Incidental Mutation 'R4692:Vcpip1'
ID |
354956 |
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 |
041943-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.455)
|
Stock # |
R4692 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
9788847-9818607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 9818299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 28
(A28E)
|
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: A28E
|
SMART Domains |
Protein: ENSMUSP00000051248 Gene: ENSMUSG00000045210 AA Change: A28E
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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
9230104M06Rik |
A |
T |
12: 112,963,692 (GRCm39) |
|
probably benign |
Het |
Arhgap20 |
A |
G |
9: 51,697,088 (GRCm39) |
D53G |
probably damaging |
Het |
Arl2 |
T |
C |
19: 6,187,776 (GRCm39) |
T54A |
probably damaging |
Het |
Baz2a |
G |
A |
10: 127,960,762 (GRCm39) |
G1521S |
probably damaging |
Het |
Begain |
A |
G |
12: 108,999,818 (GRCm39) |
S523P |
probably damaging |
Het |
Car10 |
T |
C |
11: 93,075,984 (GRCm39) |
|
probably null |
Het |
Cenpe |
A |
G |
3: 134,922,140 (GRCm39) |
I66V |
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,286,864 (GRCm39) |
V895E |
unknown |
Het |
Coro1b |
T |
C |
19: 4,199,418 (GRCm39) |
Y26H |
probably damaging |
Het |
Crebbp |
T |
C |
16: 3,932,727 (GRCm39) |
E1017G |
possibly damaging |
Het |
Cwf19l2 |
T |
C |
9: 3,428,709 (GRCm39) |
S232P |
probably damaging |
Het |
Cyp7b1 |
T |
A |
3: 18,126,728 (GRCm39) |
I473F |
probably damaging |
Het |
Efcab5 |
A |
T |
11: 77,004,507 (GRCm39) |
I937N |
probably damaging |
Het |
Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
Igkv2-137 |
T |
C |
6: 67,532,971 (GRCm39) |
S45P |
possibly damaging |
Het |
Katnip |
T |
C |
7: 125,466,841 (GRCm39) |
|
probably null |
Het |
Kif13b |
C |
A |
14: 65,041,024 (GRCm39) |
T1704K |
probably benign |
Het |
Mapk7 |
A |
G |
11: 61,380,068 (GRCm39) |
S697P |
possibly damaging |
Het |
Mrgpra1 |
T |
A |
7: 46,985,446 (GRCm39) |
I78F |
probably damaging |
Het |
N6amt1 |
T |
C |
16: 87,153,854 (GRCm39) |
V97A |
possibly damaging |
Het |
Oas3 |
T |
C |
5: 120,907,420 (GRCm39) |
T406A |
probably benign |
Het |
Or4f61 |
A |
G |
2: 111,923,026 (GRCm39) |
S7P |
probably damaging |
Het |
Or8c17 |
C |
T |
9: 38,179,826 (GRCm39) |
Q6* |
probably null |
Het |
Paxip1 |
T |
C |
5: 27,977,095 (GRCm39) |
|
probably benign |
Het |
Pfn4 |
A |
T |
12: 4,824,486 (GRCm39) |
Y71F |
probably damaging |
Het |
Plin4 |
C |
A |
17: 56,410,762 (GRCm39) |
G1090C |
probably damaging |
Het |
Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,849,047 (GRCm39) |
D1084E |
probably damaging |
Het |
Robo1 |
T |
G |
16: 72,757,090 (GRCm39) |
S350R |
probably damaging |
Het |
Sbno2 |
A |
G |
10: 79,922,161 (GRCm39) |
V4A |
possibly damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,806,888 (GRCm39) |
|
probably null |
Het |
Smgc |
T |
C |
15: 91,738,764 (GRCm39) |
V474A |
possibly damaging |
Het |
Snx13 |
A |
G |
12: 35,136,917 (GRCm39) |
D126G |
possibly damaging |
Het |
Sox9 |
C |
A |
11: 112,673,803 (GRCm39) |
H131Q |
probably benign |
Het |
Spag6 |
T |
C |
2: 18,704,054 (GRCm39) |
I34T |
probably benign |
Het |
Speer2 |
T |
A |
16: 69,654,860 (GRCm39) |
T202S |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,459,621 (GRCm39) |
C3327S |
probably damaging |
Het |
Vstm5 |
A |
T |
9: 15,168,718 (GRCm39) |
D94V |
probably damaging |
Het |
Zfp329 |
T |
C |
7: 12,544,559 (GRCm39) |
K322E |
probably damaging |
Het |
Zfp932 |
G |
A |
5: 110,157,052 (GRCm39) |
G250D |
probably damaging |
Het |
Zscan26 |
A |
G |
13: 21,629,427 (GRCm39) |
C359R |
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 |
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'- AGATTGTGCAGCACTACGTC -3'
(R):5'- GAAAAGGAAAGCCATTCGCC -3'
Sequencing Primer
(F):5'- AGCACTACGTCCGGGTC -3'
(R):5'- AAAGCCATTCGCCCTGGG -3'
|
Posted On |
2015-10-21 |