Incidental Mutation 'IGL03035:Vps36'
ID 408606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps36
Ensembl Gene ENSMUSG00000031479
Gene Name vacuolar protein sorting 36
Synonyms 2210415M20Rik, 1700010A24Rik, 2810408E15Rik, Eap45
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # IGL03035
Quality Score
Status
Chromosome 8
Chromosomal Location 22682825-22710859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22708431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 362 (K362E)
Ref Sequence ENSEMBL: ENSMUSP00000033866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033866]
AlphaFold Q91XD6
PDB Structure The complex structure between the mouse EAP45-GLUE domain and ubiquitin [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000033866
AA Change: K362E

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033866
Gene: ENSMUSG00000031479
AA Change: K362E

DomainStartEndE-ValueType
Pfam:Vps36_ESCRT-II 2 88 1e-19 PFAM
Pfam:EAP30 154 369 1.4e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153949
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,573,319 (GRCm39) L1004P probably damaging Het
Adgrf5 T C 17: 43,741,518 (GRCm39) I385T possibly damaging Het
Alpk3 T C 7: 80,728,352 (GRCm39) V494A probably benign Het
Camta2 C A 11: 70,562,335 (GRCm39) E1021* probably null Het
Ccdc6 T A 10: 70,018,006 (GRCm39) S334T probably benign Het
Cd84 T C 1: 171,679,601 (GRCm39) V93A probably damaging Het
Ceacam20 T C 7: 19,711,833 (GRCm39) probably null Het
Crip2 A C 12: 113,107,745 (GRCm39) T103P probably benign Het
Cyp4f14 T A 17: 33,133,608 (GRCm39) T83S probably benign Het
Dapk1 T A 13: 60,864,587 (GRCm39) V127D probably damaging Het
Dnah7c A G 1: 46,563,277 (GRCm39) E609G probably benign Het
Dscam T A 16: 96,621,170 (GRCm39) I513F possibly damaging Het
Ell2 T A 13: 75,911,767 (GRCm39) L351* probably null Het
Emcn G T 3: 137,078,612 (GRCm39) probably null Het
Fdft1 A T 14: 63,400,838 (GRCm39) C98* probably null Het
Fer1l4 A G 2: 155,864,526 (GRCm39) S1663P possibly damaging Het
Flt4 C A 11: 49,536,724 (GRCm39) Y1231* probably null Het
Gatb A G 3: 85,509,254 (GRCm39) K139E probably damaging Het
Gtf2a1 C A 12: 91,539,411 (GRCm39) probably benign Het
Gtf3c2 A C 5: 31,323,358 (GRCm39) V574G possibly damaging Het
Heatr1 T C 13: 12,428,100 (GRCm39) probably benign Het
Homer2 T A 7: 81,274,026 (GRCm39) T57S possibly damaging Het
Ice2 C A 9: 69,332,970 (GRCm39) F825L probably benign Het
Lepr C A 4: 101,622,177 (GRCm39) L370I probably damaging Het
Nalcn G A 14: 123,515,630 (GRCm39) Q1724* probably null Het
Nufip1 A G 14: 76,353,258 (GRCm39) D222G probably damaging Het
Or4f4b T C 2: 111,314,168 (GRCm39) V159A probably benign Het
Prl3b1 A G 13: 27,433,516 (GRCm39) probably benign Het
Ptbp3 A T 4: 59,477,218 (GRCm39) M393K probably benign Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rapgef2 T A 3: 79,001,731 (GRCm39) H282L probably damaging Het
Rars2 T C 4: 34,656,865 (GRCm39) probably null Het
Rnf213 G A 11: 119,336,452 (GRCm39) probably benign Het
Ros1 C A 10: 51,952,080 (GRCm39) probably benign Het
Slx4ip A G 2: 136,909,623 (GRCm39) D206G possibly damaging Het
Sprr1a T A 3: 92,391,884 (GRCm39) D39V probably benign Het
Stab1 A G 14: 30,869,726 (GRCm39) V1442A probably benign Het
Tbx3 C A 5: 119,821,161 (GRCm39) probably benign Het
Ubl3 A G 5: 148,442,947 (GRCm39) *118Q probably null Het
Vmn2r55 G A 7: 12,404,743 (GRCm39) S220L probably benign Het
Zfp268 C A 4: 145,348,802 (GRCm39) Q80K possibly damaging Het
Other mutations in Vps36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02577:Vps36 APN 8 22,701,632 (GRCm39) nonsense probably null
R0270:Vps36 UTSW 8 22,700,472 (GRCm39) missense possibly damaging 0.85
R0532:Vps36 UTSW 8 22,708,261 (GRCm39) missense probably benign 0.03
R0966:Vps36 UTSW 8 22,696,833 (GRCm39) nonsense probably null
R1452:Vps36 UTSW 8 22,708,226 (GRCm39) critical splice acceptor site probably null
R1880:Vps36 UTSW 8 22,703,578 (GRCm39) critical splice donor site probably null
R2127:Vps36 UTSW 8 22,708,305 (GRCm39) critical splice donor site probably null
R2128:Vps36 UTSW 8 22,708,305 (GRCm39) critical splice donor site probably null
R3708:Vps36 UTSW 8 22,682,899 (GRCm39) missense probably benign
R4583:Vps36 UTSW 8 22,708,436 (GRCm39) missense probably benign 0.22
R4917:Vps36 UTSW 8 22,708,280 (GRCm39) missense possibly damaging 0.93
R6354:Vps36 UTSW 8 22,695,771 (GRCm39) missense probably damaging 1.00
R6597:Vps36 UTSW 8 22,692,320 (GRCm39) missense probably benign
R7207:Vps36 UTSW 8 22,701,623 (GRCm39) missense probably benign 0.28
R8251:Vps36 UTSW 8 22,682,932 (GRCm39) missense probably benign 0.01
Z1177:Vps36 UTSW 8 22,682,846 (GRCm39) start gained probably benign
Posted On 2016-08-02