Incidental Mutation 'IGL01843:Pfkm'
| ID |
178098 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.863)
|
| Stock # |
IGL01843
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97990470-98030328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98027187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 620
(V620A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051226]
[ENSMUST00000163507]
[ENSMUST00000230445]
|
| AlphaFold |
P47857 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051226
AA Change: V620A
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: V620A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
17 |
324 |
1.3e-111 |
PFAM |
|
Pfam:PFK
|
402 |
687 |
1e-93 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163507
AA Change: V620A
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: V620A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
16 |
326 |
2.9e-138 |
PFAM |
|
Pfam:PFK
|
401 |
688 |
1.8e-61 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230445
AA Change: V620A
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,530,301 (GRCm39) |
|
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,989,169 (GRCm39) |
L782P |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,408,765 (GRCm39) |
D1914G |
unknown |
Het |
| C8a |
G |
A |
4: 104,719,808 (GRCm39) |
Q57* |
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,850,069 (GRCm39) |
S1144P |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,255,598 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,924,268 (GRCm39) |
Q198R |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,453,700 (GRCm39) |
I228V |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,833,222 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,522,395 (GRCm39) |
|
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 43,994,046 (GRCm39) |
V440A |
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,085,281 (GRCm39) |
D620G |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,449 (GRCm39) |
L1202* |
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,542,798 (GRCm39) |
H3538P |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,067,292 (GRCm39) |
Q312L |
probably benign |
Het |
| E2f7 |
T |
G |
10: 110,610,596 (GRCm39) |
V407G |
probably benign |
Het |
| F13b |
T |
C |
1: 139,444,165 (GRCm39) |
S500P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,395 (GRCm39) |
I2002V |
probably benign |
Het |
| Flywch1 |
T |
A |
17: 23,979,319 (GRCm39) |
M439L |
possibly damaging |
Het |
| Gcn1 |
C |
A |
5: 115,757,759 (GRCm39) |
A2488E |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,208,600 (GRCm39) |
S832P |
probably damaging |
Het |
| Hnrnpr |
T |
C |
4: 136,066,724 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,083,165 (GRCm39) |
I177T |
probably benign |
Het |
| Irgm2 |
G |
A |
11: 58,111,167 (GRCm39) |
G298D |
probably benign |
Het |
| Kcnk7 |
G |
A |
19: 5,756,230 (GRCm39) |
G152D |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,012,654 (GRCm39) |
T620A |
probably benign |
Het |
| Mapk12 |
A |
G |
15: 89,021,669 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,297,572 (GRCm39) |
Y315C |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,769,905 (GRCm39) |
|
probably null |
Het |
| Met |
T |
A |
6: 17,491,700 (GRCm39) |
I154N |
probably damaging |
Het |
| Mtrex |
T |
C |
13: 113,055,095 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,328,772 (GRCm39) |
R234G |
possibly damaging |
Het |
| Olfm5 |
C |
A |
7: 103,809,951 (GRCm39) |
V137F |
possibly damaging |
Het |
| Or4d11 |
G |
T |
19: 12,014,041 (GRCm39) |
H22N |
probably benign |
Het |
| Pcdha11 |
C |
T |
18: 37,145,886 (GRCm39) |
T659I |
probably benign |
Het |
| Rbak |
A |
G |
5: 143,162,355 (GRCm39) |
|
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,816,844 (GRCm39) |
I401M |
probably benign |
Het |
| Rragc |
T |
C |
4: 123,814,852 (GRCm39) |
S183P |
probably damaging |
Het |
| Septin3 |
A |
G |
15: 82,163,814 (GRCm39) |
|
probably benign |
Het |
| Slc22a6 |
A |
T |
19: 8,603,578 (GRCm39) |
|
probably benign |
Het |
| Spag4 |
A |
T |
2: 155,910,417 (GRCm39) |
T348S |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,054,623 (GRCm39) |
R2157G |
probably benign |
Het |
| Tmem168 |
G |
A |
6: 13,582,940 (GRCm39) |
T263M |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,625,007 (GRCm39) |
|
probably null |
Het |
| Tnpo2 |
T |
A |
8: 85,777,137 (GRCm39) |
V549E |
probably damaging |
Het |
| Ttll7 |
A |
C |
3: 146,645,776 (GRCm39) |
K545Q |
possibly damaging |
Het |
| Tubgcp5 |
T |
G |
7: 55,449,221 (GRCm39) |
D139E |
probably benign |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,861 (GRCm39) |
N30Y |
probably damaging |
Het |
| Vmn2r25 |
T |
G |
6: 123,829,962 (GRCm39) |
D63A |
possibly damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,485 (GRCm39) |
L622Q |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,222,148 (GRCm39) |
M691V |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,372,729 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation