Incidental Mutation 'IGL01123:Vps4a'
ID 51799
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 # IGL01123
Quality Score
Status
Chromosome 8
Chromosomal Location 107757901-107772392 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 107765851 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: ENSMUST00000132096
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,849,934 (GRCm39) D167E probably damaging Het
Aadat A T 8: 60,979,648 (GRCm39) E170V probably benign Het
Acsf2 T C 11: 94,461,276 (GRCm39) E300G probably benign Het
Agbl3 C T 6: 34,823,911 (GRCm39) Q859* probably null Het
Arhgap11a T C 2: 113,665,118 (GRCm39) probably benign Het
Arhgef40 C A 14: 52,231,803 (GRCm39) Q730K probably damaging Het
Armc3 C T 2: 19,206,616 (GRCm39) P13L possibly damaging Het
B3gnt2 T A 11: 22,786,490 (GRCm39) T233S probably benign Het
Bnc1 G A 7: 81,623,455 (GRCm39) Q591* probably null Het
Bsn A T 9: 107,993,185 (GRCm39) F856I probably damaging Het
CK137956 T A 4: 127,829,643 (GRCm39) T558S probably benign Het
Coq8b G A 7: 26,939,509 (GRCm39) V180I probably damaging Het
Csmd1 A T 8: 17,584,944 (GRCm39) L16Q possibly damaging Het
Dhx37 A G 5: 125,496,152 (GRCm39) S769P possibly damaging Het
Diras1 T A 10: 80,858,249 (GRCm39) M1L probably damaging Het
Fam161b A G 12: 84,404,438 (GRCm39) W81R probably benign Het
Fat4 A T 3: 39,011,418 (GRCm39) I2173L probably benign Het
Fbn2 T C 18: 58,237,153 (GRCm39) T617A possibly damaging Het
Gabrq G A X: 71,880,439 (GRCm39) D311N probably benign Het
Isl2 G T 9: 55,452,746 (GRCm39) G335C probably damaging Het
Kbtbd7 T C 14: 79,666,052 (GRCm39) V628A probably damaging Het
Kmt2d T C 15: 98,735,029 (GRCm39) M5378V unknown Het
Lrrc23 G T 6: 124,755,782 (GRCm39) D75E probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Matn1 T C 4: 130,677,322 (GRCm39) I177T possibly damaging Het
Mtor T C 4: 148,537,494 (GRCm39) S60P probably benign Het
Naip6 T C 13: 100,440,946 (GRCm39) E278G probably benign Het
Nsun6 T C 2: 15,053,789 (GRCm39) I7V possibly damaging Het
Pabpc6 A T 17: 9,887,076 (GRCm39) S492T probably benign Het
Pakap C T 4: 57,757,627 (GRCm39) Q188* probably null Het
Pom121 A T 5: 135,420,560 (GRCm39) V287D unknown Het
Ptprq A T 10: 107,522,079 (GRCm39) F624Y probably damaging Het
Ptprr A G 10: 116,024,222 (GRCm39) T178A probably benign Het
Pygm A G 19: 6,441,424 (GRCm39) N473S probably benign Het
Ros1 A T 10: 51,996,905 (GRCm39) Y1256N probably damaging Het
Scpep1 T C 11: 88,832,154 (GRCm39) N192S possibly damaging Het
Serpina1f A G 12: 103,660,265 (GRCm39) S6P possibly damaging Het
Sgca T A 11: 94,863,113 (GRCm39) Q80L probably damaging Het
Skint6 A G 4: 112,661,879 (GRCm39) L1235P possibly damaging Het
Slc23a2 A C 2: 131,898,736 (GRCm39) N600K probably benign Het
Spata20 T C 11: 94,374,221 (GRCm39) T350A probably benign Het
Syne1 G T 10: 5,294,921 (GRCm39) Y1227* probably null Het
Unc13c T C 9: 73,840,479 (GRCm39) Y124C probably benign Het
Usp40 G A 1: 87,913,845 (GRCm39) T416I probably benign Het
Vmn1r200 T C 13: 22,579,571 (GRCm39) W116R probably benign Het
Zfyve16 A G 13: 92,629,030 (GRCm39) V1469A probably damaging Het
Other mutations in Vps4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Vps4a APN 8 107,769,258 (GRCm39) missense probably benign 0.00
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
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 2013-06-21