Incidental Mutation 'R3688:Pfkm'
ID |
269641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkm
|
Ensembl Gene |
ENSMUSG00000033065 |
Gene Name |
phosphofructokinase, muscle |
Synonyms |
PFK-A, Pfk4, Pfk-4, Pfkx, PFK-M |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.797)
|
Stock # |
R3688 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
97990470-98030328 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98029398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 697
(N697K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051226]
[ENSMUST00000059112]
[ENSMUST00000123626]
[ENSMUST00000123922]
[ENSMUST00000143400]
[ENSMUST00000163507]
[ENSMUST00000230445]
|
AlphaFold |
P47857 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051226
AA Change: N697K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000059801 Gene: ENSMUSG00000033065 AA Change: N697K
Domain | Start | End | E-Value | Type |
Pfam:PFK
|
17 |
324 |
1.3e-111 |
PFAM |
Pfam:PFK
|
402 |
687 |
1e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000059112
|
SMART Domains |
Protein: ENSMUSP00000057864 Gene: ENSMUSG00000048175
Domain | Start | End | E-Value | Type |
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
ANK
|
52 |
81 |
4.5e-3 |
SMART |
ANK
|
85 |
113 |
1.22e-4 |
SMART |
ANK
|
117 |
146 |
1.81e-7 |
SMART |
ANK
|
150 |
179 |
2.45e-4 |
SMART |
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123626
|
SMART Domains |
Protein: ENSMUSP00000121383 Gene: ENSMUSG00000048175
Domain | Start | End | E-Value | Type |
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
ANK
|
52 |
81 |
4.5e-3 |
SMART |
ANK
|
85 |
113 |
1.22e-4 |
SMART |
ANK
|
117 |
146 |
1.81e-7 |
SMART |
ANK
|
150 |
179 |
2.45e-4 |
SMART |
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123922
|
SMART Domains |
Protein: ENSMUSP00000119481 Gene: ENSMUSG00000048175
Domain | Start | End | E-Value | Type |
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
ANK
|
52 |
81 |
4.5e-3 |
SMART |
ANK
|
85 |
113 |
1.22e-4 |
SMART |
ANK
|
117 |
146 |
1.81e-7 |
SMART |
ANK
|
150 |
179 |
2.45e-4 |
SMART |
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143400
|
SMART Domains |
Protein: ENSMUSP00000115813 Gene: ENSMUSG00000048175
Domain | Start | End | E-Value | Type |
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
ANK
|
52 |
81 |
4.5e-3 |
SMART |
ANK
|
85 |
113 |
1.22e-4 |
SMART |
ANK
|
117 |
146 |
1.81e-7 |
SMART |
ANK
|
150 |
179 |
2.45e-4 |
SMART |
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163507
AA Change: N697K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000132803 Gene: ENSMUSG00000033065 AA Change: N697K
Domain | Start | End | E-Value | Type |
Pfam:PFK
|
16 |
326 |
2.9e-138 |
PFAM |
Pfam:PFK
|
401 |
688 |
1.8e-61 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230445
AA Change: N697K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal glucose homeostasis. Mice homozygous for a knock-out allele exhibit premature death, exercise intolerance, abnormal glucose homeostasis, cardiomegaly, splenomegaly, and abnormal muscle morphology and physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,415,968 (GRCm39) |
I687T |
possibly damaging |
Het |
A1cf |
T |
A |
19: 31,888,569 (GRCm39) |
F100I |
probably damaging |
Het |
Adam12 |
A |
T |
7: 133,566,525 (GRCm39) |
Y308* |
probably null |
Het |
Adam3 |
T |
C |
8: 25,193,864 (GRCm39) |
T383A |
probably benign |
Het |
Adcy8 |
T |
C |
15: 64,743,556 (GRCm39) |
T351A |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,494,246 (GRCm39) |
H956R |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
Cept1 |
G |
T |
3: 106,427,331 (GRCm39) |
N236K |
probably benign |
Het |
Col15a1 |
C |
T |
4: 47,258,689 (GRCm39) |
T360I |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
Efl1 |
T |
A |
7: 82,412,178 (GRCm39) |
S856T |
probably benign |
Het |
Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,171,927 (GRCm39) |
T2929A |
probably damaging |
Het |
Gm4884 |
A |
G |
7: 40,692,910 (GRCm39) |
H293R |
possibly damaging |
Het |
Hdac10 |
C |
T |
15: 89,007,767 (GRCm39) |
|
probably null |
Het |
Il17rd |
C |
A |
14: 26,761,105 (GRCm39) |
N15K |
probably null |
Het |
Kcnt1 |
C |
T |
2: 25,784,371 (GRCm39) |
T258I |
probably damaging |
Het |
Kif5a |
T |
G |
10: 127,078,643 (GRCm39) |
N334T |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
Map4k4 |
T |
A |
1: 40,024,331 (GRCm39) |
|
probably null |
Het |
Naa80 |
T |
C |
9: 107,460,549 (GRCm39) |
V148A |
possibly damaging |
Het |
Or9a2 |
G |
T |
6: 41,749,160 (GRCm39) |
Y24* |
probably null |
Het |
Pard3b |
A |
G |
1: 62,518,728 (GRCm39) |
T938A |
probably benign |
Het |
Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
Prr23a4 |
A |
T |
9: 98,785,517 (GRCm39) |
M61L |
probably benign |
Het |
Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
Slc34a2 |
G |
A |
5: 53,222,174 (GRCm39) |
G289S |
probably benign |
Het |
Strn4 |
A |
G |
7: 16,556,506 (GRCm39) |
Y123C |
probably damaging |
Het |
Swt1 |
A |
T |
1: 151,267,240 (GRCm39) |
M647K |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,632,193 (GRCm39) |
V872A |
probably damaging |
Het |
Ubqln4 |
T |
C |
3: 88,470,466 (GRCm39) |
S313P |
probably damaging |
Het |
Vmn1r17 |
T |
A |
6: 57,337,544 (GRCm39) |
T225S |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,797,629 (GRCm39) |
H728L |
probably damaging |
Het |
Vps33a |
T |
C |
5: 123,673,274 (GRCm39) |
|
probably null |
Het |
Vwde |
T |
A |
6: 13,186,891 (GRCm39) |
R865S |
probably damaging |
Het |
Zfp408 |
T |
A |
2: 91,476,777 (GRCm39) |
M126L |
probably benign |
Het |
|
Other mutations in Pfkm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00793:Pfkm
|
APN |
15 |
98,023,475 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01843:Pfkm
|
APN |
15 |
98,027,187 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02090:Pfkm
|
APN |
15 |
98,021,121 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02624:Pfkm
|
APN |
15 |
98,024,276 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02869:Pfkm
|
APN |
15 |
98,026,123 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03102:Pfkm
|
APN |
15 |
98,024,266 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03164:Pfkm
|
APN |
15 |
98,029,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03188:Pfkm
|
APN |
15 |
98,021,124 (GRCm39) |
splice site |
probably null |
|
IGL03241:Pfkm
|
APN |
15 |
98,021,061 (GRCm39) |
missense |
probably benign |
0.02 |
E0374:Pfkm
|
UTSW |
15 |
98,021,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R0379:Pfkm
|
UTSW |
15 |
98,024,195 (GRCm39) |
missense |
probably benign |
0.01 |
R0524:Pfkm
|
UTSW |
15 |
98,029,488 (GRCm39) |
missense |
probably benign |
|
R0898:Pfkm
|
UTSW |
15 |
98,026,111 (GRCm39) |
missense |
probably benign |
0.09 |
R1086:Pfkm
|
UTSW |
15 |
98,029,546 (GRCm39) |
missense |
probably benign |
0.05 |
R1698:Pfkm
|
UTSW |
15 |
98,026,199 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1886:Pfkm
|
UTSW |
15 |
98,025,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R2051:Pfkm
|
UTSW |
15 |
98,029,573 (GRCm39) |
missense |
probably benign |
0.03 |
R2102:Pfkm
|
UTSW |
15 |
98,027,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R2312:Pfkm
|
UTSW |
15 |
98,023,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R3154:Pfkm
|
UTSW |
15 |
98,016,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R3911:Pfkm
|
UTSW |
15 |
98,022,928 (GRCm39) |
missense |
probably benign |
0.02 |
R4999:Pfkm
|
UTSW |
15 |
98,026,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R5008:Pfkm
|
UTSW |
15 |
98,020,570 (GRCm39) |
missense |
probably benign |
0.35 |
R5027:Pfkm
|
UTSW |
15 |
98,017,307 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5178:Pfkm
|
UTSW |
15 |
98,029,396 (GRCm39) |
missense |
probably benign |
|
R5617:Pfkm
|
UTSW |
15 |
98,020,107 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5891:Pfkm
|
UTSW |
15 |
98,020,571 (GRCm39) |
nonsense |
probably null |
|
R6248:Pfkm
|
UTSW |
15 |
98,024,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R7079:Pfkm
|
UTSW |
15 |
97,992,963 (GRCm39) |
missense |
probably benign |
0.31 |
R7605:Pfkm
|
UTSW |
15 |
98,019,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R7979:Pfkm
|
UTSW |
15 |
98,026,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R8482:Pfkm
|
UTSW |
15 |
98,029,864 (GRCm39) |
missense |
probably benign |
0.05 |
R9065:Pfkm
|
UTSW |
15 |
98,021,680 (GRCm39) |
missense |
probably damaging |
0.96 |
R9178:Pfkm
|
UTSW |
15 |
98,027,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R9221:Pfkm
|
UTSW |
15 |
98,019,188 (GRCm39) |
missense |
probably damaging |
1.00 |
RF010:Pfkm
|
UTSW |
15 |
98,027,674 (GRCm39) |
missense |
possibly damaging |
0.78 |
X0020:Pfkm
|
UTSW |
15 |
98,010,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGTGTCTCGGAGTGTCC -3'
(R):5'- GCTCAGTTACTGGCTGAAAGAC -3'
Sequencing Primer
(F):5'- TTCCGTCCTGTAAACCCAAGG -3'
(R):5'- TGAAAGACCAGGGCCCTCTTAC -3'
|
Posted On |
2015-02-19 |