Incidental Mutation 'R2962:Pdxk'
ID |
255930 |
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)
|
Stock # |
R2962 (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 78279667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 236
(L236P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041616]
|
AlphaFold |
Q8K183 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041616
AA Change: L236P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038540 Gene: ENSMUSG00000032788 AA Change: L236P
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 |
|
SMART Domains |
Protein: ENSMUSP00000101024 Gene: ENSMUSG00000032788 AA Change: L236P
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218544
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd24a |
A |
G |
10: 43,455,313 (GRCm39) |
T22A |
probably benign |
Het |
Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
Cog3 |
A |
G |
14: 75,977,974 (GRCm39) |
|
probably null |
Het |
Gm3371 |
A |
T |
14: 44,646,155 (GRCm39) |
N103K |
probably benign |
Het |
Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
Hoxc10 |
A |
G |
15: 102,875,735 (GRCm39) |
Y148C |
probably damaging |
Het |
Jade1 |
C |
G |
3: 41,567,762 (GRCm39) |
T610S |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lhfpl7 |
T |
C |
5: 113,385,922 (GRCm39) |
V123A |
possibly damaging |
Het |
Malt1 |
A |
G |
18: 65,581,406 (GRCm39) |
H278R |
probably benign |
Het |
Mlxip |
C |
A |
5: 123,578,887 (GRCm39) |
R178S |
probably damaging |
Het |
Or13a25 |
A |
T |
7: 140,247,862 (GRCm39) |
M214L |
probably benign |
Het |
Plekhg3 |
G |
A |
12: 76,619,433 (GRCm39) |
|
probably null |
Het |
Rufy2 |
G |
T |
10: 62,836,039 (GRCm39) |
V323F |
probably damaging |
Het |
Serpinb7 |
A |
G |
1: 107,379,456 (GRCm39) |
T288A |
probably benign |
Het |
Tet1 |
A |
T |
10: 62,650,323 (GRCm39) |
C1628* |
probably null |
Het |
Tgtp2 |
A |
G |
11: 48,950,363 (GRCm39) |
S70P |
probably damaging |
Het |
Trank1 |
C |
T |
9: 111,181,148 (GRCm39) |
T390I |
probably damaging |
Het |
Trim31 |
T |
C |
17: 37,210,796 (GRCm39) |
S143P |
probably damaging |
Het |
Ube3c |
C |
A |
5: 29,863,416 (GRCm39) |
A897D |
possibly damaging |
Het |
Unc79 |
A |
T |
12: 103,061,378 (GRCm39) |
T1050S |
possibly damaging |
Het |
Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
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 |
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 |
|
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'- GTAAACATGGTCCCCTCCAC -3'
(R):5'- ACAAGTTGGGCTGATAGGTTC -3'
Sequencing Primer
(F):5'- CACAGACTCTTGGCTCAGG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2014-12-29 |