Incidental Mutation 'R6407:Pfkl'
| ID |
514502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkl
|
| Ensembl Gene |
ENSMUSG00000020277 |
| Gene Name |
phosphofructokinase, liver, B-type |
| Synonyms |
|
| MMRRC Submission |
044552-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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 77824507 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 |
|
| 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 |
0.9597 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
T |
C |
18: 65,422,809 (GRCm39) |
Y1963C |
probably benign |
Het |
| Bptf |
T |
A |
11: 107,001,952 (GRCm39) |
N387Y |
probably damaging |
Het |
| C1ql2 |
T |
C |
1: 120,269,340 (GRCm39) |
L165P |
probably damaging |
Het |
| Col5a2 |
C |
A |
1: 45,415,938 (GRCm39) |
C1403F |
probably damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Htr3a |
G |
T |
9: 48,812,355 (GRCm39) |
Y250* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,252,271 (GRCm39) |
K94E |
unknown |
Het |
| Ighg3 |
T |
C |
12: 113,323,770 (GRCm39) |
N206S |
unknown |
Het |
| Il36rn |
A |
G |
2: 24,171,365 (GRCm39) |
Y151C |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,375 (GRCm39) |
R312C |
probably damaging |
Het |
| Lap3 |
T |
A |
5: 45,669,267 (GRCm39) |
V472E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,234,772 (GRCm39) |
T762A |
probably benign |
Het |
| Mfsd12 |
T |
C |
10: 81,198,067 (GRCm39) |
|
probably null |
Het |
| Mrpl39 |
T |
C |
16: 84,529,273 (GRCm39) |
K123R |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,220,394 (GRCm39) |
T113S |
possibly damaging |
Het |
| Nhp2 |
T |
C |
11: 51,510,730 (GRCm39) |
V29A |
probably benign |
Het |
| Or14a260 |
T |
C |
7: 85,985,277 (GRCm39) |
E109G |
possibly damaging |
Het |
| Pex3 |
T |
C |
10: 13,422,112 (GRCm39) |
R63G |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,315,724 (GRCm39) |
S617P |
probably damaging |
Het |
| Rnf223 |
A |
T |
4: 156,216,816 (GRCm39) |
T64S |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,872,181 (GRCm39) |
V432M |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,742,528 (GRCm39) |
V100A |
probably benign |
Het |
| Slc17a7 |
C |
T |
7: 44,819,350 (GRCm39) |
A167V |
probably benign |
Het |
| Slc38a6 |
T |
C |
12: 73,356,949 (GRCm39) |
F115S |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,129,645 (GRCm39) |
S1122P |
probably benign |
Het |
| Spdye4a |
T |
C |
5: 143,211,454 (GRCm39) |
T37A |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,362,024 (GRCm39) |
T138A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,272,356 (GRCm39) |
|
probably null |
Het |
| Tmem212 |
A |
G |
3: 27,938,988 (GRCm39) |
V166A |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,084,952 (GRCm39) |
L317P |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,722,467 (GRCm39) |
T38S |
probably benign |
Het |
| Tshz1 |
C |
A |
18: 84,034,091 (GRCm39) |
V106F |
possibly damaging |
Het |
| Tut4 |
G |
T |
4: 108,415,979 (GRCm39) |
E1648D |
probably damaging |
Het |
| Yap1 |
A |
G |
9: 7,962,373 (GRCm39) |
M225T |
possibly damaging |
Het |
| Zfp74 |
T |
C |
7: 29,635,048 (GRCm39) |
E220G |
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 |
|
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'- GGGAAGTACTTCTGAGGTAGAC -3'
(R):5'- GGTGTCTGAGAAGCTACGTG -3'
Sequencing Primer
(F):5'- TAGACTCAGATGCAAGAGTCAC -3'
(R):5'- AAGCTACGTGATGTCTACCG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation