Incidental Mutation 'R0743:Pfkl'
| ID |
70788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkl
|
| Ensembl Gene |
ENSMUSG00000020277 |
| Gene Name |
phosphofructokinase, liver, B-type |
| Synonyms |
|
| MMRRC Submission |
038924-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 77831077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
[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 |
noncoding transcript
Transcript: ENSMUST00000148818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220064
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,790,700 (GRCm39) |
I844N |
possibly damaging |
Het |
| Bend7 |
A |
T |
2: 4,749,055 (GRCm39) |
K57N |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,155,996 (GRCm39) |
F76L |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,007,469 (GRCm39) |
T149S |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,156,552 (GRCm39) |
L66P |
probably damaging |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,854 (GRCm39) |
V170A |
possibly damaging |
Het |
| Dnm2 |
T |
A |
9: 21,411,561 (GRCm39) |
Y597N |
probably damaging |
Het |
| Epsti1 |
A |
T |
14: 78,168,715 (GRCm39) |
R117S |
probably damaging |
Het |
| Gabarapl2 |
A |
T |
8: 112,669,137 (GRCm39) |
I32F |
probably damaging |
Het |
| Glrb |
T |
A |
3: 80,786,987 (GRCm39) |
I59F |
probably damaging |
Het |
| Gosr1 |
A |
G |
11: 76,620,972 (GRCm39) |
I239T |
probably benign |
Het |
| Kif5b |
G |
T |
18: 6,209,192 (GRCm39) |
R857S |
probably damaging |
Het |
| Kmt5a |
C |
A |
5: 124,585,282 (GRCm39) |
N44K |
probably damaging |
Het |
| Ksr1 |
A |
T |
11: 78,912,329 (GRCm39) |
H675Q |
possibly damaging |
Het |
| Mep1b |
A |
G |
18: 21,213,515 (GRCm39) |
D68G |
possibly damaging |
Het |
| Nebl |
A |
C |
2: 17,415,929 (GRCm39) |
S327A |
probably benign |
Het |
| Nfat5 |
G |
A |
8: 108,094,698 (GRCm39) |
E962K |
probably damaging |
Het |
| Nfatc4 |
A |
C |
14: 56,064,101 (GRCm39) |
D126A |
probably damaging |
Het |
| Nmt2 |
A |
T |
2: 3,315,822 (GRCm39) |
R271* |
probably null |
Het |
| Nol7 |
G |
A |
13: 43,554,091 (GRCm39) |
V133I |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,096,884 (GRCm39) |
|
probably benign |
Het |
| Nphp3 |
GCATCATCATCATCATC |
GCATCATCATCATC |
9: 103,899,967 (GRCm39) |
|
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,265,715 (GRCm39) |
I47F |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,156,069 (GRCm39) |
W28* |
probably null |
Het |
| Or6c66 |
T |
A |
10: 129,461,712 (GRCm39) |
T73S |
probably benign |
Het |
| Or8h10 |
G |
A |
2: 86,808,843 (GRCm39) |
T99I |
probably benign |
Het |
| Ovgp1 |
T |
A |
3: 105,882,248 (GRCm39) |
L37H |
probably damaging |
Het |
| Padi3 |
G |
T |
4: 140,513,740 (GRCm39) |
A646D |
probably benign |
Het |
| Pamr1 |
A |
G |
2: 102,440,252 (GRCm39) |
E142G |
probably damaging |
Het |
| Papolg |
A |
T |
11: 23,820,818 (GRCm39) |
|
probably null |
Het |
| Pate8 |
T |
C |
9: 36,492,597 (GRCm39) |
S103G |
probably benign |
Het |
| Plrg1 |
T |
C |
3: 82,967,224 (GRCm39) |
S132P |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,425,134 (GRCm39) |
I103N |
probably damaging |
Het |
| Prr14l |
C |
A |
5: 32,988,538 (GRCm39) |
C319F |
possibly damaging |
Het |
| Prtn3 |
T |
A |
10: 79,715,511 (GRCm39) |
M1K |
probably null |
Het |
| Ptpn22 |
T |
C |
3: 103,809,487 (GRCm39) |
F700S |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,044,366 (GRCm39) |
Q1273* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,569,415 (GRCm39) |
D4963G |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,309,734 (GRCm39) |
L2091F |
possibly damaging |
Het |
| Senp6 |
C |
T |
9: 80,000,871 (GRCm39) |
R27C |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,814,906 (GRCm39) |
M191L |
probably benign |
Het |
| Sirt4 |
T |
C |
5: 115,621,014 (GRCm39) |
K53E |
probably benign |
Het |
| Slc10a2 |
A |
G |
8: 5,139,132 (GRCm39) |
S271P |
probably damaging |
Het |
| Slc35b2 |
T |
A |
17: 45,877,751 (GRCm39) |
F293I |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,031,469 (GRCm39) |
V103M |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,723,759 (GRCm39) |
I1479F |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,355 (GRCm39) |
V987A |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,768 (GRCm39) |
I262V |
probably damaging |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Tmem39a |
A |
T |
16: 38,405,764 (GRCm39) |
I200F |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,613 (GRCm39) |
T23760M |
probably damaging |
Het |
| Uqcrc1 |
C |
T |
9: 108,773,773 (GRCm39) |
Q22* |
probably null |
Het |
| Wdtc1 |
A |
G |
4: 133,027,972 (GRCm39) |
W377R |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,764,764 (GRCm39) |
S223P |
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 |
|
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 |
|
|
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'- AGCCCCTGATAACACTTGTCCTACC -3'
(R):5'- GCTGCCCTCTCTCCTGAACAGA -3'
Sequencing Primer
(F):5'- acaccaaaagagggcatcag -3'
(R):5'- CTCTCCTGAACAGAGTAGCAAGATG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation