Incidental Mutation 'R3154:Pfkm'
| ID |
263432 |
| 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 |
040605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R3154 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97990470-98030328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98016090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 90
(V90D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051226]
[ENSMUST00000163507]
[ENSMUST00000229280]
[ENSMUST00000229344]
[ENSMUST00000230445]
|
| AlphaFold |
P47857 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051226
AA Change: V38D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: V38D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
17 |
324 |
1.3e-111 |
PFAM |
|
Pfam:PFK
|
402 |
687 |
1e-93 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163507
AA Change: V38D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: V38D
| 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 damaging
Transcript: ENSMUST00000229280
AA Change: V38D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229344
AA Change: V90D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230445
AA Change: V38D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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 |
|---|
| 6820408C15Rik |
A |
C |
2: 152,282,744 (GRCm39) |
N200H |
probably damaging |
Het |
| Abca17 |
T |
A |
17: 24,547,720 (GRCm39) |
D218V |
probably damaging |
Het |
| Ap1b1 |
T |
C |
11: 4,973,135 (GRCm39) |
V326A |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,186,322 (GRCm39) |
V1710E |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Cobll1 |
A |
T |
2: 64,937,394 (GRCm39) |
M406K |
probably benign |
Het |
| Cyp2d34 |
T |
C |
15: 82,501,767 (GRCm39) |
K248E |
probably benign |
Het |
| Dcdc2a |
A |
C |
13: 25,286,340 (GRCm39) |
I125L |
probably benign |
Het |
| Dgat1 |
G |
A |
15: 76,386,721 (GRCm39) |
L439F |
probably benign |
Het |
| Disc1 |
T |
A |
8: 125,862,043 (GRCm39) |
S472T |
probably damaging |
Het |
| Dnajb3 |
C |
A |
1: 88,132,773 (GRCm39) |
V210F |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,570,230 (GRCm39) |
S1394G |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,632,242 (GRCm39) |
C2335S |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,127,603 (GRCm39) |
S2P |
unknown |
Het |
| Gpld1 |
G |
T |
13: 25,140,146 (GRCm39) |
|
probably null |
Het |
| Gsc2 |
G |
A |
16: 17,732,364 (GRCm39) |
R137W |
probably damaging |
Het |
| Gsdme |
T |
C |
6: 50,228,343 (GRCm39) |
R42G |
probably damaging |
Het |
| Gtf3c5 |
T |
C |
2: 28,469,548 (GRCm39) |
T119A |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 120,106,389 (GRCm39) |
S266P |
probably damaging |
Het |
| Htr2a |
T |
C |
14: 74,943,262 (GRCm39) |
F281L |
probably benign |
Het |
| Hus1b |
T |
C |
13: 31,131,236 (GRCm39) |
K141R |
probably benign |
Het |
| Ireb2 |
T |
C |
9: 54,793,230 (GRCm39) |
|
probably null |
Het |
| Klhdc7a |
T |
A |
4: 139,693,024 (GRCm39) |
Y641F |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,193,190 (GRCm39) |
E57G |
possibly damaging |
Het |
| Map4 |
A |
G |
9: 109,828,860 (GRCm39) |
T82A |
probably benign |
Het |
| Mthfr |
T |
G |
4: 148,136,061 (GRCm39) |
M353R |
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,240,083 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,346,473 (GRCm39) |
|
probably null |
Het |
| Myo15a |
T |
A |
11: 60,370,186 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
T |
14: 56,101,044 (GRCm39) |
Q278L |
possibly damaging |
Het |
| Pced1b |
T |
G |
15: 97,282,423 (GRCm39) |
|
probably null |
Het |
| Penk |
T |
C |
4: 4,134,152 (GRCm39) |
D165G |
probably damaging |
Het |
| Pgk2 |
T |
A |
17: 40,519,134 (GRCm39) |
D98V |
probably damaging |
Het |
| Psg28 |
C |
A |
7: 18,160,348 (GRCm39) |
A283S |
possibly damaging |
Het |
| Rgl3 |
A |
G |
9: 21,892,070 (GRCm39) |
L338P |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 51,927,077 (GRCm39) |
H2181R |
probably benign |
Het |
| Slc38a11 |
C |
T |
2: 65,160,679 (GRCm39) |
C305Y |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,378,186 (GRCm39) |
V798E |
probably damaging |
Het |
| Spesp1 |
G |
A |
9: 62,189,376 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
A |
T |
6: 131,286,975 (GRCm39) |
Y84* |
probably null |
Het |
| Syt2 |
T |
C |
1: 134,669,599 (GRCm39) |
L80P |
possibly damaging |
Het |
| Tra2a |
C |
T |
6: 49,222,446 (GRCm39) |
|
probably benign |
Het |
| Trim10 |
T |
A |
17: 37,182,580 (GRCm39) |
C149S |
probably damaging |
Het |
| Vmn2r38 |
T |
C |
7: 9,097,689 (GRCm39) |
T135A |
probably benign |
Het |
| Wipf1 |
A |
G |
2: 73,267,834 (GRCm39) |
V188A |
possibly damaging |
Het |
| Yipf2 |
G |
A |
9: 21,501,197 (GRCm39) |
A67V |
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,286,719 (GRCm39) |
E96G |
probably benign |
Het |
| Zic3 |
G |
A |
X: 57,076,838 (GRCm39) |
V100M |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGACCCCTTGACCGAAAC -3'
(R):5'- GGGTCCCAGCATTCTTGTTG -3'
Sequencing Primer
(F):5'- CCTTGACCGAAACTGGGGAG -3'
(R):5'- CCAGCATTCTTGTTGAAGTCACAGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation