Incidental Mutation 'R6704:Pfkl'
ID |
528865 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkl
|
Ensembl Gene |
ENSMUSG00000020277 |
Gene Name |
phosphofructokinase, liver, B-type |
Synonyms |
|
MMRRC Submission |
044822-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6704 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 77832200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 297
(G297D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
[ENSMUST00000145716]
[ENSMUST00000218383]
|
AlphaFold |
P12382 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020522
AA Change: G297D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020522 Gene: ENSMUSG00000020277 AA Change: G297D
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148818
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149271
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218383
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218921
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220064
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
T |
C |
12: 8,060,379 (GRCm39) |
S2921P |
probably damaging |
Het |
Asxl3 |
G |
A |
18: 22,650,362 (GRCm39) |
A784T |
probably benign |
Het |
Atm |
T |
C |
9: 53,370,153 (GRCm39) |
I2320V |
probably benign |
Het |
Ccdc152 |
T |
A |
15: 3,310,195 (GRCm39) |
I227F |
probably damaging |
Het |
Cd109 |
T |
C |
9: 78,587,357 (GRCm39) |
V675A |
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,386,892 (GRCm39) |
Y235H |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,889,652 (GRCm39) |
D705G |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ermn |
T |
C |
2: 57,938,046 (GRCm39) |
D189G |
possibly damaging |
Het |
Evx2 |
C |
A |
2: 74,486,499 (GRCm39) |
A297S |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,477,410 (GRCm39) |
F2152S |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 7,990,642 (GRCm39) |
V1018A |
unknown |
Het |
Hyou1 |
T |
C |
9: 44,292,431 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
G |
A |
14: 24,052,882 (GRCm39) |
Q187* |
probably null |
Het |
Macf1 |
C |
T |
4: 123,304,555 (GRCm39) |
|
probably benign |
Het |
Mcam |
T |
A |
9: 44,048,217 (GRCm39) |
D124E |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,986,761 (GRCm39) |
|
probably benign |
Het |
Mlxipl |
A |
T |
5: 135,166,094 (GRCm39) |
|
probably null |
Het |
Myt1 |
A |
G |
2: 181,453,005 (GRCm39) |
M1V |
probably null |
Het |
Nlrc3 |
C |
T |
16: 3,782,945 (GRCm39) |
V155I |
probably damaging |
Het |
Nlrp2 |
A |
C |
7: 5,328,040 (GRCm39) |
L671* |
probably null |
Het |
Omd |
A |
G |
13: 49,743,349 (GRCm39) |
D133G |
probably damaging |
Het |
Or5h19 |
T |
C |
16: 58,856,225 (GRCm39) |
R292G |
probably damaging |
Het |
Or9r7 |
T |
A |
10: 129,962,024 (GRCm39) |
K301* |
probably null |
Het |
Pappa |
G |
A |
4: 65,123,161 (GRCm39) |
C832Y |
probably damaging |
Het |
Pcnx3 |
A |
T |
19: 5,736,515 (GRCm39) |
V174E |
possibly damaging |
Het |
Polr3a |
A |
G |
14: 24,511,910 (GRCm39) |
L882P |
probably damaging |
Het |
Ptchd4 |
A |
G |
17: 42,627,931 (GRCm39) |
T131A |
probably benign |
Het |
Rad50 |
T |
C |
11: 53,589,745 (GRCm39) |
N152S |
probably damaging |
Het |
Ruvbl1 |
T |
A |
6: 88,456,187 (GRCm39) |
M147K |
probably benign |
Het |
Septin4 |
T |
A |
11: 87,479,856 (GRCm39) |
I277N |
probably damaging |
Het |
Serpini1 |
T |
C |
3: 75,545,255 (GRCm39) |
V337A |
probably damaging |
Het |
Tmem131 |
A |
G |
1: 36,835,261 (GRCm39) |
V1620A |
possibly damaging |
Het |
Tpr |
A |
G |
1: 150,282,259 (GRCm39) |
E248G |
possibly damaging |
Het |
Ugt2b36 |
C |
A |
5: 87,239,990 (GRCm39) |
V132F |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,621,035 (GRCm39) |
E212G |
probably damaging |
Het |
Zc2hc1c |
A |
T |
12: 85,337,258 (GRCm39) |
Q305L |
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 |
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 |
|
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'- GTATATACAGGGGTCAAGCCAGC -3'
(R):5'- TGACCCGCACATATCACGTG -3'
Sequencing Primer
(F):5'- AGCCCAGTTCCTCAGTACATG -3'
(R):5'- ATAGTGTGGCTTATTTCTCAGGC -3'
|
Posted On |
2018-07-24 |