Incidental Mutation 'R8780:Pdxk'
| ID |
670213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdxk
|
| Ensembl Gene |
ENSMUSG00000032788 |
| Gene Name |
pyridoxal (pyridoxine, vitamin B6) kinase |
| Synonyms |
2310036D04Rik |
| MMRRC Submission |
068604-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8780 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78272581-78300782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78283786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 136
(Y136F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041616]
|
| AlphaFold |
Q8K183 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041616
AA Change: Y136F
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000038540
Gene: ENSMUSG00000032788
AA Change: Y136F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phos_pyr_kin
|
69 |
285 |
1.4e-18 |
PFAM |
|
Pfam:PfkB
|
95 |
277 |
1.3e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.2775 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (38/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
G |
11: 105,888,364 (GRCm39) |
D358G |
probably damaging |
Het |
| Actmap |
T |
C |
7: 26,900,503 (GRCm39) |
S161P |
probably benign |
Het |
| Adgrd1 |
G |
A |
5: 129,174,138 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
C |
A |
11: 53,271,444 (GRCm39) |
T327K |
probably damaging |
Het |
| Ajap1 |
A |
G |
4: 153,470,961 (GRCm39) |
V282A |
probably damaging |
Het |
| Arrb1 |
A |
G |
7: 99,240,568 (GRCm39) |
D194G |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,680,979 (GRCm39) |
N836S |
probably damaging |
Het |
| C1ql3 |
A |
G |
2: 13,015,567 (GRCm39) |
V31A |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,896,692 (GRCm39) |
T1530A |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,164,209 (GRCm39) |
I804K |
probably damaging |
Het |
| Chmp2b |
G |
A |
16: 65,359,422 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
T |
A |
2: 112,310,453 (GRCm39) |
E221V |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,878,796 (GRCm39) |
H120Q |
probably damaging |
Het |
| Esp16 |
C |
T |
17: 39,850,729 (GRCm39) |
A36V |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,682,308 (GRCm39) |
S283T |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,264,179 (GRCm39) |
L773S |
probably damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,175,825 (GRCm39) |
W188R |
probably damaging |
Het |
| Msantd2 |
T |
G |
9: 37,434,798 (GRCm39) |
L547R |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Obi1 |
A |
T |
14: 104,717,082 (GRCm39) |
C430* |
probably null |
Het |
| Or4a15 |
A |
T |
2: 89,193,652 (GRCm39) |
N40K |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,653 (GRCm39) |
F177L |
possibly damaging |
Het |
| Pcdhga5 |
G |
A |
18: 37,828,826 (GRCm39) |
V425I |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,075,410 (GRCm39) |
F503L |
probably benign |
Het |
| Prss54 |
T |
C |
8: 96,286,057 (GRCm39) |
I339V |
probably benign |
Het |
| Repin1 |
T |
C |
6: 48,574,073 (GRCm39) |
I334T |
probably damaging |
Het |
| Runx3 |
A |
G |
4: 134,882,720 (GRCm39) |
D152G |
probably damaging |
Het |
| She |
T |
A |
3: 89,739,256 (GRCm39) |
I149N |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,042,254 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,063,449 (GRCm39) |
T907A |
probably benign |
Het |
| Syvn1 |
A |
G |
19: 6,100,393 (GRCm39) |
D288G |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,672,077 (GRCm39) |
S384G |
probably benign |
Het |
| Tmc8 |
ACTTCCT |
ACT |
11: 117,681,558 (GRCm39) |
|
probably null |
Het |
| Trhr |
T |
C |
15: 44,061,149 (GRCm39) |
I223T |
possibly damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,484,371 (GRCm39) |
I478T |
possibly damaging |
Het |
| Zbtb3 |
G |
T |
19: 8,781,173 (GRCm39) |
R262M |
possibly damaging |
Het |
| Zfp516 |
T |
C |
18: 83,006,080 (GRCm39) |
S995P |
probably benign |
Het |
| Zfp985 |
A |
G |
4: 147,668,412 (GRCm39) |
I427V |
possibly damaging |
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 |
|
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 |
|
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'- ACAGGCCAGGCTTTCTAAGG -3'
(R):5'- TCTAGTGAGCTGAGGTCCTG -3'
Sequencing Primer
(F):5'- AGGCTTTCTAAGGGCCACC -3'
(R):5'- AGGCCCTTCTCTGTCCATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation