Incidental Mutation 'R7821:Pfkp'
ID |
601887 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkp
|
Ensembl Gene |
ENSMUSG00000021196 |
Gene Name |
phosphofructokinase, platelet |
Synonyms |
PFK-C, 9330125N24Rik, 1200015H23Rik |
MMRRC Submission |
045875-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.425)
|
Stock # |
R7821 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
6629804-6698813 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6647908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 556
(N556I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021614]
[ENSMUST00000138703]
[ENSMUST00000154100]
|
AlphaFold |
Q9WUA3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021614
|
SMART Domains |
Protein: ENSMUSP00000021614 Gene: ENSMUSG00000021196
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 |
|
SMART Domains |
Protein: ENSMUSP00000123662 Gene: ENSMUSG00000021196 AA Change: N54I
Domain | Start | End | E-Value | Type |
Pfam:PFK
|
1 |
66 |
4.4e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138703
AA Change: N556I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117030 Gene: ENSMUSG00000021196 AA Change: N556I
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 |
unknown
Transcript: ENSMUST00000154100
AA Change: N3I
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (61/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,120,929 (GRCm39) |
T112S |
probably damaging |
Het |
Abca12 |
G |
T |
1: 71,298,950 (GRCm39) |
S2320R |
probably benign |
Het |
Abca7 |
TGGTGCGTGAG |
TG |
10: 79,838,424 (GRCm39) |
|
probably benign |
Het |
Adh7 |
T |
A |
3: 137,932,136 (GRCm39) |
I250N |
probably damaging |
Het |
Albfm1 |
T |
C |
5: 90,740,747 (GRCm39) |
V560A |
possibly damaging |
Het |
Aoc1 |
T |
A |
6: 48,882,745 (GRCm39) |
I229N |
probably damaging |
Het |
C2cd6 |
A |
T |
1: 59,106,951 (GRCm39) |
Y291* |
probably null |
Het |
Cacnb4 |
T |
C |
2: 52,324,520 (GRCm39) |
D514G |
possibly damaging |
Het |
Ccdc202 |
A |
G |
14: 96,119,486 (GRCm39) |
Q81R |
possibly damaging |
Het |
Clec2g |
A |
G |
6: 128,925,740 (GRCm39) |
T50A |
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,741,458 (GRCm39) |
E2487G |
probably damaging |
Het |
D130040H23Rik |
A |
T |
8: 69,752,887 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
G |
A |
6: 87,087,879 (GRCm39) |
S14N |
unknown |
Het |
Dchs1 |
G |
A |
7: 105,414,352 (GRCm39) |
T821I |
probably benign |
Het |
Dhcr24 |
T |
C |
4: 106,428,633 (GRCm39) |
S138P |
possibly damaging |
Het |
Dhrs9 |
G |
A |
2: 69,224,782 (GRCm39) |
G157R |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,411,678 (GRCm39) |
D3682E |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,314,443 (GRCm39) |
|
probably null |
Het |
Fat1 |
A |
T |
8: 45,403,261 (GRCm39) |
H4L |
probably benign |
Het |
Flnb |
A |
G |
14: 7,939,113 (GRCm38) |
I2319V |
probably benign |
Het |
Foxe1 |
T |
C |
4: 46,344,578 (GRCm39) |
W129R |
probably damaging |
Het |
Foxred2 |
G |
A |
15: 77,827,550 (GRCm39) |
P603L |
probably benign |
Het |
Fshr |
A |
G |
17: 89,293,641 (GRCm39) |
S346P |
probably damaging |
Het |
Galnt2 |
T |
A |
8: 125,070,134 (GRCm39) |
S550R |
possibly damaging |
Het |
Gpc2 |
A |
G |
5: 138,274,559 (GRCm39) |
S312P |
probably benign |
Het |
Gpr150 |
C |
A |
13: 76,204,511 (GRCm39) |
A145S |
probably benign |
Het |
Grk4 |
T |
A |
5: 34,867,553 (GRCm39) |
W173R |
probably damaging |
Het |
Hoxb9 |
C |
G |
11: 96,162,537 (GRCm39) |
P57R |
probably damaging |
Het |
Hsf5 |
A |
G |
11: 87,528,954 (GRCm39) |
Q563R |
probably benign |
Het |
Ighv1-58 |
A |
G |
12: 115,275,796 (GRCm39) |
F114S |
possibly damaging |
Het |
Klra9 |
T |
A |
6: 130,162,563 (GRCm39) |
I158F |
probably damaging |
Het |
Lrrc8d |
T |
C |
5: 105,960,210 (GRCm39) |
S207P |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,459,320 (GRCm39) |
E1929G |
probably damaging |
Het |
Ncoa1 |
A |
G |
12: 4,346,221 (GRCm39) |
M89T |
probably benign |
Het |
Nkx2-4 |
T |
C |
2: 146,927,208 (GRCm39) |
I20V |
probably benign |
Het |
Nup214 |
T |
C |
2: 31,916,917 (GRCm39) |
S1191P |
possibly damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,855 (GRCm39) |
D269G |
probably benign |
Het |
Pidd1 |
A |
T |
7: 141,022,193 (GRCm39) |
S199T |
probably benign |
Het |
Pik3r2 |
T |
A |
8: 71,222,408 (GRCm39) |
I515F |
probably damaging |
Het |
Plcxd2 |
T |
A |
16: 45,785,524 (GRCm39) |
I294F |
probably damaging |
Het |
Prmt6 |
C |
A |
3: 110,158,303 (GRCm39) |
|
probably benign |
Het |
Prpf8 |
A |
G |
11: 75,385,300 (GRCm39) |
I812V |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,462,537 (GRCm39) |
|
probably null |
Het |
Rsad1 |
A |
C |
11: 94,435,288 (GRCm39) |
D266E |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
T |
A |
5: 93,088,705 (GRCm39) |
V485E |
probably damaging |
Het |
Siae |
T |
A |
9: 37,556,196 (GRCm39) |
Y451N |
probably damaging |
Het |
Slc7a11 |
A |
T |
3: 50,335,476 (GRCm39) |
I354N |
probably damaging |
Het |
Spryd7 |
A |
T |
14: 61,783,129 (GRCm39) |
|
probably null |
Het |
Srcap |
A |
G |
7: 127,129,499 (GRCm39) |
|
probably benign |
Het |
Svep1 |
T |
A |
4: 58,179,601 (GRCm39) |
D214V |
probably damaging |
Het |
Tmtc4 |
T |
C |
14: 123,209,289 (GRCm39) |
I119V |
probably benign |
Het |
Trim5 |
G |
A |
7: 103,927,633 (GRCm39) |
T169I |
probably benign |
Het |
Ttc33 |
T |
C |
15: 5,241,506 (GRCm39) |
F83S |
probably benign |
Het |
Ubr5 |
A |
T |
15: 37,997,431 (GRCm39) |
S1741T |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wdcp |
A |
G |
12: 4,907,975 (GRCm39) |
N694S |
probably benign |
Het |
Zfp174 |
T |
A |
16: 3,666,041 (GRCm39) |
I102N |
probably damaging |
Het |
Zfp354a |
T |
C |
11: 50,960,539 (GRCm39) |
F248S |
probably damaging |
Het |
Zfyve26 |
A |
T |
12: 79,302,098 (GRCm39) |
C404S |
probably damaging |
Het |
Zmynd8 |
A |
T |
2: 165,723,000 (GRCm39) |
|
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 |
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 |
|
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'- TGGAGTCAAGTCATGCGAGC -3'
(R):5'- TCCCAGAAAGCTGCTTGTCC -3'
Sequencing Primer
(F):5'- GGGGGCAATTAAATTAAGCATTTTC -3'
(R):5'- AGAAAGCTGCTTGTCCTTGTC -3'
|
Posted On |
2019-12-03 |