Incidental Mutation 'R4891:Vcpip1'
ID |
377292 |
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 |
042496-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.492)
|
Stock # |
R4891 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
9788847-9818607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 9818287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 32
(P32Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051248
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057438]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000057438
AA Change: P32Q
|
SMART Domains |
Protein: ENSMUSP00000051248 Gene: ENSMUSG00000045210 AA Change: P32Q
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 |
0.0869 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
100% (39/39) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
G |
18: 59,166,072 (GRCm39) |
Y1088C |
probably damaging |
Het |
Cercam |
C |
A |
2: 29,759,283 (GRCm39) |
|
probably benign |
Het |
Chst1 |
A |
G |
2: 92,444,337 (GRCm39) |
T270A |
possibly damaging |
Het |
Cluh |
C |
T |
11: 74,555,885 (GRCm39) |
T816I |
possibly damaging |
Het |
Edn3 |
A |
G |
2: 174,603,525 (GRCm39) |
H91R |
probably benign |
Het |
Fam135a |
A |
G |
1: 24,069,409 (GRCm39) |
S487P |
probably benign |
Het |
Galns |
T |
A |
8: 123,325,895 (GRCm39) |
D212V |
possibly damaging |
Het |
Grin2a |
A |
G |
16: 9,475,570 (GRCm39) |
V582A |
possibly damaging |
Het |
Hs3st4 |
T |
A |
7: 123,996,052 (GRCm39) |
N239K |
possibly damaging |
Het |
Kmt2b |
C |
T |
7: 30,276,186 (GRCm39) |
W1062* |
probably null |
Het |
Lrp1 |
T |
C |
10: 127,377,621 (GRCm39) |
N4110S |
probably damaging |
Het |
Mag |
T |
C |
7: 30,599,793 (GRCm39) |
H582R |
possibly damaging |
Het |
Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
Ndufa5 |
A |
G |
6: 24,519,246 (GRCm39) |
V26A |
possibly damaging |
Het |
Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
Or13j1 |
C |
T |
4: 43,706,194 (GRCm39) |
A125T |
probably damaging |
Het |
Or51g2 |
T |
A |
7: 102,622,759 (GRCm39) |
I147L |
probably benign |
Het |
Or5ac24 |
T |
A |
16: 59,165,834 (GRCm39) |
T77S |
possibly damaging |
Het |
Plxdc2 |
A |
G |
2: 16,716,957 (GRCm39) |
H347R |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 117,196,985 (GRCm39) |
|
probably null |
Het |
Rab3gap2 |
C |
T |
1: 184,991,563 (GRCm39) |
A683V |
probably benign |
Het |
Rnf157 |
A |
G |
11: 116,249,496 (GRCm39) |
V240A |
probably damaging |
Het |
Slc10a5 |
A |
T |
3: 10,399,685 (GRCm39) |
V325E |
possibly damaging |
Het |
Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
C |
T |
19: 4,788,497 (GRCm39) |
R1159C |
probably damaging |
Het |
Stk36 |
A |
G |
1: 74,642,415 (GRCm39) |
D14G |
probably damaging |
Het |
Thap2 |
T |
C |
10: 115,208,601 (GRCm39) |
K173R |
probably damaging |
Het |
Themis2 |
G |
T |
4: 132,510,668 (GRCm39) |
Q625K |
probably benign |
Het |
Vmn1r229 |
A |
T |
17: 21,035,081 (GRCm39) |
T109S |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,640,661 (GRCm39) |
|
probably null |
Het |
Wdr64 |
A |
G |
1: 175,526,345 (GRCm39) |
|
probably benign |
Het |
Wiz |
A |
G |
17: 32,576,602 (GRCm39) |
S642P |
possibly damaging |
Het |
Zdhhc1 |
C |
T |
8: 106,199,649 (GRCm39) |
R383Q |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,060,055 (GRCm39) |
S1194P |
probably 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 |
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 |
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'- CAGATTGTGCAGCACTACGTCC -3'
(R):5'- GAAAAGGAAAGCCATTCGCC -3'
Sequencing Primer
(F):5'- AGCACTACGTCCGGGTC -3'
(R):5'- AAAGCCATTCGCCCTGGG -3'
|
Posted On |
2016-03-17 |