Incidental Mutation 'IGL02524:Vps4a'
ID 297007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps4a
Ensembl Gene ENSMUSG00000031913
Gene Name vacuolar protein sorting 4A
Synonyms 4930589C15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02524
Quality Score
Status
Chromosome 8
Chromosomal Location 107757901-107772392 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 107763383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034388]
AlphaFold Q8VEJ9
Predicted Effect probably benign
Transcript: ENSMUST00000034388
SMART Domains Protein: ENSMUSP00000034388
Gene: ENSMUSG00000031913

DomainStartEndE-ValueType
MIT 2 80 2.02e-27 SMART
low complexity region 90 102 N/A INTRINSIC
AAA 159 295 2.89e-22 SMART
Blast:AAA 329 358 8e-9 BLAST
Pfam:Vps4_C 374 434 1.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144527
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acvr1 T C 2: 58,338,319 (GRCm39) probably benign Het
Asap3 A T 4: 135,965,927 (GRCm39) T453S probably damaging Het
Ccdc110 C T 8: 46,394,979 (GRCm39) P290L probably benign Het
Ccdc127 A G 13: 74,501,016 (GRCm39) N11S probably damaging Het
Cd80 T C 16: 38,303,045 (GRCm39) V164A probably benign Het
Ctnna3 T C 10: 64,096,605 (GRCm39) I381T possibly damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Etnppl A G 3: 130,424,320 (GRCm39) probably benign Het
Far2 T A 6: 148,052,156 (GRCm39) L145Q probably damaging Het
Fdxr A G 11: 115,162,086 (GRCm39) probably null Het
Jmy A G 13: 93,609,268 (GRCm39) V347A probably damaging Het
Kcns2 A G 15: 34,838,981 (GRCm39) I115V probably benign Het
Kif2a A G 13: 107,100,863 (GRCm39) L627S possibly damaging Het
Krtap26-1 A G 16: 88,444,367 (GRCm39) S85P possibly damaging Het
Ldlr C A 9: 21,644,977 (GRCm39) D168E probably damaging Het
Lrrc8e T G 8: 4,285,392 (GRCm39) L539R probably damaging Het
Mmp8 A G 9: 7,560,506 (GRCm39) E61G probably damaging Het
Msh2 T C 17: 87,985,785 (GRCm39) F121L probably benign Het
Myh4 A G 11: 67,140,066 (GRCm39) K638E possibly damaging Het
Ndufaf6 A G 4: 11,059,091 (GRCm39) F246S probably benign Het
Nynrin C T 14: 56,108,931 (GRCm39) A1346V possibly damaging Het
Or8k53 A C 2: 86,177,686 (GRCm39) C141W probably damaging Het
P2rx1 C T 11: 72,900,474 (GRCm39) P196L probably damaging Het
Pbx3 T C 2: 34,260,830 (GRCm39) probably benign Het
Psen2 A T 1: 180,073,232 (GRCm39) S30T probably benign Het
Rack1 T C 11: 48,694,298 (GRCm39) V166A probably benign Het
Rpgrip1 A G 14: 52,358,511 (GRCm39) T206A probably benign Het
Rrp7a A G 15: 83,002,379 (GRCm39) probably benign Het
Slco1b2 C T 6: 141,616,798 (GRCm39) T377I probably benign Het
Spmip11 G A 15: 98,469,006 (GRCm39) probably null Het
Sult2a6 A T 7: 13,970,611 (GRCm39) S162T possibly damaging Het
Syt2 A G 1: 134,669,703 (GRCm39) K115E probably benign Het
Tet1 A G 10: 62,714,425 (GRCm39) S457P probably damaging Het
Trbv3 A G 6: 41,025,599 (GRCm39) E63G possibly damaging Het
Unc13d T C 11: 115,961,145 (GRCm39) Y404C probably damaging Het
Usp32 G A 11: 84,900,837 (GRCm39) R1128* probably null Het
Ythdc2 T A 18: 44,980,921 (GRCm39) H505Q probably damaging Het
Ywhab T A 2: 163,858,057 (GRCm39) L208Q probably damaging Het
Zfyve16 T C 13: 92,641,022 (GRCm39) K1241E probably benign Het
Other mutations in Vps4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Vps4a APN 8 107,769,258 (GRCm39) missense probably benign 0.00
IGL01123:Vps4a APN 8 107,765,851 (GRCm39) splice site probably benign
IGL01538:Vps4a APN 8 107,763,556 (GRCm39) missense probably benign 0.03
IGL02601:Vps4a APN 8 107,769,693 (GRCm39) missense probably damaging 1.00
IGL02616:Vps4a APN 8 107,768,909 (GRCm39) missense probably damaging 1.00
IGL03216:Vps4a APN 8 107,763,335 (GRCm39) missense probably damaging 0.99
R0047:Vps4a UTSW 8 107,763,333 (GRCm39) missense probably damaging 0.97
R0047:Vps4a UTSW 8 107,763,333 (GRCm39) missense probably damaging 0.97
R0330:Vps4a UTSW 8 107,769,698 (GRCm39) missense probably benign 0.01
R1384:Vps4a UTSW 8 107,763,276 (GRCm39) missense possibly damaging 0.94
R1933:Vps4a UTSW 8 107,771,190 (GRCm39) missense probably benign 0.21
R7729:Vps4a UTSW 8 107,767,529 (GRCm39) missense probably damaging 0.98
R8964:Vps4a UTSW 8 107,771,686 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16