Incidental Mutation 'R8482:Pfkm'
| ID |
657590 |
| 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 |
067926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R8482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
97990470-98030328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98029864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 756
(E756G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051226]
[ENSMUST00000059112]
[ENSMUST00000123626]
[ENSMUST00000123922]
[ENSMUST00000143400]
[ENSMUST00000163507]
[ENSMUST00000230445]
|
| AlphaFold |
P47857 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051226
AA Change: E756G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: E756G
| 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: ENSMUST00000059112
|
| SMART Domains |
Protein: ENSMUSP00000057864
Gene: ENSMUSG00000048175
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123626
|
| SMART Domains |
Protein: ENSMUSP00000121383
Gene: ENSMUSG00000048175
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123922
|
| SMART Domains |
Protein: ENSMUSP00000119481
Gene: ENSMUSG00000048175
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143400
|
| SMART Domains |
Protein: ENSMUSP00000115813
Gene: ENSMUSG00000048175
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163507
AA Change: E756G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: E756G
| 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: ENSMUST00000230445
AA Change: E756G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (49/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,746,492 (GRCm39) |
V711I |
probably benign |
Het |
| Adprh |
A |
T |
16: 38,267,871 (GRCm39) |
M138K |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,591,107 (GRCm39) |
|
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,870 (GRCm39) |
T410M |
probably damaging |
Het |
| Atxn1 |
A |
T |
13: 45,721,426 (GRCm39) |
S156R |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,934,524 (GRCm39) |
T2850A |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,852,581 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ccdc97 |
T |
C |
7: 25,414,427 (GRCm39) |
D109G |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,441,147 (GRCm39) |
R196* |
probably null |
Het |
| Clec4a2 |
T |
C |
6: 123,100,630 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,720,477 (GRCm39) |
I317T |
probably damaging |
Het |
| D630003M21Rik |
G |
T |
2: 158,058,852 (GRCm39) |
S349R |
probably benign |
Het |
| Eml5 |
C |
A |
12: 98,842,560 (GRCm39) |
L179F |
probably damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Ets2 |
A |
T |
16: 95,516,019 (GRCm39) |
M200L |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,158,263 (GRCm39) |
T1116A |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,751,616 (GRCm38) |
V24A |
probably benign |
Het |
| Gm6685 |
T |
C |
11: 28,289,195 (GRCm39) |
N207S |
probably benign |
Het |
| Hdc |
G |
A |
2: 126,436,125 (GRCm39) |
T582M |
probably benign |
Het |
| Hmgxb4 |
G |
A |
8: 75,756,222 (GRCm39) |
C575Y |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,090,527 (GRCm39) |
S1164T |
probably benign |
Het |
| Ldb1 |
C |
A |
19: 46,024,709 (GRCm39) |
D5Y |
probably null |
Het |
| Lpcat1 |
G |
A |
13: 73,659,044 (GRCm39) |
R320H |
probably benign |
Het |
| Lrfn4 |
T |
C |
19: 4,664,333 (GRCm39) |
D67G |
probably damaging |
Het |
| Myo15b |
C |
T |
11: 115,774,083 (GRCm39) |
Q550* |
probably null |
Het |
| Myo18b |
C |
A |
5: 113,019,489 (GRCm39) |
E43* |
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,241,719 (GRCm39) |
C271R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,532,827 (GRCm39) |
S690G |
probably damaging |
Het |
| Ngly1 |
T |
C |
14: 16,310,377 (GRCm38) |
S501P |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 70,999,901 (GRCm39) |
|
probably null |
Het |
| Npw |
A |
G |
17: 24,876,396 (GRCm39) |
W172R |
probably benign |
Het |
| Nudt8 |
T |
C |
19: 4,050,849 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,219,352 (GRCm39) |
Y458F |
probably damaging |
Het |
| Or10ag56 |
G |
A |
2: 87,139,726 (GRCm39) |
V198I |
probably benign |
Het |
| Osbpl5 |
T |
A |
7: 143,258,731 (GRCm39) |
T280S |
probably benign |
Het |
| Pex1 |
A |
T |
5: 3,662,923 (GRCm39) |
I505F |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,558,166 (GRCm39) |
I282V |
possibly damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,330,410 (GRCm39) |
S321P |
probably benign |
Het |
| Prxl2a |
C |
T |
14: 40,719,723 (GRCm39) |
E164K |
probably benign |
Het |
| Qdpr |
G |
T |
5: 45,596,688 (GRCm39) |
Q159K |
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,206 (GRCm39) |
M45V |
probably benign |
Het |
| Rnaset2b |
G |
A |
17: 7,263,908 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
A |
11: 114,563,114 (GRCm39) |
*71R |
probably null |
Het |
| Sacs |
G |
T |
14: 61,440,404 (GRCm39) |
V817L |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,495,889 (GRCm39) |
F133S |
probably damaging |
Het |
| Sgcg |
G |
A |
14: 61,477,856 (GRCm39) |
L78F |
probably damaging |
Het |
| Slc19a1 |
A |
G |
10: 76,885,497 (GRCm39) |
R466G |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,309,451 (GRCm39) |
T1736A |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,674,511 (GRCm39) |
I1854V |
probably benign |
Het |
| Zfp652 |
T |
C |
11: 95,643,719 (GRCm39) |
S306P |
probably damaging |
Het |
| Zfp998 |
C |
T |
13: 66,579,797 (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 |
|
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 |
|
R7979:Pfkm
|
UTSW |
15 |
98,026,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCTTTCCTTTGGGTAGTACCAC -3'
(R):5'- GTTGCAGGCATGGAGTACAG -3'
Sequencing Primer
(F):5'- CCTTTGGGTAGTACCACCTGTG -3'
(R):5'- CAGGCATGGAGTACAGGGAAAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation