Incidental Mutation 'IGL02556:Pdxk'
ID |
298515 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02556
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
78272581-78300782 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 78287319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 81
(L81F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041616]
|
AlphaFold |
Q8K183 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041616
AA Change: L81F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038540 Gene: ENSMUSG00000032788 AA Change: L81F
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: L81F
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: ENSMUST00000218245
|
Coding Region Coverage |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
G |
10: 100,446,579 (GRCm39) |
|
probably null |
Het |
Ace |
A |
G |
11: 105,863,353 (GRCm39) |
D376G |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,458,654 (GRCm39) |
T1252I |
probably damaging |
Het |
Bhmt |
T |
C |
13: 93,774,008 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
T |
C |
2: 91,425,186 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,299,065 (GRCm39) |
T37A |
probably benign |
Het |
Cnmd |
C |
T |
14: 79,899,400 (GRCm39) |
V18I |
probably benign |
Het |
Cryl1 |
C |
T |
14: 57,513,478 (GRCm39) |
V248M |
probably benign |
Het |
D830039M14Rik |
C |
T |
10: 61,311,262 (GRCm39) |
|
probably benign |
Het |
Dido1 |
T |
C |
2: 180,331,128 (GRCm39) |
T107A |
possibly damaging |
Het |
Efna5 |
C |
A |
17: 62,958,023 (GRCm39) |
V78F |
probably damaging |
Het |
Eml1 |
A |
G |
12: 108,503,625 (GRCm39) |
I741V |
probably benign |
Het |
Gfap |
A |
G |
11: 102,787,780 (GRCm39) |
L55P |
probably damaging |
Het |
Itga6 |
A |
G |
2: 71,669,027 (GRCm39) |
I606V |
probably benign |
Het |
Kif2c |
G |
T |
4: 117,019,802 (GRCm39) |
D579E |
probably damaging |
Het |
Lef1 |
T |
C |
3: 130,988,442 (GRCm39) |
|
probably null |
Het |
Lrrc1 |
T |
A |
9: 77,342,404 (GRCm39) |
I357L |
probably benign |
Het |
Lrrc37 |
A |
G |
11: 103,504,109 (GRCm39) |
S2620P |
probably benign |
Het |
Map3k20 |
T |
A |
2: 72,202,239 (GRCm39) |
F157I |
probably damaging |
Het |
Naga |
A |
T |
15: 82,214,337 (GRCm39) |
N391K |
probably damaging |
Het |
Ncaph |
T |
C |
2: 126,968,025 (GRCm39) |
|
probably benign |
Het |
Or11g2 |
C |
A |
14: 50,856,185 (GRCm39) |
Q169K |
probably benign |
Het |
Or12d13 |
T |
A |
17: 37,647,887 (GRCm39) |
M79L |
probably benign |
Het |
Or5ae1 |
T |
G |
7: 84,565,567 (GRCm39) |
Y193* |
probably null |
Het |
Or6b9 |
T |
A |
7: 106,555,598 (GRCm39) |
I182F |
possibly damaging |
Het |
Or6c2b |
T |
G |
10: 128,947,904 (GRCm39) |
Y130S |
probably damaging |
Het |
Or8g55 |
T |
A |
9: 39,784,906 (GRCm39) |
C112S |
possibly damaging |
Het |
Pappa |
C |
A |
4: 65,074,863 (GRCm39) |
D472E |
possibly damaging |
Het |
Pkhd1 |
G |
T |
1: 20,380,934 (GRCm39) |
T2635K |
probably damaging |
Het |
Psmb6 |
A |
T |
11: 70,417,248 (GRCm39) |
H99L |
possibly damaging |
Het |
Ptpn6 |
C |
T |
6: 124,705,623 (GRCm39) |
G135E |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 22,972,844 (GRCm39) |
D251E |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,689,234 (GRCm39) |
V1955A |
possibly damaging |
Het |
Rsph4a |
T |
C |
10: 33,781,148 (GRCm39) |
|
probably benign |
Het |
Sh2d4b |
T |
C |
14: 40,542,700 (GRCm39) |
T359A |
probably benign |
Het |
Sh3bp5l |
A |
G |
11: 58,237,087 (GRCm39) |
D348G |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,797,932 (GRCm39) |
M217K |
probably damaging |
Het |
Slc30a6 |
T |
C |
17: 74,711,054 (GRCm39) |
L49P |
probably damaging |
Het |
Slc8a1 |
C |
T |
17: 81,956,173 (GRCm39) |
M288I |
probably benign |
Het |
Tmem127 |
C |
A |
2: 127,097,922 (GRCm39) |
|
probably null |
Het |
Tnfrsf17 |
T |
C |
16: 11,131,811 (GRCm39) |
|
probably benign |
Het |
Trak1 |
A |
T |
9: 121,277,967 (GRCm39) |
N341I |
probably damaging |
Het |
Ubr5 |
A |
G |
15: 38,002,692 (GRCm39) |
I1453T |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,944,709 (GRCm39) |
|
probably null |
Het |
Xrn2 |
T |
C |
2: 146,880,216 (GRCm39) |
|
probably benign |
Het |
Zscan10 |
C |
T |
17: 23,827,119 (GRCm39) |
A144V |
possibly damaging |
Het |
|
Other mutations in Pdxk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |