Mutagenetix > Incidental Mutation

Incidental Mutation 'R1434:Pdxk'

159391

Institutional Source

Beutler Lab

Gene Symbol

Pdxk

Ensembl Gene

ENSMUSG00000032788

Gene Name

pyridoxal (pyridoxine, vitamin B6) kinase

Synonyms

2310036D04Rik

MMRRC Submission

039489-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78272581-78300782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78276645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 310 (T310K)

Ref Sequence

ENSEMBL: ENSMUSP00000038540 (fasta)

Gene Model

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

AlphaFold

Q8K183

Predicted Effect

probably benign
Transcript: ENSMUST00000041616
AA Change: T310K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000038540
Gene: ENSMUSG00000032788
AA Change: T310K

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

noncoding transcript
Transcript: ENSMUST00000184056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218544

Meta Mutation Damage Score

0.0933

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

99% (73/74)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,348,959 (GRCm39)	H851N	probably benign	Het
Adamtsl4	T	C	3: 95,588,094 (GRCm39)	Y631C	probably damaging	Het
Ankhd1	A	G	18: 36,758,212 (GRCm39)	I969V	probably benign	Het
Apob	A	G	12: 8,059,715 (GRCm39)	I2699M	probably damaging	Het
Aqr	A	T	2: 113,980,890 (GRCm39)	L297Q	probably damaging	Het
Arb2a	A	T	13: 77,910,041 (GRCm39)	Y98F	probably damaging	Het
Camsap1	A	G	2: 25,835,190 (GRCm39)	Y301H	probably damaging	Het
Ccdc88c	A	G	12: 100,905,425 (GRCm39)		probably benign	Het
Cd209b	T	A	8: 3,973,367 (GRCm39)	I106F	possibly damaging	Het
Cdkn1b	T	A	6: 134,898,060 (GRCm39)	W60R	probably damaging	Het
Coasy	A	G	11: 100,975,822 (GRCm39)		probably benign	Het
Col2a1	T	A	15: 97,877,532 (GRCm39)	Q1017L	probably damaging	Het
Cspg4b	G	A	13: 113,505,026 (GRCm39)	V510I	possibly damaging	Het
Ctnnal1	T	A	4: 56,847,971 (GRCm39)	N56I	probably damaging	Het
Cyb561d2	T	A	9: 107,418,842 (GRCm39)		probably benign	Het
Dcst1	G	T	3: 89,259,826 (GRCm39)	T632N	probably damaging	Het
Ddx1	C	T	12: 13,287,232 (GRCm39)	V267I	probably benign	Het
Dnah10	A	T	5: 124,852,050 (GRCm39)	M1736L	probably benign	Het
Eln	G	A	5: 134,758,291 (GRCm39)		probably benign	Het
Elp1	T	A	4: 56,781,193 (GRCm39)	E493D	probably benign	Het
Enpp2	A	T	15: 54,726,077 (GRCm39)	D566E	probably damaging	Het
Ezh1	T	C	11: 101,085,743 (GRCm39)	K638R	probably damaging	Het
Fdx2	C	A	9: 20,984,694 (GRCm39)	G37W	probably benign	Het
Grin2b	T	C	6: 135,820,193 (GRCm39)	I340V	probably benign	Het
Il16	T	C	7: 83,304,520 (GRCm39)	T671A	probably benign	Het
Kcnd2	T	A	6: 21,216,356 (GRCm39)	M20K	probably damaging	Het
Kndc1	C	T	7: 139,502,600 (GRCm39)	S962F	probably damaging	Het
L1td1	A	G	4: 98,626,054 (GRCm39)	S750G	possibly damaging	Het
Lama2	A	G	10: 27,084,366 (GRCm39)	C935R	probably damaging	Het
Lgalsl	T	C	11: 20,776,418 (GRCm39)	D158G	possibly damaging	Het
Lman1	A	T	18: 66,126,144 (GRCm39)		probably null	Het
Lmtk2	A	G	5: 144,111,407 (GRCm39)	E709G	probably damaging	Het
Lrfn3	T	C	7: 30,055,352 (GRCm39)	H531R	possibly damaging	Het
Mark3	A	G	12: 111,589,759 (GRCm39)		probably benign	Het
Mov10	T	C	3: 104,702,490 (GRCm39)	E997G	probably damaging	Het
Myo15a	T	A	11: 60,395,157 (GRCm39)	W2484R	probably benign	Het
Myo1g	G	T	11: 6,459,372 (GRCm39)	Q833K	probably benign	Het
Ncoa3	T	A	2: 165,897,430 (GRCm39)	D740E	probably benign	Het
Nol12	A	G	15: 78,822,153 (GRCm39)		probably benign	Het
Nrxn2	T	A	19: 6,493,642 (GRCm39)		probably null	Het
Nsfl1c	A	C	2: 151,342,666 (GRCm39)	I79L	probably benign	Het
Or52b2	T	C	7: 104,986,468 (GRCm39)	I152V	probably benign	Het
Or5b108	A	G	19: 13,168,662 (GRCm39)	I210M	probably benign	Het
Or5k1	G	T	16: 58,617,811 (GRCm39)	H133N	probably benign	Het
Osbpl8	A	C	10: 111,127,442 (GRCm39)	E842A	probably benign	Het
Phip	T	G	9: 82,841,658 (GRCm39)	K54Q	probably damaging	Het
Pklr	A	T	3: 89,050,342 (GRCm39)	D366V	probably damaging	Het
Plxna2	T	A	1: 194,433,848 (GRCm39)		probably benign	Het
Ppp4r3a	A	T	12: 101,009,783 (GRCm39)	V618E	probably damaging	Het
Prdm12	A	T	2: 31,530,319 (GRCm39)	Q70L	possibly damaging	Het
Ptgr3	A	G	18: 84,112,596 (GRCm39)	K91E	probably benign	Het
Ptpn21	A	T	12: 98,654,849 (GRCm39)	M706K	probably damaging	Het
Ptprq	A	T	10: 107,422,575 (GRCm39)	F1606I	probably damaging	Het
Rasgrp4	T	C	7: 28,837,152 (GRCm39)		probably null	Het
Rlbp1	C	A	7: 79,029,661 (GRCm39)		probably null	Het
Rtp2	T	C	16: 23,746,193 (GRCm39)	D166G	probably benign	Het
Ryr3	A	C	2: 112,475,604 (GRCm39)	F4481V	probably damaging	Het
Scn2a	A	G	2: 65,532,335 (GRCm39)	D649G	possibly damaging	Het
Slc30a5	T	A	13: 100,939,950 (GRCm39)	D655V	probably damaging	Het
Slco5a1	G	A	1: 12,942,132 (GRCm39)	A838V	probably benign	Het
Spata6l	G	T	19: 28,905,039 (GRCm39)		probably benign	Het
Srprb	A	G	9: 103,067,501 (GRCm39)	V239A	probably damaging	Het
Tceanc2	T	C	4: 107,004,837 (GRCm39)	T104A	probably benign	Het
Tcp1	T	C	17: 13,141,493 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,385 (GRCm39)	R1056*	probably null	Het
Wdr19	G	A	5: 65,380,847 (GRCm39)		probably benign	Het
Zfhx4	T	A	3: 5,306,919 (GRCm39)	H48Q	probably benign	Het
Zfp787	T	A	7: 6,135,234 (GRCm39)	H339L	probably damaging	Het
Zfp839	G	T	12: 110,827,333 (GRCm39)	R408L	probably benign	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
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
R4095: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'- TTCACGCTAGAGACTGGCTGAGAC -3'
(R):5'- AGGACCATCCGGTGTGCAAAAG -3'

Sequencing Primer
(F):5'- ACTGGCTGAGACCCGAC -3'
(R):5'- CCTCCTGCTATGTTAGAAGTGAG -3'

Posted On

2014-03-14