Incidental Mutation 'R8845:Vps33a'
ID 674647
Institutional Source Beutler Lab
Gene Symbol Vps33a
Ensembl Gene ENSMUSG00000029434
Gene Name VPS33A CORVET/HOPS core subunit
Synonyms 3830421M04Rik, bf
MMRRC Submission 068734-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8845 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 123666820-123711104 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 123709538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031388]
AlphaFold Q9D2N9
Predicted Effect probably null
Transcript: ENSMUST00000031388
SMART Domains Protein: ENSMUSP00000031388
Gene: ENSMUSG00000029434

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
Pfam:Sec1 34 592 7.2e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197467
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,846,428 (GRCm39) P627S probably benign Het
Abca4 G A 3: 121,930,651 (GRCm39) V1383M probably damaging Het
Acer3 A G 7: 97,910,832 (GRCm39) S77P probably damaging Het
Adgrv1 G T 13: 81,629,478 (GRCm39) T3640N possibly damaging Het
Agmo T C 12: 37,294,364 (GRCm39) L104P probably benign Het
Alox12 C A 11: 70,137,877 (GRCm39) G421V probably damaging Het
Atad2 A G 15: 57,989,532 (GRCm39) V182A probably damaging Het
Bnc2 C T 4: 84,194,338 (GRCm39) A929T possibly damaging Het
Bola3 T C 6: 83,335,154 (GRCm39) M83T probably damaging Het
Brca2 T C 5: 150,466,847 (GRCm39) F2204L possibly damaging Het
Cachd1 T C 4: 100,810,343 (GRCm39) V315A probably benign Het
Ccdc154 C A 17: 25,390,138 (GRCm39) N547K probably damaging Het
Ccdc62 C A 5: 124,092,470 (GRCm39) T485K probably benign Het
Cdc40 G A 10: 40,717,790 (GRCm39) T371I possibly damaging Het
Cep112 T C 11: 108,461,193 (GRCm39) F657L probably damaging Het
Cirbp A G 10: 80,005,931 (GRCm39) D62G probably damaging Het
Cntf A C 19: 12,741,664 (GRCm39) S65R probably benign Het
Cxxc4 CGGC CGGCGGGGGC 3: 133,945,912 (GRCm39) probably benign Het
Cyfip1 G T 7: 55,579,834 (GRCm39) G1229V probably benign Het
Cyp4a30b A C 4: 115,315,493 (GRCm39) N238T probably benign Het
Dbx2 G A 15: 95,552,517 (GRCm39) R43C probably benign Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Fbxw13 G T 9: 109,023,833 (GRCm39) F70L possibly damaging Het
Fhod3 A G 18: 25,265,976 (GRCm39) T1555A probably damaging Het
Fnbp4 A G 2: 90,606,368 (GRCm39) M763V probably benign Het
Gdf7 A G 12: 8,348,905 (GRCm39) S131P unknown Het
Gm9938 A T 19: 23,701,941 (GRCm39) E93V unknown Het
Golim4 A T 3: 75,802,272 (GRCm39) M340K probably damaging Het
Gphn A G 12: 78,538,953 (GRCm39) S200G probably benign Het
Hpse T C 5: 100,859,248 (GRCm39) D99G probably benign Het
Iqgap2 A T 13: 95,794,392 (GRCm39) N1193K possibly damaging Het
Jag2 A T 12: 112,883,714 (GRCm39) C256S probably damaging Het
Ldb3 T C 14: 34,258,634 (GRCm39) Y657C probably damaging Het
Lmtk2 T A 5: 144,110,704 (GRCm39) Y475N probably damaging Het
Mep1b A T 18: 21,230,379 (GRCm39) K644* probably null Het
Muc4 A C 16: 32,576,889 (GRCm39) T60P possibly damaging Het
Nckap5 G T 1: 125,909,423 (GRCm39) Q1603K possibly damaging Het
Npy6r C T 18: 44,408,606 (GRCm39) T9I probably benign Het
Nsd2 T C 5: 34,039,885 (GRCm39) C846R probably damaging Het
Oard1 A C 17: 48,721,259 (GRCm39) K64Q probably benign Het
Or4c103 T A 2: 88,513,735 (GRCm39) I114F possibly damaging Het
Or52e19b A T 7: 103,032,357 (GRCm39) V284D probably damaging Het
Or5w8 G T 2: 87,687,545 (GRCm39) V9L probably benign Het
Or6c208 A G 10: 129,224,065 (GRCm39) T188A probably damaging Het
Pkhd1l1 T G 15: 44,368,650 (GRCm39) S823A probably benign Het
Pla2r1 A G 2: 60,259,053 (GRCm39) S1112P possibly damaging Het
Plekho2 T C 9: 65,465,963 (GRCm39) T142A probably damaging Het
Prr35 A T 17: 26,165,823 (GRCm39) V488E probably benign Het
Prrc2b T A 2: 32,102,105 (GRCm39) M726K possibly damaging Het
Prrc2b A T 2: 32,106,162 (GRCm39) K1514I possibly damaging Het
Rin1 A T 19: 5,104,947 (GRCm39) D669V probably damaging Het
Setd1b C T 5: 123,282,310 (GRCm39) A146V unknown Het
Sigmar1 G A 4: 41,741,234 (GRCm39) R7W probably damaging Het
Slain1 C T 14: 103,925,747 (GRCm39) T365I possibly damaging Het
Slc38a2 G A 15: 96,592,900 (GRCm39) T186I probably benign Het
Tas2r130 A T 6: 131,607,642 (GRCm39) V51E probably benign Het
Tgfb1i1 A T 7: 127,851,690 (GRCm39) H332L possibly damaging Het
Trav7n-4 T C 14: 53,328,846 (GRCm39) L15S probably damaging Het
Ttc28 T C 5: 111,372,041 (GRCm39) V861A probably benign Het
Ttn A G 2: 76,632,658 (GRCm39) I14132T probably damaging Het
Ttn T C 2: 76,606,380 (GRCm39) E18143G probably damaging Het
Vmn1r203 C T 13: 22,708,720 (GRCm39) S167L possibly damaging Het
Vmn2r108 A T 17: 20,691,361 (GRCm39) H387Q probably benign Het
Vps50 G A 6: 3,504,926 (GRCm39) V31I probably benign Het
Wdcp A G 12: 4,901,439 (GRCm39) T432A probably benign Het
Wdr36 T A 18: 32,994,098 (GRCm39) Y645* probably null 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
IGL02899:Vps33a APN 5 123,669,239 (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
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
Predicted Primers PCR Primer
(F):5'- GCTTGTGCGCAAAATGGTTG -3'
(R):5'- AGGCTATAATGTGACCAGAGCC -3'

Sequencing Primer
(F):5'- ATGCTGGACATCAATTTCGGC -3'
(R):5'- CCCCAGATCCTTGGAAATTTGATGG -3'
Posted On 2021-07-15