSW 7 79,934,101 (GRCm39) missense probably damaging 1.00
R1693:Vps33b UTSW 7 79,937,641 (GRCm39) missense probably damaging 1.00
R4502:Vps33b UTSW 7 79,937,655 (GRCm39) missense possibly damaging 0.94
R4609:Vps33b UTSW 7 79,940,866 (GRCm39) missense probably benign 0.00
R4748:Vps33b UTSW 7 79,939,796 (GRCm39) missense probably damaging 1.00
R5083:Vps33b UTSW 7 79,924,389 (GRCm39) missense probably damaging 0.99
R5304:Vps33b UTSW 7 79,924,001 (GRCm39) missense probably damaging 1.00
R5774:Vps33b UTSW 7 79,935,088 (GRCm39) missense probably benign 0.38
R5991:Vps33b UTSW 7 79,933,162 (GRCm39) splice site probably null
R7085:Vps33b UTSW 7 79,925,837 (GRCm39) missense probably benign 0.12
R7409:Vps33b UTSW 7 79,935,017 (GRCm39) missense probably damaging 0.97
R8025:Vps33b UTSW 7 79,940,094 (GRCm39) splice site probably benign
R8460:Vps33b UTSW 7 79,937,617 (GRCm39) missense probably benign 0.04
R8930:Vps33b UTSW 7 79,932,241 (GRCm39) missense possibly damaging 0.89
R8932:Vps33b UTSW 7 79,932,241 (GRCm39) missense possibly damaging 0.89
R9065:Vps33b UTSW 7 79,935,339 (GRCm39) missense probably damaging 0.99
R9110:Vps33b UTSW 7 79,939,743 (GRCm39) missense probably benign 0.04
R9165:Vps33b UTSW 7 79,924,434 (GRCm39) critical splice donor site probably null
X0018:Vps33b UTSW 7 79,940,313 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16