Incidental Mutation 'R3893:Vkorc1l1'
ID474597
Institutional Source Beutler Lab
Gene Symbol Vkorc1l1
Ensembl Gene ENSMUSG00000066735
Gene Namevitamin K epoxide reductase complex, subunit 1-like 1
Synonyms2310024K08Rik
MMRRC Submission 040805-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R3893 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location129941970-129986692 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129982271 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 109 (I109L)
Ref Sequence ENSEMBL: ENSMUSP00000144608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051758] [ENSMUST00000073945] [ENSMUST00000201855] [ENSMUST00000202486]
Predicted Effect silent
Transcript: ENSMUST00000051758
SMART Domains Protein: ENSMUSP00000059139
Gene: ENSMUSG00000066735

DomainStartEndE-ValueType
Pfam:VKOR 15 68 2.1e-13 PFAM
Predicted Effect silent
Transcript: ENSMUST00000073945
SMART Domains Protein: ENSMUSP00000073601
Gene: ENSMUSG00000066735

DomainStartEndE-ValueType
VKc 12 160 4.61e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201855
AA Change: I109L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144608
Gene: ENSMUSG00000066735
AA Change: I109L

DomainStartEndE-ValueType
Pfam:VKOR 17 88 5.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202298
Predicted Effect probably benign
Transcript: ENSMUST00000202486
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme important in the vitamin K cycle, which is involved in the carboxylation of glutamate residues present in vitamin K-dependent proteins. The encoded enzyme catalyzes the de-epoxidation of vitamin K 2,3-epoxide. Oxidative stress may upregulate expression of this gene and the encoded protein may protect cells and membrane proteins form oxidative damage. This gene and a related gene (Gene ID: 79001) may have arisen by gene duplication of an ancestral gene. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T A 1: 37,631,458 M134L probably benign Het
2610303G11Rik A T 9: 98,186,811 noncoding transcript Het
Adam19 C T 11: 46,128,838 A455V probably damaging Het
Akr1c19 G A 13: 4,238,442 D140N probably damaging Het
Atoh1 A G 6: 64,730,133 T271A probably damaging Het
Atp6v0a2 G A 5: 124,639,265 R168Q probably damaging Het
B930094E09Rik G A 18: 31,609,689 S59N unknown Het
Cadps A G 14: 12,488,883 probably benign Het
Cfap69 A T 5: 5,581,245 V61E probably damaging Het
Chd5 A G 4: 152,360,656 R365G probably damaging Het
Dnajc18 A T 18: 35,700,995 probably null Het
Fam49a T C 12: 12,362,525 V232A probably benign Het
Fmnl1 T A 11: 103,196,757 probably benign Het
Gca A G 2: 62,679,220 Y89C probably damaging Het
Gcnt2 A G 13: 40,860,446 Y31C probably benign Het
Gem C T 4: 11,705,889 probably benign Het
Ggps1 T C 13: 14,053,699 K300E probably benign Het
Gpc5 T C 14: 115,370,060 M358T probably benign Het
Gprin3 T C 6: 59,354,479 Y281C probably benign Het
H2-M11 A G 17: 36,547,090 T6A probably benign Het
Lrp5 G A 19: 3,612,330 R173C probably damaging Het
Lrrk1 T C 7: 66,278,520 probably benign Het
Macf1 A G 4: 123,486,406 Y1298H probably damaging Het
Micu3 C T 8: 40,366,224 L315F probably damaging Het
Pkd1 G A 17: 24,572,110 probably null Het
Pkhd1 A T 1: 20,312,138 Y2596* probably null Het
Pnliprp2 A G 19: 58,766,273 S250G probably benign Het
Prkcq A C 2: 11,226,971 E35A probably damaging Het
Prpf8 C A 11: 75,500,257 S1377R possibly damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Rsbn1l C T 5: 20,905,840 R500H probably damaging Het
Sart3 C T 5: 113,746,636 E636K probably benign Het
Skint3 A G 4: 112,253,918 K80R probably damaging Het
Slc11a1 G A 1: 74,384,706 A398T probably damaging Het
Sspo G T 6: 48,476,571 E2887* probably null Het
Tmc5 A C 7: 118,645,369 Y490S probably damaging Het
Tmem181a T A 17: 6,295,786 L185H probably damaging Het
Tnfsf8 G T 4: 63,860,959 T34K possibly damaging Het
Trim5 T A 7: 104,276,835 N173I probably damaging Het
Vmn1r214 A G 13: 23,034,641 T102A probably benign Het
Wdr19 A G 5: 65,228,292 D579G possibly damaging Het
Zc3h6 A G 2: 129,016,140 Y697C probably damaging Het
Zfp955b T C 17: 33,302,994 I479T probably benign Het
Other mutations in Vkorc1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Vkorc1l1 APN 5 129982267 missense probably benign 0.00
IGL03367:Vkorc1l1 APN 5 129982307 nonsense probably null
R6298:Vkorc1l1 UTSW 5 129942238 missense probably damaging 0.99
Predicted Primers
Posted On2017-04-14