Incidental Mutation 'R7044:Pfkp'
| ID |
547222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkp
|
| Ensembl Gene |
ENSMUSG00000021196 |
| Gene Name |
phosphofructokinase, platelet |
| Synonyms |
9330125N24Rik, 1200015H23Rik, PFK-C |
| MMRRC Submission |
045143-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.401)
|
| Stock # |
R7044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6579768-6648777 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6581567 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 151
(W151R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000021614]
[ENSMUST00000138703]
[ENSMUST00000142972]
[ENSMUST00000154100]
[ENSMUST00000222485]
|
| AlphaFold |
Q9WUA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021611
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
93 |
188 |
1.8e-7 |
PFAM |
|
Pfam:Peptidase_M16_C
|
244 |
431 |
4.7e-27 |
PFAM |
|
M16C_associated
|
504 |
752 |
2.8e-114 |
SMART |
|
Pfam:Peptidase_M16_C
|
771 |
958 |
2.8e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021614
AA Change: W750R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: W750R
| 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: ENSMUST00000133041
|
| SMART Domains |
Protein: ENSMUSP00000123662
Gene: ENSMUSG00000021196
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
1 |
66 |
4.4e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138703
AA Change: W750R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: W750R
| 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 |
probably damaging
Transcript: ENSMUST00000142972
AA Change: W151R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114439
Gene: ENSMUSG00000021196
AA Change: W151R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4OMT|A
|
1 |
179 |
2e-68 |
PDB |
|
SCOP:d1pfka_
|
2 |
158 |
7e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154100
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222485
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010300C02Rik |
C |
T |
1: 37,612,280 (GRCm38) |
D1169N |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,815,260 (GRCm38) |
Q448L |
possibly damaging |
Het |
| Appl1 |
A |
G |
14: 26,928,677 (GRCm38) |
S513P |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,733,321 (GRCm38) |
K1066* |
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,577,601 (GRCm38) |
I824T |
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 133,015,102 (GRCm38) |
R35G |
possibly damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,470,494 (GRCm38) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,231,410 (GRCm38) |
|
probably null |
Het |
| Fam105a |
A |
G |
15: 27,657,235 (GRCm38) |
|
probably benign |
Het |
| Fam207a |
T |
C |
10: 77,514,392 (GRCm38) |
D35G |
possibly damaging |
Het |
| Fat4 |
G |
C |
3: 39,010,810 (GRCm38) |
A4972P |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,010,811 (GRCm38) |
A4972V |
probably benign |
Het |
| Fbxl8 |
T |
A |
8: 105,267,015 (GRCm38) |
M1K |
probably null |
Het |
| Glyat |
T |
C |
19: 12,650,265 (GRCm38) |
S75P |
probably benign |
Het |
| Gm3543 |
T |
A |
14: 41,980,066 (GRCm38) |
I154F |
probably damaging |
Het |
| Gm4565 |
T |
A |
7: 22,583,370 (GRCm38) |
M8L |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,349,790 (GRCm38) |
Q269R |
probably benign |
Het |
| Hfe2 |
C |
A |
3: 96,527,474 (GRCm38) |
H176Q |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,538,901 (GRCm38) |
H483R |
possibly damaging |
Het |
| Il25 |
G |
A |
14: 54,933,158 (GRCm38) |
A63T |
probably benign |
Het |
| Krt27 |
T |
A |
11: 99,346,814 (GRCm38) |
N366I |
probably benign |
Het |
| Mfge8 |
A |
G |
7: 79,142,520 (GRCm38) |
V219A |
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,249,946 (GRCm38) |
V373A |
probably damaging |
Het |
| Olfr1186 |
A |
G |
2: 88,526,486 (GRCm38) |
N301S |
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,469,171 (GRCm38) |
I231T |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,246,854 (GRCm38) |
I1084T |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,449,895 (GRCm38) |
C27R |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,044,346 (GRCm38) |
V1266M |
probably damaging |
Het |
| Rpa1 |
T |
C |
11: 75,312,802 (GRCm38) |
D358G |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,369,953 (GRCm38) |
S495P |
probably damaging |
Het |
| Surf6 |
A |
G |
2: 26,899,356 (GRCm38) |
I123T |
probably damaging |
Het |
| Sybu |
A |
T |
15: 44,677,695 (GRCm38) |
S324T |
possibly damaging |
Het |
| Trim3 |
A |
T |
7: 105,618,214 (GRCm38) |
S319R |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,590,934 (GRCm38) |
F72L |
probably benign |
Het |
| Tsks |
C |
T |
7: 44,943,792 (GRCm38) |
R61W |
probably damaging |
Het |
| Ube2k |
T |
C |
5: 65,581,429 (GRCm38) |
V36A |
possibly damaging |
Het |
| Ube3a |
T |
C |
7: 59,288,413 (GRCm38) |
V688A |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,157,045 (GRCm38) |
K79E |
possibly damaging |
Het |
| Vmn1r77 |
G |
A |
7: 12,041,834 (GRCm38) |
R179Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 18,914,367 (GRCm38) |
F16I |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,802,167 (GRCm38) |
|
probably benign |
Het |
| Zfp600 |
C |
T |
4: 146,195,322 (GRCm38) |
Q187* |
probably null |
Het |
|
| Other mutations in Pfkp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Pfkp
|
APN |
13 |
6,619,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00983:Pfkp
|
APN |
13 |
6,581,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01099:Pfkp
|
APN |
13 |
6,603,390 (GRCm38) |
splice site |
probably benign |
|
|
IGL01825:Pfkp
|
APN |
13 |
6,620,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02164:Pfkp
|
APN |
13 |
6,597,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02331:Pfkp
|
APN |
13 |
6,597,960 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL02680:Pfkp
|
APN |
13 |
6,600,672 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02852:Pfkp
|
APN |
13 |
6,605,023 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R0414:Pfkp
|
UTSW |
13 |
6,593,210 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0542:Pfkp
|
UTSW |
13 |
6,621,992 (GRCm38) |
nonsense |
probably null |
|
|
R0612:Pfkp
|
UTSW |
13 |
6,605,634 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0767:Pfkp
|
UTSW |
13 |
6,605,012 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1417:Pfkp
|
UTSW |
13 |
6,605,719 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1534:Pfkp
|
UTSW |
13 |
6,619,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1612:Pfkp
|
UTSW |
13 |
6,588,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2278:Pfkp
|
UTSW |
13 |
6,619,209 (GRCm38) |
splice site |
probably null |
|
|
R2919:Pfkp
|
UTSW |
13 |
6,593,243 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2996:Pfkp
|
UTSW |
13 |
6,635,930 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4214:Pfkp
|
UTSW |
13 |
6,619,225 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4374:Pfkp
|
UTSW |
13 |
6,620,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4693:Pfkp
|
UTSW |
13 |
6,600,635 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5534:Pfkp
|
UTSW |
13 |
6,648,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5537:Pfkp
|
UTSW |
13 |
6,619,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5619:Pfkp
|
UTSW |
13 |
6,598,729 (GRCm38) |
unclassified |
probably benign |
|
|
R5677:Pfkp
|
UTSW |
13 |
6,588,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6038:Pfkp
|
UTSW |
13 |
6,597,969 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6038:Pfkp
|
UTSW |
13 |
6,597,969 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6216:Pfkp
|
UTSW |
13 |
6,619,188 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6330:Pfkp
|
UTSW |
13 |
6,585,250 (GRCm38) |
unclassified |
probably benign |
|
|
R6676:Pfkp
|
UTSW |
13 |
6,586,539 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R7146:Pfkp
|
UTSW |
13 |
6,602,781 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7193:Pfkp
|
UTSW |
13 |
6,593,216 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7588:Pfkp
|
UTSW |
13 |
6,648,637 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7611:Pfkp
|
UTSW |
13 |
6,605,083 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7821:Pfkp
|
UTSW |
13 |
6,597,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8196:Pfkp
|
UTSW |
13 |
6,605,662 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8542:Pfkp
|
UTSW |
13 |
6,581,521 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9028:Pfkp
|
UTSW |
13 |
6,605,689 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9338:Pfkp
|
UTSW |
13 |
6,584,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Pfkp
|
UTSW |
13 |
6,619,252 (GRCm38) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTTGCTTCCATAAAGTGCTG -3'
(R):5'- GGGCCCTAGGTTTAATCTCTAGTG -3'
Sequencing Primer
(F):5'- GCTTCCATAAAGTGCTGATAAATAAC -3'
(R):5'- CATAATACACTGGATATGGCGGTCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation