Incidental Mutation 'R7688:Vinac1'
| ID |
593189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vinac1
|
| Ensembl Gene |
ENSMUSG00000079051 |
| Gene Name |
vinculin/alpha-catenin family member 1 |
| Synonyms |
Gm14025 |
| MMRRC Submission |
045752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128866993-128890092 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 128880964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 321
(Q321*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000145798]
|
| AlphaFold |
A2AP89 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000145798
AA Change: Q321*
|
| SMART Domains |
Protein: ENSMUSP00000123404
Gene: ENSMUSG00000079051
AA Change: Q321*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
14 |
248 |
5.8e-18 |
PFAM |
|
Pfam:Vinculin
|
281 |
619 |
2.1e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bag6 |
T |
C |
17: 35,365,868 (GRCm39) |
Y1102H |
probably damaging |
Het |
| Cldn24 |
G |
A |
8: 48,275,740 (GRCm39) |
C188Y |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,713,377 (GRCm39) |
W443R |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,088,938 (GRCm39) |
C2806S |
probably benign |
Het |
| Epb41l2 |
T |
C |
10: 25,355,036 (GRCm39) |
Y449H |
probably damaging |
Het |
| Ets1 |
T |
A |
9: 32,607,720 (GRCm39) |
I14N |
probably benign |
Het |
| F11 |
A |
T |
8: 45,703,127 (GRCm39) |
F188I |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,912,692 (GRCm39) |
V654I |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,613,135 (GRCm39) |
V369I |
probably benign |
Het |
| Focad |
T |
A |
4: 88,096,370 (GRCm39) |
Y251N |
probably damaging |
Het |
| Gm5150 |
A |
G |
3: 16,017,747 (GRCm39) |
S175P |
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,797,994 (GRCm39) |
S117T |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,234,264 (GRCm39) |
V17A |
probably benign |
Het |
| Kctd1 |
T |
G |
18: 15,107,255 (GRCm39) |
T737P |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,422,392 (GRCm39) |
V894A |
probably damaging |
Het |
| Klhl12 |
A |
T |
1: 134,416,768 (GRCm39) |
T497S |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,765,881 (GRCm39) |
V574L |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,068,623 (GRCm39) |
D774V |
|
Het |
| Leng1 |
G |
A |
7: 3,665,809 (GRCm39) |
P176L |
probably benign |
Het |
| Lig1 |
T |
C |
7: 13,023,389 (GRCm39) |
L196P |
probably benign |
Het |
| Macrod1 |
C |
A |
19: 7,174,230 (GRCm39) |
Y245* |
probably null |
Het |
| Mcf2l |
T |
A |
8: 12,998,130 (GRCm39) |
I6N |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,599,146 (GRCm39) |
D687G |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,278 (GRCm39) |
H446L |
possibly damaging |
Het |
| Oasl2 |
A |
T |
5: 115,035,909 (GRCm39) |
I62F |
probably benign |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or14a257 |
A |
G |
7: 86,138,183 (GRCm39) |
V192A |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,095,959 (GRCm39) |
F272I |
probably damaging |
Het |
| Or52e8 |
C |
A |
7: 104,624,332 (GRCm39) |
A291S |
possibly damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,465,770 (GRCm39) |
N150S |
probably benign |
Het |
| Pfkfb3 |
A |
G |
2: 11,497,450 (GRCm39) |
Y54H |
probably damaging |
Het |
| Rab25 |
A |
T |
3: 88,452,270 (GRCm39) |
|
probably null |
Het |
| Slc22a18 |
G |
A |
7: 143,033,560 (GRCm39) |
G104S |
probably damaging |
Het |
| Slc44a5 |
T |
A |
3: 153,679,437 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
| Spata18 |
A |
G |
5: 73,809,005 (GRCm39) |
N26S |
probably benign |
Het |
| Tas2r115 |
T |
A |
6: 132,714,643 (GRCm39) |
S103C |
probably damaging |
Het |
| Tigd2 |
T |
A |
6: 59,187,382 (GRCm39) |
M83K |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,890,880 (GRCm39) |
C408S |
probably benign |
Het |
| Trbj2-3 |
T |
A |
6: 41,520,159 (GRCm39) |
S1R |
possibly damaging |
Het |
| Triobp |
T |
C |
15: 78,845,311 (GRCm39) |
|
probably null |
Het |
| Uaca |
A |
G |
9: 60,781,409 (GRCm39) |
Q1349R |
probably benign |
Het |
| Ube2j2 |
T |
A |
4: 156,040,885 (GRCm39) |
L171I |
probably damaging |
Het |
| Usp17ld |
C |
A |
7: 102,899,982 (GRCm39) |
G317W |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,404,098 (GRCm39) |
D31V |
probably benign |
Het |
| Zfp317 |
T |
G |
9: 19,559,251 (GRCm39) |
H488Q |
probably damaging |
Het |
|
| Other mutations in Vinac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Vinac1
|
APN |
2 |
128,880,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02423:Vinac1
|
APN |
2 |
128,889,968 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02730:Vinac1
|
APN |
2 |
128,880,646 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
PIT4677001:Vinac1
|
UTSW |
2 |
128,880,636 (GRCm39) |
missense |
|
|
|
R0019:Vinac1
|
UTSW |
2 |
128,880,946 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3946:Vinac1
|
UTSW |
2 |
128,881,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Vinac1
|
UTSW |
2 |
128,880,150 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4819:Vinac1
|
UTSW |
2 |
128,882,721 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5634:Vinac1
|
UTSW |
2 |
128,881,406 (GRCm39) |
missense |
probably benign |
|
|
R6019:Vinac1
|
UTSW |
2 |
128,879,610 (GRCm39) |
missense |
probably benign |
|
|
R6241:Vinac1
|
UTSW |
2 |
128,879,301 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6285:Vinac1
|
UTSW |
2 |
128,879,719 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6377:Vinac1
|
UTSW |
2 |
128,878,731 (GRCm39) |
missense |
unknown |
|
|
R6464:Vinac1
|
UTSW |
2 |
128,881,465 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6724:Vinac1
|
UTSW |
2 |
128,879,976 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7050:Vinac1
|
UTSW |
2 |
128,869,891 (GRCm39) |
splice site |
probably null |
|
|
R7130:Vinac1
|
UTSW |
2 |
128,881,101 (GRCm39) |
missense |
|
|
|
R7199:Vinac1
|
UTSW |
2 |
128,880,238 (GRCm39) |
missense |
|
|
|
R7324:Vinac1
|
UTSW |
2 |
128,879,772 (GRCm39) |
missense |
unknown |
|
|
R7355:Vinac1
|
UTSW |
2 |
128,879,149 (GRCm39) |
missense |
unknown |
|
|
R7407:Vinac1
|
UTSW |
2 |
128,880,729 (GRCm39) |
missense |
|
|
|
R7634:Vinac1
|
UTSW |
2 |
128,880,192 (GRCm39) |
missense |
|
|
|
R7889:Vinac1
|
UTSW |
2 |
128,878,914 (GRCm39) |
missense |
unknown |
|
|
R7894:Vinac1
|
UTSW |
2 |
128,879,049 (GRCm39) |
missense |
unknown |
|
|
R8242:Vinac1
|
UTSW |
2 |
128,881,313 (GRCm39) |
nonsense |
probably null |
|
|
R8373:Vinac1
|
UTSW |
2 |
128,880,091 (GRCm39) |
missense |
|
|
|
R8927:Vinac1
|
UTSW |
2 |
128,882,789 (GRCm39) |
missense |
|
|
|
R8928:Vinac1
|
UTSW |
2 |
128,882,789 (GRCm39) |
missense |
|
|
|
R9231:Vinac1
|
UTSW |
2 |
128,879,340 (GRCm39) |
missense |
unknown |
|
|
R9504:Vinac1
|
UTSW |
2 |
128,881,189 (GRCm39) |
missense |
|
|
|
R9505:Vinac1
|
UTSW |
2 |
128,878,838 (GRCm39) |
missense |
unknown |
|
|
R9608:Vinac1
|
UTSW |
2 |
128,878,550 (GRCm39) |
nonsense |
probably null |
|
|
R9682:Vinac1
|
UTSW |
2 |
128,875,529 (GRCm39) |
missense |
unknown |
|
|
R9760:Vinac1
|
UTSW |
2 |
128,880,499 (GRCm39) |
missense |
|
|
|
RF002:Vinac1
|
UTSW |
2 |
128,880,714 (GRCm39) |
missense |
|
|
|
X0066:Vinac1
|
UTSW |
2 |
128,880,987 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCACAGCGGAACCTGATAGTG -3'
(R):5'- GGAGTGCTCTCTCAGAATGGAG -3'
Sequencing Primer
(F):5'- AACCTGATAGTGGACGTCGC -3'
(R):5'- CTCTCTCAGAATGGAGCATTGGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation