Mutagenetix > Incidental Mutation

Incidental Mutation 'R7109:Pdxk'

551405

Institutional Source

Beutler Lab

Gene Symbol

Pdxk

Ensembl Gene

ENSMUSG00000032788

Gene Name

pyridoxal (pyridoxine, vitamin B6) kinase

Synonyms

2310036D04Rik

MMRRC Submission

045201-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7109 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78272581-78300782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78282810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 162 (I162F)

Ref Sequence

ENSEMBL: ENSMUSP00000038540 (fasta)

Gene Model

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

AlphaFold

Q8K183

Predicted Effect

probably damaging
Transcript: ENSMUST00000041616
AA Change: I162F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038540
Gene: ENSMUSG00000032788
AA Change: I162F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	G	2: 151,315,673 (GRCm39)	K2Q	probably damaging	Het
Abtb2	T	C	2: 103,545,860 (GRCm39)	Y903H	probably benign	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Alcam	T	A	16: 52,097,192 (GRCm39)	T355S	probably damaging	Het
Anapc1	A	G	2: 128,516,522 (GRCm39)	V404A	probably benign	Het
Bst2	A	G	8: 71,989,926 (GRCm39)	F49S	possibly damaging	Het
C1qtnf9	G	C	14: 61,017,019 (GRCm39)	W183S	probably benign	Het
Camsap3	A	G	8: 3,648,087 (GRCm39)	I132V	possibly damaging	Het
Cchcr1	T	A	17: 35,828,838 (GRCm39)		probably null	Het
Cenpk	A	G	13: 104,367,256 (GRCm39)	K31E	probably benign	Het
Cfap221	T	C	1: 119,853,301 (GRCm39)	K798E	possibly damaging	Het
Copb2	T	A	9: 98,463,333 (GRCm39)		probably null	Het
Dennd1a	T	A	2: 37,938,804 (GRCm39)	Y102F	probably damaging	Het
Eif2ak4	C	T	2: 118,235,532 (GRCm39)	P88S	probably damaging	Het
Epha6	C	A	16: 59,503,031 (GRCm39)	V959F	probably damaging	Het
Fam193a	C	A	5: 34,623,165 (GRCm39)	T1251K	possibly damaging	Het
Herc1	A	T	9: 66,389,171 (GRCm39)	Q3896L	probably benign	Het
Ikbip	C	A	10: 90,919,090 (GRCm39)	D34E	probably benign	Het
Insr	A	G	8: 3,308,481 (GRCm39)	V185A	probably benign	Het
Jakmip1	C	T	5: 37,332,109 (GRCm39)	Q930*	probably null	Het
Klc1	A	G	12: 111,743,299 (GRCm39)	I209V	probably benign	Het
Lrrk2	T	A	15: 91,648,985 (GRCm39)	L1660M	probably damaging	Het
Mbd3l1	G	T	9: 18,396,210 (GRCm39)	D112Y	possibly damaging	Het
Mrps2	T	A	2: 28,358,258 (GRCm39)	V16E	probably benign	Het
Ncoa1	G	A	12: 4,372,978 (GRCm39)	T141I	possibly damaging	Het
Ndst2	G	T	14: 20,779,911 (GRCm39)	R110S	probably damaging	Het
Nlrp2	A	G	7: 5,331,616 (GRCm39)	V260A	probably damaging	Het
Or4d10	A	G	19: 12,051,576 (GRCm39)	I140T	probably benign	Het
Or51a6	A	T	7: 102,604,460 (GRCm39)	V116E	probably damaging	Het
Or5p1	A	G	7: 107,916,959 (GRCm39)	N286S	probably damaging	Het
Or7g16	A	T	9: 18,726,904 (GRCm39)	S229T	probably benign	Het
Pah	T	C	10: 87,406,148 (GRCm39)	V262A	probably damaging	Het
Pcnt	T	G	10: 76,205,738 (GRCm39)	E2538A	probably damaging	Het
Plod2	T	C	9: 92,455,650 (GRCm39)	F110L	probably damaging	Het
Pm20d2	A	T	4: 33,187,186 (GRCm39)	L154Q	probably damaging	Het
Podxl2	C	T	6: 88,820,566 (GRCm39)	V445I	possibly damaging	Het
Ppp1r3a	A	T	6: 14,719,235 (GRCm39)	W560R	probably benign	Het
Rasal3	A	G	17: 32,611,683 (GRCm39)	S815P	probably damaging	Het
Rdm1	A	G	11: 101,524,654 (GRCm39)	K196E	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,181,286 (GRCm39)	D79G	possibly damaging	Het
Slc22a21	A	G	11: 53,870,329 (GRCm39)	Y119H	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Synrg	C	A	11: 83,930,498 (GRCm39)	A1280E	possibly damaging	Het
Szt2	A	G	4: 118,232,676 (GRCm39)	C2396R	unknown	Het
Trappc3	A	G	4: 126,167,726 (GRCm39)	N95S	probably benign	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Ush2a	T	A	1: 188,113,681 (GRCm39)	D633E	probably benign	Het
Wasl	G	A	6: 24,633,186 (GRCm39)	P151S	probably benign	Het
Wwp2	A	G	8: 108,209,988 (GRCm39)	N122S	probably benign	Het
Zfp51	A	G	17: 21,683,831 (GRCm39)	R149G	possibly damaging	Het
Zfp764	A	G	7: 127,003,887 (GRCm39)	S415P	possibly damaging	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
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
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'- GACTGAGTATAGAGCTGACAGATC -3'
(R):5'- ACTGTTGGGAGCATCACCATG -3'

Sequencing Primer
(F):5'- CAGTCAGTGACAAGGTGCACATC -3'
(R):5'- CTGTTGGGAGCATCACCATGTATAC -3'

Posted On

2019-05-15