Incidental Mutation 'R6859:Vcl'
| ID |
537819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vcl
|
| Ensembl Gene |
ENSMUSG00000021823 |
| Gene Name |
vinculin |
| Synonyms |
metavinculin |
| MMRRC Submission |
044961-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6859 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20979466-21083744 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21037143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 247
(V247A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022369]
|
| AlphaFold |
Q64727 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022369
AA Change: V247A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
3 |
485 |
9e-203 |
PFAM |
|
Pfam:Vinculin
|
475 |
1066 |
1.7e-301 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die by embryonic day 10 with failed midline fusion of the rostral neural tube, bilobular cranial development and compromised cranial and spinal nerve development. Abnormal myocardial and endocardial structures are seen in the heart. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,669,799 (GRCm39) |
V788A |
possibly damaging |
Het |
| Abca15 |
A |
T |
7: 120,002,217 (GRCm39) |
K1577* |
probably null |
Het |
| Arhgap12 |
T |
C |
18: 6,111,803 (GRCm39) |
E187G |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,025,005 (GRCm39) |
Y398N |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,731,874 (GRCm39) |
V2055I |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,688,353 (GRCm39) |
D475G |
probably damaging |
Het |
| C1qtnf12 |
T |
A |
4: 156,050,070 (GRCm39) |
F190Y |
probably damaging |
Het |
| Cacul1 |
A |
G |
19: 60,522,683 (GRCm39) |
S284P |
probably damaging |
Het |
| Ccdc166 |
C |
A |
15: 75,853,820 (GRCm39) |
V87L |
possibly damaging |
Het |
| Ceacam13 |
C |
T |
7: 17,747,032 (GRCm39) |
P162S |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,834,446 (GRCm39) |
S2124T |
probably benign |
Het |
| Chd5 |
T |
C |
4: 152,462,664 (GRCm39) |
S1372P |
probably damaging |
Het |
| Chil3 |
C |
A |
3: 106,067,730 (GRCm39) |
R145L |
probably benign |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,923 (GRCm39) |
S454P |
probably benign |
Het |
| Defa3 |
T |
A |
8: 21,778,213 (GRCm39) |
C66S |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,349 (GRCm39) |
N260K |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,486,016 (GRCm39) |
L653Q |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,564,255 (GRCm39) |
Y124* |
probably null |
Het |
| Lao1 |
A |
C |
4: 118,820,948 (GRCm39) |
K58T |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,622,487 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
G |
C |
7: 47,239,781 (GRCm39) |
I48M |
probably benign |
Het |
| Nck2 |
T |
G |
1: 43,593,511 (GRCm39) |
N239K |
probably benign |
Het |
| Optc |
A |
T |
1: 133,825,554 (GRCm39) |
V324E |
possibly damaging |
Het |
| Or12k7 |
A |
T |
2: 36,958,794 (GRCm39) |
Y159F |
probably damaging |
Het |
| Or4p8 |
A |
G |
2: 88,727,278 (GRCm39) |
I221T |
probably benign |
Het |
| Or51b6 |
G |
A |
7: 103,555,908 (GRCm39) |
W84* |
probably null |
Het |
| Otog |
T |
C |
7: 45,923,205 (GRCm39) |
S1027P |
probably damaging |
Het |
| Plbd2 |
A |
G |
5: 120,641,407 (GRCm39) |
F84L |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,935,838 (GRCm39) |
L110P |
probably damaging |
Het |
| Prnp |
T |
C |
2: 131,778,708 (GRCm39) |
V120A |
possibly damaging |
Het |
| Ptprh |
C |
A |
7: 4,552,370 (GRCm39) |
E965* |
probably null |
Het |
| Reln |
T |
C |
5: 22,239,568 (GRCm39) |
T900A |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,646,682 (GRCm39) |
Y644H |
probably damaging |
Het |
| Sulf2 |
A |
G |
2: 165,929,039 (GRCm39) |
Y311H |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,056,626 (GRCm39) |
I438N |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,387,937 (GRCm39) |
V356A |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,303,425 (GRCm39) |
N69S |
probably damaging |
Het |
| Topaz1 |
T |
C |
9: 122,631,023 (GRCm39) |
V1618A |
probably benign |
Het |
| Usp48 |
C |
T |
4: 137,352,587 (GRCm39) |
T627I |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,693,277 (GRCm39) |
L441P |
probably damaging |
Het |
| Zfp869 |
C |
T |
8: 70,159,175 (GRCm39) |
G466D |
probably damaging |
Het |
|
| Other mutations in Vcl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Vcl
|
APN |
14 |
21,037,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01755:Vcl
|
APN |
14 |
21,046,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01994:Vcl
|
APN |
14 |
21,053,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02128:Vcl
|
APN |
14 |
21,070,645 (GRCm39) |
missense |
probably benign |
|
|
IGL02168:Vcl
|
APN |
14 |
21,057,355 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02502:Vcl
|
APN |
14 |
21,069,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02574:Vcl
|
APN |
14 |
20,979,643 (GRCm39) |
nonsense |
probably null |
|
|
IGL03103:Vcl
|
APN |
14 |
21,074,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Vcl
|
UTSW |
14 |
21,072,085 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0137:Vcl
|
UTSW |
14 |
21,037,083 (GRCm39) |
nonsense |
probably null |
|
|
R0320:Vcl
|
UTSW |
14 |
21,035,692 (GRCm39) |
splice site |
probably benign |
|
|
R1442:Vcl
|
UTSW |
14 |
21,033,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1546:Vcl
|
UTSW |
14 |
21,059,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Vcl
|
UTSW |
14 |
21,074,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1709:Vcl
|
UTSW |
14 |
21,069,441 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1737:Vcl
|
UTSW |
14 |
21,070,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Vcl
|
UTSW |
14 |
21,059,063 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1902:Vcl
|
UTSW |
14 |
21,032,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Vcl
|
UTSW |
14 |
21,065,007 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4654:Vcl
|
UTSW |
14 |
21,035,820 (GRCm39) |
splice site |
probably null |
|
|
R5084:Vcl
|
UTSW |
14 |
21,059,027 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5168:Vcl
|
UTSW |
14 |
21,060,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5275:Vcl
|
UTSW |
14 |
21,060,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6637:Vcl
|
UTSW |
14 |
21,053,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Vcl
|
UTSW |
14 |
21,059,020 (GRCm39) |
nonsense |
probably null |
|
|
R7348:Vcl
|
UTSW |
14 |
21,053,218 (GRCm39) |
missense |
probably benign |
|
|
R7532:Vcl
|
UTSW |
14 |
21,079,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7630:Vcl
|
UTSW |
14 |
21,033,470 (GRCm39) |
nonsense |
probably null |
|
|
R7650:Vcl
|
UTSW |
14 |
21,045,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7812:Vcl
|
UTSW |
14 |
21,045,158 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8143:Vcl
|
UTSW |
14 |
21,037,112 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8543:Vcl
|
UTSW |
14 |
21,045,127 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8734:Vcl
|
UTSW |
14 |
21,060,236 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8856:Vcl
|
UTSW |
14 |
21,045,160 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9136:Vcl
|
UTSW |
14 |
21,057,344 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9216:Vcl
|
UTSW |
14 |
21,033,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9239:Vcl
|
UTSW |
14 |
21,072,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9481:Vcl
|
UTSW |
14 |
21,070,726 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0028:Vcl
|
UTSW |
14 |
21,035,730 (GRCm39) |
nonsense |
probably null |
|
|
X0060:Vcl
|
UTSW |
14 |
21,070,844 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCACTCAAATGGTCAAAG -3'
(R):5'- AGGCTACACACTTCAGCTTTC -3'
Sequencing Primer
(F):5'- TCAAATGGTCAAAGAGAAATAACCC -3'
(R):5'- ACACACTTCAGCTTTCTACCAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation