Incidental Mutation 'IGL02899:Vps33a'
ID 363504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps33a
Ensembl Gene ENSMUSG00000029434
Gene Name VPS33A CORVET/HOPS core subunit
Synonyms 3830421M04Rik, bf
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02899
Quality Score
Status
Chromosome 5
Chromosomal Location 123666820-123711104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123669239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 554 (G554D)
Ref Sequence ENSEMBL: ENSMUSP00000031388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031388]
AlphaFold Q9D2N9
Predicted Effect probably damaging
Transcript: ENSMUST00000031388
AA Change: G554D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031388
Gene: ENSMUSG00000029434
AA Change: G554D

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
Pfam:Sec1 34 592 7.2e-104 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 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
Arfgef2 A G 2: 166,710,971 (GRCm39) probably benign Het
Btbd7 A G 12: 102,803,921 (GRCm39) L373P probably damaging Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc186 A T 19: 56,781,920 (GRCm39) I753N probably benign Het
Ccser2 G A 14: 36,662,716 (GRCm39) T156I probably benign Het
Celsr1 A G 15: 85,915,927 (GRCm39) M682T probably damaging Het
Cep97 C A 16: 55,738,903 (GRCm39) S267I probably damaging Het
Dhx35 A G 2: 158,643,370 (GRCm39) Y39C probably damaging Het
Dscam A T 16: 96,510,447 (GRCm39) D937E probably damaging Het
Elmod2 A G 8: 84,043,562 (GRCm39) Y202H probably damaging Het
Fyco1 T C 9: 123,659,396 (GRCm39) N260S possibly damaging Het
Gm5591 A G 7: 38,218,842 (GRCm39) L677P probably damaging Het
Gmppa A G 1: 75,418,474 (GRCm39) probably null Het
Hltf C T 3: 20,153,981 (GRCm39) T639I probably damaging Het
Inhca C A 9: 103,154,773 (GRCm39) V173L probably damaging Het
Kpnb1 T C 11: 97,066,612 (GRCm39) Y321C probably damaging Het
Lgr4 G A 2: 109,748,598 (GRCm39) G45R probably damaging Het
Ltn1 T C 16: 87,179,547 (GRCm39) D1538G probably benign Het
Maf1 T A 15: 76,237,220 (GRCm39) probably benign Het
Morn5 T C 2: 35,945,049 (GRCm39) F91S probably damaging Het
Ncan C T 8: 70,567,698 (GRCm39) R138H possibly damaging Het
Or10ak7 A T 4: 118,791,859 (GRCm39) M62K probably damaging Het
Or5ac21 G T 16: 59,123,649 (GRCm39) L44F probably damaging Het
Parg T C 14: 31,960,531 (GRCm39) L82S probably damaging Het
Ppp2r2b A T 18: 42,778,874 (GRCm39) H417Q probably damaging Het
Rb1cc1 T C 1: 6,334,807 (GRCm39) L98P probably damaging Het
Ryr1 C A 7: 28,748,220 (GRCm39) V3752L possibly damaging Het
Slc25a12 A G 2: 71,109,979 (GRCm39) L489P probably damaging Het
Slc38a8 C T 8: 120,212,282 (GRCm39) V354M probably benign Het
Slf2 A G 19: 44,930,459 (GRCm39) E512G probably benign Het
Tarbp1 A G 8: 127,180,583 (GRCm39) M597T probably damaging Het
Tgfb3 G A 12: 86,116,550 (GRCm39) R163C probably damaging Het
Tmco5b A G 2: 113,127,265 (GRCm39) M279V probably benign Het
Ttll9 G A 2: 152,844,871 (GRCm39) G413D probably damaging Het
Tut1 A G 19: 8,939,751 (GRCm39) D245G probably damaging Het
Usf3 T A 16: 44,041,589 (GRCm39) V2023E probably damaging Het
Zfp27 C A 7: 29,595,680 (GRCm39) R95M possibly damaging Het
Other mutations in Vps33a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Vps33a APN 5 123,711,006 (GRCm39) missense probably benign 0.00
IGL01459:Vps33a APN 5 123,673,371 (GRCm39) missense probably benign 0.08
IGL02473:Vps33a APN 5 123,707,634 (GRCm39) missense probably damaging 1.00
R0498:Vps33a UTSW 5 123,709,024 (GRCm39) missense probably benign 0.40
R1134:Vps33a UTSW 5 123,708,975 (GRCm39) missense probably damaging 0.97
R1928:Vps33a UTSW 5 123,696,684 (GRCm39) missense probably benign 0.02
R2012:Vps33a UTSW 5 123,669,244 (GRCm39) splice site probably null
R2926:Vps33a UTSW 5 123,707,634 (GRCm39) missense possibly damaging 0.83
R3688:Vps33a UTSW 5 123,673,274 (GRCm39) splice site probably null
R3872:Vps33a UTSW 5 123,669,255 (GRCm39) missense probably benign 0.16
R4437:Vps33a UTSW 5 123,669,947 (GRCm39) missense probably benign
R5153:Vps33a UTSW 5 123,696,691 (GRCm39) missense probably damaging 1.00
R5396:Vps33a UTSW 5 123,696,693 (GRCm39) missense probably damaging 0.98
R5686:Vps33a UTSW 5 123,685,064 (GRCm39) critical splice donor site probably null
R5714:Vps33a UTSW 5 123,707,563 (GRCm39) missense probably benign
R5814:Vps33a UTSW 5 123,703,119 (GRCm39) missense probably damaging 1.00
R6845:Vps33a UTSW 5 123,673,335 (GRCm39) missense probably benign 0.02
R7183:Vps33a UTSW 5 123,673,278 (GRCm39) missense probably null 0.83
R7359:Vps33a UTSW 5 123,696,696 (GRCm39) missense probably benign 0.00
R7593:Vps33a UTSW 5 123,674,619 (GRCm39) missense probably benign 0.00
R7855:Vps33a UTSW 5 123,709,042 (GRCm39) missense possibly damaging 0.78
R7885:Vps33a UTSW 5 123,673,312 (GRCm39) missense possibly damaging 0.70
R8025:Vps33a UTSW 5 123,696,738 (GRCm39) missense possibly damaging 0.76
R8139:Vps33a UTSW 5 123,672,015 (GRCm39) missense probably benign 0.04
R8275:Vps33a UTSW 5 123,707,522 (GRCm39) missense probably damaging 0.99
R8434:Vps33a UTSW 5 123,671,944 (GRCm39) missense possibly damaging 0.74
R8845:Vps33a UTSW 5 123,709,538 (GRCm39) critical splice donor site probably null
R8879:Vps33a UTSW 5 123,671,962 (GRCm39) missense probably damaging 1.00
R8880:Vps33a UTSW 5 123,707,506 (GRCm39) missense probably damaging 0.98
R9172:Vps33a UTSW 5 123,674,604 (GRCm39) missense probably benign 0.17
R9440:Vps33a UTSW 5 123,703,047 (GRCm39) missense probably damaging 1.00
R9502:Vps33a UTSW 5 123,696,705 (GRCm39) missense probably benign 0.00
R9725:Vps33a UTSW 5 123,669,135 (GRCm39) missense possibly damaging 0.95
X0026:Vps33a UTSW 5 123,685,160 (GRCm39) missense possibly damaging 0.81
Posted On 2015-12-18