Incidental Mutation 'IGL03342:Pfkl'
| ID |
417288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pfkl
|
| Ensembl Gene |
ENSMUSG00000020277 |
| Gene Name |
phosphofructokinase, liver, B-type |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03342
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77841309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 13
(I13K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
[ENSMUST00000145716]
[ENSMUST00000218383]
|
| AlphaFold |
P12382 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020522
AA Change: I42K
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
AA Change: I42K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
17 |
324 |
4.7e-109 |
PFAM |
|
Pfam:PFK
|
401 |
686 |
1.9e-98 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145716
AA Change: I13K
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220304
|
| Coding Region Coverage |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,178,517 (GRCm39) |
T1152M |
possibly damaging |
Het |
| Abcg2 |
G |
T |
6: 58,642,120 (GRCm39) |
R136I |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,924,310 (GRCm39) |
V641A |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,540,390 (GRCm39) |
D706E |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,947,621 (GRCm39) |
L311Q |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,342,690 (GRCm39) |
|
probably null |
Het |
| Car2 |
A |
T |
3: 14,960,629 (GRCm39) |
D129V |
probably benign |
Het |
| Catsper2 |
T |
C |
2: 121,237,217 (GRCm39) |
I228V |
probably damaging |
Het |
| Cdhr3 |
C |
A |
12: 33,101,054 (GRCm39) |
R452M |
probably benign |
Het |
| Chrm1 |
A |
T |
19: 8,656,672 (GRCm39) |
Q459L |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 19,098,264 (GRCm39) |
|
probably benign |
Het |
| Coa7 |
A |
G |
4: 108,189,426 (GRCm39) |
D42G |
probably damaging |
Het |
| Ctsz |
T |
C |
2: 174,270,933 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,639,472 (GRCm39) |
Q165* |
probably null |
Het |
| Cyp3a11 |
G |
A |
5: 145,791,927 (GRCm39) |
P489S |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,916,910 (GRCm39) |
I276F |
probably damaging |
Het |
| Dsg1b |
T |
A |
18: 20,542,517 (GRCm39) |
M1008K |
probably benign |
Het |
| Dsg4 |
T |
A |
18: 20,584,880 (GRCm39) |
I198N |
probably damaging |
Het |
| Dtymk |
C |
A |
1: 93,722,541 (GRCm39) |
E87D |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,167,854 (GRCm39) |
D1749E |
probably benign |
Het |
| Dzip3 |
G |
T |
16: 48,749,986 (GRCm39) |
Q1050K |
probably damaging |
Het |
| Echs1 |
C |
T |
7: 139,690,026 (GRCm39) |
|
probably benign |
Het |
| Enc1 |
T |
A |
13: 97,382,978 (GRCm39) |
I496N |
possibly damaging |
Het |
| Epc2 |
A |
T |
2: 49,426,658 (GRCm39) |
Y139F |
probably benign |
Het |
| Exo1 |
A |
T |
1: 175,719,693 (GRCm39) |
N246I |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,108,542 (GRCm39) |
K190R |
probably damaging |
Het |
| Gm5424 |
A |
T |
10: 61,907,971 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbp1l1 |
A |
C |
4: 116,431,740 (GRCm39) |
T133P |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,180,022 (GRCm39) |
F146S |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,955,715 (GRCm39) |
I190L |
probably benign |
Het |
| Hif3a |
C |
T |
7: 16,775,047 (GRCm39) |
R515H |
possibly damaging |
Het |
| Itprid2 |
G |
A |
2: 79,490,796 (GRCm39) |
M971I |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,530,314 (GRCm39) |
D442N |
probably benign |
Het |
| Manba |
A |
T |
3: 135,223,748 (GRCm39) |
I212F |
possibly damaging |
Het |
| Map3k13 |
A |
G |
16: 21,710,981 (GRCm39) |
E88G |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,382,216 (GRCm39) |
L163P |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,080,006 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
A |
14: 79,653,312 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
A |
G |
14: 79,653,420 (GRCm39) |
D365G |
possibly damaging |
Het |
| Mtrf1 |
C |
T |
14: 79,653,311 (GRCm39) |
|
probably benign |
Het |
| Myadm |
C |
T |
7: 3,345,403 (GRCm39) |
T55I |
possibly damaging |
Het |
| Nlgn1 |
A |
T |
3: 26,187,411 (GRCm39) |
I158N |
probably damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,752,313 (GRCm39) |
L690P |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,013,617 (GRCm39) |
D544E |
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,320,482 (GRCm39) |
L20Q |
probably damaging |
Het |
| Or1e30 |
T |
A |
11: 73,678,309 (GRCm39) |
S182T |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,579 (GRCm39) |
I17N |
possibly damaging |
Het |
| Or9i16 |
A |
G |
19: 13,864,801 (GRCm39) |
Y258H |
probably damaging |
Het |
| Padi3 |
G |
A |
4: 140,537,909 (GRCm39) |
Q4* |
probably null |
Het |
| Pinx1 |
A |
G |
14: 64,157,018 (GRCm39) |
D315G |
probably benign |
Het |
| Prickle3 |
A |
G |
X: 7,529,735 (GRCm39) |
D47G |
probably benign |
Het |
| Psmd10 |
A |
T |
X: 139,857,403 (GRCm39) |
V5E |
probably damaging |
Het |
| Rasgrf2 |
C |
A |
13: 92,136,098 (GRCm39) |
V605F |
probably damaging |
Het |
| Smarca1 |
G |
T |
X: 46,981,146 (GRCm39) |
A84D |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,852,588 (GRCm39) |
V112A |
probably damaging |
Het |
| Srgap3 |
G |
A |
6: 112,752,648 (GRCm39) |
R279C |
probably damaging |
Het |
| Trav21-dv12 |
T |
C |
14: 54,113,501 (GRCm39) |
L10P |
unknown |
Het |
| Vmn1r236 |
A |
T |
17: 21,507,236 (GRCm39) |
H118L |
probably benign |
Het |
| Vmn2r120 |
A |
G |
17: 57,816,372 (GRCm39) |
M661T |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,782 (GRCm39) |
I218F |
probably damaging |
Het |
| Vmn2r41 |
G |
T |
7: 8,141,682 (GRCm39) |
A594D |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,589,283 (GRCm39) |
E103G |
possibly damaging |
Het |
| Zfp62 |
G |
T |
11: 49,106,298 (GRCm39) |
G130* |
probably null |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation