Incidental Mutation 'R0899:Pfkl'
| ID |
83800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkl
|
| Ensembl Gene |
ENSMUSG00000020277 |
| Gene Name |
phosphofructokinase, liver, B-type |
| Synonyms |
|
| MMRRC Submission |
039059-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0899 (G1)
|
| Quality Score |
152 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 77841273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
[ENSMUST00000020522]
[ENSMUST00000145716]
[ENSMUST00000145716]
[ENSMUST00000218383]
|
| AlphaFold |
P12382 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020522
|
| SMART Domains |
Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
| 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 null
Transcript: ENSMUST00000020522
|
| SMART Domains |
Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
| 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 null
Transcript: ENSMUST00000145716
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145716
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220304
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 93.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
T |
C |
15: 84,833,459 (GRCm39) |
K442E |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,594,940 (GRCm39) |
R340* |
probably null |
Het |
| Afg3l2 |
T |
C |
18: 67,556,047 (GRCm39) |
N428S |
possibly damaging |
Het |
| Aqp12 |
G |
A |
1: 92,934,332 (GRCm39) |
D70N |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,338,679 (GRCm39) |
C475* |
probably null |
Het |
| Atp2b1 |
G |
A |
10: 98,852,893 (GRCm39) |
|
probably null |
Het |
| Cbln2 |
T |
C |
18: 86,734,877 (GRCm39) |
S217P |
possibly damaging |
Het |
| Ces2h |
T |
C |
8: 105,741,182 (GRCm39) |
L58P |
probably damaging |
Het |
| Cfap43 |
C |
T |
19: 47,736,433 (GRCm39) |
G1353R |
possibly damaging |
Het |
| Crcp |
A |
G |
5: 130,088,672 (GRCm39) |
M91V |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,367,139 (GRCm39) |
V1577A |
possibly damaging |
Het |
| Dthd1 |
A |
G |
5: 63,000,271 (GRCm39) |
H531R |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam3d |
A |
G |
14: 8,364,863 (GRCm38) |
I16T |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,147,051 (GRCm39) |
G3982S |
probably damaging |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Fcnb |
T |
A |
2: 27,966,791 (GRCm39) |
K247N |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 88,976,152 (GRCm39) |
N5S |
|
Het |
| Htr3a |
T |
A |
9: 48,812,752 (GRCm39) |
D229V |
possibly damaging |
Het |
| Ipo11 |
A |
C |
13: 107,037,324 (GRCm39) |
L173* |
probably null |
Het |
| Jam3 |
C |
A |
9: 27,010,253 (GRCm39) |
G244W |
probably damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,737 (GRCm39) |
R112H |
probably benign |
Het |
| Mrpl52 |
C |
T |
14: 54,664,541 (GRCm39) |
R12* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,368,011 (GRCm39) |
Y257C |
possibly damaging |
Het |
| Myocd |
G |
A |
11: 65,086,018 (GRCm39) |
P215L |
possibly damaging |
Het |
| Ndst1 |
T |
C |
18: 60,840,954 (GRCm39) |
T243A |
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,492,800 (GRCm39) |
T252S |
probably benign |
Het |
| Or5m13b |
A |
G |
2: 85,753,731 (GRCm39) |
T40A |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,301 (GRCm39) |
F183L |
probably damaging |
Het |
| Or7g34 |
A |
C |
9: 19,477,843 (GRCm39) |
V276G |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,890,747 (GRCm39) |
S377G |
possibly damaging |
Het |
| Prdm16 |
A |
T |
4: 154,613,366 (GRCm39) |
N20K |
probably damaging |
Het |
| Prkd1 |
A |
G |
12: 50,431,976 (GRCm39) |
I589T |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,516,938 (GRCm39) |
G525S |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,718,329 (GRCm39) |
|
probably benign |
Het |
| Wap |
T |
C |
11: 6,586,725 (GRCm39) |
T125A |
probably benign |
Het |
| Wdr86 |
C |
T |
5: 24,923,005 (GRCm39) |
R229Q |
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 |
|
|
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 |
|
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'- CCCCAGACAACATCCATTCTGTGAG -3'
(R):5'- TTGCCATACATAGGGCAACAGAGC -3'
Sequencing Primer
(F):5'- AACATCCATTCTGTGAGTCCAG -3'
(R):5'- TAATGCCAGGCTCTGATTTCCAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation