Incidental Mutation 'IGL02852:Pfkp'
| ID |
361941 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pfkp
|
| Ensembl Gene |
ENSMUSG00000021196 |
| Gene Name |
phosphofructokinase, platelet |
| Synonyms |
PFK-C, 9330125N24Rik, 1200015H23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.425)
|
| Stock # |
IGL02852
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
6629804-6698813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 6655059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 340
(P340Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021614]
[ENSMUST00000138703]
|
| AlphaFold |
Q9WUA3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021614
AA Change: P340Q
PolyPhen 2
Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: P340Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:PFK
|
25 |
332 |
4.7e-114 |
PFAM |
|
Pfam:PFK
|
411 |
696 |
1.2e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138703
AA Change: P340Q
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: P340Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:PFK
|
24 |
334 |
6.7e-136 |
PFAM |
|
Pfam:PFK
|
410 |
698 |
1.1e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148999
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151894
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcar1 |
A |
T |
8: 112,441,979 (GRCm39) |
L287* |
probably null |
Het |
| Birc2 |
A |
G |
9: 7,854,484 (GRCm39) |
I402T |
probably damaging |
Het |
| Btrc |
T |
A |
19: 45,501,095 (GRCm39) |
L153* |
probably null |
Het |
| C2cd3 |
T |
C |
7: 100,079,396 (GRCm39) |
F1245L |
probably damaging |
Het |
| Cabp7 |
C |
T |
11: 4,688,912 (GRCm39) |
R186H |
probably damaging |
Het |
| Cdk5r2 |
T |
C |
1: 74,895,298 (GRCm39) |
S348P |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,701,754 (GRCm39) |
Y120C |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,512,104 (GRCm39) |
D544G |
probably damaging |
Het |
| Col6a6 |
A |
C |
9: 105,661,272 (GRCm39) |
I279S |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,945,728 (GRCm39) |
T3562S |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,863,135 (GRCm39) |
S61P |
probably damaging |
Het |
| Dph5 |
T |
A |
3: 115,722,320 (GRCm39) |
M266K |
possibly damaging |
Het |
| Gm14226 |
G |
A |
2: 154,866,841 (GRCm39) |
S266N |
possibly damaging |
Het |
| Gm28047 |
A |
G |
15: 102,446,653 (GRCm39) |
V400A |
possibly damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,691 (GRCm39) |
D499G |
probably benign |
Het |
| Hoxb7 |
C |
T |
11: 96,180,320 (GRCm39) |
T173M |
possibly damaging |
Het |
| Kcnn3 |
T |
A |
3: 89,516,923 (GRCm39) |
I444N |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,375,785 (GRCm39) |
I27T |
probably damaging |
Het |
| Krtap8-1 |
A |
G |
16: 89,284,753 (GRCm39) |
Y15H |
probably benign |
Het |
| Myo18b |
C |
T |
5: 112,863,377 (GRCm39) |
V2154I |
probably benign |
Het |
| Pcdhb3 |
A |
G |
18: 37,435,150 (GRCm39) |
D372G |
probably damaging |
Het |
| Plcd3 |
C |
T |
11: 102,964,631 (GRCm39) |
R580Q |
probably damaging |
Het |
| Pou5f2 |
G |
A |
13: 78,173,178 (GRCm39) |
R40Q |
probably benign |
Het |
| Ppara |
G |
T |
15: 85,682,079 (GRCm39) |
M258I |
probably benign |
Het |
| Proc |
A |
G |
18: 32,258,208 (GRCm39) |
S246P |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,681,454 (GRCm39) |
|
probably null |
Het |
| Ripor2 |
T |
C |
13: 24,879,681 (GRCm39) |
F383S |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 37,256,094 (GRCm39) |
|
probably benign |
Het |
| Sema6c |
C |
A |
3: 95,077,295 (GRCm39) |
|
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,360,405 (GRCm39) |
E196G |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,493,550 (GRCm39) |
L313* |
probably null |
Het |
| Slit2 |
T |
C |
5: 48,402,014 (GRCm39) |
F789S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,071,676 (GRCm39) |
M2219V |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,197,920 (GRCm39) |
H380L |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,743,561 (GRCm39) |
Y859H |
probably damaging |
Het |
| Trcg1 |
A |
T |
9: 57,148,595 (GRCm39) |
T56S |
possibly damaging |
Het |
| Ttc23 |
T |
A |
7: 67,316,903 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,774,648 (GRCm39) |
|
probably benign |
Het |
| Uba1y |
C |
T |
Y: 828,841 (GRCm39) |
R550* |
probably null |
Het |
| Ubqln4 |
T |
C |
3: 88,462,778 (GRCm39) |
V81A |
probably damaging |
Het |
| Ugt2b38 |
C |
T |
5: 87,559,600 (GRCm39) |
E431K |
probably benign |
Het |
| Vmn1r85 |
T |
G |
7: 12,819,010 (GRCm39) |
I45L |
possibly damaging |
Het |
| Vmn2r68 |
T |
G |
7: 84,882,595 (GRCm39) |
S386R |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,419,173 (GRCm39) |
T902A |
possibly damaging |
Het |
| Zc3h15 |
G |
A |
2: 83,475,015 (GRCm39) |
A7T |
possibly damaging |
Het |
| Zdhhc19 |
A |
C |
16: 32,316,460 (GRCm39) |
T72P |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,070 (GRCm39) |
S720T |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,740,942 (GRCm39) |
K441R |
probably damaging |
Het |
| Zfy2 |
C |
T |
Y: 2,106,894 (GRCm39) |
G580D |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,188 (GRCm39) |
H213L |
probably benign |
Het |
|
| Other mutations in Pfkp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Pfkp
|
APN |
13 |
6,669,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00983:Pfkp
|
APN |
13 |
6,631,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01099:Pfkp
|
APN |
13 |
6,653,426 (GRCm39) |
splice site |
probably benign |
|
|
IGL01825:Pfkp
|
APN |
13 |
6,671,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02164:Pfkp
|
APN |
13 |
6,647,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Pfkp
|
APN |
13 |
6,647,996 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02680:Pfkp
|
APN |
13 |
6,650,708 (GRCm39) |
unclassified |
probably benign |
|
|
R0414:Pfkp
|
UTSW |
13 |
6,643,246 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0542:Pfkp
|
UTSW |
13 |
6,672,028 (GRCm39) |
nonsense |
probably null |
|
|
R0612:Pfkp
|
UTSW |
13 |
6,655,670 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0767:Pfkp
|
UTSW |
13 |
6,655,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1417:Pfkp
|
UTSW |
13 |
6,655,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1534:Pfkp
|
UTSW |
13 |
6,669,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1612:Pfkp
|
UTSW |
13 |
6,638,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2278:Pfkp
|
UTSW |
13 |
6,669,245 (GRCm39) |
splice site |
probably null |
|
|
R2919:Pfkp
|
UTSW |
13 |
6,643,279 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2996:Pfkp
|
UTSW |
13 |
6,685,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4214:Pfkp
|
UTSW |
13 |
6,669,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4374:Pfkp
|
UTSW |
13 |
6,671,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4693:Pfkp
|
UTSW |
13 |
6,650,671 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5534:Pfkp
|
UTSW |
13 |
6,698,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5537:Pfkp
|
UTSW |
13 |
6,669,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Pfkp
|
UTSW |
13 |
6,648,765 (GRCm39) |
unclassified |
probably benign |
|
|
R5677:Pfkp
|
UTSW |
13 |
6,638,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Pfkp
|
UTSW |
13 |
6,648,005 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6038:Pfkp
|
UTSW |
13 |
6,648,005 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6216:Pfkp
|
UTSW |
13 |
6,669,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6330:Pfkp
|
UTSW |
13 |
6,635,286 (GRCm39) |
unclassified |
probably benign |
|
|
R6676:Pfkp
|
UTSW |
13 |
6,636,575 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7044:Pfkp
|
UTSW |
13 |
6,631,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Pfkp
|
UTSW |
13 |
6,652,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7193:Pfkp
|
UTSW |
13 |
6,643,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7588:Pfkp
|
UTSW |
13 |
6,698,673 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7611:Pfkp
|
UTSW |
13 |
6,655,119 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7821:Pfkp
|
UTSW |
13 |
6,647,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8196:Pfkp
|
UTSW |
13 |
6,655,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8542:Pfkp
|
UTSW |
13 |
6,631,557 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9028:Pfkp
|
UTSW |
13 |
6,655,725 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9338:Pfkp
|
UTSW |
13 |
6,634,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pfkp
|
UTSW |
13 |
6,669,288 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Posted On |
2015-12-18 |
Incidental Mutation