Incidental Mutation 'R1139:Vcpip1'
ID |
95333 |
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 |
039212-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.455)
|
Stock # |
R1139 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
9788847-9818607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 9816948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 478
(H478Q)
|
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: H478Q
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000051248 Gene: ENSMUSG00000045210 AA Change: H478Q
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
G |
A |
11: 58,179,112 (GRCm39) |
V149M |
probably damaging |
Het |
Abcc4 |
A |
G |
14: 118,738,252 (GRCm39) |
M1166T |
possibly damaging |
Het |
Adgra3 |
A |
T |
5: 50,119,097 (GRCm39) |
|
probably null |
Het |
Alox12b |
A |
T |
11: 69,055,231 (GRCm39) |
Q334L |
probably damaging |
Het |
Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
Bod1l |
A |
T |
5: 41,988,814 (GRCm39) |
M431K |
possibly damaging |
Het |
Ckap5 |
A |
G |
2: 91,411,488 (GRCm39) |
N966D |
probably benign |
Het |
Csmd3 |
C |
G |
15: 47,559,232 (GRCm39) |
D2240H |
probably damaging |
Het |
Erbin |
A |
G |
13: 104,020,761 (GRCm39) |
F66S |
probably damaging |
Het |
Mrgprh |
A |
T |
17: 13,095,829 (GRCm39) |
N23I |
probably benign |
Het |
Mst1r |
G |
T |
9: 107,797,168 (GRCm39) |
D1346Y |
possibly damaging |
Het |
Nfe2l2 |
A |
G |
2: 75,507,230 (GRCm39) |
M290T |
probably benign |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Or52n20 |
A |
G |
7: 104,320,098 (GRCm39) |
Y63C |
probably damaging |
Het |
Or56a3b |
A |
G |
7: 104,771,180 (GRCm39) |
Y172C |
probably damaging |
Het |
Or9k7 |
T |
C |
10: 130,046,948 (GRCm39) |
H17R |
possibly damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Rpgrip1 |
A |
C |
14: 52,384,678 (GRCm39) |
E757D |
probably benign |
Het |
Scn9a |
T |
G |
2: 66,335,341 (GRCm39) |
K1207T |
probably benign |
Het |
Spata31e2 |
T |
G |
1: 26,721,746 (GRCm39) |
I1145L |
probably benign |
Het |
Ssb |
A |
G |
2: 69,696,920 (GRCm39) |
T87A |
possibly damaging |
Het |
Tfdp1 |
C |
T |
8: 13,423,000 (GRCm39) |
R302C |
probably benign |
Het |
Thbs4 |
T |
C |
13: 92,911,226 (GRCm39) |
Y319C |
probably damaging |
Het |
Tiam2 |
C |
A |
17: 3,527,542 (GRCm39) |
Q67K |
possibly damaging |
Het |
Tox3 |
A |
G |
8: 90,975,497 (GRCm39) |
L378P |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,294,052 (GRCm39) |
I713T |
possibly damaging |
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 |
|
R0968:Vcpip1
|
UTSW |
1 |
9,816,604 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCTGACTCTTCGCACAGATGAGCC -3'
(R):5'- GCGTGGAGTAGCTCTGGTAGAAAC -3'
Sequencing Primer
(F):5'- GGCACCAATTACAAGCTGTTAG -3'
(R):5'- GCTCTGGTAGAAACCATTATATTCCC -3'
|
Posted On |
2014-01-05 |