Incidental Mutation 'IGL03216:Vps4a'
ID 413482
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 # IGL03216
Quality Score
Status
Chromosome 8
Chromosomal Location 107757901-107772392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107763335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 30 (R30C)
Ref Sequence ENSEMBL: ENSMUSP00000034388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034388]
AlphaFold Q8VEJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000034388
AA Change: R30C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034388
Gene: ENSMUSG00000031913
AA Change: R30C

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano10 A T 9: 122,086,127 (GRCm39) Y491N probably damaging Het
Cacna2d1 T C 5: 16,558,840 (GRCm39) F709L probably damaging Het
Cadps A G 14: 12,439,944 (GRCm38) I1196T probably damaging Het
Cage1 T C 13: 38,190,153 (GRCm39) probably benign Het
Cep350 A T 1: 155,736,373 (GRCm39) C2888S probably benign Het
Cfap52 T C 11: 67,844,932 (GRCm39) T46A possibly damaging Het
Cyp2d26 T C 15: 82,677,462 (GRCm39) M76V probably benign Het
Fermt3 A T 19: 6,976,748 (GRCm39) D653E probably benign Het
Foxj3 A G 4: 119,467,180 (GRCm39) probably benign Het
Gm21985 T A 2: 112,097,281 (GRCm39) S39T probably damaging Het
Herc1 A T 9: 66,386,228 (GRCm39) D3727V probably benign Het
Ifi208 A T 1: 173,506,507 (GRCm39) T97S possibly damaging Het
Iqgap1 T C 7: 80,392,836 (GRCm39) E709G probably benign Het
Itgb5 T A 16: 33,723,208 (GRCm39) H361Q probably benign Het
Mr1 T A 1: 155,005,035 (GRCm39) N335I possibly damaging Het
Nadsyn1 A T 7: 143,351,582 (GRCm39) F684I probably damaging Het
Nf1 A T 11: 79,455,721 (GRCm39) I2544F probably benign Het
Or6c1b A G 10: 129,272,806 (GRCm39) T42A probably damaging Het
Pnp2 T G 14: 51,200,654 (GRCm39) S107A probably benign Het
Pomt1 A G 2: 32,132,955 (GRCm39) I184V probably damaging Het
Slc6a19 T G 13: 73,834,300 (GRCm39) M301L probably benign Het
Smarca5 T C 8: 81,446,287 (GRCm39) Y471C probably damaging Het
Syne2 A T 12: 75,989,735 (GRCm39) probably benign Het
Tasor2 C T 13: 3,624,553 (GRCm39) C1799Y probably damaging Het
Tex55 T C 16: 38,649,052 (GRCm39) D19G possibly damaging Het
Trmt6 T C 2: 132,650,618 (GRCm39) N330S probably null Het
Tsc22d1 T C 14: 76,656,077 (GRCm39) V770A probably benign Het
Ttll6 A G 11: 96,042,840 (GRCm39) D462G probably benign Het
Ttn T C 2: 76,775,393 (GRCm39) H1883R probably damaging Het
Ubxn10 C T 4: 138,448,050 (GRCm39) V209M probably damaging Het
Urb1 T C 16: 90,585,002 (GRCm39) T540A probably benign Het
Vmn2r17 A T 5: 109,600,756 (GRCm39) R685W probably damaging Het
Xpo6 A G 7: 125,703,985 (GRCm39) V1055A probably damaging Het
Zfp445 C T 9: 122,681,043 (GRCm39) C966Y probably damaging 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
IGL02524:Vps4a APN 8 107,763,383 (GRCm39) splice site probably benign
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
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 2016-08-02