Incidental Mutation 'R8373:Vinac1'
| ID |
646530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vinac1
|
| Ensembl Gene |
ENSMUSG00000079051 |
| Gene Name |
vinculin/alpha-catenin family member 1 |
| Synonyms |
Gm14025 |
| MMRRC Submission |
067741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R8373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128866993-128890092 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128880091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 612
(I612F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000145798]
|
| AlphaFold |
A2AP89 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123404
Gene: ENSMUSG00000079051
AA Change: I612F
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
C |
10: 14,343,078 (GRCm39) |
T290A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,291,094 (GRCm39) |
Q685* |
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,823,816 (GRCm39) |
M150T |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,203,731 (GRCm39) |
Y65C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,409,152 (GRCm39) |
V222A |
probably benign |
Het |
| Bcar1 |
A |
T |
8: 112,442,370 (GRCm39) |
Y228* |
probably null |
Het |
| Cct2 |
T |
C |
10: 116,896,729 (GRCm39) |
D158G |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,491,997 (GRCm39) |
C426S |
possibly damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,671 (GRCm39) |
L297M |
possibly damaging |
Het |
| Dpp10 |
A |
G |
1: 123,781,958 (GRCm39) |
S74P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,716 (GRCm39) |
Y98H |
possibly damaging |
Het |
| Epn3 |
T |
G |
11: 94,383,762 (GRCm39) |
D296A |
probably damaging |
Het |
| Eri2 |
A |
C |
7: 119,371,820 (GRCm39) |
I252S |
probably benign |
Het |
| Gp9 |
C |
T |
6: 87,755,994 (GRCm39) |
T3I |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,432 (GRCm39) |
V55E |
|
Het |
| Kif3c |
G |
T |
12: 3,416,089 (GRCm39) |
V37L |
probably benign |
Het |
| Lct |
A |
T |
1: 128,231,577 (GRCm39) |
N757K |
probably damaging |
Het |
| Lhx8 |
A |
C |
3: 154,030,295 (GRCm39) |
N112K |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,025,872 (GRCm39) |
S373R |
possibly damaging |
Het |
| Mettl4 |
G |
A |
17: 95,041,077 (GRCm39) |
T359I |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,444,096 (GRCm39) |
S109P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,954,032 (GRCm39) |
V840A |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,898,893 (GRCm39) |
L571Q |
probably damaging |
Het |
| Or13a18 |
A |
T |
7: 140,190,208 (GRCm39) |
Y35F |
possibly damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,280 (GRCm39) |
F103S |
probably damaging |
Het |
| Phgdh |
G |
A |
3: 98,228,561 (GRCm39) |
T204I |
probably damaging |
Het |
| Pla2g4d |
C |
T |
2: 120,107,980 (GRCm39) |
V310M |
probably null |
Het |
| Prss3b |
T |
G |
6: 41,008,622 (GRCm39) |
T231P |
possibly damaging |
Het |
| Psmd12 |
C |
T |
11: 107,388,450 (GRCm39) |
P421L |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,688,982 (GRCm39) |
Y432H |
probably damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
| Rilpl2 |
C |
A |
5: 124,616,097 (GRCm39) |
A18S |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,512,815 (GRCm39) |
R88G |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,660,059 (GRCm39) |
K85E |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,773,488 (GRCm39) |
S49R |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,734,560 (GRCm39) |
T160A |
probably damaging |
Het |
| Zfp704 |
G |
A |
3: 9,674,502 (GRCm39) |
T93M |
unknown |
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 |
|
|
|
R7688:Vinac1
|
UTSW |
2 |
128,880,964 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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'- AGTGACACCTTTGCTGACAGC -3'
(R):5'- AGTCGTGGTTCAACAGCTGG -3'
Sequencing Primer
(F):5'- AATCTCCACCCATGTATGCAGGTG -3'
(R):5'- TGGCACAGTCTTCCGTGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation