Incidental Mutation 'R7979:Pfkm'
ID |
651100 |
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 # |
R7979 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
97990470-98030328 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 98026117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 571
(E571K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051226]
[ENSMUST00000163507]
[ENSMUST00000230445]
|
AlphaFold |
P47857 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051226
AA Change: E571K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059801 Gene: ENSMUSG00000033065 AA Change: E571K
Domain | Start | End | E-Value | Type |
Pfam:PFK
|
17 |
324 |
1.3e-111 |
PFAM |
Pfam:PFK
|
402 |
687 |
1e-93 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163507
AA Change: E571K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132803 Gene: ENSMUSG00000033065 AA Change: E571K
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 damaging
Transcript: ENSMUST00000230445
AA Change: E571K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
A |
T |
5: 8,186,804 (GRCm39) |
|
probably null |
Het |
Ahnak |
A |
T |
19: 8,988,796 (GRCm39) |
D3360V |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,100,381 (GRCm39) |
L2681P |
probably benign |
Het |
Ankrd52 |
C |
A |
10: 128,217,857 (GRCm39) |
A279E |
probably damaging |
Het |
Arhgef4 |
T |
C |
1: 34,760,978 (GRCm39) |
L78P |
unknown |
Het |
Cfap300 |
T |
A |
9: 8,027,111 (GRCm39) |
E142D |
possibly damaging |
Het |
Chpf |
A |
T |
1: 75,453,904 (GRCm39) |
C291* |
probably null |
Het |
Cr1l |
T |
C |
1: 194,800,030 (GRCm39) |
T215A |
probably damaging |
Het |
Ctc1 |
A |
T |
11: 68,918,209 (GRCm39) |
K444* |
probably null |
Het |
Dscaml1 |
T |
C |
9: 45,595,029 (GRCm39) |
S711P |
probably damaging |
Het |
Elavl4 |
A |
T |
4: 110,068,845 (GRCm39) |
V176D |
probably benign |
Het |
Faim2 |
A |
G |
15: 99,408,515 (GRCm39) |
V251A |
possibly damaging |
Het |
Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
Frmd3 |
G |
A |
4: 74,071,852 (GRCm39) |
V245I |
probably damaging |
Het |
Gls |
T |
C |
1: 52,230,271 (GRCm39) |
H480R |
probably damaging |
Het |
Gm30191 |
A |
G |
4: 133,977,223 (GRCm39) |
D145G |
possibly damaging |
Het |
Grik2 |
T |
C |
10: 49,280,438 (GRCm39) |
I438V |
probably benign |
Het |
Klhl3 |
G |
T |
13: 58,211,611 (GRCm39) |
Q197K |
probably benign |
Het |
Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
Mmp23 |
G |
A |
4: 155,736,462 (GRCm39) |
T193I |
possibly damaging |
Het |
Mmrn1 |
T |
C |
6: 60,952,961 (GRCm39) |
V414A |
probably damaging |
Het |
Mmrn2 |
C |
T |
14: 34,118,138 (GRCm39) |
Q61* |
probably null |
Het |
Mprip |
G |
A |
11: 59,657,682 (GRCm39) |
R852H |
probably damaging |
Het |
Nars2 |
A |
C |
7: 96,711,868 (GRCm39) |
N461T |
probably damaging |
Het |
Nomo1 |
A |
G |
7: 45,690,986 (GRCm39) |
N124S |
probably null |
Het |
Or1e17 |
G |
T |
11: 73,831,401 (GRCm39) |
V110F |
probably benign |
Het |
Or1j17 |
A |
G |
2: 36,578,106 (GRCm39) |
I31V |
probably benign |
Het |
Peak1 |
T |
A |
9: 56,114,676 (GRCm39) |
N1422Y |
possibly damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Ptpn2 |
A |
T |
18: 67,814,641 (GRCm39) |
C123S |
possibly damaging |
Het |
Raph1 |
G |
A |
1: 60,565,148 (GRCm39) |
T113I |
probably benign |
Het |
Rsf1 |
A |
G |
7: 97,334,920 (GRCm39) |
E1351G |
|
Het |
Serinc4 |
C |
T |
2: 121,285,793 (GRCm39) |
V163I |
probably benign |
Het |
Slc7a2 |
G |
T |
8: 41,357,541 (GRCm39) |
G270C |
probably damaging |
Het |
Smc2 |
G |
A |
4: 52,450,857 (GRCm39) |
R225Q |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 40,468,601 (GRCm39) |
S144P |
probably damaging |
Het |
Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
Tmem156 |
T |
C |
5: 65,237,352 (GRCm39) |
T103A |
possibly damaging |
Het |
Tns3 |
A |
T |
11: 8,442,701 (GRCm39) |
M554K |
probably benign |
Het |
Tpp2 |
A |
T |
1: 43,979,297 (GRCm39) |
I65F |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
Ttc39c |
T |
A |
18: 12,866,022 (GRCm39) |
H473Q |
probably benign |
Het |
Vmn2r68 |
A |
C |
7: 84,883,625 (GRCm39) |
|
probably null |
Het |
Wnk1 |
T |
C |
6: 120,014,409 (GRCm39) |
D62G |
probably damaging |
Het |
Wnk2 |
A |
T |
13: 49,248,884 (GRCm39) |
M389K |
probably damaging |
Het |
Zfp292 |
G |
A |
4: 34,809,198 (GRCm39) |
T1287M |
probably benign |
Het |
Zfp451 |
G |
A |
1: 33,821,219 (GRCm39) |
S211L |
probably benign |
Het |
Zfp710 |
T |
C |
7: 79,738,327 (GRCm39) |
S626P |
unknown |
Het |
Zfp787 |
C |
T |
7: 6,146,094 (GRCm39) |
E16K |
probably damaging |
Het |
Zfp788 |
G |
T |
7: 41,284,324 (GRCm39) |
|
probably null |
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 |
R3688:Pfkm
|
UTSW |
15 |
98,029,398 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- AAGCTCTACAATGCAGTGCC -3'
(R):5'- CGGTTGCTAAAGGACCACTCAG -3'
Sequencing Primer
(F):5'- AATGCAGTGCCCTCTCTGAATG -3'
(R):5'- TTGCTAAAGGACCACTCAGGAGATAG -3'
|
Posted On |
2020-09-15 |