Mutagenetix > Incidental Mutation

Incidental Mutation 'R5847:Pdxk'

502011

Institutional Source

Beutler Lab

Gene Symbol

Pdxk

Ensembl Gene

ENSMUSG00000032788

Gene Name

pyridoxal (pyridoxine, vitamin B6) kinase

Synonyms

MMRRC Submission

044065-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5847 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

78436744-78464975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78445038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 189 (D189E)

Gene Model

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

AlphaFold

Q8K183

Predicted Effect

probably benign
Transcript: ENSMUST00000041616
AA Change: D189E

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

SMART Domains

Protein: ENSMUSP00000038540
Gene: ENSMUSG00000032788
AA Change: D189E

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

probably benign
Transcript: ENSMUST00000105385
AA Change: D189E

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

SMART Domains

Protein: ENSMUSP00000101024
Gene: ENSMUSG00000032788
AA Change: D189E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218245

Meta Mutation Damage Score

0.0982

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (62/62)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	A	6: 48,933,478	F701L	probably damaging	Het
4931409K22Rik	A	T	5: 24,544,166	L778Q	probably benign	Het
Adgrg6	T	A	10: 14,426,777	Y964F	probably damaging	Het
Akap3	T	A	6: 126,865,558	L380Q	probably damaging	Het
Alpk1	A	G	3: 127,680,074	I760T	probably benign	Het
Arhgap20	G	A	9: 51,824,976		probably benign	Het
Cacng3	T	C	7: 122,762,309	F113S	possibly damaging	Het
Ccdc158	G	T	5: 92,627,480	N955K	probably benign	Het
Ccdc63	T	A	5: 122,116,845	M368L	possibly damaging	Het
Cnot2	T	C	10: 116,527,946	T18A	probably damaging	Het
Ctnna2	A	T	6: 76,973,837	D550E	possibly damaging	Het
Cyp2c37	C	T	19: 40,011,732	R433W	probably damaging	Het
Dact2	A	G	17: 14,199,188	S103P	probably damaging	Het
Dek	A	G	13: 47,101,601		probably benign	Het
Dnah9	CAGTTGCTTAAA	CA	11: 66,095,240		probably null	Het
Dock4	A	G	12: 40,621,251	Y23C	probably damaging	Het
Edar	T	A	10: 58,603,179	S344C	probably damaging	Het
Epg5	T	C	18: 78,030,055	V2431A	probably benign	Het
Evc2	C	T	5: 37,404,724		probably benign	Het
Idh3b	A	T	2: 130,284,028	D41E	probably benign	Het
Igkv8-24	A	T	6: 70,216,972	V84D	probably damaging	Het
Mgam	T	C	6: 40,684,055	I1118T	probably benign	Het
Mtmr3	A	G	11: 4,482,925	V1116A	probably damaging	Het
Myoc	A	G	1: 162,639,367	Y35C	probably damaging	Het
Ncr1	A	T	7: 4,344,574	D246V	probably benign	Het
Nphp3	A	G	9: 104,003,037	E86G	probably damaging	Het
Olfr1097	A	C	2: 86,890,332	V281G	probably damaging	Het
Olfr168	A	T	16: 19,530,326	V198E	probably damaging	Het
Olfr678	A	T	7: 105,069,857	Y130F	probably benign	Het
Pbld1	A	T	10: 63,076,414	I275L	probably benign	Het
Pde12	A	G	14: 26,665,631	V574A	possibly damaging	Het
Pkhd1	C	A	1: 20,374,736	E2276*	probably null	Het
Ppp1r10	A	G	17: 35,926,847	N237S	possibly damaging	Het
Rheb	T	A	5: 24,807,069	Y131F	probably benign	Het
Rpgrip1l	T	C	8: 91,304,985	D88G	probably damaging	Het
Scgb2b33	T	C	7: 33,112,814		noncoding transcript	Het
Snx9	C	A	17: 5,924,621	N461K	possibly damaging	Het
Tbc1d2b	C	A	9: 90,209,724	V842F	probably damaging	Het
Tgfbi	G	A	13: 56,636,605	E615K	possibly damaging	Het
Tmem51	A	G	4: 142,032,035	M134T	probably damaging	Het
Tox4	A	G	14: 52,286,784	D125G	probably damaging	Het
Trappc3	A	T	4: 126,273,978	N110I	probably damaging	Het
Trim11	T	A	11: 58,990,593	D437E	probably damaging	Het
Ttc23l	T	C	15: 10,537,596	N196S	probably benign	Het
Wnk1	C	A	6: 119,992,408	G362V	probably damaging	Het
Wwc1	A	G	11: 35,867,326	F731S	probably damaging	Het
Wwp1	A	T	4: 19,662,174	D140E	possibly damaging	Het
Zfp24	G	A	18: 24,018,038	P17L	possibly damaging	Het
Zfp354b	T	C	11: 50,923,216	E294G	probably damaging	Het
Zfp853	C	T	5: 143,288,669	V399M	unknown	Het
Zfp868	T	C	8: 69,611,652	H344R	probably damaging	Het

Other mutations in Pdxk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02556:Pdxk	APN	10	78451485	missense	probably damaging	1.00
R1434:Pdxk	UTSW	10	78440811	missense	probably benign	0.01
R1572:Pdxk	UTSW	10	78447980	missense	probably damaging	1.00
R1719:Pdxk	UTSW	10	78443896	missense	probably benign
R1970:Pdxk	UTSW	10	78441154	missense	probably damaging	1.00
R2962:Pdxk	UTSW	10	78443833	missense	probably damaging	1.00
R4094:Pdxk	UTSW	10	78464810	missense	probably damaging	1.00
R4095:Pdxk	UTSW	10	78464810	missense	probably damaging	1.00
R4613:Pdxk	UTSW	10	78447919	missense	probably damaging	0.99
R4686:Pdxk	UTSW	10	78447003	splice site	probably null
R4783:Pdxk	UTSW	10	78464792	missense	possibly damaging	0.72
R4980:Pdxk	UTSW	10	78451484	missense	probably damaging	1.00
R5076:Pdxk	UTSW	10	78450307	missense	probably benign
R6145:Pdxk	UTSW	10	78443791	missense	probably benign	0.44
R7109:Pdxk	UTSW	10	78446976	missense	probably damaging	1.00
R7399:Pdxk	UTSW	10	78440863	missense	probably benign	0.00
R7445:Pdxk	UTSW	10	78447967	missense	probably benign
R7629:Pdxk	UTSW	10	78445006	missense	probably benign
R7700:Pdxk	UTSW	10	78443930	splice site	probably null
R7936:Pdxk	UTSW	10	78441178	missense	possibly damaging	0.93
R8178:Pdxk	UTSW	10	78453504	missense	probably damaging	0.99
R8780:Pdxk	UTSW	10	78447952	missense	probably benign	0.04
R8783:Pdxk	UTSW	10	78451505	missense	probably benign	0.06
R8964:Pdxk	UTSW	10	78447937	missense	probably benign	0.17
R9658:Pdxk	UTSW	10	78451569	missense	probably benign	0.07
Z1176:Pdxk	UTSW	10	78441188	missense	probably damaging	1.00
Z1177:Pdxk	UTSW	10	78443905	missense	probably benign	0.33
Z1189:Pdxk	UTSW	10	78445061	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GCTGACCCAGTATGAGCTTCTTC -3'
(R):5'- TGCAAAGTTCCAGGGTCTCTG -3'

Sequencing Primer
(F):5'- AGTATGAGCTTCTTCCTATTGAGC -3'
(R):5'- GTCTCTGGAAGCCCATCAAG -3'

Posted On

2018-02-16