Mutagenetix > Incidental Mutation

Incidental Mutation 'R4095:Pdxk'

317865

Institutional Source

Beutler Lab

Gene Symbol

Pdxk

Ensembl Gene

ENSMUSG00000032788

Gene Name

pyridoxal (pyridoxine, vitamin B6) kinase

Synonyms

2310036D04Rik

MMRRC Submission

040858-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78272581-78300782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78300644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 13 (H13R)

Ref Sequence

ENSEMBL: ENSMUSP00000038540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041616]

AlphaFold

Q8K183

Predicted Effect

probably damaging
Transcript: ENSMUST00000041616
AA Change: H13R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038540
Gene: ENSMUSG00000032788
AA Change: H13R

Domain	Start	End	E-Value	Type
Pfam:Phos_pyr_kin	69	285	1.4e-18	PFAM
Pfam:PfkB	95	277	1.3e-9	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000101024
Gene: ENSMUSG00000032788
AA Change: H13R

Domain	Start	End	E-Value	Type
Pfam:PfkB	4	259	1.6e-32	PFAM
Pfam:Phos_pyr_kin	70	252	3.6e-18	PFAM

Meta Mutation Damage Score

0.8124

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	T	12: 53,186,245 (GRCm39)	I1220L	probably damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Apba1	A	T	19: 23,921,388 (GRCm39)	Q737L	probably benign	Het
Arvcf	T	A	16: 18,220,327 (GRCm39)	D564E	probably damaging	Het
Bcl11b	G	T	12: 107,883,094 (GRCm39)	P335Q	probably damaging	Het
Brd9	G	A	13: 74,092,918 (GRCm39)	V302I	probably benign	Het
Brinp3	C	A	1: 146,777,430 (GRCm39)	H626N	possibly damaging	Het
C1qc	T	C	4: 136,617,637 (GRCm39)	N153S	probably benign	Het
Casp3	G	A	8: 47,087,251 (GRCm39)	G66D	probably damaging	Het
Coq7	T	G	7: 118,126,701 (GRCm39)		probably null	Het
Dach1	C	T	14: 98,138,815 (GRCm39)	V491M	possibly damaging	Het
Dda1	A	G	8: 71,926,436 (GRCm39)	T52A	possibly damaging	Het
Entpd7	A	G	19: 43,692,640 (GRCm39)	Y65C	probably damaging	Het
Fmnl2	A	G	2: 52,991,535 (GRCm39)	D350G	probably damaging	Het
Foxn3	G	T	12: 99,162,700 (GRCm39)	D400E	probably damaging	Het
Gbp2	A	G	3: 142,343,210 (GRCm39)	T576A	probably benign	Het
Gm15446	T	A	5: 110,088,590 (GRCm39)		probably null	Het
Gtf2a1	G	T	12: 91,542,411 (GRCm39)	T57K	possibly damaging	Het
Hps5	T	C	7: 46,425,218 (GRCm39)	E494G	probably benign	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Hydin	A	G	8: 111,268,179 (GRCm39)	N2886S	probably damaging	Het
Ighv2-6-8	T	C	12: 113,759,773 (GRCm39)	Y112C	probably damaging	Het
Kcnf1	A	T	12: 17,225,480 (GRCm39)	L247Q	possibly damaging	Het
Kndc1	A	G	7: 139,516,938 (GRCm39)	M1606V	possibly damaging	Het
Krt27	T	C	11: 99,236,619 (GRCm39)	T431A	probably benign	Het
Lama4	A	T	10: 38,973,118 (GRCm39)	I1562F	probably damaging	Het
Lrig1	T	C	6: 94,590,559 (GRCm39)	D487G	probably benign	Het
Lrp1b	G	A	2: 41,339,203 (GRCm39)	T880I	probably benign	Het
Ltbp4	A	G	7: 27,024,641 (GRCm39)	V663A	possibly damaging	Het
Mapt	T	C	11: 104,201,362 (GRCm39)		probably null	Het
Mpdz	A	T	4: 81,302,060 (GRCm39)	V229D	possibly damaging	Het
Or10am5	T	A	7: 6,518,252 (GRCm39)	S59C	possibly damaging	Het
Or6e1	T	C	14: 54,520,188 (GRCm39)	T55A	probably benign	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Parm1	T	C	5: 91,742,039 (GRCm39)	S136P	probably benign	Het
Pcdhgb2	T	A	18: 37,824,003 (GRCm39)	S331R	probably benign	Het
Ppp1r12c	T	C	7: 4,486,366 (GRCm39)	E601G	probably damaging	Het
Rell1	C	A	5: 64,126,013 (GRCm39)	V22L	probably benign	Het
Sema6c	T	A	3: 95,080,505 (GRCm39)	L901Q	probably benign	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc22a23	A	G	13: 34,489,189 (GRCm39)	L116P	probably damaging	Het
Slit1	A	T	19: 41,596,925 (GRCm39)		probably benign	Het
Spns1	T	C	7: 125,969,958 (GRCm39)	T481A	probably damaging	Het
Tmem104	T	A	11: 115,134,749 (GRCm39)	Y427*	probably null	Het
Tmem74	G	A	15: 43,730,678 (GRCm39)	Q122*	probably null	Het
Tnpo2	T	A	8: 85,765,048 (GRCm39)	L10Q	probably damaging	Het
Trav6-2	G	T	14: 52,905,272 (GRCm39)	A98S	probably benign	Het
Ttll5	A	T	12: 86,003,376 (GRCm39)	R214*	probably null	Het
Ube2b	A	C	11: 51,888,654 (GRCm39)	V39G	possibly damaging	Het
Vmn1r185	A	T	7: 26,311,208 (GRCm39)	V99E	probably damaging	Het
Wnk1	G	A	6: 119,925,087 (GRCm39)	T1459I	probably damaging	Het
Zc3h7a	T	C	16: 10,963,099 (GRCm39)	K754R	probably damaging	Het
Zfp605	A	G	5: 110,275,602 (GRCm39)	K240R	probably damaging	Het
Zfp61	A	G	7: 23,990,700 (GRCm39)		probably null	Het

Other mutations in Pdxk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02556:Pdxk	APN	10	78,287,319 (GRCm39)	missense	probably damaging	1.00
R1434:Pdxk	UTSW	10	78,276,645 (GRCm39)	missense	probably benign	0.01
R1572:Pdxk	UTSW	10	78,283,814 (GRCm39)	missense	probably damaging	1.00
R1719:Pdxk	UTSW	10	78,279,730 (GRCm39)	missense	probably benign
R1970:Pdxk	UTSW	10	78,276,988 (GRCm39)	missense	probably damaging	1.00
R2962:Pdxk	UTSW	10	78,279,667 (GRCm39)	missense	probably damaging	1.00
R4094:Pdxk	UTSW	10	78,300,644 (GRCm39)	missense	probably damaging	1.00
R4613:Pdxk	UTSW	10	78,283,753 (GRCm39)	missense	probably damaging	0.99
R4686:Pdxk	UTSW	10	78,282,837 (GRCm39)	splice site	probably null
R4783:Pdxk	UTSW	10	78,300,626 (GRCm39)	missense	possibly damaging	0.72
R4980:Pdxk	UTSW	10	78,287,318 (GRCm39)	missense	probably damaging	1.00
R5076:Pdxk	UTSW	10	78,286,141 (GRCm39)	missense	probably benign
R5847:Pdxk	UTSW	10	78,280,872 (GRCm39)	missense	probably benign
R6145:Pdxk	UTSW	10	78,279,625 (GRCm39)	missense	probably benign	0.44
R7109:Pdxk	UTSW	10	78,282,810 (GRCm39)	missense	probably damaging	1.00
R7399:Pdxk	UTSW	10	78,276,697 (GRCm39)	missense	probably benign	0.00
R7445:Pdxk	UTSW	10	78,283,801 (GRCm39)	missense	probably benign
R7629:Pdxk	UTSW	10	78,280,840 (GRCm39)	missense	probably benign
R7700:Pdxk	UTSW	10	78,279,764 (GRCm39)	splice site	probably null
R7936:Pdxk	UTSW	10	78,277,012 (GRCm39)	missense	possibly damaging	0.93
R8178:Pdxk	UTSW	10	78,289,338 (GRCm39)	missense	probably damaging	0.99
R8780:Pdxk	UTSW	10	78,283,786 (GRCm39)	missense	probably benign	0.04
R8783:Pdxk	UTSW	10	78,287,339 (GRCm39)	missense	probably benign	0.06
R8964:Pdxk	UTSW	10	78,283,771 (GRCm39)	missense	probably benign	0.17
R9658:Pdxk	UTSW	10	78,287,403 (GRCm39)	missense	probably benign	0.07
Z1176:Pdxk	UTSW	10	78,277,022 (GRCm39)	missense	probably damaging	1.00
Z1177:Pdxk	UTSW	10	78,279,739 (GRCm39)	missense	probably benign	0.33
Z1189:Pdxk	UTSW	10	78,280,895 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- CGCTCAATAGGGACCCAAAAGG -3'
(R):5'- CATGTGCTGGATTCCACAGGTC -3'

Sequencing Primer
(F):5'- GGACCCAAAAGGATGGCCAC -3'
(R):5'- TGGATTCCACAGGTCCCGTTG -3'

Posted On

2015-05-15