Incidental Mutation 'R4980:Pdxk'
ID 384758
Institutional Source Beutler Lab
Gene Symbol Pdxk
Ensembl Gene ENSMUSG00000032788
Gene Name pyridoxal (pyridoxine, vitamin B6) kinase
Synonyms 2310036D04Rik
MMRRC Submission 042575-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4980 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 78272581-78300782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78287318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 81 (L81P)
Ref Sequence ENSEMBL: ENSMUSP00000038540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041616]
AlphaFold Q8K183
Predicted Effect probably damaging
Transcript: ENSMUST00000041616
AA Change: L81P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038540
Gene: ENSMUSG00000032788
AA Change: L81P

DomainStartEndE-ValueType
Pfam:Phos_pyr_kin 69 285 1.4e-18 PFAM
Pfam:PfkB 95 277 1.3e-9 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000101024
Gene: ENSMUSG00000032788
AA Change: L81P

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: ENSMUST00000218245
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,292 (GRCm39) C189S probably damaging Het
Abcd3 A T 3: 121,562,917 (GRCm39) probably null Het
Adar T C 3: 89,638,121 (GRCm39) S2P probably benign Het
Amhr2 T A 15: 102,362,765 (GRCm39) S511T probably benign Het
Atg16l1 T C 1: 87,694,553 (GRCm39) S77P possibly damaging Het
Bltp1 T C 3: 36,997,461 (GRCm39) S1173P probably damaging Het
Cacna1i T C 15: 80,232,650 (GRCm39) F218L probably damaging Het
Cd5l A T 3: 87,274,908 (GRCm39) H149L probably benign Het
Cdc14a T A 3: 116,186,506 (GRCm39) R92* probably null Het
Col19a1 T C 1: 24,565,564 (GRCm39) T256A unknown Het
Col22a1 C T 15: 71,673,792 (GRCm39) A975T unknown Het
Cracd A T 5: 77,005,421 (GRCm39) D594V unknown Het
Cyp20a1 T C 1: 60,402,373 (GRCm39) W153R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dpyd T C 3: 118,710,767 (GRCm39) S392P probably damaging Het
Dst A T 1: 34,295,369 (GRCm39) L957F probably damaging Het
Emilin2 G T 17: 71,560,066 (GRCm39) D970E possibly damaging Het
Fbn2 T C 18: 58,143,703 (GRCm39) E2784G probably benign Het
Fbxw10 T C 11: 62,738,583 (GRCm39) I159T possibly damaging Het
Fgfr2 T C 7: 129,802,810 (GRCm39) Y192C probably damaging Het
Gm7298 A G 6: 121,736,198 (GRCm39) probably null Het
Igf2r C T 17: 12,922,247 (GRCm39) probably null Het
Ints4 T C 7: 97,151,057 (GRCm39) probably null Het
Kcnf1 A G 12: 17,225,012 (GRCm39) F403S possibly damaging Het
Kif11 C T 19: 37,375,819 (GRCm39) Q211* probably null Het
Kif13a A G 13: 46,906,222 (GRCm39) S574P possibly damaging Het
Kifc3 T A 8: 95,853,177 (GRCm39) T60S probably benign Het
Krt82 T C 15: 101,453,534 (GRCm39) D284G possibly damaging Het
Lancl1 T C 1: 67,043,968 (GRCm39) Y344C probably benign Het
Ltbp3 A T 19: 5,803,955 (GRCm39) probably null Het
Map3k4 A G 17: 12,490,958 (GRCm39) F158L probably damaging Het
Mast2 A G 4: 116,174,948 (GRCm39) Y469H probably damaging Het
Mcf2l T G 8: 13,034,883 (GRCm39) F97C probably damaging Het
Mpeg1 T C 19: 12,438,904 (GRCm39) S121P probably damaging Het
Mycbp2 A T 14: 103,497,821 (GRCm39) probably null Het
Myt1l A T 12: 29,877,038 (GRCm39) T230S unknown Het
Naa15 T C 3: 51,366,173 (GRCm39) probably null Het
Nans G A 4: 46,492,764 (GRCm39) R64Q probably benign Het
Nbea C T 3: 55,554,772 (GRCm39) probably null Het
Nbea T C 3: 55,860,466 (GRCm39) E1870G probably benign Het
Ncapd3 T C 9: 26,974,591 (GRCm39) S688P probably damaging Het
Nedd4l G T 18: 65,213,131 (GRCm39) E96* probably null Het
Or56a5 T A 7: 104,793,431 (GRCm39) Y23F probably benign Het
Or5b21 A T 19: 12,839,384 (GRCm39) M82L probably benign Het
Plec T A 15: 76,077,495 (GRCm39) R269* probably null Het
Plec T C 15: 76,090,065 (GRCm39) I92V probably damaging Het
Ppara T C 15: 85,671,434 (GRCm39) Y112H probably damaging Het
Ppp2r2c A T 5: 37,109,732 (GRCm39) M364L probably benign Het
Prag1 A C 8: 36,606,740 (GRCm39) H827P probably damaging Het
Ptprg A G 14: 12,154,421 (GRCm38) N714S probably benign Het
Rbp2 G A 9: 98,380,894 (GRCm39) V67I probably benign Het
Rictor T A 15: 6,811,141 (GRCm39) Y835N probably damaging Het
Ripply2 A G 9: 86,901,747 (GRCm39) Q91R probably damaging Het
Sap130 C A 18: 31,782,699 (GRCm39) H203Q possibly damaging Het
Sema4d T C 13: 51,865,270 (GRCm39) Y358C probably damaging Het
Serbp1 G A 6: 67,254,872 (GRCm39) D294N probably benign Het
Slc16a10 A G 10: 39,956,801 (GRCm39) W113R probably damaging Het
Slc6a6 A G 6: 91,703,041 (GRCm39) Y138C probably damaging Het
Spag11a T C 8: 19,207,962 (GRCm39) M1T probably null Het
Spata20 T C 11: 94,375,435 (GRCm39) M120V probably damaging Het
Stk32a A C 18: 43,447,113 (GRCm39) K357Q probably benign Het
Tasor T A 14: 27,183,382 (GRCm39) L614I probably benign Het
Trmo A T 4: 46,389,364 (GRCm39) C10* probably null Het
Tsc22d1 T G 14: 76,655,696 (GRCm39) V643G probably benign Het
Vangl2 A T 1: 171,837,132 (GRCm39) L226I probably damaging Het
Vps35l T A 7: 118,406,232 (GRCm39) D605E probably damaging Het
Wnt3a A T 11: 59,140,626 (GRCm39) C297S probably damaging Het
Wwc1 T C 11: 35,778,930 (GRCm39) K301E possibly damaging Het
Zfhx4 C T 3: 5,464,039 (GRCm39) T1399I possibly damaging Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null Het
Other mutations in Pdxk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GTATTGCACCCTCAACCTGG -3'
(R):5'- CTAAGGCCAGTCCTCAGAAG -3'

Sequencing Primer
(F):5'- CTCAACCTGGGGTGGCG -3'
(R):5'- TCACTGGGTCTCCTCAAGG -3'
Posted On 2016-05-10