Incidental Mutation 'R7154:Pfkl'
ID |
557156 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkl
|
Ensembl Gene |
ENSMUSG00000020277 |
Gene Name |
phosphofructokinase, liver, B-type |
Synonyms |
|
MMRRC Submission |
045256-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7154 (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 C
at 77837289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 95
(R95G)
|
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: R95G
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020522 Gene: ENSMUSG00000020277 AA Change: R95G
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: R66G
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218383
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (67/67) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
8030423J24Rik |
T |
C |
13: 71,032,344 (GRCm39) |
F139L |
unknown |
Het |
Adgre1 |
G |
A |
17: 57,751,087 (GRCm39) |
|
probably null |
Het |
Agap2 |
A |
G |
10: 126,927,524 (GRCm39) |
D1135G |
probably benign |
Het |
Akp3 |
T |
C |
1: 87,052,946 (GRCm39) |
L45P |
probably damaging |
Het |
Arfgap3 |
A |
T |
15: 83,220,905 (GRCm39) |
W71R |
probably damaging |
Het |
Asic3 |
G |
A |
5: 24,618,660 (GRCm39) |
|
probably benign |
Het |
Asph |
A |
T |
4: 9,630,930 (GRCm39) |
N139K |
possibly damaging |
Het |
Atr |
T |
A |
9: 95,747,098 (GRCm39) |
C127S |
probably benign |
Het |
Auts2 |
A |
T |
5: 131,480,731 (GRCm39) |
S255T |
|
Het |
Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
Cacnb1 |
A |
G |
11: 97,895,959 (GRCm39) |
L443P |
probably damaging |
Het |
Cbfa2t3 |
G |
A |
8: 123,364,883 (GRCm39) |
Q300* |
probably null |
Het |
Ccer1 |
A |
T |
10: 97,530,201 (GRCm39) |
D288V |
unknown |
Het |
Col18a1 |
G |
A |
10: 76,908,799 (GRCm39) |
P611S |
probably benign |
Het |
Cpa6 |
T |
A |
1: 10,407,694 (GRCm39) |
D281V |
possibly damaging |
Het |
Cyp2e1 |
A |
G |
7: 140,350,050 (GRCm39) |
Y245C |
probably damaging |
Het |
Cyp4a31 |
T |
C |
4: 115,431,963 (GRCm39) |
|
probably null |
Het |
Efcab3 |
T |
A |
11: 104,589,966 (GRCm39) |
|
probably null |
Het |
Entpd1 |
T |
C |
19: 40,713,430 (GRCm39) |
Y188H |
probably damaging |
Het |
Epb42 |
T |
C |
2: 120,863,843 (GRCm39) |
D111G |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,232,484 (GRCm39) |
D2064G |
probably damaging |
Het |
Fat3 |
A |
C |
9: 15,908,160 (GRCm39) |
V2614G |
probably damaging |
Het |
Fos |
A |
T |
12: 85,520,931 (GRCm39) |
M40L |
probably benign |
Het |
Frmd4b |
T |
A |
6: 97,283,707 (GRCm39) |
E434V |
probably damaging |
Het |
Galnt6 |
A |
T |
15: 100,591,345 (GRCm39) |
D586E |
probably benign |
Het |
Gapvd1 |
T |
C |
2: 34,615,075 (GRCm39) |
K474R |
probably damaging |
Het |
Gimap8 |
T |
A |
6: 48,633,122 (GRCm39) |
F314I |
probably damaging |
Het |
Gm14393 |
T |
G |
2: 174,903,576 (GRCm39) |
K110N |
probably damaging |
Het |
Gm4131 |
C |
A |
14: 62,718,382 (GRCm39) |
A75S |
probably damaging |
Het |
Heatr6 |
G |
A |
11: 83,668,067 (GRCm39) |
V854I |
probably benign |
Het |
Hic2 |
T |
A |
16: 17,076,806 (GRCm39) |
M545K |
possibly damaging |
Het |
Ift70b |
C |
T |
2: 75,768,405 (GRCm39) |
R116H |
possibly damaging |
Het |
Ip6k1 |
A |
G |
9: 107,922,861 (GRCm39) |
Y331C |
probably damaging |
Het |
Kalrn |
C |
T |
16: 34,032,527 (GRCm39) |
|
probably null |
Het |
Kxd1 |
T |
C |
8: 70,968,084 (GRCm39) |
K88E |
probably damaging |
Het |
Lrrc37a |
A |
C |
11: 103,393,682 (GRCm39) |
V581G |
probably benign |
Het |
Mex3d |
A |
T |
10: 80,222,584 (GRCm39) |
V224E |
|
Het |
Mtx2 |
T |
A |
2: 74,706,762 (GRCm39) |
C246S |
probably damaging |
Het |
Mybbp1a |
A |
G |
11: 72,338,468 (GRCm39) |
|
probably null |
Het |
Myh6 |
A |
G |
14: 55,197,764 (GRCm39) |
I458T |
probably benign |
Het |
Ndufs6 |
A |
G |
13: 73,468,411 (GRCm39) |
V96A |
possibly damaging |
Het |
Nemf |
A |
T |
12: 69,363,515 (GRCm39) |
|
probably null |
Het |
Notch1 |
T |
C |
2: 26,349,950 (GRCm39) |
S2397G |
probably benign |
Het |
Or4c15b |
A |
G |
2: 89,113,204 (GRCm39) |
I91T |
probably damaging |
Het |
Or6ae1 |
T |
C |
7: 139,741,997 (GRCm39) |
I289V |
probably benign |
Het |
Osbpl1a |
T |
C |
18: 12,901,649 (GRCm39) |
E619G |
probably benign |
Het |
Plat |
T |
A |
8: 23,268,521 (GRCm39) |
I391K |
possibly damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,862,314 (GRCm39) |
H244R |
probably damaging |
Het |
Rapgef3 |
G |
C |
15: 97,651,758 (GRCm39) |
H578Q |
probably benign |
Het |
Rnf145 |
C |
A |
11: 44,415,822 (GRCm39) |
N12K |
probably damaging |
Het |
Sfxn5 |
C |
T |
6: 85,309,405 (GRCm39) |
C100Y |
unknown |
Het |
Sh3rf1 |
T |
A |
8: 61,825,748 (GRCm39) |
L581Q |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,195,078 (GRCm39) |
K887E |
probably benign |
Het |
Spopfm2 |
A |
G |
3: 94,083,526 (GRCm39) |
I95T |
probably benign |
Het |
Stard9 |
C |
A |
2: 120,531,795 (GRCm39) |
T2684N |
probably benign |
Het |
Stard9 |
A |
C |
2: 120,535,023 (GRCm39) |
Q3760P |
probably benign |
Het |
Stpg2 |
A |
G |
3: 138,921,056 (GRCm39) |
E87G |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,106,231 (GRCm39) |
Q792R |
possibly damaging |
Het |
Taf7 |
T |
C |
18: 37,775,601 (GRCm39) |
D322G |
possibly damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,331,156 (GRCm39) |
S112G |
possibly damaging |
Het |
Tbx3 |
A |
G |
5: 119,810,093 (GRCm39) |
M5V |
possibly damaging |
Het |
Tmem45b |
A |
T |
9: 31,339,328 (GRCm39) |
I215N |
possibly damaging |
Het |
Tpd52 |
G |
A |
3: 9,028,916 (GRCm39) |
Q43* |
probably null |
Het |
Trpa1 |
T |
A |
1: 14,952,457 (GRCm39) |
N858I |
possibly damaging |
Het |
Ttll5 |
A |
G |
12: 85,972,538 (GRCm39) |
D767G |
probably damaging |
Het |
Vmn2r3 |
G |
A |
3: 64,194,732 (GRCm39) |
T62I |
probably benign |
Het |
Wdr59 |
A |
T |
8: 112,185,367 (GRCm39) |
N874K |
|
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 |
R7116:Pfkl
|
UTSW |
10 |
77,837,249 (GRCm39) |
missense |
probably benign |
|
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'- TGCTGACCTTATGACCTGCAG -3'
(R):5'- AGATTCTAGAGGCTTCTCCCC -3'
Sequencing Primer
(F):5'- TGACCTTATGACCTGCAGACTATAC -3'
(R):5'- CTCCCCTGTTTAATTCTGTGGGG -3'
|
Posted On |
2019-06-26 |