Incidental Mutation 'R1264:Pfkl'
| ID |
151117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkl
|
| Ensembl Gene |
ENSMUSG00000020277 |
| Gene Name |
phosphofructokinase, liver, B-type |
| Synonyms |
|
| MMRRC Submission |
039331-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1264 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 77829250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 386
(K386T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
|
| AlphaFold |
P12382 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020522
AA Change: K386T
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
AA Change: K386T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
17 |
324 |
4.7e-109 |
PFAM |
|
Pfam:PFK
|
401 |
686 |
1.9e-98 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220064
|
| Meta Mutation Damage Score |
0.2084 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,592,103 (GRCm39) |
|
probably benign |
Het |
| Acadl |
A |
T |
1: 66,896,712 (GRCm39) |
C27S |
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,598,931 (GRCm39) |
G258E |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,299,962 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,791,233 (GRCm39) |
N21S |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,847,447 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,518,615 (GRCm39) |
|
probably benign |
Het |
| Clec10a |
T |
A |
11: 70,060,567 (GRCm39) |
S103T |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,339,662 (GRCm39) |
R770G |
probably benign |
Het |
| Cndp2 |
C |
A |
18: 84,696,916 (GRCm39) |
C95F |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
| Col4a3 |
A |
T |
1: 82,621,022 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,022,085 (GRCm39) |
|
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,953,484 (GRCm39) |
V18A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,439,491 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,221,675 (GRCm39) |
D715G |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,379 (GRCm39) |
K425E |
unknown |
Het |
| Kif13b |
T |
C |
14: 65,013,681 (GRCm39) |
|
probably benign |
Het |
| Msh2 |
T |
A |
17: 88,014,607 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,071,604 (GRCm39) |
N474D |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,978,185 (GRCm39) |
T1246A |
probably benign |
Het |
| Nob1 |
T |
C |
8: 108,148,136 (GRCm39) |
H102R |
probably damaging |
Het |
| Or4z4 |
G |
T |
19: 12,076,198 (GRCm39) |
D268E |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,203,316 (GRCm39) |
I415F |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,474,195 (GRCm39) |
V447A |
probably benign |
Het |
| Poli |
C |
T |
18: 70,650,574 (GRCm39) |
V266I |
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 71,861,449 (GRCm39) |
K46N |
possibly damaging |
Het |
| Shisa6 |
T |
C |
11: 66,265,975 (GRCm39) |
|
probably benign |
Het |
| Six3 |
T |
A |
17: 85,929,285 (GRCm39) |
D206E |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,060,158 (GRCm39) |
E944D |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,381 (GRCm39) |
F1173S |
probably damaging |
Het |
| Tfdp1 |
C |
A |
8: 13,423,837 (GRCm39) |
|
probably benign |
Het |
| Trrap |
A |
G |
5: 144,726,409 (GRCm39) |
|
probably benign |
Het |
| Wbp11 |
A |
G |
6: 136,791,513 (GRCm39) |
|
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 |
|
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'- TGCAGTCCTCAGTCCTCAGCTAAC -3'
(R):5'- AAGTCACTAAGCTCCCAGAGTCGC -3'
Sequencing Primer
(F):5'- TCAGCTAACACCTGAGGCAG -3'
(R):5'- TGTGCCGTTCTGACTGTTGA -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation