Incidental Mutation 'R6131:Vcpip1'
ID |
487115 |
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 |
044278-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.492)
|
Stock # |
R6131 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
9788847-9818607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9817517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 289
(I289V)
|
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: I289V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000051248 Gene: ENSMUSG00000045210 AA Change: I289V
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 |
0.1521 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
96% (50/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,844,793 (GRCm39) |
W75R |
probably damaging |
Het |
Aadacl2fm3 |
A |
G |
3: 59,776,324 (GRCm39) |
K165R |
possibly damaging |
Het |
Abca15 |
T |
C |
7: 119,939,428 (GRCm39) |
V274A |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
Apob |
T |
C |
12: 8,065,874 (GRCm39) |
S405P |
probably benign |
Het |
Arhgap26 |
G |
T |
18: 39,419,638 (GRCm39) |
G533* |
probably null |
Het |
Atxn2l |
T |
C |
7: 126,102,337 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,907,387 (GRCm39) |
L995H |
probably damaging |
Het |
Ccn3 |
A |
G |
15: 54,612,756 (GRCm39) |
D255G |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,971,068 (GRCm39) |
H1023R |
possibly damaging |
Het |
Cog5 |
T |
A |
12: 31,936,220 (GRCm39) |
M589K |
possibly damaging |
Het |
Col25a1 |
C |
A |
3: 130,329,114 (GRCm39) |
P337Q |
probably damaging |
Het |
Cyfip1 |
T |
G |
7: 55,523,228 (GRCm39) |
V51G |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,292,626 (GRCm39) |
I3004F |
probably damaging |
Het |
Dsg3 |
A |
T |
18: 20,671,569 (GRCm39) |
D758V |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,653,534 (GRCm39) |
|
probably null |
Het |
Eml5 |
A |
T |
12: 98,827,510 (GRCm39) |
H573Q |
probably damaging |
Het |
Erp27 |
T |
C |
6: 136,885,201 (GRCm39) |
D199G |
probably damaging |
Het |
Flnb |
A |
G |
14: 7,894,635 (GRCm38) |
Y811C |
possibly damaging |
Het |
G6pd2 |
A |
T |
5: 61,966,593 (GRCm39) |
S123C |
probably benign |
Het |
Gm1818 |
T |
A |
12: 48,602,319 (GRCm39) |
|
noncoding transcript |
Het |
Gm29340 |
C |
T |
2: 116,798,519 (GRCm39) |
|
noncoding transcript |
Het |
H2bc7 |
C |
A |
13: 23,758,310 (GRCm39) |
|
probably benign |
Het |
Hcn2 |
G |
T |
10: 79,569,742 (GRCm39) |
G581W |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,042,313 (GRCm39) |
|
probably null |
Het |
Lonp1 |
T |
C |
17: 56,921,457 (GRCm39) |
E926G |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,396,026 (GRCm39) |
I2415V |
probably benign |
Het |
Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
Mmp10 |
A |
G |
9: 7,503,633 (GRCm39) |
|
probably null |
Het |
Myo16 |
T |
A |
8: 10,619,877 (GRCm39) |
I1476N |
probably benign |
Het |
Nectin3 |
G |
T |
16: 46,215,515 (GRCm39) |
H76N |
probably damaging |
Het |
Nphs2 |
G |
A |
1: 156,153,521 (GRCm39) |
R204Q |
probably damaging |
Het |
Or5ac15 |
T |
C |
16: 58,940,256 (GRCm39) |
Y59C |
probably damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8b53 |
T |
A |
9: 38,667,362 (GRCm39) |
I126N |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Pate10 |
T |
A |
9: 35,652,840 (GRCm39) |
C27* |
probably null |
Het |
Psme2b |
T |
C |
11: 48,836,752 (GRCm39) |
D65G |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,012,172 (GRCm39) |
K214E |
probably damaging |
Het |
Rnasel |
A |
T |
1: 153,630,206 (GRCm39) |
T241S |
probably damaging |
Het |
Samd9l |
C |
G |
6: 3,377,252 (GRCm39) |
G3A |
probably benign |
Het |
Smg7 |
A |
G |
1: 152,720,962 (GRCm39) |
|
probably null |
Het |
Spag16 |
A |
G |
1: 70,764,242 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
T |
A |
13: 65,183,485 (GRCm39) |
D342E |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,719,642 (GRCm39) |
|
probably null |
Het |
Taar7b |
A |
T |
10: 23,876,615 (GRCm39) |
Y260F |
probably benign |
Het |
Vmn2r130 |
C |
T |
17: 23,282,629 (GRCm39) |
A103V |
probably benign |
Het |
Vmn2r39 |
A |
G |
7: 9,017,963 (GRCm39) |
V791A |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,644,224 (GRCm39) |
I729F |
probably damaging |
Het |
Zfp536 |
T |
A |
7: 37,269,137 (GRCm39) |
D93V |
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 |
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 |
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'- CGCAATACAGATTGGCTTGTTC -3'
(R):5'- ATCCCAGTGCATGTGGATGG -3'
Sequencing Primer
(F):5'- CAGATTGGCTTGTTCAAATGACC -3'
(R):5'- TCTAGTAGGCCGAGAGCTCTTC -3'
|
Posted On |
2017-10-10 |