Incidental Mutation 'IGL02473:Vps33a'
ID294833
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps33a
Ensembl Gene ENSMUSG00000029434
Gene NameVPS33A CORVET/HOPS core subunit
Synonyms3830421M04Rik, bf
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02473
Quality Score
Status
Chromosome5
Chromosomal Location123528659-123573038 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 123569571 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 111 (I111N)
Ref Sequence ENSEMBL: ENSMUSP00000031388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031388]
Predicted Effect probably damaging
Transcript: ENSMUST00000031388
AA Change: I111N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031388
Gene: ENSMUSG00000029434
AA Change: I111N

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
Pfam:Sec1 34 592 7.2e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198900
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 it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce hypopigmentation, an extended bleeeding time and abnormal kidney function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik G A 5: 48,388,098 probably benign Het
9030624G23Rik A G 12: 24,044,852 F106S probably benign Het
A930011G23Rik T C 5: 99,222,995 Y468C probably damaging Het
Abcd3 T C 3: 121,769,244 T515A possibly damaging Het
Acrbp A G 6: 125,054,698 T321A probably benign Het
Aldh2 T C 5: 121,572,078 Y398C probably damaging Het
Baz2b T A 2: 59,960,063 D602V probably benign Het
Ccdc105 A T 10: 78,750,594 S208T probably benign Het
Ccdc191 T C 16: 43,956,894 V714A probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntn2 A G 1: 132,518,331 L839P probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp3a16 T C 5: 145,440,494 I428V possibly damaging Het
Dnah7b A T 1: 46,234,193 T2494S probably damaging Het
Dnaja3 T A 16: 4,701,240 Y348* probably null Het
Dnajb3 C A 1: 88,205,382 E99D probably benign Het
Igf2bp3 A G 6: 49,094,229 F411L probably benign Het
L3mbtl4 A T 17: 68,559,777 Y337F possibly damaging Het
Lias A G 5: 65,405,402 T258A possibly damaging Het
Lipk T A 19: 34,039,148 C254S probably damaging Het
Map4k1 T C 7: 28,999,872 L596S probably damaging Het
Mdga2 T C 12: 66,550,611 E703G possibly damaging Het
Mreg A G 1: 72,162,336 Y166H probably damaging Het
Olfr1272 T C 2: 90,281,696 K293R probably null Het
Olfr38 A G 6: 42,762,706 Y218C probably damaging Het
Pcgf2 A G 11: 97,691,921 probably benign Het
Prdm15 T C 16: 97,837,605 probably null Het
Rnf111 A G 9: 70,440,858 V810A probably damaging Het
Rpl23a-ps1 A T 1: 45,981,791 noncoding transcript Het
Smc3 C A 19: 53,636,448 A779E probably benign Het
Smtn C T 11: 3,532,463 G140D probably damaging Het
Son T C 16: 91,658,795 S1477P probably damaging Het
Strn T C 17: 78,684,293 D20G possibly damaging Het
Tnxb T C 17: 34,717,762 L2798P probably damaging Het
Ttn A C 2: 76,945,552 N1715K probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan4d A T 7: 11,162,409 C345S probably benign Het
Other mutations in Vps33a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Vps33a APN 5 123572943 missense probably benign 0.00
IGL01459:Vps33a APN 5 123535308 missense probably benign 0.08
IGL02899:Vps33a APN 5 123531176 missense probably damaging 1.00
R0498:Vps33a UTSW 5 123570961 missense probably benign 0.40
R1134:Vps33a UTSW 5 123570912 missense probably damaging 0.97
R1928:Vps33a UTSW 5 123558621 missense probably benign 0.02
R2012:Vps33a UTSW 5 123531181 splice site probably null
R2926:Vps33a UTSW 5 123569571 missense possibly damaging 0.83
R3688:Vps33a UTSW 5 123535211 splice site probably null
R3872:Vps33a UTSW 5 123531192 missense probably benign 0.16
R4437:Vps33a UTSW 5 123531884 missense probably benign
R5153:Vps33a UTSW 5 123558628 missense probably damaging 1.00
R5396:Vps33a UTSW 5 123558630 missense probably damaging 0.98
R5686:Vps33a UTSW 5 123547001 critical splice donor site probably null
R5714:Vps33a UTSW 5 123569500 missense probably benign
R5814:Vps33a UTSW 5 123565056 missense probably damaging 1.00
R6845:Vps33a UTSW 5 123535272 missense probably benign 0.02
R7183:Vps33a UTSW 5 123535215 missense probably null 0.83
R7359:Vps33a UTSW 5 123558633 missense probably benign 0.00
R7593:Vps33a UTSW 5 123536556 missense probably benign 0.00
R7855:Vps33a UTSW 5 123570979 missense possibly damaging 0.78
R7885:Vps33a UTSW 5 123535249 missense possibly damaging 0.70
R8025:Vps33a UTSW 5 123558675 missense possibly damaging 0.76
R8139:Vps33a UTSW 5 123533952 missense probably benign 0.04
R8275:Vps33a UTSW 5 123569459 missense probably damaging 0.99
R8434:Vps33a UTSW 5 123533881 missense possibly damaging 0.74
R8845:Vps33a UTSW 5 123571475 critical splice donor site probably null
R8879:Vps33a UTSW 5 123533899 missense probably damaging 1.00
R8880:Vps33a UTSW 5 123569443 missense probably damaging 0.98
X0026:Vps33a UTSW 5 123547097 missense possibly damaging 0.81
Posted On2015-04-16