Incidental Mutation 'R5618:Vmp1'
ID 439658
Institutional Source Beutler Lab
Gene Symbol Vmp1
Ensembl Gene ENSMUSG00000018171
Gene Name vacuole membrane protein 1
Synonyms Tmem49, Tango5, 4930579A11Rik, 3110098I04Rik
MMRRC Submission 043277-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5618 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 86474691-86574662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86554388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 75 (R75H)
Ref Sequence ENSEMBL: ENSMUSP00000018315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018315] [ENSMUST00000143991]
AlphaFold Q99KU0
Predicted Effect probably benign
Transcript: ENSMUST00000018315
AA Change: R75H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000018315
Gene: ENSMUSG00000018171
AA Change: R75H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139040
Predicted Effect probably benign
Transcript: ENSMUST00000143991
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik G A 5: 107,696,065 (GRCm39) W167* probably null Het
Acvr1 C T 2: 58,352,955 (GRCm39) R335Q probably damaging Het
Atg7 A G 6: 114,650,660 (GRCm39) D67G probably damaging Het
Avil T C 10: 126,846,446 (GRCm39) F417S possibly damaging Het
AW551984 A T 9: 39,502,000 (GRCm39) L702Q probably damaging Het
Bcl7a A T 5: 123,499,265 (GRCm39) N95Y probably damaging Het
Cblb A G 16: 51,973,031 (GRCm39) D454G possibly damaging Het
Cc2d2a A T 5: 43,887,249 (GRCm39) Q1226H probably benign Het
Cct5 A G 15: 31,598,161 (GRCm39) S13P possibly damaging Het
Clca3a1 C T 3: 144,710,738 (GRCm39) E822K probably benign Het
Csgalnact2 A T 6: 118,103,277 (GRCm39) D228E probably damaging Het
Defb12 A T 8: 19,164,814 (GRCm39) M8K possibly damaging Het
Dipk1b T C 2: 26,524,887 (GRCm39) S96P probably damaging Het
Dysf A G 6: 84,083,806 (GRCm39) D736G probably benign Het
Exog G T 9: 119,291,817 (GRCm39) D365Y probably damaging Het
Fam222b T G 11: 78,045,066 (GRCm39) V81G probably benign Het
Fbl A G 7: 27,878,411 (GRCm39) E301G probably damaging Het
Fez1 A T 9: 36,755,228 (GRCm39) N76Y probably damaging Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
H2-Q4 T A 17: 35,598,901 (GRCm39) F57Y probably damaging Het
Ift88 T C 14: 57,718,965 (GRCm39) I650T possibly damaging Het
Kif1b A T 4: 149,354,346 (GRCm39) D231E possibly damaging Het
Lig4 A T 8: 10,022,021 (GRCm39) D586E probably benign Het
Mlc1 C A 15: 88,858,769 (GRCm39) L126F probably damaging Het
Muc4 A G 16: 32,754,253 (GRCm38) T1376A probably benign Het
Ncoa6 A T 2: 155,279,817 (GRCm39) D66E possibly damaging Het
Or6ae1 A G 7: 139,742,185 (GRCm39) V226A probably damaging Het
Or8b44 C T 9: 38,410,036 (GRCm39) Q24* probably null Het
Pard6a T C 8: 106,429,546 (GRCm39) V168A probably damaging Het
Pmpcb A G 5: 21,947,786 (GRCm39) N163S possibly damaging Het
Pramel27 A T 4: 143,577,263 (GRCm39) E15V possibly damaging Het
Prdm2 C T 4: 142,860,107 (GRCm39) C1061Y probably benign Het
Prkdc A G 16: 15,627,476 (GRCm39) Y3378C probably damaging Het
Sema6a A T 18: 47,415,015 (GRCm39) V425E probably damaging Het
Sema7a A T 9: 57,867,566 (GRCm39) E439D possibly damaging Het
Serpinf1 T A 11: 75,301,010 (GRCm39) T402S possibly damaging Het
Sf3a2 T C 10: 80,640,410 (GRCm39) probably benign Het
Skic3 T A 13: 76,321,545 (GRCm39) S1346T probably benign Het
Smchd1 A T 17: 71,762,722 (GRCm39) D172E probably damaging Het
Spag5 T G 11: 78,194,906 (GRCm39) I71S probably benign Het
Spata31d1d G A 13: 59,874,214 (GRCm39) A1107V probably benign Het
Svep1 A C 4: 58,070,537 (GRCm39) S2416R probably benign Het
Tbc1d9 A G 8: 83,969,221 (GRCm39) Y503C probably damaging Het
Tlr9 A T 9: 106,101,938 (GRCm39) I410F possibly damaging Het
Tmem87a C A 2: 120,199,787 (GRCm39) L452F probably benign Het
Tmprss11d A T 5: 86,454,154 (GRCm39) M217K probably benign Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Vmn2r80 T C 10: 78,984,755 (GRCm39) Y36H probably benign Het
Vmn2r87 A T 10: 130,315,817 (GRCm39) F83Y probably damaging Het
Wapl T A 14: 34,413,863 (GRCm39) Y242N possibly damaging Het
Zfp473 T A 7: 44,391,156 (GRCm39) D6V probably benign 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
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
R7216:Vmp1 UTSW 11 86,492,859 (GRCm39) missense probably damaging 0.98
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'- AGCTATGAGACAGTGCTTGGG -3'
(R):5'- AAACCAGATGAGGCTTTGGG -3'

Sequencing Primer
(F):5'- GGGTATTTTTAGTGCAGGAATAAGAC -3'
(R):5'- CTGTCTATCCCAAAGGCT -3'
Posted On 2016-11-08