Incidental Mutation 'IGL02010:Pfkfb3'
ID |
183311 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pfkfb3
|
Ensembl Gene |
ENSMUSG00000026773 |
Gene Name |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
Synonyms |
uPFK-2, E330010H22Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02010
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
11476241-11558882 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 11488805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 320
(T320A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028114]
[ENSMUST00000049849]
[ENSMUST00000100411]
[ENSMUST00000114844]
[ENSMUST00000114845]
[ENSMUST00000114846]
[ENSMUST00000171188]
[ENSMUST00000179584]
[ENSMUST00000191668]
[ENSMUST00000183869]
[ENSMUST00000170196]
[ENSMUST00000192949]
[ENSMUST00000195779]
|
AlphaFold |
A7UAK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028114
AA Change: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028114 Gene: ENSMUSG00000026773 AA Change: T340A
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: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000050926 Gene: ENSMUSG00000026773 AA Change: T340A
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: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097979 Gene: ENSMUSG00000026773 AA Change: T340A
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: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110493 Gene: ENSMUSG00000026773 AA Change: T340A
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: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110494 Gene: ENSMUSG00000026773 AA Change: T340A
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: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110495 Gene: ENSMUSG00000026773 AA Change: T340A
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 |
noncoding transcript
Transcript: ENSMUST00000150086
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171188
AA Change: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129122 Gene: ENSMUSG00000026773 AA Change: T340A
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
AA Change: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137130 Gene: ENSMUSG00000026773 AA Change: T340A
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: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142079 Gene: ENSMUSG00000026773 AA Change: T340A
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: ENSMUST00000183869
AA Change: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138893 Gene: ENSMUSG00000026773 AA Change: T340A
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: ENSMUST00000170196
AA Change: T340A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126305 Gene: ENSMUSG00000026773 AA Change: T340A
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: T320A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142296 Gene: ENSMUSG00000026773 AA Change: T320A
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 |
noncoding transcript
Transcript: ENSMUST00000192844
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191726
|
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 |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,110,442 (GRCm39) |
D569G |
probably benign |
Het |
Abhd17b |
C |
T |
19: 21,661,485 (GRCm39) |
T224I |
probably benign |
Het |
Atf6b |
T |
A |
17: 34,873,626 (GRCm39) |
S695R |
probably benign |
Het |
Cdh6 |
A |
C |
15: 13,034,276 (GRCm39) |
|
probably benign |
Het |
Cep290 |
G |
T |
10: 100,344,569 (GRCm39) |
C462F |
probably benign |
Het |
Cep290 |
T |
C |
10: 100,397,207 (GRCm39) |
S2156P |
probably benign |
Het |
Cfap20dc |
A |
T |
14: 8,578,384 (GRCm38) |
H119Q |
possibly damaging |
Het |
Cit |
T |
C |
5: 116,014,006 (GRCm39) |
F240L |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,512,416 (GRCm39) |
|
probably null |
Het |
Ctcf |
T |
A |
8: 106,391,597 (GRCm39) |
H297Q |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,103,168 (GRCm39) |
|
probably null |
Het |
Dhx37 |
T |
G |
5: 125,495,777 (GRCm39) |
T835P |
possibly damaging |
Het |
Enc1 |
C |
T |
13: 97,381,588 (GRCm39) |
L33F |
possibly damaging |
Het |
Epyc |
T |
A |
10: 97,485,563 (GRCm39) |
M1K |
probably null |
Het |
F10 |
T |
C |
8: 13,098,292 (GRCm39) |
I165T |
probably damaging |
Het |
Fam124a |
T |
C |
14: 62,824,728 (GRCm39) |
L74P |
probably damaging |
Het |
Fam234b |
A |
G |
6: 135,186,405 (GRCm39) |
S138G |
probably benign |
Het |
Fam81a |
T |
C |
9: 70,006,419 (GRCm39) |
K198E |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,170,794 (GRCm39) |
Y2199C |
probably damaging |
Het |
Fign |
A |
C |
2: 63,810,744 (GRCm39) |
S175R |
probably damaging |
Het |
Grik1 |
T |
C |
16: 87,848,396 (GRCm39) |
N124S |
possibly damaging |
Het |
Hdac9 |
G |
T |
12: 34,481,944 (GRCm39) |
L175M |
probably damaging |
Het |
Hephl1 |
A |
C |
9: 15,001,852 (GRCm39) |
Y163* |
probably null |
Het |
Hes1 |
G |
A |
16: 29,886,128 (GRCm39) |
G244D |
probably damaging |
Het |
Hexb |
A |
G |
13: 97,313,353 (GRCm39) |
L501P |
probably benign |
Het |
Igkv5-43 |
T |
C |
6: 69,752,936 (GRCm39) |
I49V |
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,170,789 (GRCm39) |
S491P |
probably benign |
Het |
Jakmip2 |
C |
T |
18: 43,692,158 (GRCm39) |
|
probably null |
Het |
Lrfn5 |
A |
G |
12: 61,886,469 (GRCm39) |
T86A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,358,954 (GRCm39) |
T640A |
probably damaging |
Het |
M6pr |
G |
T |
6: 122,292,085 (GRCm39) |
R139L |
possibly damaging |
Het |
Myl9 |
A |
T |
2: 156,620,579 (GRCm39) |
N39Y |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,440,361 (GRCm39) |
D646G |
probably benign |
Het |
Nlrp5 |
A |
T |
7: 23,116,797 (GRCm39) |
M174L |
probably benign |
Het |
Nnmt |
T |
A |
9: 48,503,331 (GRCm39) |
I232F |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,408,171 (GRCm39) |
T21A |
probably benign |
Het |
Or5t15 |
C |
T |
2: 86,681,541 (GRCm39) |
C167Y |
possibly damaging |
Het |
Or6c65 |
A |
G |
10: 129,604,136 (GRCm39) |
Y257C |
probably benign |
Het |
Pcare |
T |
A |
17: 72,056,459 (GRCm39) |
T1073S |
probably benign |
Het |
Pcdh7 |
T |
G |
5: 58,286,597 (GRCm39) |
N1224K |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,114,850 (GRCm39) |
|
probably null |
Het |
Plekhm2 |
T |
C |
4: 141,364,730 (GRCm39) |
|
probably benign |
Het |
Rabgap1l |
C |
T |
1: 160,299,641 (GRCm39) |
R584H |
probably damaging |
Het |
Rnf157 |
T |
A |
11: 116,287,052 (GRCm39) |
N57I |
probably damaging |
Het |
Rtf1 |
G |
A |
2: 119,531,747 (GRCm39) |
|
probably null |
Het |
Sap130 |
C |
A |
18: 31,782,655 (GRCm39) |
R189S |
probably damaging |
Het |
Slc34a1 |
T |
G |
13: 24,003,025 (GRCm39) |
V225G |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,785,369 (GRCm39) |
|
probably benign |
Het |
Tecta |
G |
A |
9: 42,248,489 (GRCm39) |
T1971I |
probably damaging |
Het |
Tlcd5 |
A |
T |
9: 43,022,859 (GRCm39) |
V165E |
probably damaging |
Het |
Tmem263 |
T |
A |
10: 84,950,274 (GRCm39) |
S22T |
probably benign |
Het |
Tnrc18 |
A |
T |
5: 142,773,049 (GRCm39) |
F410L |
unknown |
Het |
Ttc27 |
T |
G |
17: 75,087,906 (GRCm39) |
|
probably benign |
Het |
Vmn1r45 |
A |
T |
6: 89,910,668 (GRCm39) |
C101S |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,112,738 (GRCm39) |
K781E |
probably damaging |
Het |
Xkr6 |
C |
T |
14: 64,056,653 (GRCm39) |
T188M |
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 |
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 |
|
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 |
|
Posted On |
2014-05-07 |