Incidental Mutation 'R7588:Pfkp'
ID |
587275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkp
|
Ensembl Gene |
ENSMUSG00000021196 |
Gene Name |
phosphofructokinase, platelet |
Synonyms |
PFK-C, 9330125N24Rik, 1200015H23Rik |
MMRRC Submission |
045636-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.425)
|
Stock # |
R7588 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
6629804-6698813 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6698673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 15
(Y15H)
|
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: Y15H
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021614 Gene: ENSMUSG00000021196 AA Change: Y15H
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: Y15H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000117030 Gene: ENSMUSG00000021196 AA Change: Y15H
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2b1 |
T |
A |
11: 83,215,348 (GRCm39) |
D97E |
probably benign |
Het |
Apbb1 |
G |
T |
7: 105,223,173 (GRCm39) |
P146Q |
probably benign |
Het |
Aste1 |
T |
A |
9: 105,274,590 (GRCm39) |
S277T |
possibly damaging |
Het |
Bnip5 |
T |
C |
17: 29,124,430 (GRCm39) |
K291E |
probably benign |
Het |
Cdk15 |
A |
G |
1: 59,383,458 (GRCm39) |
D415G |
possibly damaging |
Het |
Cep152 |
T |
A |
2: 125,411,546 (GRCm39) |
E1256D |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,864,039 (GRCm39) |
N2643S |
probably damaging |
Het |
Copg2 |
A |
G |
6: 30,788,526 (GRCm39) |
|
probably null |
Het |
D130043K22Rik |
T |
A |
13: 25,071,876 (GRCm39) |
I940N |
probably damaging |
Het |
Dnmt3a |
A |
G |
12: 3,946,080 (GRCm39) |
T312A |
possibly damaging |
Het |
Dock5 |
A |
G |
14: 68,000,607 (GRCm39) |
|
probably null |
Het |
Fam83g |
A |
T |
11: 61,575,522 (GRCm39) |
I55F |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,084,017 (GRCm39) |
F780L |
possibly damaging |
Het |
Fhod3 |
G |
T |
18: 25,223,305 (GRCm39) |
A884S |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,516,711 (GRCm39) |
S596G |
probably benign |
Het |
Gns |
T |
C |
10: 121,226,563 (GRCm39) |
V404A |
probably benign |
Het |
Gpatch1 |
T |
C |
7: 34,991,173 (GRCm39) |
N624D |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,532,885 (GRCm39) |
I3099M |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,104,785 (GRCm39) |
S1080R |
possibly damaging |
Het |
Kcnk15 |
T |
C |
2: 163,700,226 (GRCm39) |
V155A |
probably damaging |
Het |
Luzp2 |
T |
A |
7: 54,724,838 (GRCm39) |
|
probably null |
Het |
Mapk8ip1 |
T |
A |
2: 92,216,984 (GRCm39) |
D446V |
possibly damaging |
Het |
Med1 |
T |
C |
11: 98,046,398 (GRCm39) |
E1466G |
unknown |
Het |
Mug1 |
A |
G |
6: 121,852,476 (GRCm39) |
R855G |
probably damaging |
Het |
Naalad2 |
C |
A |
9: 18,262,775 (GRCm39) |
V374F |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Nlrp5 |
A |
G |
7: 23,107,576 (GRCm39) |
E83G |
probably benign |
Het |
Nod2 |
T |
C |
8: 89,401,536 (GRCm39) |
F901S |
possibly damaging |
Het |
Nps |
T |
C |
7: 134,870,508 (GRCm39) |
V10A |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,806,900 (GRCm39) |
V1109E |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,877,246 (GRCm39) |
D267G |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,341,017 (GRCm39) |
Y176H |
probably damaging |
Het |
Ppm1b |
T |
C |
17: 85,320,997 (GRCm39) |
S380P |
probably benign |
Het |
Psg21 |
T |
C |
7: 18,381,134 (GRCm39) |
N470D |
probably benign |
Het |
Qrich2 |
T |
C |
11: 116,356,763 (GRCm39) |
N29D |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,090,566 (GRCm39) |
T3431A |
probably benign |
Het |
Rfc1 |
A |
G |
5: 65,429,850 (GRCm39) |
V852A |
probably damaging |
Het |
Rttn |
T |
G |
18: 89,082,353 (GRCm39) |
D1426E |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Styxl1 |
G |
A |
5: 135,799,130 (GRCm39) |
P28L |
probably damaging |
Het |
Tcl1b4 |
A |
G |
12: 105,168,641 (GRCm39) |
|
probably benign |
Het |
Trav17 |
A |
G |
14: 54,044,302 (GRCm39) |
D24G |
probably benign |
Het |
Trim28 |
A |
C |
7: 12,763,347 (GRCm39) |
D496A |
probably damaging |
Het |
Trim29 |
T |
C |
9: 43,246,425 (GRCm39) |
Y574H |
probably damaging |
Het |
Trip12 |
G |
T |
1: 84,738,604 (GRCm39) |
F750L |
probably damaging |
Het |
Ubr3 |
C |
A |
2: 69,801,513 (GRCm39) |
T1007K |
probably damaging |
Het |
Zzz3 |
A |
G |
3: 152,128,405 (GRCm39) |
Y7C |
possibly damaging |
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 |
|
IGL02852:Pfkp
|
APN |
13 |
6,655,059 (GRCm39) |
missense |
possibly damaging |
0.57 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTCACCCAACGTTTCTC -3'
(R):5'- GTCTTTGACACAACAGGCCC -3'
Sequencing Primer
(F):5'- ACCCAACGTTTCTCCCCAG -3'
(R):5'- ATCGCCACAGCCCATTGG -3'
|
Posted On |
2019-10-24 |