Incidental Mutation 'R7116:Pfkl'
ID |
551784 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkl
|
Ensembl Gene |
ENSMUSG00000020277 |
Gene Name |
phosphofructokinase, liver, B-type |
Synonyms |
|
MMRRC Submission |
045207-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7116 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77837249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 108
(H108R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
[ENSMUST00000145716]
[ENSMUST00000218383]
|
AlphaFold |
P12382 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020522
AA Change: H108R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020522 Gene: ENSMUSG00000020277 AA Change: H108R
Domain | Start | End | E-Value | Type |
Pfam:PFK
|
17 |
324 |
4.7e-109 |
PFAM |
Pfam:PFK
|
401 |
686 |
1.9e-98 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145716
AA Change: H79R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218383
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
A |
G |
12: 80,251,751 (GRCm39) |
S109P |
probably damaging |
Het |
Afg3l1 |
T |
G |
8: 124,216,601 (GRCm39) |
L280R |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,369,943 (GRCm39) |
S129T |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,622,869 (GRCm39) |
S328P |
probably damaging |
Het |
Aox3 |
A |
T |
1: 58,192,689 (GRCm39) |
E554D |
probably benign |
Het |
Bcl11a |
T |
C |
11: 24,113,839 (GRCm39) |
V394A |
probably damaging |
Het |
Cass4 |
A |
G |
2: 172,269,889 (GRCm39) |
Y657C |
unknown |
Het |
Ccdc88a |
C |
T |
11: 29,454,051 (GRCm39) |
A1738V |
probably benign |
Het |
Cfap74 |
T |
C |
4: 155,539,518 (GRCm39) |
F948L |
unknown |
Het |
Chgb |
A |
T |
2: 132,623,237 (GRCm39) |
|
probably benign |
Het |
Coro1c |
C |
T |
5: 113,990,267 (GRCm39) |
W138* |
probably null |
Het |
Dgkb |
A |
G |
12: 38,031,989 (GRCm39) |
Q17R |
probably benign |
Het |
Esco2 |
A |
G |
14: 66,064,006 (GRCm39) |
Y393H |
probably damaging |
Het |
Eya3 |
T |
A |
4: 132,422,110 (GRCm39) |
D228E |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,173,162 (GRCm39) |
D2517G |
probably damaging |
Het |
Fry |
T |
A |
5: 150,319,334 (GRCm39) |
|
probably null |
Het |
Gal3st2b |
A |
T |
1: 93,868,498 (GRCm39) |
Q243L |
possibly damaging |
Het |
Gimap9 |
C |
T |
6: 48,654,989 (GRCm39) |
A192V |
probably benign |
Het |
Glg1 |
T |
A |
8: 111,905,589 (GRCm39) |
Q564L |
probably benign |
Het |
H2-Aa |
A |
T |
17: 34,502,601 (GRCm39) |
Y188* |
probably null |
Het |
Hira |
T |
C |
16: 18,730,864 (GRCm39) |
Y188H |
probably damaging |
Het |
Ighv8-8 |
C |
T |
12: 115,257,814 (GRCm39) |
D76N |
probably benign |
Het |
Irf6 |
T |
C |
1: 192,849,905 (GRCm39) |
F276L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,458,229 (GRCm39) |
C2000R |
probably damaging |
Het |
Jakmip3 |
T |
C |
7: 138,621,979 (GRCm39) |
V293A |
possibly damaging |
Het |
Kcnh7 |
A |
G |
2: 62,707,614 (GRCm39) |
V132A |
probably benign |
Het |
Kcnj1 |
A |
G |
9: 32,308,277 (GRCm39) |
T234A |
possibly damaging |
Het |
Kpna3 |
T |
A |
14: 61,605,635 (GRCm39) |
N470I |
probably benign |
Het |
Lamb2 |
T |
C |
9: 108,364,522 (GRCm39) |
F1121L |
probably damaging |
Het |
Lingo1 |
T |
C |
9: 56,527,911 (GRCm39) |
D232G |
probably benign |
Het |
Lpxn |
T |
A |
19: 12,788,622 (GRCm39) |
N70K |
probably benign |
Het |
Ltbp4 |
T |
A |
7: 27,004,852 (GRCm39) |
H1657L |
probably damaging |
Het |
Luzp2 |
C |
A |
7: 54,915,078 (GRCm39) |
F334L |
possibly damaging |
Het |
Mgat5b |
A |
T |
11: 116,835,785 (GRCm39) |
S142C |
possibly damaging |
Het |
Mroh7 |
G |
A |
4: 106,568,517 (GRCm39) |
T396I |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,417,487 (GRCm39) |
S3478P |
probably benign |
Het |
Nfatc2 |
A |
T |
2: 168,349,269 (GRCm39) |
M626K |
probably benign |
Het |
Nlrp14 |
A |
G |
7: 106,782,255 (GRCm39) |
D484G |
possibly damaging |
Het |
Npc1 |
T |
C |
18: 12,344,601 (GRCm39) |
Y423C |
probably damaging |
Het |
Nrsn1 |
A |
G |
13: 25,437,388 (GRCm39) |
I180T |
probably damaging |
Het |
Or11g25 |
A |
T |
14: 50,723,025 (GRCm39) |
I37F |
probably benign |
Het |
Or51a8 |
T |
A |
7: 102,549,842 (GRCm39) |
N89K |
probably benign |
Het |
Osbpl6 |
A |
T |
2: 76,426,225 (GRCm39) |
I935F |
probably benign |
Het |
Otog |
T |
C |
7: 45,947,689 (GRCm39) |
F96L |
probably damaging |
Het |
Pde1b |
T |
C |
15: 103,436,745 (GRCm39) |
L534P |
possibly damaging |
Het |
Pdzd8 |
C |
T |
19: 59,288,125 (GRCm39) |
E1092K |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,421,372 (GRCm39) |
V3047I |
probably benign |
Het |
Plag1 |
A |
T |
4: 3,904,812 (GRCm39) |
C126* |
probably null |
Het |
Pphln1 |
T |
A |
15: 93,353,406 (GRCm39) |
S229T |
probably benign |
Het |
Pramel5 |
C |
T |
4: 144,000,451 (GRCm39) |
D42N |
possibly damaging |
Het |
Psd3 |
A |
G |
8: 68,166,390 (GRCm39) |
V915A |
probably benign |
Het |
Ptdss1 |
T |
A |
13: 67,093,391 (GRCm39) |
I77N |
probably benign |
Het |
Rsbn1 |
T |
A |
3: 103,821,892 (GRCm39) |
C3* |
probably null |
Het |
Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Sv2c |
A |
T |
13: 96,113,152 (GRCm39) |
V599E |
probably damaging |
Het |
Vmn2r37 |
T |
C |
7: 9,220,898 (GRCm39) |
T322A |
probably benign |
Het |
Vmn2r60 |
T |
A |
7: 41,786,487 (GRCm39) |
M430K |
probably benign |
Het |
Wipf3 |
T |
A |
6: 54,458,904 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pfkl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01306:Pfkl
|
APN |
10 |
77,827,229 (GRCm39) |
missense |
probably benign |
|
IGL01759:Pfkl
|
APN |
10 |
77,836,565 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02697:Pfkl
|
APN |
10 |
77,835,752 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02870:Pfkl
|
APN |
10 |
77,836,673 (GRCm39) |
nonsense |
probably null |
|
IGL02942:Pfkl
|
APN |
10 |
77,835,967 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02972:Pfkl
|
APN |
10 |
77,824,108 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03342:Pfkl
|
APN |
10 |
77,841,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
ANU23:Pfkl
|
UTSW |
10 |
77,827,229 (GRCm39) |
missense |
probably benign |
|
R0226:Pfkl
|
UTSW |
10 |
77,828,368 (GRCm39) |
missense |
probably benign |
0.00 |
R0743:Pfkl
|
UTSW |
10 |
77,831,077 (GRCm39) |
critical splice donor site |
probably null |
|
R0899:Pfkl
|
UTSW |
10 |
77,841,273 (GRCm39) |
critical splice donor site |
probably null |
|
R0926:Pfkl
|
UTSW |
10 |
77,836,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R1264:Pfkl
|
UTSW |
10 |
77,829,250 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1782:Pfkl
|
UTSW |
10 |
77,824,554 (GRCm39) |
missense |
probably benign |
0.00 |
R1918:Pfkl
|
UTSW |
10 |
77,837,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R3743:Pfkl
|
UTSW |
10 |
77,832,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R4559:Pfkl
|
UTSW |
10 |
77,824,717 (GRCm39) |
missense |
probably benign |
0.00 |
R4804:Pfkl
|
UTSW |
10 |
77,827,228 (GRCm39) |
missense |
probably benign |
|
R4823:Pfkl
|
UTSW |
10 |
77,833,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R4906:Pfkl
|
UTSW |
10 |
77,824,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R5082:Pfkl
|
UTSW |
10 |
77,832,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R5216:Pfkl
|
UTSW |
10 |
77,845,504 (GRCm39) |
missense |
probably damaging |
0.99 |
R5380:Pfkl
|
UTSW |
10 |
77,833,423 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5816:Pfkl
|
UTSW |
10 |
77,837,856 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5840:Pfkl
|
UTSW |
10 |
77,824,558 (GRCm39) |
missense |
probably benign |
|
R5888:Pfkl
|
UTSW |
10 |
77,827,204 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6143:Pfkl
|
UTSW |
10 |
77,825,447 (GRCm39) |
missense |
probably damaging |
0.96 |
R6152:Pfkl
|
UTSW |
10 |
77,825,985 (GRCm39) |
missense |
probably benign |
0.00 |
R6251:Pfkl
|
UTSW |
10 |
77,825,399 (GRCm39) |
critical splice donor site |
probably null |
|
R6262:Pfkl
|
UTSW |
10 |
77,824,507 (GRCm39) |
critical splice donor site |
probably null |
|
R6382:Pfkl
|
UTSW |
10 |
77,835,671 (GRCm39) |
missense |
probably damaging |
0.98 |
R6407:Pfkl
|
UTSW |
10 |
77,824,507 (GRCm39) |
critical splice donor site |
probably null |
|
R6547:Pfkl
|
UTSW |
10 |
77,831,188 (GRCm39) |
missense |
probably benign |
|
R6704:Pfkl
|
UTSW |
10 |
77,832,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R6996:Pfkl
|
UTSW |
10 |
77,833,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R7154:Pfkl
|
UTSW |
10 |
77,837,289 (GRCm39) |
missense |
probably benign |
0.41 |
R7183:Pfkl
|
UTSW |
10 |
77,837,916 (GRCm39) |
nonsense |
probably null |
|
R7248:Pfkl
|
UTSW |
10 |
77,825,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R7252:Pfkl
|
UTSW |
10 |
77,829,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R7278:Pfkl
|
UTSW |
10 |
77,827,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R7974:Pfkl
|
UTSW |
10 |
77,829,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R8686:Pfkl
|
UTSW |
10 |
77,833,356 (GRCm39) |
critical splice donor site |
probably null |
|
R8900:Pfkl
|
UTSW |
10 |
77,836,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R9015:Pfkl
|
UTSW |
10 |
77,824,794 (GRCm39) |
missense |
probably damaging |
0.98 |
R9090:Pfkl
|
UTSW |
10 |
77,833,426 (GRCm39) |
missense |
probably benign |
0.28 |
R9257:Pfkl
|
UTSW |
10 |
77,825,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R9271:Pfkl
|
UTSW |
10 |
77,833,426 (GRCm39) |
missense |
probably benign |
0.28 |
R9415:Pfkl
|
UTSW |
10 |
77,824,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R9439:Pfkl
|
UTSW |
10 |
77,831,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R9486:Pfkl
|
UTSW |
10 |
77,824,184 (GRCm39) |
missense |
probably benign |
|
R9703:Pfkl
|
UTSW |
10 |
77,826,142 (GRCm39) |
critical splice acceptor site |
probably null |
|
X0026:Pfkl
|
UTSW |
10 |
77,825,477 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pfkl
|
UTSW |
10 |
77,835,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGACCTTATGACCTGCAGAC -3'
(R):5'- AGATTCTAGAGGCTTCTCCCC -3'
Sequencing Primer
(F):5'- TGACCTTATGACCTGCAGACTATAC -3'
(R):5'- CTCCCCTGTTTAATTCTGTGGGG -3'
|
Posted On |
2019-05-15 |