Incidental Mutation 'IGL02128:Vcl'
ID280948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vcl
Ensembl Gene ENSMUSG00000021823
Gene Namevinculin
Synonymsmetavinculin
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02128
Quality Score
Status
Chromosome14
Chromosomal Location20929398-21033676 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21020577 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 744 (I744V)
Ref Sequence ENSEMBL: ENSMUSP00000022369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022369]
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: 32,687,327 probably benign Het
Bard1 T C 1: 71,075,228 K198R possibly damaging Het
Brca1 A G 11: 101,530,982 probably benign Het
Col6a5 T C 9: 105,939,894 E406G unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cxcr2 A G 1: 74,158,994 T216A probably benign Het
Dnah7a C T 1: 53,437,513 S3424N probably damaging Het
Gm17660 A G 5: 104,074,703 probably null Het
Golgb1 T G 16: 36,916,304 L1971R probably damaging Het
Hspg2 T G 4: 137,564,016 C3892W probably damaging Het
Jmjd1c T C 10: 67,243,869 L2214P probably damaging Het
Klkb1 A T 8: 45,287,031 F75I probably damaging Het
Loxl3 T A 6: 83,050,583 V702E probably damaging Het
Pcdh18 T A 3: 49,756,686 N60I possibly damaging Het
Pex5 A T 6: 124,398,460 N534K probably damaging Het
Ppp1r16a T A 15: 76,693,978 L383Q probably benign Het
Rp1 A G 1: 4,347,385 V1168A probably damaging Het
Slc2a2 A G 3: 28,719,401 E285G probably damaging Het
Stab1 T A 14: 31,150,441 N1171I probably damaging Het
Other mutations in Vcl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Vcl APN 14 20987003 missense probably benign 0.00
IGL01755:Vcl APN 14 20995970 missense probably damaging 0.99
IGL01994:Vcl APN 14 21003243 missense probably damaging 1.00
IGL02168:Vcl APN 14 21007287 missense probably benign 0.21
IGL02502:Vcl APN 14 21019385 missense probably damaging 1.00
IGL02574:Vcl APN 14 20929575 nonsense probably null
IGL03103:Vcl APN 14 21024280 missense probably damaging 1.00
IGL03046:Vcl UTSW 14 21022017 missense possibly damaging 0.52
R0137:Vcl UTSW 14 20987015 nonsense probably null
R0320:Vcl UTSW 14 20985624 splice site probably benign
R1442:Vcl UTSW 14 20983378 missense probably damaging 1.00
R1546:Vcl UTSW 14 21008950 missense probably damaging 1.00
R1692:Vcl UTSW 14 21024182 missense probably damaging 0.99
R1709:Vcl UTSW 14 21019373 missense probably benign 0.03
R1737:Vcl UTSW 14 21020536 missense probably damaging 1.00
R1848:Vcl UTSW 14 21008995 missense probably benign 0.03
R1902:Vcl UTSW 14 20982699 missense probably damaging 1.00
R4623:Vcl UTSW 14 21014939 missense probably benign 0.33
R4654:Vcl UTSW 14 20985752 splice site probably null
R5084:Vcl UTSW 14 21008959 missense possibly damaging 0.54
R5168:Vcl UTSW 14 21010102 missense probably damaging 1.00
R5275:Vcl UTSW 14 21010078 missense probably damaging 1.00
R6637:Vcl UTSW 14 21003132 missense probably damaging 1.00
R6859:Vcl UTSW 14 20987075 missense probably damaging 1.00
R7348:Vcl UTSW 14 21003150 missense probably benign
R7348:Vcl UTSW 14 21008952 nonsense probably null
R7532:Vcl UTSW 14 21029324 missense probably damaging 1.00
R7630:Vcl UTSW 14 20983402 nonsense probably null
R7650:Vcl UTSW 14 20995046 missense probably damaging 1.00
R7812:Vcl UTSW 14 20995090 missense probably benign 0.02
R8143:Vcl UTSW 14 20987044 missense possibly damaging 0.91
X0028:Vcl UTSW 14 20985662 nonsense probably null
X0060:Vcl UTSW 14 21020776 missense probably benign 0.17
Posted On2015-04-16