Incidental Mutation 'R9682:Pfkfb3'
| ID |
728596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkfb3
|
| Ensembl Gene |
ENSMUSG00000026773 |
| Gene Name |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
| Synonyms |
uPFK-2, E330010H22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
11476241-11558882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 11491058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 179
(Q179K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028114]
[ENSMUST00000049849]
[ENSMUST00000100411]
[ENSMUST00000114844]
[ENSMUST00000114845]
[ENSMUST00000114846]
[ENSMUST00000170196]
[ENSMUST00000192949]
[ENSMUST00000171188]
[ENSMUST00000179584]
[ENSMUST00000183869]
[ENSMUST00000191668]
[ENSMUST00000195779]
|
| AlphaFold |
A7UAK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028114
AA Change: Q199K
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
2.6e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
7e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.7e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049849
AA Change: Q199K
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
3.3e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
9.7e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.9e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100411
AA Change: Q199K
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
5.8e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
219 |
9.6e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
2.4e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114844
AA Change: Q199K
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
6.6e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
1.1e-8 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
2.6e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114845
AA Change: Q199K
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
2.6e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
7e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.7e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114846
AA Change: Q199K
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
3.1e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
219 |
9e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.9e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170196
AA Change: Q199K
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
3.4e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
9.9e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
2e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192949
AA Change: Q179K
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
AA Change: Q179K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
3 |
226 |
1.9e-107 |
PFAM |
|
Pfam:KTI12
|
16 |
200 |
3.9e-6 |
PFAM |
|
Pfam:AAA_33
|
17 |
171 |
1.9e-8 |
PFAM |
|
PGAM
|
228 |
375 |
3.8e-16 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
3.2e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
209 |
4.2e-8 |
PFAM |
|
Pfam:AAA_33
|
37 |
167 |
1.8e-9 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179584
AA Change: Q199K
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
2.3e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
225 |
7e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.5e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183869
AA Change: Q199K
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
2.3e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
225 |
7e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.5e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191668
AA Change: Q199K
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
3.6e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
1e-8 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
2.1e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195779
AA Change: Q195K
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
AA Change: Q195K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
3 |
159 |
1.3e-69 |
PFAM |
|
Pfam:KTI12
|
16 |
212 |
1.8e-6 |
PFAM |
|
Pfam:AAA_33
|
17 |
163 |
1.6e-9 |
PFAM |
|
Pfam:6PF2K
|
158 |
242 |
2.2e-32 |
PFAM |
|
Pfam:His_Phos_1
|
244 |
326 |
3.4e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null mice display embryonic lethality before E8 [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,752,507 (GRCm39) |
M493L |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,896,328 (GRCm39) |
I334F |
probably damaging |
Het |
| Acad9 |
C |
T |
3: 36,136,268 (GRCm39) |
A351V |
possibly damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,316,128 (GRCm39) |
N536K |
possibly damaging |
Het |
| Alk |
A |
T |
17: 72,182,058 (GRCm39) |
L1322M |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,815,662 (GRCm39) |
V102A |
possibly damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,371,230 (GRCm39) |
N48S |
probably damaging |
Het |
| B3gnt4 |
A |
T |
5: 123,649,516 (GRCm39) |
I294L |
probably benign |
Het |
| Bnip3 |
A |
G |
7: 138,496,445 (GRCm39) |
S88P |
probably damaging |
Het |
| Ccr2 |
A |
G |
9: 123,906,176 (GRCm39) |
Y152C |
probably damaging |
Het |
| Cd28 |
T |
C |
1: 60,804,505 (GRCm39) |
L161P |
probably damaging |
Het |
| Clcn4 |
C |
T |
7: 7,299,797 (GRCm39) |
V11M |
probably benign |
Het |
| Clec4g |
T |
A |
8: 3,757,713 (GRCm39) |
S79C |
unknown |
Het |
| Cux1 |
A |
T |
5: 136,337,116 (GRCm39) |
S799T |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,857,611 (GRCm39) |
H408L |
probably damaging |
Het |
| Cyp3a41a |
A |
T |
5: 145,652,326 (GRCm39) |
W58R |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,672,484 (GRCm39) |
V921A |
probably damaging |
Het |
| Dpysl3 |
A |
G |
18: 43,491,313 (GRCm39) |
L268P |
probably damaging |
Het |
| Dus3l |
G |
A |
17: 57,076,770 (GRCm39) |
V626I |
probably benign |
Het |
| Epb41 |
C |
A |
4: 131,655,820 (GRCm39) |
D337Y |
|
Het |
| Fer1l6 |
A |
G |
15: 58,422,113 (GRCm39) |
T104A |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,302,202 (GRCm39) |
T118A |
probably benign |
Het |
| Gabra4 |
T |
A |
5: 71,798,415 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Gm28168 |
A |
T |
1: 117,875,824 (GRCm39) |
H151L |
probably damaging |
Het |
| Gm7995 |
A |
G |
14: 42,133,395 (GRCm39) |
I91V |
|
Het |
| Heg1 |
A |
G |
16: 33,541,298 (GRCm39) |
E485G |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,021 (GRCm39) |
D73G |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,091,332 (GRCm39) |
D684G |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,815,712 (GRCm39) |
E502G |
probably damaging |
Het |
| Lrrc31 |
C |
T |
3: 30,743,423 (GRCm39) |
V181I |
probably damaging |
Het |
| Lrrc7 |
G |
T |
3: 157,882,954 (GRCm39) |
S446R |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,831,526 (GRCm39) |
E1650G |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,975,419 (GRCm39) |
Y718C |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,095,384 (GRCm39) |
|
probably null |
Het |
| Muc16 |
C |
T |
9: 18,553,874 (GRCm39) |
G4140R |
unknown |
Het |
| Nfe2l1 |
A |
C |
11: 96,710,944 (GRCm39) |
I428M |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,051,469 (GRCm39) |
Y538N |
possibly damaging |
Het |
| Nxpe4 |
G |
A |
9: 48,304,248 (GRCm39) |
V112M |
probably benign |
Het |
| Or1e16 |
C |
T |
11: 73,286,025 (GRCm39) |
M274I |
probably benign |
Het |
| Or4c112 |
T |
A |
2: 88,854,296 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or4k40 |
T |
A |
2: 111,250,737 (GRCm39) |
K186N |
probably benign |
Het |
| Or52d3 |
G |
T |
7: 104,229,434 (GRCm39) |
A194S |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,989,874 (GRCm39) |
H56Y |
possibly damaging |
Het |
| Palm |
A |
G |
10: 79,655,039 (GRCm39) |
T266A |
possibly damaging |
Het |
| Pdzph1 |
T |
G |
17: 59,257,262 (GRCm39) |
K925N |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,901,214 (GRCm39) |
Q421R |
possibly damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,356,318 (GRCm39) |
S207T |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,626,790 (GRCm39) |
V324A |
probably damaging |
Het |
| Plcxd1 |
A |
T |
5: 110,251,477 (GRCm39) |
N351I |
probably damaging |
Het |
| Prr14l |
G |
A |
5: 32,988,023 (GRCm39) |
P491S |
probably benign |
Het |
| Rxfp2 |
A |
T |
5: 149,966,564 (GRCm39) |
R101* |
probably null |
Het |
| Saxo2 |
T |
G |
7: 82,292,881 (GRCm39) |
K72T |
probably benign |
Het |
| Sema3b |
T |
A |
9: 107,481,013 (GRCm39) |
D108V |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,295,748 (GRCm39) |
D150G |
probably damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,340,704 (GRCm39) |
M544I |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,646,981 (GRCm39) |
|
probably null |
Het |
| Stat3 |
A |
G |
11: 100,785,593 (GRCm39) |
F512L |
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,196,449 (GRCm39) |
S327P |
probably damaging |
Het |
| Tjp3 |
C |
T |
10: 81,109,645 (GRCm39) |
E853K |
probably benign |
Het |
| Tmem30c |
A |
T |
16: 57,111,180 (GRCm39) |
S31T |
probably benign |
Het |
| Tpte |
A |
T |
8: 22,841,493 (GRCm39) |
D495V |
probably damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,522 (GRCm39) |
M215K |
probably damaging |
Het |
| Vinac1 |
T |
C |
2: 128,875,529 (GRCm39) |
S1246G |
unknown |
Het |
| Vsig2 |
T |
C |
9: 37,451,771 (GRCm39) |
L135S |
probably benign |
Het |
|
| Other mutations in Pfkfb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Pfkfb3
|
APN |
2 |
11,493,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01651:Pfkfb3
|
APN |
2 |
11,494,495 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02010:Pfkfb3
|
APN |
2 |
11,488,805 (GRCm39) |
missense |
probably benign |
|
|
IGL02546:Pfkfb3
|
APN |
2 |
11,493,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03182:Pfkfb3
|
APN |
2 |
11,506,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1491:Pfkfb3
|
UTSW |
2 |
11,498,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2365:Pfkfb3
|
UTSW |
2 |
11,498,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2919:Pfkfb3
|
UTSW |
2 |
11,489,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2920:Pfkfb3
|
UTSW |
2 |
11,489,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4709:Pfkfb3
|
UTSW |
2 |
11,498,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Pfkfb3
|
UTSW |
2 |
11,491,123 (GRCm39) |
missense |
probably benign |
|
|
R4915:Pfkfb3
|
UTSW |
2 |
11,495,109 (GRCm39) |
nonsense |
probably null |
|
|
R5087:Pfkfb3
|
UTSW |
2 |
11,488,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Pfkfb3
|
UTSW |
2 |
11,491,162 (GRCm39) |
splice site |
probably benign |
|
|
R5244:Pfkfb3
|
UTSW |
2 |
11,489,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5488:Pfkfb3
|
UTSW |
2 |
11,489,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5573:Pfkfb3
|
UTSW |
2 |
11,506,483 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5619:Pfkfb3
|
UTSW |
2 |
11,489,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5757:Pfkfb3
|
UTSW |
2 |
11,485,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6015:Pfkfb3
|
UTSW |
2 |
11,486,146 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7495:Pfkfb3
|
UTSW |
2 |
11,487,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Pfkfb3
|
UTSW |
2 |
11,497,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7813:Pfkfb3
|
UTSW |
2 |
11,486,719 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8682:Pfkfb3
|
UTSW |
2 |
11,489,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8911:Pfkfb3
|
UTSW |
2 |
11,487,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9103:Pfkfb3
|
UTSW |
2 |
11,487,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Pfkfb3
|
UTSW |
2 |
11,491,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Pfkfb3
|
UTSW |
2 |
11,487,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Pfkfb3
|
UTSW |
2 |
11,486,109 (GRCm39) |
missense |
probably benign |
|
|
X0024:Pfkfb3
|
UTSW |
2 |
11,487,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGAGAAAGAGACTCTGATACAGC -3'
(R):5'- TTGAAAGCCCAAATCCTGCTTAATC -3'
Sequencing Primer
(F):5'- CATGTTGCCAAAGGAGAGCATCTC -3'
(R):5'- ATCTAAGCAGAAAACCTTCCAAGGTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation