Incidental Mutation 'R0414:Pfkp'
ID |
40184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkp
|
Ensembl Gene |
ENSMUSG00000021196 |
Gene Name |
phosphofructokinase, platelet |
Synonyms |
PFK-C, 9330125N24Rik, 1200015H23Rik |
MMRRC Submission |
038616-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.425)
|
Stock # |
R0414 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
6629804-6698813 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6643246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 524
(H524L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021614]
[ENSMUST00000138703]
[ENSMUST00000154100]
|
AlphaFold |
Q9WUA3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021614
AA Change: H524L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000021614 Gene: ENSMUSG00000021196 AA Change: H524L
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 |
noncoding transcript
Transcript: ENSMUST00000131648
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133041
|
SMART Domains |
Protein: ENSMUSP00000123662 Gene: ENSMUSG00000021196
Domain | Start | End | E-Value | Type |
Pfam:PFK
|
1 |
66 |
4.4e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138703
|
SMART Domains |
Protein: ENSMUSP00000117030 Gene: ENSMUSG00000021196
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: ENSMUST00000142372
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151894
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154100
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
96% (64/67) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
A |
T |
5: 103,797,356 (GRCm39) |
V51E |
probably benign |
Het |
Abo |
T |
C |
2: 26,733,428 (GRCm39) |
Y259C |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,674,794 (GRCm39) |
S457P |
probably damaging |
Het |
Alk |
G |
T |
17: 72,206,281 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
G |
18: 65,439,230 (GRCm39) |
I1188T |
probably benign |
Het |
Ambra1 |
T |
C |
2: 91,706,084 (GRCm39) |
S730P |
possibly damaging |
Het |
Arhgef2 |
T |
C |
3: 88,539,575 (GRCm39) |
|
probably benign |
Het |
Atpsckmt |
T |
A |
15: 31,617,148 (GRCm39) |
Y126* |
probably null |
Het |
B3gnt7 |
T |
C |
1: 86,233,351 (GRCm39) |
I82T |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,193,526 (GRCm39) |
D400G |
probably benign |
Het |
Bag4 |
A |
G |
8: 26,258,025 (GRCm39) |
V434A |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,425,476 (GRCm39) |
|
probably null |
Het |
Cfc1 |
A |
G |
1: 34,576,409 (GRCm39) |
D130G |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
Clec2m |
T |
C |
6: 129,303,813 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
GAGAAGAAG |
GAGAAG |
4: 133,799,947 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,390,064 (GRCm39) |
D727G |
probably benign |
Het |
Dock10 |
C |
A |
1: 80,513,650 (GRCm39) |
V1129F |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,221,411 (GRCm39) |
I688N |
possibly damaging |
Het |
Dyrk1a |
C |
G |
16: 94,464,701 (GRCm39) |
T103R |
probably damaging |
Het |
Ebf1 |
C |
T |
11: 44,815,297 (GRCm39) |
R304* |
probably null |
Het |
Eif2s2 |
A |
G |
2: 154,726,381 (GRCm39) |
|
probably benign |
Het |
Endov |
T |
G |
11: 119,390,397 (GRCm39) |
Y8* |
probably null |
Het |
Eps15 |
T |
A |
4: 109,223,677 (GRCm39) |
D485E |
probably damaging |
Het |
Fam118a |
C |
A |
15: 84,929,890 (GRCm39) |
S39R |
probably damaging |
Het |
Fbxo22 |
T |
A |
9: 55,130,910 (GRCm39) |
M393K |
possibly damaging |
Het |
Firrm |
T |
C |
1: 163,795,890 (GRCm39) |
I434V |
probably benign |
Het |
Gab1 |
A |
G |
8: 81,526,918 (GRCm39) |
I60T |
probably damaging |
Het |
Gapvd1 |
A |
G |
2: 34,583,439 (GRCm39) |
L1059P |
probably benign |
Het |
Gbp5 |
A |
G |
3: 142,213,674 (GRCm39) |
|
probably null |
Het |
Glb1l2 |
T |
A |
9: 26,676,400 (GRCm39) |
K487* |
probably null |
Het |
H1f1 |
A |
G |
13: 23,948,141 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,591,573 (GRCm39) |
I1875M |
possibly damaging |
Het |
Jkamp |
T |
C |
12: 72,140,919 (GRCm39) |
|
probably null |
Het |
Kprp |
C |
T |
3: 92,733,020 (GRCm39) |
C10Y |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,401,372 (GRCm39) |
|
probably null |
Het |
Lrrn3 |
T |
A |
12: 41,503,939 (GRCm39) |
N126I |
probably damaging |
Het |
Mug1 |
T |
C |
6: 121,833,513 (GRCm39) |
F325L |
probably benign |
Het |
Myadm |
AC |
ACC |
7: 3,345,276 (GRCm39) |
|
probably null |
Het |
Nagk |
C |
T |
6: 83,774,249 (GRCm39) |
R87* |
probably null |
Het |
Nipal4 |
T |
A |
11: 46,052,735 (GRCm39) |
I77F |
probably damaging |
Het |
Or4c112 |
A |
G |
2: 88,853,490 (GRCm39) |
Y286H |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,769,932 (GRCm39) |
H250R |
probably damaging |
Het |
Pcx |
T |
C |
19: 4,657,670 (GRCm39) |
V378A |
possibly damaging |
Het |
Picalm |
A |
T |
7: 89,838,406 (GRCm39) |
N370I |
possibly damaging |
Het |
Plcl2 |
A |
C |
17: 50,914,983 (GRCm39) |
D664A |
possibly damaging |
Het |
Ptpn5 |
G |
A |
7: 46,732,884 (GRCm39) |
P320S |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,356,326 (GRCm39) |
|
probably benign |
Het |
Sfswap |
A |
G |
5: 129,581,115 (GRCm39) |
D96G |
possibly damaging |
Het |
Slfn1 |
A |
G |
11: 83,012,096 (GRCm39) |
I71V |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,181,943 (GRCm39) |
|
probably null |
Het |
Stx18 |
T |
C |
5: 38,262,349 (GRCm39) |
|
probably benign |
Het |
Suox |
T |
A |
10: 128,507,326 (GRCm39) |
H234L |
probably benign |
Het |
Tbc1d17 |
T |
C |
7: 44,495,483 (GRCm39) |
S114G |
probably benign |
Het |
Tfeb |
T |
A |
17: 48,099,224 (GRCm39) |
|
probably null |
Het |
Tnks |
A |
C |
8: 35,320,463 (GRCm39) |
V736G |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,514,045 (GRCm39) |
T4A |
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 |
|
IGL02852:Pfkp
|
APN |
13 |
6,655,059 (GRCm39) |
missense |
possibly damaging |
0.57 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGAGCTGTCAGGAGGGCTAAATG -3'
(R):5'- CCCAGTGGCCTGTGAATAGTTGAAG -3'
Sequencing Primer
(F):5'- TAAATGGAGGAGAACAACCCC -3'
(R):5'- AGATGCCAATTCTGGCCTC -3'
|
Posted On |
2013-05-23 |