Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Pdxk'

574043

Institutional Source

Beutler Lab

Gene Symbol

Pdxk

Ensembl Gene

ENSMUSG00000032788

Gene Name

pyridoxal (pyridoxine, vitamin B6) kinase

Synonyms

2310036D04Rik

MMRRC Submission

045481-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78272581-78300782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78276697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 293 (M293V)

Ref Sequence

ENSEMBL: ENSMUSP00000038540 (fasta)

Gene Model

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

AlphaFold

Q8K183

Predicted Effect

probably benign
Transcript: ENSMUST00000041616
AA Change: M293V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000038540
Gene: ENSMUSG00000032788
AA Change: M293V

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

Meta Mutation Damage Score

0.3362

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,151,505 (GRCm39)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,392,127 (GRCm39)	M154K	probably benign	Het
Adam7	A	T	14: 68,741,915 (GRCm39)		probably null	Het
Arfgef1	T	A	1: 10,251,122 (GRCm39)	T888S	probably benign	Het
AW554918	C	T	18: 25,302,117 (GRCm39)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,680,881 (GRCm39)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cby2	A	G	14: 75,830,077 (GRCm39)	S39P	probably benign	Het
Cdc25b	A	G	2: 131,036,574 (GRCm39)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,272,101 (GRCm39)	K1104R	probably benign	Het
Cep89	A	G	7: 35,137,803 (GRCm39)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,968,788 (GRCm39)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,503,422 (GRCm39)	L270P	probably damaging	Het
Dennd5b	G	T	6: 148,937,981 (GRCm39)	H639N	probably damaging	Het
Dnah11	T	G	12: 117,991,212 (GRCm39)	T2385P	probably benign	Het
Dnah11	T	C	12: 118,089,520 (GRCm39)	E1182G	probably damaging	Het
Dok7	T	C	5: 35,223,815 (GRCm39)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,820,458 (GRCm39)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,223,080 (GRCm39)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Hnmt	T	A	2: 23,893,892 (GRCm39)	T201S	probably benign	Het
Jup	G	T	11: 100,269,177 (GRCm39)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,527,057 (GRCm39)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,272,847 (GRCm39)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,461,424 (GRCm39)	S14T	probably benign	Het
Lama4	G	A	10: 38,923,944 (GRCm39)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,441,399 (GRCm39)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,614,901 (GRCm39)	D239N		Het
Mgam	T	A	6: 40,643,788 (GRCm39)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,201,890 (GRCm39)	N278K	probably damaging	Het
Msto1	A	G	3: 88,819,130 (GRCm39)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,169,573 (GRCm39)	S467G	unknown	Het
Mysm1	T	A	4: 94,849,964 (GRCm39)	I447L	probably benign	Het
Nav3	T	C	10: 109,688,795 (GRCm39)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,452,174 (GRCm39)	V376G	probably damaging	Het
Nup205	T	A	6: 35,191,611 (GRCm39)	I1032N	probably damaging	Het
Oog2	A	G	4: 143,921,851 (GRCm39)	K254E	probably benign	Het
Or10ac1	A	G	6: 42,515,662 (GRCm39)	F98S	possibly damaging	Het
Or52z12	A	T	7: 103,233,588 (GRCm39)	I120L	possibly damaging	Het
Or5b98	A	G	19: 12,931,811 (GRCm39)	N286S	probably damaging	Het
Or5d41	A	T	2: 88,055,366 (GRCm39)	Y3*	probably null	Het
Or5g25	T	A	2: 85,477,768 (GRCm39)	D299V	possibly damaging	Het
Or5g27	A	G	2: 85,409,640 (GRCm39)	D19G	probably benign	Het
Or6b1	T	G	6: 42,815,680 (GRCm39)	Y288*	probably null	Het
Or6c6	A	T	10: 129,186,426 (GRCm39)		probably benign	Het
Or8h10	G	A	2: 86,808,501 (GRCm39)	T213I	probably benign	Het
Osbpl11	T	A	16: 33,056,649 (GRCm39)	D694E	probably benign	Het
Pcm1	T	A	8: 41,746,547 (GRCm39)	Y1210N	probably benign	Het
Plcb3	T	C	19: 6,940,235 (GRCm39)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,361,687 (GRCm39)	F272S	probably damaging	Het
Pramel32	C	A	4: 88,546,202 (GRCm39)	R380L	probably benign	Het
Ptgdr	A	T	14: 45,095,689 (GRCm39)		probably null	Het
Ptprf	C	T	4: 118,083,720 (GRCm39)	V788I	probably benign	Het
Ralbp1	C	T	17: 66,161,143 (GRCm39)	V467I	probably benign	Het
Ralgds	A	C	2: 28,433,667 (GRCm39)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,320,610 (GRCm39)	D146G	probably damaging	Het
Reln	T	C	5: 22,256,365 (GRCm39)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,587,936 (GRCm39)		probably null	Het
Scn5a	A	T	9: 119,315,596 (GRCm39)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,611,725 (GRCm39)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,036,794 (GRCm39)	C538S	probably benign	Het
Stard6	T	C	18: 70,631,718 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,927,612 (GRCm39)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,174,911 (GRCm39)	V122A	probably damaging	Het
Tha1	A	G	11: 117,760,516 (GRCm39)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,815,554 (GRCm39)	I132N	possibly damaging	Het
Tnc	T	C	4: 63,938,894 (GRCm39)		probably benign	Het
Vmn1r42	T	C	6: 89,822,495 (GRCm39)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,464,765 (GRCm39)		probably null	Het
Wdfy4	A	C	14: 32,790,863 (GRCm39)	V2188G		Het
Zfp623	T	C	15: 75,819,247 (GRCm39)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,107,593 (GRCm39)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,079,327 (GRCm39)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,504,790 (GRCm39)	V536L	probably 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
R7109:Pdxk	UTSW	10	78,282,810 (GRCm39)	missense	probably damaging	1.00
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'- TTCACGCTAGAGACTGGCTG -3'
(R):5'- CCTCCTGCTATGTTAGAAGTGAGG -3'

Sequencing Primer
(F):5'- TAGAGACTGGCTGAGACCC -3'
(R):5'- TGCTATGTTAGAAGTGAGGCAGCAG -3'

Posted On

2019-09-13