Incidental Mutation 'IGL00951:Vkorc1l1'
ID 27467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vkorc1l1
Ensembl Gene ENSMUSG00000066735
Gene Name vitamin K epoxide reductase complex, subunit 1-like 1
Synonyms 2310024K08Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00951
Quality Score
Status
Chromosome 5
Chromosomal Location 129970950-130015533 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130011108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 144 (T144I)
Ref Sequence ENSEMBL: ENSMUSP00000059139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051758] [ENSMUST00000073945] [ENSMUST00000201855] [ENSMUST00000202486]
AlphaFold Q6TEK5
Predicted Effect probably benign
Transcript: ENSMUST00000051758
AA Change: T144I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000059139
Gene: ENSMUSG00000066735
AA Change: T144I

DomainStartEndE-ValueType
Pfam:VKOR 15 68 2.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073945
AA Change: T98I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073601
Gene: ENSMUSG00000066735
AA Change: T98I

DomainStartEndE-ValueType
VKc 12 160 4.61e-44 SMART
Predicted Effect silent
Transcript: ENSMUST00000201855
SMART Domains Protein: ENSMUSP00000144608
Gene: ENSMUSG00000066735

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 C A 9: 99,387,757 (GRCm39) R388L probably benign Het
Bcan T C 3: 87,901,481 (GRCm39) E407G probably damaging Het
Brms1l A G 12: 55,912,834 (GRCm39) I276V possibly damaging Het
Brpf1 C A 6: 113,299,514 (GRCm39) D1182E probably damaging Het
Clpb A G 7: 101,400,467 (GRCm39) M268V probably benign Het
Cpne8 A T 15: 90,486,096 (GRCm39) probably benign Het
Ddx25 A T 9: 35,464,131 (GRCm39) probably null Het
Dgki A G 6: 36,977,094 (GRCm39) M672T probably damaging Het
Fhdc1 T C 3: 84,371,620 (GRCm39) T112A possibly damaging Het
Galnt7 A T 8: 58,036,858 (GRCm39) M177K probably damaging Het
Gucy1a1 T C 3: 82,018,498 (GRCm39) D113G probably benign Het
Hp T C 8: 110,304,129 (GRCm39) D24G possibly damaging Het
Jak2 A G 19: 29,276,983 (GRCm39) R847G probably damaging Het
Lama2 A T 10: 26,906,281 (GRCm39) D2391E probably benign Het
Mpzl1 A G 1: 165,433,391 (GRCm39) F87L probably damaging Het
Ms4a4d A T 19: 11,532,285 (GRCm39) I144F probably benign Het
Or5h18 G A 16: 58,848,216 (GRCm39) T18I probably benign Het
Or5h23 A C 16: 58,906,756 (GRCm39) L30R possibly damaging Het
Or5i1 A T 2: 87,612,883 (GRCm39) I2F probably benign Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Or6d14 G A 6: 116,534,027 (GRCm39) V214I probably benign Het
Prr16 A G 18: 51,436,411 (GRCm39) R297G probably damaging Het
Ralgps1 A C 2: 33,163,614 (GRCm39) L148V probably damaging Het
Rara A G 11: 98,858,992 (GRCm39) D150G probably benign Het
Rb1 A T 14: 73,559,512 (GRCm39) V64D probably damaging Het
Ros1 A G 10: 52,019,348 (GRCm39) Y742H probably damaging Het
Rpl7a A G 2: 26,802,441 (GRCm39) D160G possibly damaging Het
Sdccag8 A G 1: 176,705,568 (GRCm39) M461V possibly damaging Het
Tagln T A 9: 45,842,170 (GRCm39) N141I probably benign Het
Tas2r140 A T 6: 40,468,913 (GRCm39) R248* probably null Het
Ube2j2 C T 4: 156,030,834 (GRCm39) probably benign Het
Ulk1 A G 5: 110,940,270 (GRCm39) C384R possibly damaging Het
Ush2a A T 1: 187,995,662 (GRCm39) E144D probably benign Het
Zfp235 T C 7: 23,836,505 (GRCm39) F17S probably damaging Het
Other mutations in Vkorc1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03367:Vkorc1l1 APN 5 130,011,148 (GRCm39) nonsense probably null
R3893:Vkorc1l1 UTSW 5 130,011,112 (GRCm39) missense probably benign 0.00
R6298:Vkorc1l1 UTSW 5 129,971,079 (GRCm39) missense probably damaging 0.99
R9752:Vkorc1l1 UTSW 5 130,011,078 (GRCm39) nonsense probably null
Posted On 2013-04-17