Incidental Mutation 'R7216:Vmp1'
ID 561490
Institutional Source Beutler Lab
Gene Symbol Vmp1
Ensembl Gene ENSMUSG00000018171
Gene Name vacuole membrane protein 1
Synonyms Tmem49, Tango5, 4930579A11Rik, 3110098I04Rik
MMRRC Submission 045288-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R7216 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 86474691-86574662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86492859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 317 (V317M)
Ref Sequence ENSEMBL: ENSMUSP00000018315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018315]
AlphaFold Q99KU0
Predicted Effect probably damaging
Transcript: ENSMUST00000018315
AA Change: V317M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018315
Gene: ENSMUSG00000018171
AA Change: V317M

DomainStartEndE-ValueType
transmembrane domain 78 95 N/A INTRINSIC
transmembrane domain 115 137 N/A INTRINSIC
Pfam:SNARE_assoc 190 303 1.5e-10 PFAM
transmembrane domain 306 328 N/A INTRINSIC
transmembrane domain 371 388 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,240 (GRCm39) N1551K probably benign Het
Amy2a1 T C 3: 113,324,090 (GRCm39) D150G possibly damaging Het
Atp2b1 T A 10: 98,822,839 (GRCm39) C165S probably benign Het
Atp2c1 A T 9: 105,344,930 (GRCm39) D102E probably benign Het
Capn8 C A 1: 182,426,363 (GRCm39) R233S possibly damaging Het
Cd48 T C 1: 171,523,390 (GRCm39) S78P probably damaging Het
Clasp1 T A 1: 118,475,648 (GRCm39) D944E probably benign Het
Clip2 A G 5: 134,531,771 (GRCm39) M678T probably benign Het
Clmp T C 9: 40,672,205 (GRCm39) Y12H possibly damaging Het
Col22a1 A T 15: 71,845,694 (GRCm39) V356D probably damaging Het
Copg2 A T 6: 30,862,535 (GRCm39) D101E probably damaging Het
Cpsf6 G A 10: 117,197,928 (GRCm39) P229S unknown Het
Dgke T C 11: 88,941,163 (GRCm39) D340G probably benign Het
Dlg1 TAAA TAA 16: 31,615,736 (GRCm39) probably null Het
Dlg5 G A 14: 24,186,706 (GRCm39) Q1865* probably null Het
Dnajc2 C T 5: 21,981,777 (GRCm39) R123Q probably damaging Het
Efcab3 A T 11: 104,771,375 (GRCm39) K2633N possibly damaging Het
Egln2 T C 7: 26,859,254 (GRCm39) D365G probably damaging Het
Epha4 T C 1: 77,421,621 (GRCm39) D287G probably damaging Het
Fat4 A G 3: 38,945,192 (GRCm39) T1362A probably damaging Het
Flt4 A G 11: 49,525,508 (GRCm39) T685A possibly damaging Het
Fras1 T C 5: 96,887,173 (GRCm39) Y2652H probably damaging Het
Gas2 A G 7: 51,547,005 (GRCm39) E52G possibly damaging Het
Gm5093 A T 17: 46,751,014 (GRCm39) D4E not run Het
Gm6370 A T 5: 146,430,723 (GRCm39) T303S probably benign Het
Gpr161 A G 1: 165,134,115 (GRCm39) I126V probably benign Het
Gpr63 T C 4: 25,008,038 (GRCm39) L254P probably damaging Het
H2-M9 C T 17: 36,951,594 (GRCm39) V294I probably benign Het
Insr T A 8: 3,253,034 (GRCm39) N375I possibly damaging Het
Ints1 T C 5: 139,754,739 (GRCm39) N600S possibly damaging Het
Ints10 A G 8: 69,274,809 (GRCm39) N628S probably damaging Het
Irf2 A G 8: 47,246,591 (GRCm39) T20A probably benign Het
Irs1 T A 1: 82,267,476 (GRCm39) T247S probably damaging Het
Islr C T 9: 58,064,250 (GRCm39) S419N unknown Het
Kcna2 T A 3: 107,012,109 (GRCm39) I230N probably damaging Het
Kif3c C A 12: 3,416,126 (GRCm39) A49E probably benign Het
Kifap3 A T 1: 163,623,558 (GRCm39) K108N probably damaging Het
Lama3 T A 18: 12,563,057 (GRCm39) F527I probably damaging Het
Layn A G 9: 50,988,352 (GRCm39) probably benign Het
Lims2 G T 18: 32,090,315 (GRCm39) W276L probably damaging Het
Lsp1 T C 7: 142,042,179 (GRCm39) L133S probably damaging Het
Map3k6 T G 4: 132,974,211 (GRCm39) V536G probably damaging Het
Med7 T A 11: 46,331,681 (GRCm39) L92H probably damaging Het
Mllt1 A G 17: 57,234,042 (GRCm39) V48A probably damaging Het
Mtcl2 T C 2: 156,860,290 (GRCm39) R1650G possibly damaging Het
Neurl4 T A 11: 69,801,088 (GRCm39) V1153E probably damaging Het
Nkx2-1 A C 12: 56,581,587 (GRCm39) C87G probably damaging Het
Nsun7 T C 5: 66,436,000 (GRCm39) S291P probably damaging Het
Or10n1 A T 9: 39,525,790 (GRCm39) Q309L probably benign Het
Or13a18 A T 7: 140,190,373 (GRCm39) N90I possibly damaging Het
Or1p1c A T 11: 74,160,550 (GRCm39) I112F probably damaging Het
Or4e1 G A 14: 52,700,945 (GRCm39) P174S probably damaging Het
Or7g17 T A 9: 18,768,632 (GRCm39) M237K probably benign Het
Pals1 G A 12: 78,844,006 (GRCm39) R70H probably damaging Het
Pbrm1 A G 14: 30,767,379 (GRCm39) Y331C possibly damaging Het
Pirb T A 7: 3,719,273 (GRCm39) T539S probably benign Het
Plch2 T G 4: 155,068,685 (GRCm39) T1314P probably benign Het
Polk T C 13: 96,644,728 (GRCm39) S133G probably benign Het
Pramel27 A G 4: 143,578,399 (GRCm39) I220V probably damaging Het
Prdm5 A T 6: 65,904,967 (GRCm39) K533* probably null Het
Prmt1 T A 7: 44,632,997 (GRCm39) Q35H probably benign Het
Pum3 A T 19: 27,401,625 (GRCm39) W142R probably damaging Het
Rest G A 5: 77,430,455 (GRCm39) R958H probably benign Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Ripor2 G A 13: 24,855,886 (GRCm39) G109R probably damaging Het
Sec62 C T 3: 30,872,978 (GRCm39) Q354* probably null Het
Snx14 T C 9: 88,263,844 (GRCm39) Y847C probably damaging Het
Sox7 A T 14: 64,185,438 (GRCm39) D158V probably benign Het
Spag8 A G 4: 43,652,034 (GRCm39) V350A possibly damaging Het
Syngr1 A T 15: 79,995,934 (GRCm39) I158F probably damaging Het
Tacstd2 C A 6: 67,511,979 (GRCm39) V238L probably benign Het
Tex15 T C 8: 34,063,014 (GRCm39) S815P possibly damaging Het
Tmem117 A T 15: 94,612,793 (GRCm39) T110S possibly damaging Het
Tnrc6a T C 7: 122,770,718 (GRCm39) I836T probably benign Het
Trim30b C A 7: 104,006,569 (GRCm39) V96L probably benign Het
Tssk3 TGCTATCATGGGG TG 4: 129,383,106 (GRCm39) probably null Het
Tyk2 G T 9: 21,031,822 (GRCm39) H418N probably benign Het
Uap1 G T 1: 169,986,472 (GRCm39) T170K probably damaging Het
Vmn1r40 T C 6: 89,691,606 (GRCm39) V141A not run Het
Vmn1r54 T A 6: 90,246,647 (GRCm39) I187K probably damaging Het
Wnt8b A G 19: 44,500,511 (GRCm39) K366R probably benign Het
Zfp207 C T 11: 80,286,004 (GRCm39) P415L unknown Het
Zfp263 A G 16: 3,562,435 (GRCm39) E66G probably damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zfp985 T A 4: 147,667,913 (GRCm39) H260Q probably damaging Het
Zmiz1 GCC GC 14: 25,576,624 (GRCm39) probably null Het
Zmiz1 A G 14: 25,576,633 (GRCm39) R47G probably damaging Het
Zmiz1 A C 14: 25,576,631 (GRCm39) Q46P probably damaging Het
Other mutations in Vmp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Vmp1 APN 11 86,498,019 (GRCm39) missense possibly damaging 0.47
R1179:Vmp1 UTSW 11 86,498,055 (GRCm39) missense probably damaging 1.00
R1500:Vmp1 UTSW 11 86,552,026 (GRCm39) missense possibly damaging 0.78
R1847:Vmp1 UTSW 11 86,534,413 (GRCm39) nonsense probably null
R4094:Vmp1 UTSW 11 86,534,406 (GRCm39) missense probably benign 0.03
R4256:Vmp1 UTSW 11 86,552,014 (GRCm39) missense probably benign 0.02
R4817:Vmp1 UTSW 11 86,492,879 (GRCm39) missense probably benign 0.01
R5267:Vmp1 UTSW 11 86,554,377 (GRCm39) missense probably benign 0.00
R5618:Vmp1 UTSW 11 86,554,388 (GRCm39) missense probably benign 0.00
R5921:Vmp1 UTSW 11 86,477,336 (GRCm39) missense probably benign
R6800:Vmp1 UTSW 11 86,556,913 (GRCm39) splice site probably null
R7150:Vmp1 UTSW 11 86,477,402 (GRCm39) missense probably benign 0.08
R7582:Vmp1 UTSW 11 86,476,225 (GRCm39) missense probably benign 0.13
R7593:Vmp1 UTSW 11 86,477,377 (GRCm39) missense probably benign 0.01
R8291:Vmp1 UTSW 11 86,498,064 (GRCm39) missense probably damaging 1.00
R8747:Vmp1 UTSW 11 86,492,885 (GRCm39) missense probably damaging 1.00
R9684:Vmp1 UTSW 11 86,476,156 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAAGGGTCACATATTCTACCCC -3'
(R):5'- AGACTACAGCTGTGCTTAAGG -3'

Sequencing Primer
(F):5'- GGGTCACATATTCTACCCCCAAAG -3'
(R):5'- CCAACTACCGTCTGAATTAAATGGTC -3'
Posted On 2019-06-26