Incidental Mutation 'R6143:Pfkl'
ID |
488686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkl
|
Ensembl Gene |
ENSMUSG00000020277 |
Gene Name |
phosphofructokinase, liver, B-type |
Synonyms |
|
MMRRC Submission |
044290-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6143 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 77825447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 648
(R648W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
[ENSMUST00000105397]
[ENSMUST00000105398]
|
AlphaFold |
P12382 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020522
AA Change: R648W
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020522 Gene: ENSMUSG00000020277 AA Change: R648W
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: ENSMUST00000105397
|
SMART Domains |
Protein: ENSMUSP00000101036 Gene: ENSMUSG00000020284
Domain | Start | End | E-Value | Type |
LRRcap
|
104 |
122 |
3.42e-2 |
SMART |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
low complexity region
|
210 |
227 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105398
|
SMART Domains |
Protein: ENSMUSP00000101037 Gene: ENSMUSG00000020284
Domain | Start | End | E-Value | Type |
LRRcap
|
104 |
122 |
3.42e-2 |
SMART |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136275
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149074
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149271
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (62/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730061H03Rik |
A |
G |
14: 55,797,736 (GRCm39) |
|
probably benign |
Het |
Abcd2 |
A |
T |
15: 91,075,150 (GRCm39) |
V221E |
possibly damaging |
Het |
Arhgap39 |
T |
A |
15: 76,614,606 (GRCm39) |
K853* |
probably null |
Het |
Art2a |
T |
C |
7: 101,204,430 (GRCm39) |
D36G |
possibly damaging |
Het |
Atp13a1 |
C |
T |
8: 70,258,010 (GRCm39) |
P922S |
probably benign |
Het |
Brwd1 |
C |
T |
16: 95,804,156 (GRCm39) |
G2005R |
probably benign |
Het |
Bzw2 |
A |
T |
12: 36,170,725 (GRCm39) |
M133K |
probably benign |
Het |
Cacna1s |
T |
G |
1: 136,004,496 (GRCm39) |
S346A |
probably damaging |
Het |
Cebpb |
C |
A |
2: 167,531,220 (GRCm39) |
D93E |
probably benign |
Het |
Cep162 |
C |
A |
9: 87,094,904 (GRCm39) |
|
probably null |
Het |
Col9a2 |
A |
T |
4: 120,911,060 (GRCm39) |
Y565F |
probably damaging |
Het |
Csgalnact1 |
T |
A |
8: 68,826,202 (GRCm39) |
N372I |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,138,315 (GRCm39) |
D1579G |
probably damaging |
Het |
Cyfip2 |
A |
C |
11: 46,144,792 (GRCm39) |
Y687* |
probably null |
Het |
Cyp2d34 |
G |
A |
15: 82,504,977 (GRCm39) |
R28W |
probably benign |
Het |
Dbndd2 |
C |
A |
2: 164,330,206 (GRCm39) |
Q13K |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,233,377 (GRCm39) |
S245R |
probably benign |
Het |
Dnajb5 |
A |
T |
4: 42,956,990 (GRCm39) |
T226S |
probably damaging |
Het |
Dnmt1 |
T |
C |
9: 20,838,430 (GRCm39) |
E211G |
probably benign |
Het |
Dnpep |
G |
A |
1: 75,291,872 (GRCm39) |
H214Y |
probably damaging |
Het |
Drc3 |
G |
A |
11: 60,261,406 (GRCm39) |
V186M |
possibly damaging |
Het |
Dvl3 |
A |
G |
16: 20,345,789 (GRCm39) |
D413G |
possibly damaging |
Het |
Dyrk4 |
C |
T |
6: 126,863,614 (GRCm39) |
|
probably null |
Het |
Edc4 |
T |
A |
8: 106,612,506 (GRCm39) |
D181E |
probably damaging |
Het |
Enthd1 |
T |
C |
15: 80,393,487 (GRCm39) |
Y247C |
possibly damaging |
Het |
Gm5622 |
A |
T |
14: 51,892,372 (GRCm39) |
R50S |
possibly damaging |
Het |
Gpbp1 |
G |
A |
13: 111,603,389 (GRCm39) |
T20I |
probably damaging |
Het |
Hnrnpdl |
A |
T |
5: 100,184,410 (GRCm39) |
Y276* |
probably null |
Het |
Hsd3b7 |
A |
C |
7: 127,400,404 (GRCm39) |
E51A |
probably damaging |
Het |
Ighv5-16 |
G |
T |
12: 113,802,238 (GRCm39) |
F87L |
probably damaging |
Het |
Iqsec1 |
C |
T |
6: 90,786,666 (GRCm39) |
|
probably null |
Het |
Irgm2 |
A |
T |
11: 58,111,435 (GRCm39) |
E387D |
possibly damaging |
Het |
Klhl23 |
C |
A |
2: 69,664,040 (GRCm39) |
P463Q |
possibly damaging |
Het |
Mast4 |
A |
T |
13: 102,990,391 (GRCm39) |
N43K |
probably damaging |
Het |
Mme |
T |
G |
3: 63,207,532 (GRCm39) |
|
probably null |
Het |
Mrps31 |
T |
G |
8: 22,901,539 (GRCm39) |
S20A |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,157,091 (GRCm39) |
R176G |
probably damaging |
Het |
Naf1 |
T |
C |
8: 67,330,347 (GRCm39) |
V291A |
possibly damaging |
Het |
Nbeal1 |
A |
T |
1: 60,290,466 (GRCm39) |
H1021L |
possibly damaging |
Het |
Ncaph2 |
T |
C |
15: 89,248,206 (GRCm39) |
|
probably null |
Het |
Neurod4 |
T |
G |
10: 130,106,869 (GRCm39) |
Y135S |
probably damaging |
Het |
Nrp2 |
A |
T |
1: 62,799,974 (GRCm39) |
N396I |
probably damaging |
Het |
Nvl |
T |
G |
1: 180,962,560 (GRCm39) |
T137P |
probably benign |
Het |
Or5p59 |
A |
G |
7: 107,703,335 (GRCm39) |
D273G |
probably damaging |
Het |
Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
Pcdhgc4 |
T |
A |
18: 37,950,653 (GRCm39) |
S690T |
possibly damaging |
Het |
Pck1 |
A |
T |
2: 172,995,805 (GRCm39) |
D101V |
probably damaging |
Het |
Pdilt |
T |
A |
7: 119,094,265 (GRCm39) |
N329Y |
probably damaging |
Het |
Prtn3 |
T |
A |
10: 79,716,382 (GRCm39) |
I63N |
probably damaging |
Het |
Psg22 |
C |
T |
7: 18,456,723 (GRCm39) |
A163V |
probably benign |
Het |
Pten |
A |
G |
19: 32,777,485 (GRCm39) |
T160A |
possibly damaging |
Het |
Retreg2 |
A |
G |
1: 75,123,530 (GRCm39) |
D449G |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,317,868 (GRCm39) |
Y1531C |
probably benign |
Het |
Sgk2 |
T |
A |
2: 162,841,174 (GRCm39) |
C195S |
probably damaging |
Het |
Slc19a3 |
C |
T |
1: 83,004,060 (GRCm39) |
V14I |
probably benign |
Het |
Snai2 |
A |
T |
16: 14,526,107 (GRCm39) |
R253* |
probably null |
Het |
Speg |
G |
A |
1: 75,391,031 (GRCm39) |
V1512I |
probably damaging |
Het |
Srsf1 |
G |
A |
11: 87,940,425 (GRCm39) |
|
probably benign |
Het |
Tctn3 |
G |
T |
19: 40,597,671 (GRCm39) |
T190N |
probably benign |
Het |
Tmprss11f |
T |
A |
5: 86,687,558 (GRCm39) |
I117L |
probably benign |
Het |
Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
Vmn2r118 |
G |
T |
17: 55,899,871 (GRCm39) |
L678I |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,668,884 (GRCm39) |
S1594P |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,875,135 (GRCm39) |
H1791N |
possibly damaging |
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 |
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 |
R7116:Pfkl
|
UTSW |
10 |
77,837,249 (GRCm39) |
missense |
probably benign |
|
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'- TTCTCCAGACCATGCACGAAG -3'
(R):5'- CCTATGGGTGATGAGCAGAG -3'
Sequencing Primer
(F):5'- TGCACGAAGCCTCTCCC -3'
(R):5'- ACAGGACTGCGAGTTGCTG -3'
|
Posted On |
2017-10-10 |