Incidental Mutation 'IGL00951:Vkorc1l1'
ID27467
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 #IGL00951
Quality Score
Status
Chromosome5
Chromosomal Location129941970-129986692 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 129982267 bp
ZygosityHeterozygous
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]
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: 99,505,704 R388L probably benign Het
Bcan T C 3: 87,994,174 E407G probably damaging Het
Brms1l A G 12: 55,866,049 I276V possibly damaging Het
Brpf1 C A 6: 113,322,553 D1182E probably damaging Het
Clpb A G 7: 101,751,260 M268V probably benign Het
Cpne8 A T 15: 90,601,893 probably benign Het
Ddx25 A T 9: 35,552,835 probably null Het
Dgki A G 6: 37,000,159 M672T probably damaging Het
Fhdc1 T C 3: 84,464,313 T112A possibly damaging Het
Galnt7 A T 8: 57,583,824 M177K probably damaging Het
Gucy1a1 T C 3: 82,111,191 D113G probably benign Het
Hp T C 8: 109,577,497 D24G possibly damaging Het
Jak2 A G 19: 29,299,583 R847G probably damaging Het
Lama2 A T 10: 27,030,285 D2391E probably benign Het
Mpzl1 A G 1: 165,605,822 F87L probably damaging Het
Ms4a4d A T 19: 11,554,921 I144F probably benign Het
Olfr152 A T 2: 87,782,539 I2F probably benign Het
Olfr186 G A 16: 59,027,853 T18I probably benign Het
Olfr191 A C 16: 59,086,393 L30R possibly damaging Het
Olfr214 G A 6: 116,557,066 V214I probably benign Het
Olfr818 A G 10: 129,945,712 S2P probably damaging Het
Prr16 A G 18: 51,303,339 R297G probably damaging Het
Ralgps1 A C 2: 33,273,602 L148V probably damaging Het
Rara A G 11: 98,968,166 D150G probably benign Het
Rb1 A T 14: 73,322,072 V64D probably damaging Het
Ros1 A G 10: 52,143,252 Y742H probably damaging Het
Rpl7a A G 2: 26,912,429 D160G possibly damaging Het
Sdccag8 A G 1: 176,878,002 M461V possibly damaging Het
Tagln T A 9: 45,930,872 N141I probably benign Het
Tas2r137 A T 6: 40,491,979 R248* probably null Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ulk1 A G 5: 110,792,404 C384R possibly damaging Het
Ush2a A T 1: 188,263,465 E144D probably benign Het
Zfp235 T C 7: 24,137,080 F17S probably damaging Het
Other mutations in Vkorc1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03367:Vkorc1l1 APN 5 129982307 nonsense probably null
R3893:Vkorc1l1 UTSW 5 129982271 missense probably benign 0.00
R6298:Vkorc1l1 UTSW 5 129942238 missense probably damaging 0.99
Posted On2013-04-17