Incidental Mutation 'IGL03241:Pfkm'
| ID |
414279 |
| 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: 0.797)
|
| Stock # |
IGL03241
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97990470-98030328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98021061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 293
(V293A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051226]
[ENSMUST00000163507]
[ENSMUST00000229280]
[ENSMUST00000229344]
[ENSMUST00000230445]
|
| AlphaFold |
P47857 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051226
AA Change: V293A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: V293A
| 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: ENSMUST00000163507
AA Change: V293A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: V293A
| 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: ENSMUST00000229280
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229344
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230445
AA Change: V293A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,236,436 (GRCm39) |
E1126V |
possibly damaging |
Het |
| Acnat1 |
A |
G |
4: 49,447,702 (GRCm39) |
V275A |
probably benign |
Het |
| Adamts15 |
G |
A |
9: 30,815,781 (GRCm39) |
P692S |
probably damaging |
Het |
| Aqp7 |
A |
T |
4: 41,045,270 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
A |
T |
18: 39,362,970 (GRCm39) |
I413F |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,713,267 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
C |
T |
15: 23,227,019 (GRCm39) |
T160I |
probably benign |
Het |
| Cfap206 |
T |
C |
4: 34,711,553 (GRCm39) |
Y448C |
probably damaging |
Het |
| Clec4a4 |
T |
C |
6: 122,967,332 (GRCm39) |
S3P |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,289,288 (GRCm39) |
H37Q |
possibly damaging |
Het |
| F7 |
A |
T |
8: 13,078,779 (GRCm39) |
E70V |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,274,027 (GRCm39) |
Q418H |
possibly damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,274,028 (GRCm39) |
E419K |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,397,975 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
T |
A |
14: 50,272,525 (GRCm39) |
M112L |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,934 (GRCm39) |
S407P |
possibly damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,290,749 (GRCm39) |
V111A |
probably benign |
Het |
| St6galnac5 |
G |
T |
3: 152,552,223 (GRCm39) |
Q115K |
probably benign |
Het |
| Tex56 |
G |
T |
13: 35,128,313 (GRCm39) |
A177S |
probably damaging |
Het |
| Timmdc1 |
G |
A |
16: 38,331,071 (GRCm39) |
|
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,983,820 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
A |
T |
8: 65,435,358 (GRCm39) |
I364N |
probably damaging |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,126 (GRCm39) |
N293Y |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,830 (GRCm39) |
T689A |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,148,438 (GRCm39) |
V111A |
probably benign |
Het |
| Zfp114 |
C |
T |
7: 23,880,437 (GRCm39) |
T261I |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,005,645 (GRCm39) |
T850A |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation