Incidental Mutation 'R0968:Vcpip1'
| ID |
83932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vcpip1
|
| Ensembl Gene |
ENSMUSG00000045210 |
| Gene Name |
valosin containing protein (p97)/p47 complex interacting protein 1 |
| Synonyms |
5730538E15Rik, Vcip135, 5730421J18Rik |
| MMRRC Submission |
039097-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.492)
|
| Stock # |
R0968 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9788847-9818607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9816604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 593
(I593N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057438]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057438
AA Change: I593N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051248
Gene: ENSMUSG00000045210
AA Change: I593N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
|
Pfam:OTU
|
213 |
354 |
3.3e-15 |
PFAM |
|
low complexity region
|
754 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
1001 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1161 |
1173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181821
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209020
|
| Meta Mutation Damage Score |
0.3022 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.0%
- 20x: 96.7%
|
| Validation Efficiency |
94% (34/36) |
| MGI Phenotype |
FUNCTION: This gene encodes a deubiquitinating enzyme that interacts with valosin containing protein p97 and plays a role in the assembly of Golgi apparatus during mitosis. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,967 (GRCm39) |
V719M |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,248,016 (GRCm39) |
S2588G |
probably benign |
Het |
| Acaca |
C |
T |
11: 84,129,859 (GRCm39) |
Q405* |
probably null |
Het |
| Brms1l |
G |
A |
12: 55,912,798 (GRCm39) |
D264N |
possibly damaging |
Het |
| Cabcoco1 |
T |
C |
10: 68,272,202 (GRCm39) |
M254V |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
G |
C |
16: 4,487,919 (GRCm39) |
|
probably benign |
Het |
| Cylc2 |
A |
G |
4: 51,216,706 (GRCm39) |
M1V |
probably null |
Het |
| Cyp3a11 |
G |
A |
5: 145,799,324 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,906,641 (GRCm39) |
T4224M |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,339,345 (GRCm39) |
E3054G |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 161,847,388 (GRCm39) |
|
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
| Fgf12 |
T |
C |
16: 27,981,185 (GRCm39) |
N177S |
probably null |
Het |
| Flt3 |
C |
T |
5: 147,278,037 (GRCm39) |
V846I |
possibly damaging |
Het |
| Gm11569 |
A |
T |
11: 99,689,250 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
A |
C |
4: 96,650,303 (GRCm39) |
V181G |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Lars1 |
C |
A |
18: 42,351,648 (GRCm39) |
R852L |
probably benign |
Het |
| Lca5 |
T |
C |
9: 83,305,222 (GRCm39) |
T195A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,742,426 (GRCm39) |
D14N |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,395,487 (GRCm39) |
S327P |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,169,249 (GRCm39) |
F397L |
probably damaging |
Het |
| Mtus2 |
T |
C |
5: 148,014,994 (GRCm39) |
S596P |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,359,770 (GRCm39) |
T401A |
probably benign |
Het |
| Pde6a |
A |
T |
18: 61,386,809 (GRCm39) |
E395D |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,357,243 (GRCm39) |
V743A |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,502,108 (GRCm39) |
D80E |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,415,575 (GRCm39) |
C1846S |
probably benign |
Het |
| Shbg |
A |
G |
11: 69,508,014 (GRCm39) |
L117P |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Supt20 |
A |
G |
3: 54,615,821 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vcpip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02341:Vcpip1
|
APN |
1 |
9,795,175 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02888:Vcpip1
|
APN |
1 |
9,795,011 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03246:Vcpip1
|
APN |
1 |
9,816,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0243:Vcpip1
|
UTSW |
1 |
9,817,431 (GRCm39) |
nonsense |
probably null |
|
|
R1139:Vcpip1
|
UTSW |
1 |
9,816,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1230:Vcpip1
|
UTSW |
1 |
9,795,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1524:Vcpip1
|
UTSW |
1 |
9,794,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Vcpip1
|
UTSW |
1 |
9,815,788 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2135:Vcpip1
|
UTSW |
1 |
9,818,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2299:Vcpip1
|
UTSW |
1 |
9,815,944 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4692:Vcpip1
|
UTSW |
1 |
9,818,299 (GRCm39) |
missense |
unknown |
|
|
R4855:Vcpip1
|
UTSW |
1 |
9,817,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Vcpip1
|
UTSW |
1 |
9,817,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4891:Vcpip1
|
UTSW |
1 |
9,818,287 (GRCm39) |
missense |
unknown |
|
|
R4897:Vcpip1
|
UTSW |
1 |
9,817,572 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5141:Vcpip1
|
UTSW |
1 |
9,818,302 (GRCm39) |
missense |
unknown |
|
|
R5465:Vcpip1
|
UTSW |
1 |
9,817,372 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5651:Vcpip1
|
UTSW |
1 |
9,818,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5664:Vcpip1
|
UTSW |
1 |
9,816,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6131:Vcpip1
|
UTSW |
1 |
9,817,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6187:Vcpip1
|
UTSW |
1 |
9,795,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Vcpip1
|
UTSW |
1 |
9,818,378 (GRCm39) |
missense |
unknown |
|
|
R7268:Vcpip1
|
UTSW |
1 |
9,816,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7417:Vcpip1
|
UTSW |
1 |
9,816,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7464:Vcpip1
|
UTSW |
1 |
9,816,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8138:Vcpip1
|
UTSW |
1 |
9,818,334 (GRCm39) |
small deletion |
probably benign |
|
|
R8350:Vcpip1
|
UTSW |
1 |
9,794,831 (GRCm39) |
missense |
probably benign |
|
|
R8450:Vcpip1
|
UTSW |
1 |
9,794,831 (GRCm39) |
missense |
probably benign |
|
|
R9310:Vcpip1
|
UTSW |
1 |
9,817,927 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9359:Vcpip1
|
UTSW |
1 |
9,816,049 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9403:Vcpip1
|
UTSW |
1 |
9,816,049 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9404:Vcpip1
|
UTSW |
1 |
9,817,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Vcpip1
|
UTSW |
1 |
9,817,456 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9572:Vcpip1
|
UTSW |
1 |
9,816,770 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9598:Vcpip1
|
UTSW |
1 |
9,816,019 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9716:Vcpip1
|
UTSW |
1 |
9,815,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Vcpip1
|
UTSW |
1 |
9,817,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACTCTCTGAGCATGAGCACCATC -3'
(R):5'- GGCAGTAATGGACAATCGCCTTCAC -3'
Sequencing Primer
(F):5'- ATTTACAGGAGTGTAATCGTCCG -3'
(R):5'- CTGCTACCAGACTATGGATTGAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation