Incidental Mutation 'R4256:Vmp1'
ID |
321824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmp1
|
Ensembl Gene |
ENSMUSG00000018171 |
Gene Name |
vacuole membrane protein 1 |
Synonyms |
Tmem49, Tango5, 4930579A11Rik, 3110098I04Rik |
MMRRC Submission |
041069-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R4256 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
86474691-86574662 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 86552014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 117
(I117L)
|
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: I117L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000018315 Gene: ENSMUSG00000018171 AA Change: I117L
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: ENSMUST00000127267
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139040
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143991
|
Meta Mutation Damage Score |
0.0590 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
93% (41/44) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
Atad2 |
A |
G |
15: 57,980,252 (GRCm39) |
S411P |
probably damaging |
Het |
Cdhr2 |
G |
A |
13: 54,861,818 (GRCm39) |
V72I |
probably damaging |
Het |
Celf4 |
T |
C |
18: 25,624,258 (GRCm39) |
I414V |
probably damaging |
Het |
Cfap43 |
G |
A |
19: 47,770,844 (GRCm39) |
T689I |
probably benign |
Het |
Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
Cyp3a11 |
A |
T |
5: 145,806,005 (GRCm39) |
S121T |
probably benign |
Het |
Dip2c |
C |
A |
13: 9,659,092 (GRCm39) |
Q864K |
probably damaging |
Het |
Fbxo3 |
A |
G |
2: 103,881,510 (GRCm39) |
T281A |
probably damaging |
Het |
Gm5148 |
T |
A |
3: 37,768,758 (GRCm39) |
H154L |
unknown |
Het |
Gsdma2 |
T |
A |
11: 98,542,758 (GRCm39) |
|
probably null |
Het |
Hfm1 |
T |
C |
5: 107,052,663 (GRCm39) |
I273M |
possibly damaging |
Het |
Hspa4l |
A |
G |
3: 40,700,435 (GRCm39) |
E14G |
probably benign |
Het |
Inava |
G |
T |
1: 136,142,088 (GRCm39) |
N670K |
probably benign |
Het |
Lgals12 |
T |
G |
19: 7,584,081 (GRCm39) |
E5D |
possibly damaging |
Het |
Lsg1 |
T |
G |
16: 30,392,061 (GRCm39) |
I237L |
probably benign |
Het |
Mettl14 |
T |
C |
3: 123,177,254 (GRCm39) |
E49G |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,370,107 (GRCm39) |
I2675V |
probably benign |
Het |
Or2y1e |
A |
T |
11: 49,218,304 (GRCm39) |
Q22L |
probably benign |
Het |
Or4b1b |
A |
T |
2: 90,112,406 (GRCm39) |
V171E |
probably damaging |
Het |
Or5k15 |
T |
G |
16: 58,710,143 (GRCm39) |
S147R |
probably benign |
Het |
Padi1 |
A |
T |
4: 140,542,089 (GRCm39) |
L611Q |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,277,764 (GRCm39) |
D248G |
probably damaging |
Het |
Plekhm1 |
C |
A |
11: 103,261,760 (GRCm39) |
R940L |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,664,532 (GRCm39) |
|
probably null |
Het |
Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
Sacs |
A |
G |
14: 61,443,786 (GRCm39) |
Y1944C |
probably damaging |
Het |
Slc7a10 |
G |
T |
7: 34,898,140 (GRCm39) |
M297I |
probably damaging |
Het |
Spata31e3 |
A |
C |
13: 50,404,141 (GRCm39) |
S54A |
probably benign |
Het |
Ssh2 |
A |
G |
11: 77,299,009 (GRCm39) |
T112A |
possibly damaging |
Het |
Ttc7 |
A |
T |
17: 87,628,829 (GRCm39) |
|
probably null |
Het |
Vmn1r64 |
T |
A |
7: 5,886,895 (GRCm39) |
H216L |
probably benign |
Het |
Vmn2r112 |
A |
G |
17: 22,837,393 (GRCm39) |
K618R |
probably damaging |
Het |
Vsnl1 |
A |
T |
12: 11,382,056 (GRCm39) |
Y108* |
probably null |
Het |
Wdr31 |
A |
G |
4: 62,375,675 (GRCm39) |
|
probably null |
Het |
Zfp329 |
A |
G |
7: 12,541,840 (GRCm39) |
V284A |
probably benign |
Het |
Zfp551 |
G |
A |
7: 12,150,318 (GRCm39) |
H364Y |
possibly damaging |
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 |
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 |
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 |
PCR Primer
(F):5'- GCACTGGTTTGAGGATTAGAACAC -3'
(R):5'- TGTTCTCTCTGCAGGGGTAC -3'
Sequencing Primer
(F):5'- TTAGAACACTTGAAAATCCAGAGCAG -3'
(R):5'- TACACTGGCAGCTCGAGAC -3'
|
Posted On |
2015-06-20 |