Incidental Mutation 'R4559:Pfkl'
| ID |
342998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkl
|
| Ensembl Gene |
ENSMUSG00000020277 |
| Gene Name |
phosphofructokinase, liver, B-type |
| Synonyms |
|
| MMRRC Submission |
041785-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 77824717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 691
(R691S)
|
| 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: R691S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
AA Change: R691S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123999
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149074
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149271
|
| Meta Mutation Damage Score |
0.0811 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
| 1700066M21Rik |
T |
C |
1: 57,422,083 (GRCm39) |
F153S |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,480,405 (GRCm39) |
V222A |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,322,321 (GRCm39) |
I398V |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 68,004,584 (GRCm39) |
C2312S |
probably damaging |
Het |
| Cidea |
C |
T |
18: 67,493,298 (GRCm39) |
Q106* |
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,054,892 (GRCm39) |
T159A |
probably damaging |
Het |
| Cyp2j12 |
G |
T |
4: 96,001,194 (GRCm39) |
S304R |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,124,785 (GRCm39) |
F665L |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,603,978 (GRCm39) |
V815E |
probably damaging |
Het |
| Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,510,213 (GRCm39) |
M737T |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,193,634 (GRCm39) |
D1395V |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,209,146 (GRCm39) |
M1076I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,593 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,929,148 (GRCm39) |
R3851G |
probably damaging |
Het |
| Frem2 |
C |
T |
3: 53,561,742 (GRCm39) |
V922I |
probably benign |
Het |
| Gm10719 |
A |
T |
9: 3,018,945 (GRCm39) |
T200S |
probably benign |
Het |
| Grin3a |
T |
C |
4: 49,844,555 (GRCm39) |
D176G |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,089,928 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,309,741 (GRCm39) |
H1090Q |
probably damaging |
Het |
| Il20ra |
A |
G |
10: 19,625,032 (GRCm39) |
T104A |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,502,460 (GRCm39) |
D93G |
possibly damaging |
Het |
| Ing1 |
A |
G |
8: 11,612,090 (GRCm39) |
K176R |
probably benign |
Het |
| Jph1 |
A |
T |
1: 17,074,735 (GRCm39) |
C428S |
probably benign |
Het |
| Kif13b |
G |
T |
14: 65,043,581 (GRCm39) |
G1794W |
probably damaging |
Het |
| Map10 |
A |
G |
8: 126,398,553 (GRCm39) |
T649A |
probably benign |
Het |
| Med12l |
T |
C |
3: 58,914,523 (GRCm39) |
|
probably null |
Het |
| Nat8f1 |
A |
G |
6: 85,887,567 (GRCm39) |
I131T |
probably benign |
Het |
| Oas1d |
C |
A |
5: 121,054,958 (GRCm39) |
Q177K |
probably benign |
Het |
| Or4a74 |
C |
A |
2: 89,440,043 (GRCm39) |
M134I |
probably damaging |
Het |
| Or51q1 |
G |
A |
7: 103,628,767 (GRCm39) |
D123N |
probably damaging |
Het |
| P2ry2 |
A |
G |
7: 100,647,363 (GRCm39) |
V314A |
possibly damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,490,175 (GRCm39) |
I1005N |
probably damaging |
Het |
| Prkacb |
A |
G |
3: 146,451,147 (GRCm39) |
|
probably benign |
Het |
| Ptprm |
A |
T |
17: 66,990,403 (GRCm39) |
Y1412N |
possibly damaging |
Het |
| Rab22a |
A |
G |
2: 173,503,226 (GRCm39) |
D13G |
probably damaging |
Het |
| Rab29 |
G |
A |
1: 131,800,305 (GRCm39) |
W201* |
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
| Rassf10 |
A |
G |
7: 112,554,338 (GRCm39) |
E313G |
probably benign |
Het |
| Sf1 |
GGCAGCAGCAGCAGCAGCAGC |
GGCAGCAGCAGCAGCAGC |
19: 6,424,845 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,031,678 (GRCm39) |
L468Q |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,062,695 (GRCm39) |
K254* |
probably null |
Het |
| Slc6a12 |
G |
A |
6: 121,340,820 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,895,570 (GRCm39) |
L412P |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,583 (GRCm39) |
S469P |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,592,664 (GRCm39) |
E272G |
probably damaging |
Het |
| Tlr12 |
C |
A |
4: 128,509,563 (GRCm39) |
G896W |
probably damaging |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,749,890 (GRCm39) |
H3720Y |
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 |
|
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'- CTTTCTTGAGTTCTGTGACCGGAC -3'
(R):5'- TGCTTGCAAGGATACACGGAG -3'
Sequencing Primer
(F):5'- AGTTCTGTGACCGGACTGAAG -3'
(R):5'- TACACGGAGACATGGTTCATG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation