Incidental Mutation 'R5008:Pfkm'
| ID |
390311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkm
|
| Ensembl Gene |
ENSMUSG00000033065 |
| Gene Name |
phosphofructokinase, muscle |
| Synonyms |
PFK-A, Pfk4, Pfk-4, Pfkx, PFK-M |
| MMRRC Submission |
042599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R5008 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
97990470-98030328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98020570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 233
(C233Y)
|
| 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: C233Y
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: C233Y
| 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: C233Y
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: C233Y
| 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: C233Y
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.0585 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (73/75) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
G |
7: 27,278,192 (GRCm39) |
T242R |
probably damaging |
Het |
| 2310057N15Rik |
A |
G |
16: 88,570,663 (GRCm39) |
Y126H |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,894,859 (GRCm39) |
Y579* |
probably null |
Het |
| Chchd5 |
A |
T |
2: 128,972,319 (GRCm39) |
|
probably null |
Het |
| Chd1l |
T |
C |
3: 97,491,224 (GRCm39) |
N423D |
probably damaging |
Het |
| Cntnap1 |
G |
A |
11: 101,079,567 (GRCm39) |
W1268* |
probably null |
Het |
| Col2a1 |
G |
A |
15: 97,877,550 (GRCm39) |
A1011V |
probably benign |
Het |
| Cst11 |
A |
G |
2: 148,612,325 (GRCm39) |
I104T |
probably benign |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dnaaf4 |
T |
C |
9: 72,879,600 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,001,403 (GRCm39) |
F847L |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,323,439 (GRCm39) |
H194L |
possibly damaging |
Het |
| Dync2i2 |
C |
A |
2: 29,922,781 (GRCm39) |
R322L |
probably benign |
Het |
| Frmd5 |
C |
A |
2: 121,379,341 (GRCm39) |
R414L |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 65,915,585 (GRCm39) |
R592L |
probably benign |
Het |
| Gm38706 |
T |
A |
6: 130,461,580 (GRCm39) |
|
noncoding transcript |
Het |
| Gm38706 |
T |
A |
6: 130,461,983 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep3 |
A |
G |
4: 119,956,114 (GRCm39) |
K1477E |
probably benign |
Het |
| Igsf3 |
C |
T |
3: 101,358,233 (GRCm39) |
T708M |
probably damaging |
Het |
| Ikzf4 |
T |
G |
10: 128,477,119 (GRCm39) |
E64A |
probably benign |
Het |
| Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
| Krt87 |
T |
A |
15: 101,389,105 (GRCm39) |
I76F |
probably damaging |
Het |
| Lat2 |
A |
G |
5: 134,631,991 (GRCm39) |
V152A |
probably benign |
Het |
| Lrp12 |
C |
T |
15: 39,741,852 (GRCm39) |
D288N |
probably damaging |
Het |
| Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,144,358 (GRCm39) |
S1243T |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,088,412 (GRCm39) |
F892I |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,323,731 (GRCm39) |
N924S |
possibly damaging |
Het |
| Npnt |
C |
T |
3: 132,612,218 (GRCm39) |
C218Y |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,193,991 (GRCm39) |
I48N |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,288 (GRCm39) |
M260K |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,905 (GRCm39) |
F289I |
probably damaging |
Het |
| Pigq |
A |
G |
17: 26,153,177 (GRCm39) |
V338A |
probably benign |
Het |
| Pld4 |
A |
T |
12: 112,734,484 (GRCm39) |
N415I |
possibly damaging |
Het |
| Pmm1 |
A |
T |
15: 81,842,095 (GRCm39) |
|
probably null |
Het |
| Polg |
G |
T |
7: 79,109,822 (GRCm39) |
P394T |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,882,749 (GRCm39) |
I1359L |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,057,836 (GRCm39) |
S148G |
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,748,548 (GRCm39) |
N674D |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,806,896 (GRCm39) |
|
probably benign |
Het |
| Rasa3 |
A |
T |
8: 13,634,959 (GRCm39) |
C453* |
probably null |
Het |
| Repin1 |
T |
C |
6: 48,573,542 (GRCm39) |
V101A |
probably damaging |
Het |
| Rnf186 |
A |
T |
4: 138,694,540 (GRCm39) |
M27L |
probably benign |
Het |
| Rpa1 |
A |
G |
11: 75,204,125 (GRCm39) |
|
probably null |
Het |
| Rph3a |
G |
T |
5: 121,083,454 (GRCm39) |
N605K |
probably damaging |
Het |
| Rps18 |
A |
T |
17: 34,171,258 (GRCm39) |
|
probably null |
Het |
| Scgn |
A |
G |
13: 24,174,958 (GRCm39) |
I20T |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,848,452 (GRCm39) |
V652E |
possibly damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,943,414 (GRCm39) |
H29R |
probably damaging |
Het |
| Slc34a3 |
C |
T |
2: 25,120,854 (GRCm39) |
V383I |
possibly damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,309,917 (GRCm39) |
M382V |
possibly damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,169 (GRCm39) |
S75R |
probably damaging |
Het |
| Stat5b |
G |
C |
11: 100,693,309 (GRCm39) |
H111D |
probably benign |
Het |
| Tanc2 |
G |
A |
11: 105,515,886 (GRCm39) |
M1I |
probably null |
Het |
| Tbcel |
C |
T |
9: 42,327,419 (GRCm39) |
G328E |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,284,358 (GRCm39) |
R909L |
possibly damaging |
Het |
| Tnip1 |
A |
T |
11: 54,828,810 (GRCm39) |
M119K |
probably benign |
Het |
| Zbbx |
A |
C |
3: 75,058,755 (GRCm39) |
S51A |
possibly damaging |
Het |
| Zc3h12c |
T |
C |
9: 52,028,000 (GRCm39) |
N454S |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
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 |
|
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'- TCAACAGGTCTAGTGCTCATCTG -3'
(R):5'- ATGTTGAGACGAGAGCCACG -3'
Sequencing Primer
(F):5'- AGTGCTCATCTGCCTCAAGAATG -3'
(R):5'- ACGGGTCCTTGTCTGGTCAAAAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation