Incidental Mutation 'IGL02972:Pfkl'
| ID |
365863 |
| 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 # |
IGL02972
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77824108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 760
(D760G)
|
| 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: D760G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
AA Change: D760G
| 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
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
A |
17: 37,289,412 (GRCm39) |
I105F |
possibly damaging |
Het |
| Bmpr1b |
C |
T |
3: 141,576,519 (GRCm39) |
D105N |
probably benign |
Het |
| Ces2e |
A |
T |
8: 105,653,693 (GRCm39) |
S44C |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,855,174 (GRCm39) |
N2134K |
probably benign |
Het |
| Chst15 |
T |
C |
7: 131,870,902 (GRCm39) |
D211G |
probably damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,569 (GRCm39) |
S571G |
probably damaging |
Het |
| Gna11 |
T |
C |
10: 81,369,225 (GRCm39) |
I113V |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,410 (GRCm39) |
Y480C |
probably damaging |
Het |
| Mccc1 |
C |
T |
3: 36,039,238 (GRCm39) |
V252I |
possibly damaging |
Het |
| Nol12 |
A |
G |
15: 78,824,799 (GRCm39) |
T209A |
probably damaging |
Het |
| Or2y14 |
G |
A |
11: 49,404,918 (GRCm39) |
G151D |
probably damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,101 (GRCm39) |
M82T |
probably damaging |
Het |
| Or7e168 |
T |
C |
9: 19,720,238 (GRCm39) |
F208S |
probably damaging |
Het |
| P3h1 |
C |
A |
4: 119,105,157 (GRCm39) |
Q712K |
possibly damaging |
Het |
| Per2 |
T |
A |
1: 91,351,703 (GRCm39) |
E934D |
possibly damaging |
Het |
| Piezo2 |
C |
A |
18: 63,197,856 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,813,908 (GRCm39) |
R1481Q |
probably damaging |
Het |
| Plpp3 |
T |
C |
4: 105,065,989 (GRCm39) |
V189A |
possibly damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,105,921 (GRCm39) |
E592G |
probably null |
Het |
| Prdm2 |
A |
T |
4: 142,858,736 (GRCm39) |
M1518K |
probably benign |
Het |
| Rhbdl3 |
G |
A |
11: 80,222,742 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
C |
T |
11: 44,454,865 (GRCm39) |
S582F |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,310,533 (GRCm39) |
D421G |
probably benign |
Het |
| Serac1 |
A |
C |
17: 6,121,039 (GRCm39) |
L85* |
probably null |
Het |
| Slc43a1 |
T |
G |
2: 84,690,462 (GRCm39) |
V460G |
probably damaging |
Het |
| Slc7a6 |
G |
A |
8: 106,906,059 (GRCm39) |
C97Y |
probably damaging |
Het |
| Slco5a1 |
A |
T |
1: 13,060,379 (GRCm39) |
L114* |
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,450,584 (GRCm39) |
V396A |
probably benign |
Het |
| Tmem232 |
T |
A |
17: 65,783,668 (GRCm39) |
H233L |
probably benign |
Het |
| Tmprss11c |
C |
T |
5: 86,385,692 (GRCm39) |
S247N |
possibly damaging |
Het |
| Tnc |
C |
T |
4: 63,894,715 (GRCm39) |
S1557N |
probably benign |
Het |
| Txlng |
A |
G |
X: 161,590,551 (GRCm39) |
M94T |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,879,509 (GRCm39) |
I87K |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,042,196 (GRCm39) |
S133R |
probably damaging |
Het |
| Ugt1a5 |
C |
T |
1: 88,094,144 (GRCm39) |
T124I |
probably benign |
Het |
| Vamp1 |
G |
T |
6: 125,196,610 (GRCm39) |
R117L |
probably benign |
Het |
| Vmn1r87 |
G |
T |
7: 12,866,256 (GRCm39) |
Y10* |
probably null |
Het |
| Zan |
G |
A |
5: 137,461,948 (GRCm39) |
T1077I |
unknown |
Het |
| Zc2hc1b |
C |
A |
10: 13,047,025 (GRCm39) |
V29F |
probably damaging |
Het |
| Zfp597 |
T |
C |
16: 3,684,387 (GRCm39) |
D123G |
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 |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation