Incidental Mutation 'R1490:Pfkfb4'
| ID |
163658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkfb4
|
| Ensembl Gene |
ENSMUSG00000025648 |
| Gene Name |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
| Synonyms |
|
| MMRRC Submission |
039542-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1490 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108820846-108861296 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108856688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 398
(L398P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051873]
[ENSMUST00000196249]
[ENSMUST00000198140]
[ENSMUST00000199591]
|
| AlphaFold |
Q6DTY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051873
AA Change: L382P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648
AA Change: L382P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
28 |
249 |
3.2e-105 |
PFAM |
|
Pfam:AAA_33
|
41 |
199 |
2.3e-8 |
PFAM |
|
PGAM
|
251 |
398 |
4.39e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196249
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198140
AA Change: L398P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648
AA Change: L398P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
28 |
249 |
1.9e-105 |
PFAM |
|
Pfam:AAA_33
|
41 |
198 |
8.5e-10 |
PFAM |
|
PGAM
|
251 |
398 |
4.39e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199184
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199591
AA Change: S391P
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142992
Gene: ENSMUSG00000025648
AA Change: S391P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
28 |
249 |
1.4e-105 |
PFAM |
|
Pfam:AAA_33
|
41 |
198 |
6.6e-10 |
PFAM |
|
PGAM
|
251 |
396 |
4.98e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200015
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| 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 is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,356,234 (GRCm39) |
T52I |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 98,114,952 (GRCm39) |
R633W |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,162,389 (GRCm39) |
N507S |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,991,193 (GRCm39) |
S1520P |
probably benign |
Het |
| Cacul1 |
G |
T |
19: 60,568,837 (GRCm39) |
A107E |
probably damaging |
Het |
| Cd74 |
A |
G |
18: 60,944,438 (GRCm39) |
D216G |
probably damaging |
Het |
| Cdh16 |
A |
T |
8: 105,348,702 (GRCm39) |
W109R |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,586,775 (GRCm39) |
V100I |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,897,071 (GRCm39) |
D679G |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,826,563 (GRCm39) |
D46G |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,011,430 (GRCm39) |
Y95H |
probably benign |
Het |
| Dmrta2 |
T |
C |
4: 109,837,072 (GRCm39) |
S5P |
unknown |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,746 (GRCm39) |
Y426C |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,383,225 (GRCm39) |
S87G |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,473,888 (GRCm39) |
R232G |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,421,232 (GRCm39) |
V812D |
probably damaging |
Het |
| Gm10153 |
C |
T |
7: 141,743,879 (GRCm39) |
C83Y |
unknown |
Het |
| Gpd2 |
T |
C |
2: 57,245,487 (GRCm39) |
V394A |
probably damaging |
Het |
| Hpcal1 |
A |
T |
12: 17,836,225 (GRCm39) |
E18D |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,844,530 (GRCm39) |
D156G |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,753,595 (GRCm39) |
K510E |
probably benign |
Het |
| Ms4a19 |
A |
G |
19: 11,118,902 (GRCm39) |
I69T |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,503,051 (GRCm39) |
R1035Q |
probably damaging |
Het |
| Myh6 |
T |
A |
14: 55,200,175 (GRCm39) |
K235* |
probably null |
Het |
| Nedd1 |
A |
G |
10: 92,536,660 (GRCm39) |
F214S |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,197 (GRCm39) |
V237A |
possibly damaging |
Het |
| Or1o3 |
A |
G |
17: 37,573,733 (GRCm39) |
M274T |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,672 (GRCm39) |
M28T |
probably benign |
Het |
| Or52e15 |
A |
G |
7: 104,645,700 (GRCm39) |
I137T |
possibly damaging |
Het |
| Pfkfb2 |
A |
C |
1: 130,625,626 (GRCm39) |
|
probably null |
Het |
| Pfn3 |
T |
G |
13: 55,562,732 (GRCm39) |
D83A |
probably damaging |
Het |
| Pi4ka |
C |
A |
16: 17,204,132 (GRCm39) |
W54L |
probably damaging |
Het |
| Ppp3r1 |
A |
G |
11: 17,148,275 (GRCm39) |
D161G |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,372,230 (GRCm39) |
S1757P |
probably benign |
Het |
| Samd7 |
A |
G |
3: 30,812,502 (GRCm39) |
E314G |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,088,736 (GRCm39) |
I217T |
probably benign |
Het |
| Slc22a1 |
A |
T |
17: 12,881,780 (GRCm39) |
|
probably null |
Het |
| Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,721,104 (GRCm39) |
H905Q |
probably benign |
Het |
| Thada |
G |
A |
17: 84,754,029 (GRCm39) |
T314I |
possibly damaging |
Het |
| Tirap |
ACTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTG |
9: 35,100,362 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
C |
14: 50,600,633 (GRCm39) |
H873P |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,611 (GRCm39) |
T135S |
possibly damaging |
Het |
| Tmem116 |
T |
C |
5: 121,633,174 (GRCm39) |
S183P |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,550 (GRCm39) |
I572K |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,092,038 (GRCm39) |
T523I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,916,687 (GRCm39) |
Q364* |
probably null |
Het |
| Vmn1r61 |
T |
C |
7: 5,614,242 (GRCm39) |
Q24R |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,874,495 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
G |
A |
13: 67,405,573 (GRCm39) |
P286S |
probably damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,091 (GRCm39) |
C373S |
probably benign |
Het |
| Zfp768 |
T |
A |
7: 126,942,803 (GRCm39) |
I442F |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,263,853 (GRCm39) |
R284G |
probably benign |
Het |
|
| Other mutations in Pfkfb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01653:Pfkfb4
|
APN |
9 |
108,828,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01978:Pfkfb4
|
APN |
9 |
108,858,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02119:Pfkfb4
|
APN |
9 |
108,854,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02121:Pfkfb4
|
APN |
9 |
108,854,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Pfkfb4
|
APN |
9 |
108,854,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Pfkfb4
|
APN |
9 |
108,854,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Pfkfb4
|
APN |
9 |
108,854,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02126:Pfkfb4
|
APN |
9 |
108,854,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Pfkfb4
|
APN |
9 |
108,859,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02881:Pfkfb4
|
APN |
9 |
108,836,364 (GRCm39) |
missense |
probably null |
1.00 |
|
PIT4466001:Pfkfb4
|
UTSW |
9 |
108,828,222 (GRCm39) |
missense |
probably benign |
0.12 |
|
PIT4472001:Pfkfb4
|
UTSW |
9 |
108,828,222 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0087:Pfkfb4
|
UTSW |
9 |
108,836,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Pfkfb4
|
UTSW |
9 |
108,839,711 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0109:Pfkfb4
|
UTSW |
9 |
108,827,957 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0109:Pfkfb4
|
UTSW |
9 |
108,827,957 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0379:Pfkfb4
|
UTSW |
9 |
108,856,810 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Pfkfb4
|
UTSW |
9 |
108,856,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Pfkfb4
|
UTSW |
9 |
108,836,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1146:Pfkfb4
|
UTSW |
9 |
108,836,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1521:Pfkfb4
|
UTSW |
9 |
108,836,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Pfkfb4
|
UTSW |
9 |
108,828,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Pfkfb4
|
UTSW |
9 |
108,834,677 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3112:Pfkfb4
|
UTSW |
9 |
108,854,110 (GRCm39) |
splice site |
probably benign |
|
|
R5470:Pfkfb4
|
UTSW |
9 |
108,856,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Pfkfb4
|
UTSW |
9 |
108,837,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Pfkfb4
|
UTSW |
9 |
108,859,462 (GRCm39) |
unclassified |
probably benign |
|
|
R6139:Pfkfb4
|
UTSW |
9 |
108,856,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6632:Pfkfb4
|
UTSW |
9 |
108,838,630 (GRCm39) |
splice site |
probably null |
|
|
R6873:Pfkfb4
|
UTSW |
9 |
108,839,403 (GRCm39) |
splice site |
probably null |
|
|
R6958:Pfkfb4
|
UTSW |
9 |
108,839,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:Pfkfb4
|
UTSW |
9 |
108,828,222 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7131:Pfkfb4
|
UTSW |
9 |
108,836,370 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7148:Pfkfb4
|
UTSW |
9 |
108,856,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7284:Pfkfb4
|
UTSW |
9 |
108,840,308 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7903:Pfkfb4
|
UTSW |
9 |
108,828,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Pfkfb4
|
UTSW |
9 |
108,854,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Pfkfb4
|
UTSW |
9 |
108,834,667 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTAAACACAGCCTCTAGCGTGG -3'
(R):5'- AACATGCAGGAAGCTCCCTTACCG -3'
Sequencing Primer
(F):5'- cagttagggtttctattgctgtg -3'
(R):5'- GGAAGCTCCCTTACCGTAAGC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation