Incidental Mutation 'R1179:Vmp1'
| ID |
100245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmp1
|
| Ensembl Gene |
ENSMUSG00000018171 |
| Gene Name |
vacuole membrane protein 1 |
| Synonyms |
Tmem49, Tango5, 4930579A11Rik, 3110098I04Rik |
| MMRRC Submission |
039251-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1179 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86474691-86574662 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86498055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 287
(T287A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018315]
|
| AlphaFold |
Q99KU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018315
AA Change: T287A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018315
Gene: ENSMUSG00000018171
AA Change: T287A
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000123590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153971
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.3%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,117,054 (GRCm39) |
|
probably null |
Het |
| Aknad1 |
T |
C |
3: 108,659,783 (GRCm39) |
S266P |
possibly damaging |
Het |
| Gaa |
A |
T |
11: 119,171,954 (GRCm39) |
R686W |
probably damaging |
Het |
| Gls2 |
A |
T |
10: 128,035,103 (GRCm39) |
T79S |
probably damaging |
Het |
| Golga2 |
G |
T |
2: 32,193,707 (GRCm39) |
R511L |
possibly damaging |
Het |
| Hrnr |
T |
C |
3: 93,239,850 (GRCm39) |
S3363P |
unknown |
Het |
| Ift81 |
T |
C |
5: 122,740,773 (GRCm39) |
K187R |
probably benign |
Het |
| Kcnj1 |
T |
A |
9: 32,308,062 (GRCm39) |
I162N |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mc5r |
C |
G |
18: 68,471,741 (GRCm39) |
|
probably null |
Het |
| Naga |
T |
A |
15: 82,214,357 (GRCm39) |
N385Y |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,362,762 (GRCm39) |
V163A |
probably damaging |
Het |
| Or6c202 |
A |
C |
10: 128,995,927 (GRCm39) |
S309A |
probably benign |
Het |
| Or8g55 |
T |
C |
9: 39,785,371 (GRCm39) |
S267P |
possibly damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,094,205 (GRCm39) |
E378G |
probably damaging |
Het |
| Pnisr |
A |
G |
4: 21,865,937 (GRCm39) |
T309A |
possibly damaging |
Het |
| Rad54l |
A |
T |
4: 115,968,517 (GRCm39) |
L93Q |
probably benign |
Het |
| Ralgps2 |
G |
T |
1: 156,729,369 (GRCm39) |
P50Q |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,786,165 (GRCm39) |
V594A |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tmem17 |
A |
T |
11: 22,468,454 (GRCm39) |
N131I |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,714,749 (GRCm39) |
R107H |
possibly damaging |
Het |
| Zfp423 |
T |
A |
8: 88,414,700 (GRCm39) |
H1185L |
probably damaging |
Het |
| Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02207:Vmp1
|
APN |
11 |
86,498,019 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation