Incidental Mutation 'R5847:Pdxk'
ID502011
Institutional Source Beutler Lab
Gene Symbol Pdxk
Ensembl Gene ENSMUSG00000032788
Gene Namepyridoxal (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 Score70
Status Validated
Chromosome10
Chromosomal Location78436744-78464975 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 78445038 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 189 (D189E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041616]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.096 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 unclassified 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
Predicted Primers PCR Primer
(F):5'- GCTGACCCAGTATGAGCTTCTTC -3'
(R):5'- TGCAAAGTTCCAGGGTCTCTG -3'

Sequencing Primer
(F):5'- AGTATGAGCTTCTTCCTATTGAGC -3'
(R):5'- GTCTCTGGAAGCCCATCAAG -3'
Posted On2018-02-16