Incidental Mutation 'IGL01123:Vps4a'
ID51799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps4a
Ensembl Gene ENSMUSG00000031913
Gene Namevacuolar protein sorting 4A
Synonyms4930589C15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01123
Quality Score
Status
Chromosome8
Chromosomal Location107031222-107045755 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 107039219 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034388]
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: 28,973,938 D167E probably damaging Het
Aadat A T 8: 60,526,614 E170V probably benign Het
Acsf2 T C 11: 94,570,450 E300G probably benign Het
Agbl3 C T 6: 34,846,976 Q859* probably null Het
Arhgap11a T C 2: 113,834,773 probably benign Het
Arhgef40 C A 14: 51,994,346 Q730K probably damaging Het
Armc3 C T 2: 19,201,805 P13L possibly damaging Het
B3gnt2 T A 11: 22,836,490 T233S probably benign Het
Bnc1 G A 7: 81,973,707 Q591* probably null Het
Bsn A T 9: 108,115,986 F856I probably damaging Het
CK137956 T A 4: 127,935,850 T558S probably benign Het
Coq8b G A 7: 27,240,084 V180I probably damaging Het
Csmd1 A T 8: 17,534,928 L16Q possibly damaging Het
Dhx37 A G 5: 125,419,088 S769P possibly damaging Het
Diras1 T A 10: 81,022,415 M1L probably damaging Het
Fam161b A G 12: 84,357,664 W81R probably benign Het
Fat4 A T 3: 38,957,269 I2173L probably benign Het
Fbn2 T C 18: 58,104,081 T617A possibly damaging Het
Gabrq G A X: 72,836,833 D311N probably benign Het
Isl2 G T 9: 55,545,462 G335C probably damaging Het
Kbtbd7 T C 14: 79,428,612 V628A probably damaging Het
Kmt2d T C 15: 98,837,148 M5378V unknown Het
Lrrc23 G T 6: 124,778,819 D75E probably benign Het
Mab21l3 G A 3: 101,835,130 T38M probably benign Het
Matn1 T C 4: 130,950,011 I177T possibly damaging Het
Mtor T C 4: 148,453,037 S60P probably benign Het
Naip6 T C 13: 100,304,438 E278G probably benign Het
Nsun6 T C 2: 15,048,978 I7V possibly damaging Het
Pabpc6 A T 17: 9,668,147 S492T probably benign Het
Pakap C T 4: 57,757,627 Q188* probably null Het
Pom121 A T 5: 135,391,706 V287D unknown Het
Ptprq A T 10: 107,686,218 F624Y probably damaging Het
Ptprr A G 10: 116,188,317 T178A probably benign Het
Pygm A G 19: 6,391,394 N473S probably benign Het
Ros1 A T 10: 52,120,809 Y1256N probably damaging Het
Scpep1 T C 11: 88,941,328 N192S possibly damaging Het
Serpina1f A G 12: 103,694,006 S6P possibly damaging Het
Sgca T A 11: 94,972,287 Q80L probably damaging Het
Skint6 A G 4: 112,804,682 L1235P possibly damaging Het
Slc23a2 A C 2: 132,056,816 N600K probably benign Het
Spata20 T C 11: 94,483,395 T350A probably benign Het
Syne1 G T 10: 5,344,921 Y1227* probably null Het
Unc13c T C 9: 73,933,197 Y124C probably benign Het
Usp40 G A 1: 87,986,123 T416I probably benign Het
Vmn1r200 T C 13: 22,395,401 W116R probably benign Het
Zfyve16 A G 13: 92,492,522 V1469A probably damaging Het
Other mutations in Vps4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Vps4a APN 8 107042626 missense probably benign 0.00
IGL01538:Vps4a APN 8 107036924 missense probably benign 0.03
IGL02524:Vps4a APN 8 107036751 splice site probably benign
IGL02601:Vps4a APN 8 107043061 missense probably damaging 1.00
IGL02616:Vps4a APN 8 107042277 missense probably damaging 1.00
IGL03216:Vps4a APN 8 107036703 missense probably damaging 0.99
R0047:Vps4a UTSW 8 107036701 missense probably damaging 0.97
R0047:Vps4a UTSW 8 107036701 missense probably damaging 0.97
R0330:Vps4a UTSW 8 107043066 missense probably benign 0.01
R1384:Vps4a UTSW 8 107036644 missense possibly damaging 0.94
R1933:Vps4a UTSW 8 107044558 missense probably benign 0.21
R7729:Vps4a UTSW 8 107040897 missense probably damaging 0.98
Posted On2013-06-21