Incidental Mutation 'IGL01755:Vcl'
ID 153192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vcl
Ensembl Gene ENSMUSG00000021823
Gene Name vinculin
Synonyms metavinculin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01755
Quality Score
Status
Chromosome 14
Chromosomal Location 20979466-21083744 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21046038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 334 (Q334K)
Ref Sequence ENSEMBL: ENSMUSP00000022369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022369]
AlphaFold Q64727
Predicted Effect probably damaging
Transcript: ENSMUST00000022369
AA Change: Q334K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823
AA Change: Q334K

DomainStartEndE-ValueType
Pfam:Vinculin 3 485 9e-203 PFAM
Pfam:Vinculin 475 1066 1.7e-301 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226113
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf6 A G 1: 170,616,180 (GRCm39) I520T possibly damaging Het
Azgp1 A T 5: 137,988,109 (GRCm39) K297M possibly damaging Het
Cyp2e1 A G 7: 140,354,469 (GRCm39) probably null Het
Dapk1 C A 13: 60,908,989 (GRCm39) L1201M probably damaging Het
Dapk1 T A 13: 60,908,990 (GRCm39) L1201Q possibly damaging Het
Insrr A T 3: 87,721,493 (GRCm39) D1133V probably damaging Het
Kcnc4 T C 3: 107,355,491 (GRCm39) N319S probably damaging Het
Kctd1 A G 18: 15,195,694 (GRCm39) C310R possibly damaging Het
Nefl A G 14: 68,323,526 (GRCm39) D384G probably damaging Het
Nfatc3 A G 8: 106,854,553 (GRCm39) N1029S probably benign Het
Nup107 T C 10: 117,610,398 (GRCm39) Y348C probably damaging Het
Or5b117 T C 19: 13,431,179 (GRCm39) K234R probably damaging Het
Or5w8 T A 2: 87,687,854 (GRCm39) C112S possibly damaging Het
Phf8-ps T A 17: 33,285,951 (GRCm39) N284Y probably damaging Het
Phldb2 T C 16: 45,645,945 (GRCm39) E212G probably damaging Het
Pirb A T 7: 3,720,169 (GRCm39) N401K probably benign Het
Plcg2 T C 8: 118,347,980 (GRCm39) F1183S possibly damaging Het
Plekhf2 A T 4: 10,991,308 (GRCm39) N11K probably damaging Het
Slc7a11 A G 3: 50,378,516 (GRCm39) Y241H probably benign Het
Sltm T G 9: 70,491,204 (GRCm39) probably null Het
Taf4b A G 18: 15,031,042 (GRCm39) T809A probably benign Het
Taf4b C A 18: 15,031,043 (GRCm39) T809N probably benign Het
Tesk1 T C 4: 43,445,820 (GRCm39) probably null Het
Tspan8 C T 10: 115,671,203 (GRCm39) T120M probably damaging Het
Ttn T G 2: 76,551,727 (GRCm39) D31275A probably damaging Het
Zfp94 G A 7: 24,010,906 (GRCm39) probably benign Het
Zkscan17 A G 11: 59,378,241 (GRCm39) F314S probably damaging Het
Other mutations in Vcl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Vcl APN 14 21,037,071 (GRCm39) missense probably benign 0.00
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
R6859:Vcl UTSW 14 21,037,143 (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
Posted On 2014-02-04