Incidental Mutation 'R0137:Vcl'
ID22060
Institutional Source Beutler Lab
Gene Symbol Vcl
Ensembl Gene ENSMUSG00000021823
Gene Namevinculin
Synonymsmetavinculin
MMRRC Submission 038422-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0137 (G1)
Quality Score225
Status Validated (trace)
Chromosome14
Chromosomal Location20929398-21033676 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 20987015 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 227 (L227*)
Ref Sequence ENSEMBL: ENSMUSP00000022369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022369]
Predicted Effect probably null
Transcript: ENSMUST00000022369
AA Change: L227*
SMART Domains Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823
AA Change: L227*

DomainStartEndE-ValueType
Pfam:Vinculin 3 485 9e-203 PFAM
Pfam:Vinculin 475 1066 1.7e-301 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226113
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 95% (94/99)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092M07Rik A G 19: 8,740,857 probably benign Het
4931406P16Rik A T 7: 34,239,219 W246R probably damaging Het
6430548M08Rik A T 8: 120,151,376 H190L possibly damaging Het
Adap1 A G 5: 139,293,221 probably benign Het
Adgra3 C T 5: 49,963,840 probably benign Het
Adgre5 A T 8: 83,724,898 V527E probably damaging Het
Anapc5 A T 5: 122,800,632 Y360N probably damaging Het
Angptl6 C A 9: 20,878,387 A70S probably benign Het
Ankdd1a C A 9: 65,510,328 K137N probably null Het
Ccdc170 T C 10: 4,546,950 probably benign Het
Ccdc51 A G 9: 109,091,630 E195G probably damaging Het
Cdc37 A T 9: 21,142,130 C204S possibly damaging Het
Cfap36 T C 11: 29,222,431 probably benign Het
Col6a2 C A 10: 76,596,425 G965C probably damaging Het
Csn1s2a G A 5: 87,778,967 S53N possibly damaging Het
Dab2ip T C 2: 35,692,376 probably null Het
Dhx58 A G 11: 100,696,997 V578A probably damaging Het
Diaph1 G T 18: 37,891,849 Q520K unknown Het
Eefsec C A 6: 88,297,649 K444N probably benign Het
Eftud2 A T 11: 102,868,617 H153Q possibly damaging Het
Eif5b T G 1: 38,019,243 S209A probably benign Het
Exosc2 T A 2: 31,672,485 Y46N probably damaging Het
F2 C T 2: 91,625,730 G562D probably damaging Het
Fgf23 G A 6: 127,080,165 G148D probably damaging Het
Fmnl3 G C 15: 99,322,738 probably benign Het
Fstl5 G A 3: 76,707,479 G179R probably damaging Het
Gart T A 16: 91,625,394 Q745L probably benign Het
Gmeb1 T A 4: 132,232,108 M212L probably benign Het
Gpaa1 T C 15: 76,334,781 Y548H probably damaging Het
Gpatch1 T C 7: 35,287,242 E763G probably damaging Het
Grm8 T A 6: 27,762,390 I279F probably damaging Het
Hcls1 T A 16: 36,951,174 H147Q probably damaging Het
Hpcal1 A C 12: 17,786,388 D73A probably damaging Het
Il22ra1 T C 4: 135,751,006 S463P probably benign Het
Itgbl1 G A 14: 123,840,686 probably null Het
Izumo3 G T 4: 92,147,200 probably benign Het
Kcna5 A T 6: 126,533,383 L594Q probably damaging Het
Kif13a A T 13: 46,764,603 D409E probably benign Het
Kif9 A T 9: 110,485,038 I39F probably damaging Het
Klri2 C T 6: 129,732,208 R227H possibly damaging Het
Lamc3 G A 2: 31,908,616 G445S probably damaging Het
Lctl A G 9: 64,117,698 probably benign Het
Lrp4 T C 2: 91,494,982 L1384P probably damaging Het
Mcm9 G A 10: 53,563,430 S549L possibly damaging Het
Ms4a15 G A 19: 10,979,333 probably benign Het
Mtor T C 4: 148,470,624 V901A possibly damaging Het
Nckap1l A T 15: 103,481,964 I721F probably benign Het
Nemp2 T C 1: 52,645,429 V298A probably benign Het
Npc1l1 T A 11: 6,228,148 K421* probably null Het
Npr1 C T 3: 90,455,937 V879M probably damaging Het
Olfr1368 A G 13: 21,142,166 V297A possibly damaging Het
Olfr638 A G 7: 104,003,502 T82A probably benign Het
Osgin1 A T 8: 119,442,480 I39F possibly damaging Het
Phip G C 9: 82,927,191 probably null Het
Pkdrej G T 15: 85,821,567 P56Q possibly damaging Het
Plcxd2 A G 16: 45,980,526 Y112H probably damaging Het
Plekha1 C T 7: 130,897,446 T155M probably damaging Het
Prkdc T C 16: 15,740,332 probably null Het
Prss1 A G 6: 41,462,561 H76R probably damaging Het
Psg23 T C 7: 18,614,633 D83G probably benign Het
Ptprd T A 4: 76,136,903 Q196L probably benign Het
Ranbp3l A T 15: 9,062,987 H292L probably damaging Het
Ranbp6 T C 19: 29,809,697 E1085G probably benign Het
Rccd1 A G 7: 80,320,578 V97A possibly damaging Het
Rchy1 T C 5: 91,957,599 S48G probably benign Het
Rnmt G A 18: 68,313,700 M265I probably benign Het
Robo3 A T 9: 37,425,344 M376K probably benign Het
Rrp12 T C 19: 41,873,850 D898G probably benign Het
Scg3 A T 9: 75,663,180 probably benign Het
Sec31b A T 19: 44,534,382 M57K probably damaging Het
Slc17a6 A C 7: 51,666,144 I387L probably benign Het
Speer4a T A 5: 26,035,984 Q170L possibly damaging Het
Srsf9 A G 5: 115,332,201 D146G possibly damaging Het
Ss18 A G 18: 14,655,143 M90T probably damaging Het
Syna A T 5: 134,559,460 F212I possibly damaging Het
Thsd1 A G 8: 22,243,039 H34R probably damaging Het
Tmem143 T C 7: 45,897,662 I84T probably benign Het
Trim50 T C 5: 135,366,633 V281A probably damaging Het
Trp53i11 C A 2: 93,199,351 probably benign Het
Ttc25 A G 11: 100,563,568 E393G probably damaging Het
Ttll4 C T 1: 74,679,692 T234I possibly damaging Het
Ttyh1 A T 7: 4,124,720 I136F possibly damaging Het
Ube2f T C 1: 91,262,254 probably benign Het
Vmn1r222 A C 13: 23,232,804 C80G probably damaging Het
Vps13b G T 15: 35,926,219 A3889S probably benign Het
Vps8 T C 16: 21,504,386 probably benign Het
Zbtb44 A G 9: 31,066,710 Y422C probably damaging Het
Zfp180 A G 7: 24,105,733 S526G possibly damaging Het
Zfp518a A C 19: 40,915,866 E1413A probably damaging Het
Zfp629 T A 7: 127,611,686 Y317F probably damaging Het
Zfp804b T C 5: 6,770,534 E843G probably benign 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
IGL02128:Vcl APN 14 21020577 missense probably benign
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
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
X0028:Vcl UTSW 14 20985662 nonsense probably null
X0060:Vcl UTSW 14 21020776 missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- CCAATGATGTGTGGTGCTCCCTTTG -3'
(R):5'- TGGCTTTCTTAAGTTCCCTGGCAAC -3'

Sequencing Primer
(F):5'- GATTCAATGTATCAGAGACTGCC -3'
(R):5'- TTCTGTCCACCTTGGAACAAAG -3'
Posted On2013-04-12