Incidental Mutation 'R2996:Pfkp'
| ID |
257188 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2996 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
6629804-6698813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6685966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 23
(Y23H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021614]
[ENSMUST00000136585]
[ENSMUST00000138703]
|
| AlphaFold |
Q9WUA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021614
AA Change: Y60H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: Y60H
| 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: ENSMUST00000136585
AA Change: Y23H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000115313
Gene: ENSMUSG00000021196
AA Change: Y23H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
1 |
167 |
1.1e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138703
AA Change: Y60H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: Y60H
| 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: ENSMUST00000148999
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151894
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| F5 |
C |
A |
1: 164,010,486 (GRCm39) |
R406S |
probably damaging |
Het |
| Fam43a |
A |
G |
16: 30,419,838 (GRCm39) |
T141A |
possibly damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Gtpbp3 |
G |
A |
8: 71,942,140 (GRCm39) |
G125S |
possibly damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,568,931 (GRCm39) |
I30T |
probably benign |
Het |
| Map2k7 |
C |
A |
8: 4,293,775 (GRCm39) |
N138K |
probably benign |
Het |
| Mdc1 |
TGAGGAGGAGGAGGAGGAGGAGGAGGAGG |
TGAGGAGGAGGAGGAGGAGGAGGAGG |
17: 36,158,785 (GRCm39) |
|
probably benign |
Het |
| Mmab |
C |
A |
5: 114,574,555 (GRCm39) |
R184L |
probably damaging |
Het |
| Nsun7 |
T |
A |
5: 66,452,897 (GRCm39) |
H571Q |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,747,124 (GRCm39) |
V13D |
probably damaging |
Het |
| Vmn1r90 |
T |
C |
7: 14,295,459 (GRCm39) |
H213R |
probably 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 |
|
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'- TCTTTGAAATCCACTCACAAGCTG -3'
(R):5'- TCATAGTCACAGGCCACGAG -3'
Sequencing Primer
(F):5'- TCCTCAGAATCATTGACCCGGG -3'
(R):5'- TAGTCACAGGCCACGAGGAAAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation