Incidental Mutation 'IGL01318:Vinac1'
| ID |
73948 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vinac1
|
| Ensembl Gene |
ENSMUSG00000079051 |
| Gene Name |
vinculin/alpha-catenin family member 1 |
| Synonyms |
Gm14025 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL01318
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
128866993-128890092 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 128880622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 435
(V435L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000145798]
|
| AlphaFold |
A2AP89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145798
AA Change: V435L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000123404
Gene: ENSMUSG00000079051
AA Change: V435L
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
T |
C |
15: 90,112,592 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,608,554 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,297,296 (GRCm39) |
D585G |
probably null |
Het |
| Chaf1a |
G |
T |
17: 56,366,336 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,854,008 (GRCm39) |
S443P |
probably damaging |
Het |
| Dlk2 |
A |
G |
17: 46,613,390 (GRCm39) |
E215G |
probably damaging |
Het |
| Efhd2 |
T |
C |
4: 141,587,176 (GRCm39) |
N202S |
probably benign |
Het |
| Gkap1 |
A |
T |
13: 58,384,853 (GRCm39) |
I308K |
probably damaging |
Het |
| Gm9848 |
T |
A |
13: 113,244,774 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
G |
A |
1: 150,594,991 (GRCm39) |
T1826I |
probably damaging |
Het |
| Htr5a |
T |
C |
5: 28,047,742 (GRCm39) |
V99A |
probably benign |
Het |
| Inha |
T |
G |
1: 75,486,572 (GRCm39) |
F289C |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,945,294 (GRCm39) |
V519A |
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,364,390 (GRCm39) |
|
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,747 (GRCm39) |
V292A |
possibly damaging |
Het |
| Magea13 |
T |
A |
X: 57,964,829 (GRCm39) |
I196N |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,647,089 (GRCm39) |
|
probably benign |
Het |
| Mfap2 |
G |
T |
4: 140,742,856 (GRCm39) |
A175S |
possibly damaging |
Het |
| Milr1 |
G |
A |
11: 106,656,071 (GRCm39) |
A114T |
possibly damaging |
Het |
| Mogs |
G |
T |
6: 83,095,558 (GRCm39) |
V792F |
probably damaging |
Het |
| Nt5dc3 |
T |
A |
10: 86,661,089 (GRCm39) |
M418K |
possibly damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,490 (GRCm39) |
L61P |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,832,054 (GRCm39) |
E183G |
probably benign |
Het |
| Or8h8 |
A |
T |
2: 86,753,293 (GRCm39) |
N194K |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,061,190 (GRCm39) |
W756* |
probably null |
Het |
| Pgam5 |
A |
G |
5: 110,413,391 (GRCm39) |
Y235H |
probably damaging |
Het |
| Pgm5 |
G |
T |
19: 24,793,842 (GRCm39) |
A274E |
probably damaging |
Het |
| Prex1 |
C |
A |
2: 166,411,260 (GRCm39) |
|
probably benign |
Het |
| Prps1l1 |
A |
T |
12: 35,035,377 (GRCm39) |
N164I |
probably benign |
Het |
| Ralbp1 |
C |
A |
17: 66,171,277 (GRCm39) |
R232L |
probably damaging |
Het |
| Rnaseh2a |
C |
T |
8: 85,691,752 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,529,200 (GRCm39) |
H1819L |
possibly damaging |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,625,067 (GRCm39) |
S946A |
possibly damaging |
Het |
| Tph1 |
T |
G |
7: 46,314,662 (GRCm39) |
T22P |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,904 (GRCm39) |
I212T |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,546,550 (GRCm39) |
I3442T |
probably benign |
Het |
| Vmn2r113 |
A |
G |
17: 23,177,309 (GRCm39) |
I698V |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,774 (GRCm39) |
I240V |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,125,585 (GRCm39) |
T432A |
probably damaging |
Het |
|
| Other mutations in Vinac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation