Incidental Mutation 'IGL02128:Vcl'
ID 280948
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 # IGL02128
Quality Score
Status
Chromosome 14
Chromosomal Location 20979466-21083744 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21070645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 744 (I744V)
Ref Sequence ENSEMBL: ENSMUSP00000022369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022369]
AlphaFold Q64727
Predicted Effect probably benign
Transcript: ENSMUST00000022369
AA Change: I744V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823
AA Change: I744V

DomainStartEndE-ValueType
Pfam:Vinculin 3 485 9e-203 PFAM
Pfam:Vinculin 475 1066 1.7e-301 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224380
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad1 A T 19: 32,664,727 (GRCm39) probably benign Het
Bard1 T C 1: 71,114,387 (GRCm39) K198R possibly damaging Het
Brca1 A G 11: 101,421,808 (GRCm39) probably benign Het
Col6a5 T C 9: 105,817,093 (GRCm39) E406G unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cxcr2 A G 1: 74,198,153 (GRCm39) T216A probably benign Het
Dnah7a C T 1: 53,476,672 (GRCm39) S3424N probably damaging Het
Golgb1 T G 16: 36,736,666 (GRCm39) L1971R probably damaging Het
Hspg2 T G 4: 137,291,327 (GRCm39) C3892W probably damaging Het
Jmjd1c T C 10: 67,079,648 (GRCm39) L2214P probably damaging Het
Klkb1 A T 8: 45,740,068 (GRCm39) F75I probably damaging Het
Loxl3 T A 6: 83,027,564 (GRCm39) V702E probably damaging Het
Pcdh18 T A 3: 49,711,135 (GRCm39) N60I possibly damaging Het
Pex5 A T 6: 124,375,419 (GRCm39) N534K probably damaging Het
Ppp1r16a T A 15: 76,578,178 (GRCm39) L383Q probably benign Het
Rp1 A G 1: 4,417,608 (GRCm39) V1168A probably damaging Het
Scpppq1 A G 5: 104,222,569 (GRCm39) probably null Het
Slc2a2 A G 3: 28,773,550 (GRCm39) E285G probably damaging Het
Stab1 T A 14: 30,872,398 (GRCm39) N1171I probably damaging Het
Other mutations in Vcl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16