Incidental Mutation 'R9486:Pfkl'
ID |
716596 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkl
|
Ensembl Gene |
ENSMUSG00000020277 |
Gene Name |
phosphofructokinase, liver, B-type |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9486 (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 A
at 77824184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 735
(M735L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
[ENSMUST00000105397]
[ENSMUST00000105398]
|
AlphaFold |
P12382 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020522
AA Change: M735L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020522 Gene: ENSMUSG00000020277 AA Change: M735L
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 |
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,546,942 (GRCm39) |
F396L |
probably damaging |
Het |
Abca13 |
T |
C |
11: 9,240,621 (GRCm39) |
I828T |
possibly damaging |
Het |
Ace3 |
A |
T |
11: 105,896,219 (GRCm39) |
T722S |
probably benign |
Het |
Acot2 |
A |
G |
12: 84,039,426 (GRCm39) |
T312A |
probably benign |
Het |
Adra2a |
A |
G |
19: 54,035,963 (GRCm39) |
I440V |
probably damaging |
Het |
Arhgap22 |
T |
A |
14: 33,073,303 (GRCm39) |
M4K |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
Bcl2 |
T |
A |
1: 106,471,109 (GRCm39) |
Y199F |
probably benign |
Het |
Brca1 |
A |
T |
11: 101,414,520 (GRCm39) |
C1205S |
probably benign |
Het |
Col7a1 |
T |
C |
9: 108,811,396 (GRCm39) |
V2743A |
unknown |
Het |
Crybg1 |
A |
G |
10: 43,880,145 (GRCm39) |
|
probably benign |
Het |
Cyp2c40 |
T |
A |
19: 39,755,808 (GRCm39) |
H502L |
probably benign |
Het |
Cyp2c40 |
A |
T |
19: 39,796,050 (GRCm39) |
Y109* |
probably null |
Het |
Cyp4a29 |
T |
C |
4: 115,106,916 (GRCm39) |
M191T |
probably damaging |
Het |
Dcaf1 |
A |
G |
9: 106,735,916 (GRCm39) |
R955G |
possibly damaging |
Het |
Dcaf4 |
G |
T |
12: 83,582,726 (GRCm39) |
A274S |
probably damaging |
Het |
Dlx1 |
A |
G |
2: 71,362,828 (GRCm39) |
H245R |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,508,494 (GRCm39) |
N1891D |
possibly damaging |
Het |
Dock10 |
A |
T |
1: 80,479,452 (GRCm39) |
V2167D |
unknown |
Het |
Epyc |
A |
G |
10: 97,511,697 (GRCm39) |
Q230R |
probably benign |
Het |
Etnk1 |
G |
A |
6: 143,130,310 (GRCm39) |
R143H |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,826,479 (GRCm39) |
D203G |
probably benign |
Het |
Fmo2 |
T |
C |
1: 162,708,292 (GRCm39) |
E281G |
probably damaging |
Het |
Gm2042 |
T |
A |
12: 87,925,963 (GRCm39) |
Y304N |
possibly damaging |
Het |
Hecw2 |
T |
C |
1: 53,852,466 (GRCm39) |
D1551G |
probably damaging |
Het |
Hgd |
A |
T |
16: 37,413,811 (GRCm39) |
D91V |
probably benign |
Het |
Hspa12a |
A |
G |
19: 58,797,891 (GRCm39) |
F276L |
probably benign |
Het |
Ifitm10 |
C |
T |
7: 141,909,812 (GRCm39) |
V95M |
probably damaging |
Het |
Ints3 |
G |
A |
3: 90,313,579 (GRCm39) |
R350* |
probably null |
Het |
Kdm4c |
T |
A |
4: 74,252,966 (GRCm39) |
I511K |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,492,348 (GRCm39) |
S264P |
probably damaging |
Het |
L1td1 |
A |
G |
4: 98,624,899 (GRCm39) |
T365A |
probably benign |
Het |
Ltbp2 |
T |
A |
12: 84,878,648 (GRCm39) |
T304S |
possibly damaging |
Het |
Mamdc4 |
T |
A |
2: 25,455,164 (GRCm39) |
Y962F |
probably benign |
Het |
Map3k4 |
C |
T |
17: 12,489,860 (GRCm39) |
A524T |
probably damaging |
Het |
Mfsd8 |
C |
T |
3: 40,789,627 (GRCm39) |
R140H |
probably damaging |
Het |
Mmp3 |
A |
G |
9: 7,451,256 (GRCm39) |
I331V |
possibly damaging |
Het |
Mpdz |
T |
A |
4: 81,254,043 (GRCm39) |
I1030F |
probably damaging |
Het |
Mtx1 |
A |
T |
3: 89,120,163 (GRCm39) |
C62S |
|
Het |
Muc20 |
A |
T |
16: 32,615,248 (GRCm39) |
V43E |
possibly damaging |
Het |
Naa25 |
A |
G |
5: 121,577,958 (GRCm39) |
E955G |
probably damaging |
Het |
Nelfcd |
A |
G |
2: 174,268,635 (GRCm39) |
Y562C |
probably damaging |
Het |
Nsd2 |
T |
A |
5: 34,018,493 (GRCm39) |
M509K |
probably benign |
Het |
Obscn |
T |
C |
11: 58,918,272 (GRCm39) |
T207A |
|
Het |
Or1ad1 |
T |
A |
11: 50,875,691 (GRCm39) |
H54Q |
possibly damaging |
Het |
Or4a39 |
C |
T |
2: 89,236,959 (GRCm39) |
V155M |
possibly damaging |
Het |
Or4k5 |
T |
A |
14: 50,385,672 (GRCm39) |
I220L |
probably benign |
Het |
Osbpl11 |
A |
T |
16: 33,006,283 (GRCm39) |
N37I |
possibly damaging |
Het |
Pcdh9 |
A |
G |
14: 93,797,956 (GRCm39) |
S1032P |
possibly damaging |
Het |
Pde6b |
T |
A |
5: 108,551,241 (GRCm39) |
I175N |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,138,722 (GRCm39) |
V324A |
probably benign |
Het |
Ptprb |
T |
A |
10: 116,155,494 (GRCm39) |
C462* |
probably null |
Het |
Rasal3 |
T |
C |
17: 32,617,910 (GRCm39) |
N221S |
probably benign |
Het |
Reep1 |
A |
T |
6: 71,684,969 (GRCm39) |
I6F |
probably benign |
Het |
Rhobtb1 |
T |
A |
10: 69,106,621 (GRCm39) |
F457L |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,777,965 (GRCm39) |
N2184S |
probably benign |
Het |
Scn11a |
T |
G |
9: 119,624,774 (GRCm39) |
H516P |
possibly damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,404,139 (GRCm39) |
|
probably null |
Het |
Slc17a7 |
A |
G |
7: 44,821,606 (GRCm39) |
N381S |
possibly damaging |
Het |
Slc38a3 |
C |
T |
9: 107,536,322 (GRCm39) |
V25M |
probably benign |
Het |
Spag1 |
T |
G |
15: 36,181,954 (GRCm39) |
D37E |
probably damaging |
Het |
Spib |
G |
T |
7: 44,178,815 (GRCm39) |
D114E |
possibly damaging |
Het |
Tpx2 |
A |
T |
2: 152,726,933 (GRCm39) |
Y400F |
probably damaging |
Het |
Trhde |
A |
G |
10: 114,532,014 (GRCm39) |
I362T |
possibly damaging |
Het |
Usp17ld |
C |
T |
7: 102,899,381 (GRCm39) |
G517E |
probably benign |
Het |
Vmn1r22 |
A |
T |
6: 57,877,404 (GRCm39) |
M191K |
probably damaging |
Het |
Wdr6 |
G |
A |
9: 108,453,182 (GRCm39) |
R234C |
probably damaging |
Het |
Zdhhc22 |
C |
T |
12: 87,030,398 (GRCm39) |
M183I |
probably benign |
Het |
Zfp1007 |
C |
A |
5: 109,824,062 (GRCm39) |
G463* |
probably null |
Het |
Zfp949 |
C |
A |
9: 88,452,182 (GRCm39) |
T584N |
probably benign |
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 |
|
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 |
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'- AGGCAATGTGGGTCTGACTG -3'
(R):5'- GACTCTTGCATCTGAGTCTACC -3'
Sequencing Primer
(F):5'- CTGGGATCTGTGGCTAGCAC -3'
(R):5'- GAGTCTACCTCAGAAGTACTTCC -3'
|
Posted On |
2022-07-18 |