Incidental Mutation 'IGL03035:Vps36'
ID408606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps36
Ensembl Gene ENSMUSG00000031479
Gene Namevacuolar protein sorting 36
SynonymsEap45, 2810408E15Rik, 1700010A24Rik, 2210415M20Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.940) question?
Stock #IGL03035
Quality Score
Status
Chromosome8
Chromosomal Location22192809-22220843 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22218415 bp
ZygosityHeterozygous
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]
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: 142,627,593 L1004P probably damaging Het
Adgrf5 T C 17: 43,430,627 I385T possibly damaging Het
Alpk3 T C 7: 81,078,604 V494A probably benign Het
Camta2 C A 11: 70,671,509 E1021* probably null Het
Ccdc6 T A 10: 70,182,176 S334T probably benign Het
Cd84 T C 1: 171,852,034 V93A probably damaging Het
Ceacam20 T C 7: 19,977,908 probably null Het
Crip2 A C 12: 113,144,125 T103P probably benign Het
Cyp4f14 T A 17: 32,914,634 T83S probably benign Het
Dapk1 T A 13: 60,716,773 V127D probably damaging Het
Dnah7c A G 1: 46,524,117 E609G probably benign Het
Dscam T A 16: 96,819,970 I513F possibly damaging Het
Ell2 T A 13: 75,763,648 L351* probably null Het
Emcn G T 3: 137,372,851 probably null Het
Fdft1 A T 14: 63,163,389 C98* probably null Het
Fer1l4 A G 2: 156,022,606 S1663P possibly damaging Het
Flt4 C A 11: 49,645,897 Y1231* probably null Het
Gatb A G 3: 85,601,947 K139E probably damaging Het
Gm13212 C A 4: 145,622,232 Q80K possibly damaging Het
Gtf2a1 C A 12: 91,572,637 probably benign Het
Gtf3c2 A C 5: 31,166,014 V574G possibly damaging Het
Heatr1 T C 13: 12,413,219 probably benign Het
Homer2 T A 7: 81,624,278 T57S possibly damaging Het
Ice2 C A 9: 69,425,688 F825L probably benign Het
Lepr C A 4: 101,764,980 L370I probably damaging Het
Nalcn G A 14: 123,278,218 Q1724* probably null Het
Nufip1 A G 14: 76,115,818 D222G probably damaging Het
Olfr1289 T C 2: 111,483,823 V159A probably benign Het
Prl3b1 A G 13: 27,249,533 probably benign Het
Ptbp3 A T 4: 59,477,218 M393K probably benign Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rapgef2 T A 3: 79,094,424 H282L probably damaging Het
Rars2 T C 4: 34,656,865 probably null Het
Rnf213 G A 11: 119,445,626 probably benign Het
Ros1 C A 10: 52,075,984 probably benign Het
Slx4ip A G 2: 137,067,703 D206G possibly damaging Het
Sprr1a T A 3: 92,484,577 D39V probably benign Het
Stab1 A G 14: 31,147,769 V1442A probably benign Het
Tbx3 C A 5: 119,683,096 probably benign Het
Ubl3 A G 5: 148,506,137 *118Q probably null Het
Vmn2r55 G A 7: 12,670,816 S220L probably benign Het
Other mutations in Vps36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02577:Vps36 APN 8 22211616 nonsense probably null
R0270:Vps36 UTSW 8 22210456 missense possibly damaging 0.85
R0532:Vps36 UTSW 8 22218245 missense probably benign 0.03
R0966:Vps36 UTSW 8 22206817 nonsense probably null
R1452:Vps36 UTSW 8 22218210 critical splice acceptor site probably null
R1880:Vps36 UTSW 8 22213562 critical splice donor site probably null
R2127:Vps36 UTSW 8 22218289 critical splice donor site probably null
R2128:Vps36 UTSW 8 22218289 critical splice donor site probably null
R3708:Vps36 UTSW 8 22192883 missense probably benign
R4583:Vps36 UTSW 8 22218420 missense probably benign 0.22
R4917:Vps36 UTSW 8 22218264 missense possibly damaging 0.93
R6354:Vps36 UTSW 8 22205755 missense probably damaging 1.00
R6597:Vps36 UTSW 8 22202304 missense probably benign
R7207:Vps36 UTSW 8 22211607 missense probably benign 0.28
R8251:Vps36 UTSW 8 22192916 missense probably benign 0.01
Z1177:Vps36 UTSW 8 22192830 start gained probably benign
Posted On2016-08-02