Mutagenetix > Incidental Mutation

Incidental Mutation 'R7769:Vkorc1'

598471

Institutional Source

Beutler Lab

Gene Symbol

Vkorc1

Ensembl Gene

ENSMUSG00000096145

Gene Name

vitamin K epoxide reductase complex, subunit 1

Synonyms

D7Wsu86e

MMRRC Submission

045825-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R7769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127492235-127494789 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 127493696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 88 (Y88*)

Ref Sequence

ENSEMBL: ENSMUSP00000033074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033074] [ENSMUST00000119922] [ENSMUST00000121394] [ENSMUST00000205300] [ENSMUST00000206053]

AlphaFold

Q9CRC0

Predicted Effect

probably null
Transcript: ENSMUST00000033074
AA Change: Y88*

SMART Domains

Protein: ENSMUSP00000033074
Gene: ENSMUSG00000096145
AA Change: Y88*

Domain	Start	End	E-Value	Type
VKc	5	153	1.29e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000119922
AA Change: Y20*

SMART Domains

Protein: ENSMUSP00000112542
Gene: ENSMUSG00000096145
AA Change: Y20*

Domain	Start	End	E-Value	Type
Pfam:VKOR	3	85	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121394

SMART Domains

Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	38	268	3.91e-45	SMART
Tryp_SPc	300	520	9.95e-29	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000126662
AA Change: Y45*

SMART Domains

Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804
AA Change: Y45*

Domain	Start	End	E-Value	Type
VKc	1	111	8.84e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205300

Predicted Effect

probably null
Transcript: ENSMUST00000206053
AA Change: Y39*

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (71/74)

MGI Phenotype

FUNCTION: Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. [provided by RefSeq, Jul 2008]
PHENOTYPE: Spontaneous mutations of this gene have been associated with resistance to the anticoagulant effect of warfarin. Mice homozygous for a knock-out allele exhibit prenatal lethality and hemorrhages associated with defects in vitamin K-dependent coagulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	ACCAGCCC	ACC	14: 118,852,682 (GRCm39)		probably null	Het
Abhd14b	T	C	9: 106,328,819 (GRCm39)	Y147H	probably damaging	Het
Adam26b	C	A	8: 43,974,732 (GRCm39)	R90L	probably benign	Het
Agt	A	T	8: 125,291,289 (GRCm39)	M6K	probably benign	Het
Akr1c14	T	C	13: 4,109,644 (GRCm39)	S5P	probably benign	Het
Arhgef38	A	C	3: 132,855,383 (GRCm39)	S235A	unknown	Het
Cabp5	A	G	7: 13,134,658 (GRCm39)	D31G	probably benign	Het
Cacna1h	T	A	17: 25,604,779 (GRCm39)	D1178V	probably damaging	Het
Ccdc88a	A	T	11: 29,432,381 (GRCm39)	E1199D	probably damaging	Het
Cd244a	A	T	1: 171,404,873 (GRCm39)	I242F	probably benign	Het
Clpb	G	T	7: 101,371,924 (GRCm39)	R220L	probably damaging	Het
Cltc	C	T	11: 86,610,319 (GRCm39)	R638H	probably damaging	Het
Cnr1	A	T	4: 33,944,892 (GRCm39)	M427L	probably benign	Het
Ctnnbl1	C	T	2: 157,579,390 (GRCm39)		probably benign	Het
Epb41l2	A	T	10: 25,369,471 (GRCm39)	T597S	probably benign	Het
Epb41l3	T	C	17: 69,545,421 (GRCm39)	Y163H	probably damaging	Het
Fgg	A	G	3: 82,920,433 (GRCm39)		probably null	Het
Gm37240	A	T	3: 84,417,232 (GRCm39)	D162E	possibly damaging	Het
Gm44511	T	A	6: 128,797,240 (GRCm39)	T83S	probably benign	Het
Gm6685	T	A	11: 28,289,252 (GRCm39)	Y188F	probably benign	Het
Gprin2	A	T	14: 33,917,570 (GRCm39)	C67S	probably benign	Het
Grk6	A	G	13: 55,598,820 (GRCm39)	D140G	probably benign	Het
Hps3	T	C	3: 20,072,972 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,335 (GRCm39)	V159A	possibly damaging	Het
Ibsp	A	G	5: 104,453,871 (GRCm39)	N70D	probably benign	Het
Ibsp	A	G	5: 104,458,050 (GRCm39)	N196D	probably damaging	Het
Igfn1	A	T	1: 135,910,143 (GRCm39)	F147Y	possibly damaging	Het
Iqca1	T	G	1: 90,005,532 (GRCm39)	D492A	possibly damaging	Het
Klhl42	T	C	6: 146,993,358 (GRCm39)	L110P	possibly damaging	Het
Krt12	C	T	11: 99,308,852 (GRCm39)	R395Q	probably damaging	Het
Lig4	A	T	8: 10,023,629 (GRCm39)	H50Q	possibly damaging	Het
Mttp	A	C	3: 137,808,873 (GRCm39)	L730R	probably damaging	Het
Muc16	T	A	9: 18,571,803 (GRCm39)	I239L	unknown	Het
Myo15a	T	C	11: 60,399,975 (GRCm39)	F1723L		Het
Niban2	A	G	2: 32,809,844 (GRCm39)	T314A	possibly damaging	Het
Nin	T	C	12: 70,090,004 (GRCm39)	D1137G		Het
Nsf	C	T	11: 103,819,665 (GRCm39)	V35M	probably damaging	Het
Numa1	T	A	7: 101,648,207 (GRCm39)	I646K	possibly damaging	Het
Nwd2	A	G	5: 63,961,847 (GRCm39)	N477S	probably damaging	Het
Or1p1	T	A	11: 74,179,589 (GRCm39)	V39E	probably damaging	Het
P4ha3	A	G	7: 99,934,924 (GRCm39)	D62G	probably damaging	Het
Palb2	G	T	7: 121,727,638 (GRCm39)	D77E	probably benign	Het
Pcmtd2	T	C	2: 181,493,494 (GRCm39)	V233A	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pgr	C	T	9: 8,946,856 (GRCm39)	T699I	possibly damaging	Het
Pknox2	C	A	9: 36,806,602 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 124,439,087 (GRCm38)	H110R		Het
Psmd11	T	A	11: 80,325,408 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,736,001 (GRCm39)	N59S	probably benign	Het
Qser1	A	T	2: 104,588,921 (GRCm39)	D1662E	possibly damaging	Het
Rasip1	A	G	7: 45,278,239 (GRCm39)	Y180C	probably damaging	Het
Rbl1	T	C	2: 157,033,900 (GRCm39)	S393G	probably benign	Het
Rtn4r	C	T	16: 17,969,153 (GRCm39)	P194S	probably benign	Het
Ryr1	C	T	7: 28,798,210 (GRCm39)	G944D	probably damaging	Het
Scamp3	A	G	3: 89,085,298 (GRCm39)	D23G	probably damaging	Het
Secisbp2l	CTGGG	C	2: 125,613,465 (GRCm39)		probably benign	Het
Shcbp1	A	G	8: 4,789,232 (GRCm39)	I529T	probably damaging	Het
Slc5a10	T	A	11: 61,564,473 (GRCm39)	D502V	probably damaging	Het
Smad5	T	C	13: 56,880,855 (GRCm39)	I323T	possibly damaging	Het
Spred1	T	C	2: 117,007,930 (GRCm39)	S279P	probably benign	Het
Stag1	T	A	9: 100,826,880 (GRCm39)	V949D	possibly damaging	Het
Stxbp3	A	G	3: 108,708,144 (GRCm39)	S386P	probably benign	Het
Syt14	A	G	1: 192,666,632 (GRCm39)	S91P	unknown	Het
Thpo	C	T	16: 20,544,401 (GRCm39)	A211T	probably benign	Het
Tns1	T	A	1: 73,992,530 (GRCm39)	D716V	probably damaging	Het
Trbv26	A	G	6: 41,204,481 (GRCm39)	Y8C	probably benign	Het
Tshr	A	G	12: 91,505,044 (GRCm39)	I661V	probably damaging	Het
Uvrag	G	A	7: 98,628,928 (GRCm39)	P380S	probably damaging	Het
Vmn1r63	C	T	7: 5,806,369 (GRCm39)	V88M	probably damaging	Het
Wdsub1	A	G	2: 59,708,763 (GRCm39)	Y37H	probably damaging	Het
Zap70	A	G	1: 36,809,983 (GRCm39)	D31G	probably benign	Het
Zc3h12d	G	A	10: 7,743,390 (GRCm39)	A387T	probably benign	Het
Zfp438	C	T	18: 5,213,377 (GRCm39)	R527H	possibly damaging	Het

Other mutations in Vkorc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5198:Vkorc1	UTSW	7	127,493,760 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACCAAGTAGGATAAGCCTCCTGC -3'
(R):5'- AGGTCAATGCCCTTTGGACTC -3'

Sequencing Primer
(F):5'- GCCTCCTGCTAAGTGTTCTG -3'
(R):5'- CAATGCCCTTTGGACTCTTAGTAGG -3'

Posted On

2019-11-26