Incidental Mutation 'IGL02090:Pfkm'
| ID |
279441 |
| 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 # |
IGL02090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97990470-98030328 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 98021121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051226]
[ENSMUST00000163507]
[ENSMUST00000229280]
[ENSMUST00000229344]
[ENSMUST00000230445]
|
| AlphaFold |
P47857 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051226
|
| SMART Domains |
Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
17 |
324 |
1.3e-111 |
PFAM |
|
Pfam:PFK
|
402 |
687 |
1e-93 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163507
|
| SMART Domains |
Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
| 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 null
Transcript: ENSMUST00000230445
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace2 |
A |
G |
X: 162,968,701 (GRCm39) |
T482A |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,988,546 (GRCm39) |
I173T |
possibly damaging |
Het |
| Apoa1 |
T |
C |
9: 46,140,548 (GRCm39) |
S60P |
possibly damaging |
Het |
| Blnk |
A |
G |
19: 40,922,929 (GRCm39) |
V396A |
probably benign |
Het |
| Borcs8 |
A |
G |
8: 70,619,030 (GRCm39) |
D204G |
probably damaging |
Het |
| Calhm5 |
G |
A |
10: 33,972,261 (GRCm39) |
P58L |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,373,336 (GRCm39) |
|
probably benign |
Het |
| Cdkal1 |
T |
G |
13: 29,701,493 (GRCm39) |
I319L |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,922 (GRCm39) |
T2560S |
possibly damaging |
Het |
| Chd8 |
A |
G |
14: 52,464,691 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,689,932 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,866,876 (GRCm39) |
N2265S |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,240,187 (GRCm39) |
|
probably benign |
Het |
| Epgn |
G |
A |
5: 91,181,816 (GRCm39) |
G133E |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,766 (GRCm39) |
V13F |
probably benign |
Het |
| Gabarapl2 |
A |
G |
8: 112,667,831 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gigyf1 |
G |
A |
5: 137,523,826 (GRCm39) |
|
probably null |
Het |
| Gm6040 |
G |
A |
8: 21,407,169 (GRCm39) |
|
probably benign |
Het |
| Gm8229 |
T |
C |
14: 44,604,054 (GRCm39) |
L81P |
unknown |
Het |
| Gstz1 |
A |
G |
12: 87,210,528 (GRCm39) |
E137G |
probably benign |
Het |
| Htra1 |
T |
C |
7: 130,538,108 (GRCm39) |
V36A |
probably benign |
Het |
| Ifnlr1 |
T |
C |
4: 135,432,578 (GRCm39) |
V338A |
probably benign |
Het |
| Igsf8 |
A |
G |
1: 172,140,156 (GRCm39) |
|
probably benign |
Het |
| Khdc1a |
T |
A |
1: 21,421,212 (GRCm39) |
F132L |
probably benign |
Het |
| Kifc3 |
G |
A |
8: 95,829,108 (GRCm39) |
S561L |
probably damaging |
Het |
| Mpi |
T |
C |
9: 57,457,936 (GRCm39) |
T89A |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,111,467 (GRCm39) |
M1281K |
probably damaging |
Het |
| Or4c117 |
T |
C |
2: 88,956,021 (GRCm39) |
N18S |
probably benign |
Het |
| Or4k49 |
G |
T |
2: 111,495,333 (GRCm39) |
C254F |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,181 (GRCm39) |
I202L |
probably benign |
Het |
| Or6c66b |
T |
C |
10: 129,377,176 (GRCm39) |
Y257H |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,949,571 (GRCm39) |
G2403D |
probably damaging |
Het |
| Pdgfb |
C |
A |
15: 79,898,184 (GRCm39) |
A6S |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,789,041 (GRCm39) |
M274V |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,074,001 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,304,041 (GRCm39) |
D458G |
possibly damaging |
Het |
| Sertad3 |
C |
T |
7: 27,175,950 (GRCm39) |
S128F |
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,380,123 (GRCm39) |
L903Q |
probably damaging |
Het |
| Slc15a5 |
C |
T |
6: 138,020,598 (GRCm39) |
R245H |
probably benign |
Het |
| Slc24a5 |
A |
T |
2: 124,910,218 (GRCm39) |
T40S |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,738,248 (GRCm39) |
N539S |
possibly damaging |
Het |
| Tlr11 |
A |
G |
14: 50,600,489 (GRCm39) |
D825G |
probably damaging |
Het |
| Top3b |
T |
G |
16: 16,709,334 (GRCm39) |
V674G |
possibly damaging |
Het |
| Urb2 |
G |
A |
8: 124,754,976 (GRCm39) |
V228I |
probably benign |
Het |
| Usp24 |
C |
T |
4: 106,268,623 (GRCm39) |
A2061V |
possibly damaging |
Het |
| Wdr72 |
C |
A |
9: 74,062,212 (GRCm39) |
H453N |
possibly damaging |
Het |
| Xkr9 |
T |
C |
1: 13,771,600 (GRCm39) |
M372T |
probably damaging |
Het |
| Zc3h12d |
T |
G |
10: 7,743,096 (GRCm39) |
S289A |
probably benign |
Het |
| Zfp607b |
A |
T |
7: 27,398,140 (GRCm39) |
M75L |
possibly damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation