Incidental Mutation 'R6038:Pfkp'
| ID |
486699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkp
|
| Ensembl Gene |
ENSMUSG00000021196 |
| Gene Name |
phosphofructokinase, platelet |
| Synonyms |
PFK-C, 9330125N24Rik, 1200015H23Rik |
| MMRRC Submission |
044208-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.372)
|
| Stock # |
R6038 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6629804-6698813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 6648005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 524
(H524N)
|
| 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 |
unknown
Transcript: ENSMUST00000133041
AA Change: H22N
|
| SMART Domains |
Protein: ENSMUSP00000123662
Gene: ENSMUSG00000021196
AA Change: H22N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
1 |
66 |
4.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138703
AA Change: H524N
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: H524N
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154100
|
| Meta Mutation Damage Score |
0.1984 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,615,286 (GRCm39) |
C1327R |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,049,608 (GRCm39) |
T704A |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,156,487 (GRCm39) |
Y414* |
probably null |
Het |
| Adgrf1 |
T |
C |
17: 43,606,100 (GRCm39) |
S75P |
probably benign |
Het |
| Akirin1 |
A |
G |
4: 123,643,956 (GRCm39) |
M1T |
probably null |
Het |
| Antxr1 |
C |
A |
6: 87,263,982 (GRCm39) |
|
probably null |
Het |
| Arid1b |
A |
T |
17: 5,386,957 (GRCm39) |
Y1470F |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,465,308 (GRCm39) |
D649G |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,575,200 (GRCm39) |
V615A |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,075,462 (GRCm39) |
R880Q |
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,013,140 (GRCm39) |
T971A |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,497,414 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
G |
A |
13: 113,455,153 (GRCm39) |
V400M |
possibly damaging |
Het |
| Defb19 |
T |
G |
2: 152,418,187 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,946,715 (GRCm39) |
D3045G |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,783,350 (GRCm39) |
|
probably null |
Het |
| Egln3 |
A |
G |
12: 54,228,476 (GRCm39) |
V210A |
probably damaging |
Het |
| Epb41l4a |
T |
C |
18: 33,987,388 (GRCm39) |
S330G |
probably benign |
Het |
| Epha7 |
G |
A |
4: 28,821,521 (GRCm39) |
E229K |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Garin4 |
C |
T |
1: 190,894,919 (GRCm39) |
E575K |
probably damaging |
Het |
| Garin5a |
C |
T |
7: 44,149,719 (GRCm39) |
R147W |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,756,594 (GRCm39) |
|
probably null |
Het |
| Gm29587 |
G |
A |
12: 74,269,309 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
T |
A |
6: 100,781,555 (GRCm39) |
L410Q |
probably damaging |
Het |
| H2-M10.3 |
C |
A |
17: 36,679,287 (GRCm39) |
C6F |
probably benign |
Het |
| Hecw1 |
G |
T |
13: 14,520,647 (GRCm39) |
Q197K |
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,154,373 (GRCm39) |
M778V |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,325,663 (GRCm39) |
T4691A |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,932,431 (GRCm39) |
E204G |
possibly damaging |
Het |
| Lrp12 |
A |
C |
15: 39,735,776 (GRCm39) |
W738G |
probably damaging |
Het |
| Mdga2 |
A |
T |
12: 66,676,827 (GRCm39) |
D488E |
probably damaging |
Het |
| Mrc1 |
G |
C |
2: 14,261,882 (GRCm39) |
W290C |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,027,824 (GRCm39) |
S679T |
probably benign |
Het |
| Nhp2 |
T |
C |
11: 51,510,912 (GRCm39) |
V55A |
probably benign |
Het |
| Nrm |
T |
C |
17: 36,172,397 (GRCm39) |
S41P |
possibly damaging |
Het |
| Or10ag54 |
T |
A |
2: 87,099,611 (GRCm39) |
I141N |
possibly damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,677 (GRCm39) |
L254P |
probably damaging |
Het |
| Or7e165 |
A |
G |
9: 19,694,858 (GRCm39) |
Y143C |
probably benign |
Het |
| Osbpl7 |
C |
T |
11: 96,941,542 (GRCm39) |
P22S |
probably benign |
Het |
| Pebp1 |
A |
T |
5: 117,422,170 (GRCm39) |
L124Q |
probably benign |
Het |
| Pnmt |
G |
A |
11: 98,278,594 (GRCm39) |
D187N |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,920,445 (GRCm39) |
I355K |
possibly damaging |
Het |
| Prom1 |
A |
T |
5: 44,159,135 (GRCm39) |
Y836N |
probably damaging |
Het |
| Rubcnl |
T |
C |
14: 75,269,410 (GRCm39) |
S23P |
probably benign |
Het |
| Sap130 |
T |
A |
18: 31,813,539 (GRCm39) |
I532N |
probably damaging |
Het |
| Serpina1e |
A |
T |
12: 103,913,095 (GRCm39) |
|
probably null |
Het |
| Slc12a3 |
T |
G |
8: 95,057,100 (GRCm39) |
S124R |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,927,651 (GRCm39) |
T317A |
probably benign |
Het |
| Smarcad1 |
T |
C |
6: 65,050,232 (GRCm39) |
S284P |
possibly damaging |
Het |
| Spag9 |
C |
G |
11: 94,002,918 (GRCm39) |
R724G |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,395,103 (GRCm39) |
|
probably null |
Het |
| Steap3 |
A |
G |
1: 120,169,371 (GRCm39) |
Y271H |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,925,158 (GRCm39) |
Q44* |
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,444 (GRCm39) |
C195S |
possibly damaging |
Het |
| Tcl1b4 |
T |
C |
12: 105,168,766 (GRCm39) |
M10T |
possibly damaging |
Het |
| Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
| Vmn2r60 |
C |
A |
7: 41,844,386 (GRCm39) |
A583D |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,501,037 (GRCm39) |
Q455R |
possibly damaging |
Het |
| Wdr17 |
A |
G |
8: 55,085,346 (GRCm39) |
|
probably null |
Het |
| Xbp1 |
T |
C |
11: 5,474,798 (GRCm39) |
L233P |
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,191,752 (GRCm39) |
E288G |
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 |
|
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'- ATAAAAGGATCCCGGCCTCG -3'
(R):5'- GAAAGCTGCTTGTCCTTGTC -3'
Sequencing Primer
(F):5'- CCTCGGGTTAGCGTCAGTG -3'
(R):5'- CTGCTCGTAACAATTCTGTGTTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation