Incidental Mutation 'R9703:Pfkl'
| ID |
729669 |
| 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 # |
R9703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 77826142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
[ENSMUST00000105397]
[ENSMUST00000105398]
|
| 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 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: 99.3%
- 20x: 98.2%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
A |
8: 41,248,971 (GRCm39) |
N360K |
probably damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,909,629 (GRCm39) |
T625A |
probably benign |
Het |
| Apob |
T |
A |
12: 8,030,507 (GRCm39) |
L82Q |
probably damaging |
Het |
| Arhgap30 |
T |
G |
1: 171,235,339 (GRCm39) |
L571R |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,162,431 (GRCm39) |
C493Y |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 85,952,830 (GRCm39) |
T984A |
possibly damaging |
Het |
| Btbd9 |
A |
G |
17: 30,749,200 (GRCm39) |
V38A |
possibly damaging |
Het |
| Crocc2 |
C |
A |
1: 93,130,444 (GRCm39) |
D908E |
probably benign |
Het |
| Crybg3 |
C |
G |
16: 59,375,939 (GRCm39) |
A58P |
probably damaging |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Ddx46 |
A |
G |
13: 55,824,635 (GRCm39) |
Y962C |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,517,540 (GRCm39) |
R1373C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,781,989 (GRCm39) |
*2043R |
probably null |
Het |
| Efs |
A |
T |
14: 55,156,871 (GRCm39) |
V388E |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,354,796 (GRCm39) |
|
probably null |
Het |
| Extl3 |
G |
T |
14: 65,292,103 (GRCm39) |
R907S |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,806,400 (GRCm39) |
V2123M |
probably damaging |
Het |
| Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
| Golm1 |
A |
T |
13: 59,797,433 (GRCm39) |
D137E |
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,124,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| H2ac19 |
G |
A |
3: 96,147,557 (GRCm39) |
R4C |
probably benign |
Het |
| Hrh1 |
G |
A |
6: 114,457,979 (GRCm39) |
C420Y |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,459,063 (GRCm39) |
L316Q |
probably damaging |
Het |
| Iws1 |
T |
A |
18: 32,212,738 (GRCm39) |
D55E |
probably damaging |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Klrc2 |
G |
C |
6: 129,633,407 (GRCm39) |
S215* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,425,535 (GRCm39) |
T4727A |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,131,228 (GRCm39) |
S198P |
probably benign |
Het |
| Or2n1b |
A |
T |
17: 38,459,856 (GRCm39) |
I126F |
possibly damaging |
Het |
| Or6c214 |
A |
T |
10: 129,591,286 (GRCm39) |
I11N |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,383,777 (GRCm39) |
I523F |
probably damaging |
Het |
| Pals1 |
T |
A |
12: 78,843,850 (GRCm39) |
I18K |
probably benign |
Het |
| Pcdhb1 |
T |
A |
18: 37,399,019 (GRCm39) |
D323E |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,176 (GRCm39) |
F53I |
probably benign |
Het |
| Pramel29 |
T |
A |
4: 143,939,510 (GRCm39) |
D9V |
probably damaging |
Het |
| Prph2 |
G |
A |
17: 47,234,447 (GRCm39) |
A339T |
unknown |
Het |
| Prrc2a |
T |
C |
17: 35,378,320 (GRCm39) |
K452E |
unknown |
Het |
| Rab36 |
T |
C |
10: 74,886,474 (GRCm39) |
W151R |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,100,283 (GRCm39) |
T1438A |
possibly damaging |
Het |
| Slc25a17 |
A |
T |
15: 81,224,193 (GRCm39) |
I55K |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,739,744 (GRCm39) |
I3401N |
possibly damaging |
Het |
| Smpd3 |
T |
A |
8: 106,991,713 (GRCm39) |
H280L |
probably damaging |
Het |
| Srsf10 |
A |
G |
4: 135,591,153 (GRCm39) |
H202R |
probably benign |
Het |
| Swap70 |
C |
T |
7: 109,872,512 (GRCm39) |
R376C |
probably damaging |
Het |
| Syde1 |
G |
T |
10: 78,421,557 (GRCm39) |
L665M |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,761,863 (GRCm39) |
V126A |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,293,938 (GRCm39) |
H230R |
probably damaging |
Het |
| Tnc |
G |
A |
4: 63,889,412 (GRCm39) |
A1698V |
probably benign |
Het |
| Twist2 |
C |
A |
1: 91,729,744 (GRCm39) |
S132R |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,732,092 (GRCm39) |
C1170Y |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably 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 |
|
|
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 |
|
|
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'- GCTCACCTTTAAGTCATGGATGTTG -3'
(R):5'- CTTGGTACTGGACGCAATTGC -3'
Sequencing Primer
(F):5'- CATGGATGTTGAAAGGGTCCTC -3'
(R):5'- AGATCCTTTGTAGCAATGTCCG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation