Mutagenetix > Incidental Mutation

Incidental Mutation 'R7629:Pdxk'

589555

Institutional Source

Beutler Lab

Gene Symbol

Pdxk

Ensembl Gene

ENSMUSG00000032788

Gene Name

pyridoxal (pyridoxine, vitamin B6) kinase

Synonyms

2310036D04Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78272581-78300782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78280840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 200 (I200T)

Ref Sequence

ENSEMBL: ENSMUSP00000038540 (fasta)

Gene Model

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

AlphaFold

Q8K183

Predicted Effect

probably benign
Transcript: ENSMUST00000041616
AA Change: I200T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038540
Gene: ENSMUSG00000032788
AA Change: I200T

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: 99.8%
20x: 99.2%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,504,293 (GRCm39)	T168I	probably benign	Het
Abtb2	T	A	2: 103,513,838 (GRCm39)		probably null	Het
Ankrd10	A	T	8: 11,665,769 (GRCm39)	V277E	probably benign	Het
Ankrd28	C	T	14: 31,437,221 (GRCm39)	V615I	probably benign	Het
Aqr	G	A	2: 113,945,074 (GRCm39)	P1079L	probably damaging	Het
Brox	G	A	1: 183,074,068 (GRCm39)	A60V	probably damaging	Het
Copg1	T	C	6: 87,871,151 (GRCm39)	V289A	possibly damaging	Het
Cplane1	C	T	15: 8,256,551 (GRCm39)	Q2004*	probably null	Het
Dido1	T	C	2: 180,303,266 (GRCm39)	N1546S	probably benign	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,992,337 (GRCm39)	I361N	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,887,374 (GRCm39)	D88E	probably benign	Het
Flywch1	A	G	17: 23,974,744 (GRCm39)	M632T	probably benign	Het
Henmt1	A	G	3: 108,865,913 (GRCm39)	T213A	probably benign	Het
Itga9	T	C	9: 118,527,514 (GRCm39)	V555A	probably benign	Het
Katnip	T	C	7: 125,394,422 (GRCm39)	L192P	probably damaging	Het
Kif13b	C	T	14: 65,016,784 (GRCm39)	R1317*	probably null	Het
Kndc1	A	T	7: 139,475,176 (GRCm39)	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675 (GRCm39)	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,509,283 (GRCm39)	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,347,310 (GRCm39)		probably null	Het
Mgat4c	G	A	10: 102,224,931 (GRCm39)	V382I	probably benign	Het
Muc16	T	C	9: 18,478,081 (GRCm39)	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,760,325 (GRCm39)		probably null	Het
Neb	T	C	2: 52,163,973 (GRCm39)	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,198,560 (GRCm39)	V75A	possibly damaging	Het
Or4k35	C	T	2: 111,100,221 (GRCm39)	V164I	probably benign	Het
Paf1	T	C	7: 28,094,493 (GRCm39)	Y35H	probably damaging	Het
Pals2	T	C	6: 50,173,603 (GRCm39)	I489T	probably benign	Het
Panx3	T	A	9: 37,572,740 (GRCm39)	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,936,317 (GRCm39)	R20L	possibly damaging	Het
Ppara	A	T	15: 85,682,392 (GRCm39)	M363L	probably damaging	Het
Prmt8	A	T	6: 127,666,846 (GRCm39)	L376*	probably null	Het
Serpina1a	G	C	12: 103,820,067 (GRCm39)	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,247,041 (GRCm39)	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,902,559 (GRCm39)	W7R	possibly damaging	Het
Skint5	T	C	4: 113,799,857 (GRCm39)	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,764,191 (GRCm39)	T195S	probably damaging	Het
Slc2a6	T	C	2: 26,914,214 (GRCm39)	D301G	probably benign	Het
Stab2	A	T	10: 86,719,646 (GRCm39)		probably null	Het
Tctn3	C	G	19: 40,599,780 (GRCm39)	D141H	probably damaging	Het
Tnik	A	G	3: 28,715,877 (GRCm39)	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,676,002 (GRCm39)	V711I	probably benign	Het
Trim11	G	A	11: 58,869,160 (GRCm39)	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 84,910,681 (GRCm39)		probably null	Het
Vmn1r72	T	C	7: 11,403,711 (GRCm39)	I246V	probably benign	Het
Zfp362	G	T	4: 128,679,848 (GRCm39)	R273S	probably damaging	Het
Zfp715	T	C	7: 42,951,100 (GRCm39)	D66G	possibly damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	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
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
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
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'- TGAGTCTGCTTATGTCCCCAG -3'
(R):5'- TGCAGAGAGGACAGTGACCTAC -3'

Sequencing Primer
(F):5'- TGTCTGACTCTCCTGGGGGAC -3'
(R):5'- ACAGTGACCTACAGGGGC -3'

Posted On

2019-10-24