Incidental Mutation 'IGL03367:Vkorc1l1'
ID420132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vkorc1l1
Ensembl Gene ENSMUSG00000066735
Gene Namevitamin K epoxide reductase complex, subunit 1-like 1
Synonyms2310024K08Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03367
Quality Score
Status
Chromosome5
Chromosomal Location129941970-129986692 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 129982307 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 111 (Y111*)
Ref Sequence ENSEMBL: ENSMUSP00000073601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051758] [ENSMUST00000073945] [ENSMUST00000201855] [ENSMUST00000202486]
Predicted Effect probably null
Transcript: ENSMUST00000051758
AA Change: Y157*
SMART Domains Protein: ENSMUSP00000059139
Gene: ENSMUSG00000066735
AA Change: Y157*

DomainStartEndE-ValueType
Pfam:VKOR 15 68 2.1e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000073945
AA Change: Y111*
SMART Domains Protein: ENSMUSP00000073601
Gene: ENSMUSG00000066735
AA Change: Y111*

DomainStartEndE-ValueType
VKc 12 160 4.61e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201855
AA Change: Q121K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144608
Gene: ENSMUSG00000066735
AA Change: Q121K

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
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030419C18Rik A G 9: 58,499,098 H97R probably damaging Het
Abcc5 A T 16: 20,392,811 probably benign Het
Adra1a G A 14: 66,637,989 V138I possibly damaging Het
Alpk3 A G 7: 81,094,990 I1278V probably benign Het
Asb6 A T 2: 30,824,679 I185N possibly damaging Het
Atg9a A G 1: 75,187,957 V121A probably benign Het
Cdc42bpb A G 12: 111,336,159 Y155H probably damaging Het
Ceacam15 A C 7: 16,675,587 S8A possibly damaging Het
Cep170b T A 12: 112,737,238 D615E probably benign Het
Cntn6 G T 6: 104,804,338 G462C probably damaging Het
Col8a2 A G 4: 126,312,198 D667G probably damaging Het
Cyp2c29 A G 19: 39,329,215 K382E probably damaging Het
Dgkd T C 1: 87,940,308 probably null Het
Dkk2 C T 3: 132,178,077 T246I probably damaging Het
Dnah5 T C 15: 28,234,327 L294P possibly damaging Het
Erbb2 G T 11: 98,422,875 probably null Het
Fn1 A G 1: 71,597,553 F2147L probably benign Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm13088 C T 4: 143,655,623 V168I possibly damaging Het
Gnrhr C T 5: 86,182,331 V277I probably benign Het
H2-T10 T A 17: 36,120,393 E129V possibly damaging Het
Hmgcr T C 13: 96,665,853 T108A probably damaging Het
Hnrnph3 A T 10: 63,017,229 I196N probably damaging Het
Kcnq5 T C 1: 21,403,065 K653E probably damaging Het
Lgi2 C A 5: 52,562,160 D100Y probably damaging Het
Mettl15 T A 2: 109,131,571 H231L probably benign Het
Mthfd1l A G 10: 4,106,536 probably benign Het
Pik3cg A G 12: 32,192,121 S997P probably benign Het
Pla2g1b T C 5: 115,472,114 C105R probably damaging Het
Ppil1 A T 17: 29,252,244 probably benign Het
Rbbp8 A G 18: 11,721,719 T334A probably benign Het
Slc15a4 T C 5: 127,601,941 Y445C probably damaging Het
Sox14 A C 9: 99,875,662 I8S probably damaging Het
Spice1 A G 16: 44,356,178 T44A probably damaging Het
Sult3a1 G T 10: 33,877,346 V213L probably benign Het
Wdr47 G T 3: 108,629,773 probably benign Het
Wdr90 A G 17: 25,847,791 probably benign Het
Other mutations in Vkorc1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Vkorc1l1 APN 5 129982267 missense probably benign 0.00
R3893:Vkorc1l1 UTSW 5 129982271 missense probably benign 0.00
R6298:Vkorc1l1 UTSW 5 129942238 missense probably damaging 0.99
Posted On2016-08-02