Incidental Mutation 'R8911:Pfkfb3'
| ID |
678597 |
| 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 |
068764-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8911 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11476241-11558882 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 11487254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
| 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
|
| SMART Domains |
Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
| 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
|
| SMART Domains |
Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
| 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
|
| SMART Domains |
Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
| 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 null
Transcript: ENSMUST00000192949
|
| SMART Domains |
Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
| 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 |
probably benign
Transcript: ENSMUST00000171188
|
| SMART Domains |
Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
| 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 |
probably benign
Transcript: ENSMUST00000179584
|
| SMART Domains |
Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (76/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,429,234 (GRCm39) |
I774F |
probably benign |
Het |
| 3425401B19Rik |
A |
T |
14: 32,383,626 (GRCm39) |
C780S |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,380,690 (GRCm39) |
D306G |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,558,163 (GRCm39) |
|
probably benign |
Het |
| Agt |
T |
C |
8: 125,291,184 (GRCm39) |
Y41C |
probably benign |
Het |
| Alx3 |
G |
T |
3: 107,511,603 (GRCm39) |
R204L |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bcl11a |
C |
T |
11: 24,114,763 (GRCm39) |
P702L |
probably damaging |
Het |
| Bpifa2 |
A |
G |
2: 153,851,090 (GRCm39) |
N17S |
probably benign |
Het |
| Cabcoco1 |
T |
C |
10: 68,377,584 (GRCm39) |
D35G |
probably benign |
Het |
| Cd69 |
T |
C |
6: 129,252,187 (GRCm39) |
K21R |
probably benign |
Het |
| Cdhr18 |
T |
C |
14: 13,823,796 (GRCm38) |
|
probably null |
Het |
| Cntn4 |
T |
C |
6: 106,330,743 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
A |
C |
17: 58,506,043 (GRCm39) |
N689T |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,883,238 (GRCm39) |
Y389C |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,887,630 (GRCm39) |
|
probably null |
Het |
| Coro1b |
G |
A |
19: 4,200,803 (GRCm39) |
R245Q |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,748,019 (GRCm39) |
D244G |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 172,937,121 (GRCm39) |
|
probably null |
Het |
| Dpy19l4 |
G |
A |
4: 11,317,078 (GRCm39) |
P40L |
possibly damaging |
Het |
| Dsg4 |
C |
A |
18: 20,584,929 (GRCm39) |
Y214* |
probably null |
Het |
| Eapp |
A |
T |
12: 54,739,440 (GRCm39) |
|
probably benign |
Het |
| Fmo6 |
T |
C |
1: 162,748,114 (GRCm39) |
T317A |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,564 (GRCm39) |
C39R |
unknown |
Het |
| Golim4 |
T |
C |
3: 75,813,703 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,740,903 (GRCm39) |
S1393L |
possibly damaging |
Het |
| Guca1b |
A |
G |
17: 47,700,044 (GRCm39) |
I73V |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,694,789 (GRCm39) |
V796I |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,795,616 (GRCm39) |
I2271T |
probably damaging |
Het |
| Heg1 |
T |
G |
16: 33,558,627 (GRCm39) |
Y1066* |
probably null |
Het |
| Helz2 |
C |
A |
2: 180,880,173 (GRCm39) |
K514N |
|
Het |
| Ice1 |
C |
T |
13: 70,740,787 (GRCm39) |
R70Q |
|
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,004,447 (GRCm39) |
T245A |
probably damaging |
Het |
| Jhy |
G |
A |
9: 40,822,453 (GRCm39) |
Q562* |
probably null |
Het |
| Khnyn |
A |
G |
14: 56,124,735 (GRCm39) |
R330G |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 153,027,873 (GRCm39) |
C184S |
probably damaging |
Het |
| Lhx5 |
T |
A |
5: 120,574,509 (GRCm39) |
L271* |
probably null |
Het |
| Magel2 |
G |
A |
7: 62,029,537 (GRCm39) |
V814M |
unknown |
Het |
| Manf |
A |
G |
9: 106,767,461 (GRCm39) |
I85T |
possibly damaging |
Het |
| Mgmt |
A |
G |
7: 136,729,794 (GRCm39) |
T203A |
probably benign |
Het |
| Mmp9 |
C |
T |
2: 164,794,568 (GRCm39) |
S520F |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,484 (GRCm39) |
E578G |
possibly damaging |
Het |
| Naaladl2 |
A |
G |
3: 23,900,757 (GRCm39) |
M691T |
probably damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4c112 |
T |
C |
2: 88,854,294 (GRCm39) |
N18D |
probably benign |
Het |
| Or4c117 |
T |
C |
2: 88,955,608 (GRCm39) |
I156V |
probably benign |
Het |
| Pcdhga12 |
A |
T |
18: 37,900,118 (GRCm39) |
M317L |
possibly damaging |
Het |
| Pcnt |
T |
G |
10: 76,223,359 (GRCm39) |
K1941T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,650,917 (GRCm39) |
M896K |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,946,201 (GRCm39) |
S542P |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,247,257 (GRCm39) |
V822A |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,915,141 (GRCm39) |
G717C |
probably damaging |
Het |
| Ptprs |
C |
T |
17: 56,730,320 (GRCm39) |
A1185T |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,503,560 (GRCm39) |
I1157F |
probably damaging |
Het |
| Rbbp6 |
A |
G |
7: 122,591,268 (GRCm39) |
T457A |
possibly damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,812 (GRCm39) |
E270G |
probably damaging |
Het |
| Rrp15 |
C |
T |
1: 186,453,641 (GRCm39) |
E269K |
unknown |
Het |
| Sec23b |
T |
C |
2: 144,401,316 (GRCm39) |
V59A |
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,846,809 (GRCm39) |
|
probably null |
Het |
| Sp5 |
C |
A |
2: 70,306,962 (GRCm39) |
P216T |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,775,622 (GRCm39) |
D385E |
probably damaging |
Het |
| Trim37 |
C |
T |
11: 87,097,629 (GRCm39) |
S808F |
possibly damaging |
Het |
| Tsks |
A |
T |
7: 44,592,694 (GRCm39) |
|
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,791,087 (GRCm39) |
S563T |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,987,893 (GRCm39) |
D580G |
unknown |
Het |
| Usp14 |
A |
G |
18: 9,996,194 (GRCm39) |
I462T |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r184 |
C |
G |
7: 25,966,310 (GRCm39) |
Q19E |
possibly damaging |
Het |
| Vps50 |
C |
A |
6: 3,516,710 (GRCm39) |
A64E |
probably benign |
Het |
| Zc3h11a |
T |
A |
1: 133,566,339 (GRCm39) |
N211I |
probably damaging |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,061 (GRCm39) |
S723T |
probably benign |
Het |
| Zmynd12 |
A |
T |
4: 119,294,286 (GRCm39) |
I88F |
probably damaging |
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 |
|
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 |
|
|
R9682:Pfkfb3
|
UTSW |
2 |
11,491,058 (GRCm39) |
missense |
probably benign |
0.26 |
|
X0024:Pfkfb3
|
UTSW |
2 |
11,487,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTATGAAGTGATGAAGCCCAC -3'
(R):5'- TGATGAAGACTGCGAGTGAC -3'
Sequencing Primer
(F):5'- GAAGTGATGAAGCCCACTAAATATC -3'
(R):5'- AAGACTGCGAGTGACTGCCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation