Incidental Mutation 'R1491:Pfkfb3'
| ID |
163701 |
| 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 |
039543-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1491 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
11476241-11558882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 11498747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 37
(R37S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028114]
[ENSMUST00000049849]
[ENSMUST00000100411]
[ENSMUST00000114844]
[ENSMUST00000114845]
[ENSMUST00000114846]
[ENSMUST00000171188]
[ENSMUST00000183869]
[ENSMUST00000192949]
[ENSMUST00000191668]
[ENSMUST00000195779]
[ENSMUST00000179584]
[ENSMUST00000170196]
|
| AlphaFold |
A7UAK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028114
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: R57S
| 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 damaging
Transcript: ENSMUST00000049849
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: R57S
| 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 damaging
Transcript: ENSMUST00000100411
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: R57S
| 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 damaging
Transcript: ENSMUST00000114844
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: R57S
| 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 damaging
Transcript: ENSMUST00000114845
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: R57S
| 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 damaging
Transcript: ENSMUST00000114846
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: R57S
| 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: ENSMUST00000140580
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171188
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: R57S
| 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 damaging
Transcript: ENSMUST00000183869
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: R57S
| 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 damaging
Transcript: ENSMUST00000192949
AA Change: R37S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
AA Change: R37S
| 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 damaging
Transcript: ENSMUST00000191668
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: R57S
| 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 damaging
Transcript: ENSMUST00000195779
AA Change: R37S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
AA Change: R37S
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179584
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: R57S
| 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 damaging
Transcript: ENSMUST00000170196
AA Change: R57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: R57S
| 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 |
noncoding transcript
Transcript: ENSMUST00000150086
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192844
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730018C14Rik |
T |
A |
12: 112,381,489 (GRCm39) |
|
noncoding transcript |
Het |
| Acss3 |
A |
G |
10: 106,773,169 (GRCm39) |
S606P |
probably benign |
Het |
| Adamts13 |
C |
T |
2: 26,868,327 (GRCm39) |
T146M |
probably damaging |
Het |
| Adora2b |
G |
A |
11: 62,156,363 (GRCm39) |
V271M |
probably benign |
Het |
| Agpat5 |
A |
G |
8: 18,896,739 (GRCm39) |
Y55C |
probably damaging |
Het |
| AI987944 |
A |
C |
7: 41,023,772 (GRCm39) |
Y402* |
probably null |
Het |
| Angptl4 |
C |
T |
17: 34,000,165 (GRCm39) |
A68T |
possibly damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,814,531 (GRCm39) |
I325M |
probably benign |
Het |
| Arfgap2 |
A |
G |
2: 91,105,204 (GRCm39) |
K423E |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,522,302 (GRCm39) |
S575T |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,008,198 (GRCm39) |
I40V |
possibly damaging |
Het |
| Arhgef7 |
T |
C |
8: 11,869,733 (GRCm39) |
|
probably null |
Het |
| Arid1a |
C |
A |
4: 133,448,237 (GRCm39) |
S477I |
unknown |
Het |
| Armc7 |
T |
C |
11: 115,367,029 (GRCm39) |
V58A |
probably damaging |
Het |
| Arrdc5 |
A |
T |
17: 56,601,222 (GRCm39) |
I301N |
probably damaging |
Het |
| Capn15 |
G |
A |
17: 26,183,453 (GRCm39) |
P343S |
probably damaging |
Het |
| Catspere2 |
C |
T |
1: 177,843,495 (GRCm39) |
T69I |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cgn |
C |
T |
3: 94,670,535 (GRCm39) |
R1002Q |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,414,449 (GRCm39) |
I759N |
possibly damaging |
Het |
| Cops5 |
A |
G |
1: 10,104,243 (GRCm39) |
V166A |
possibly damaging |
Het |
| Cramp1 |
G |
T |
17: 25,191,323 (GRCm39) |
T1046K |
probably benign |
Het |
| Cthrc1 |
T |
G |
15: 38,950,072 (GRCm39) |
V143G |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,849,490 (GRCm39) |
Q552* |
probably null |
Het |
| Cyp27b1 |
A |
T |
10: 126,886,957 (GRCm39) |
D391V |
probably damaging |
Het |
| Dcun1d2 |
A |
G |
8: 13,331,040 (GRCm39) |
L30S |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 20,120,091 (GRCm39) |
E189G |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,193,675 (GRCm39) |
S295A |
probably damaging |
Het |
| Dusp22 |
A |
G |
13: 30,892,798 (GRCm39) |
T192A |
probably benign |
Het |
| Esp24 |
A |
T |
17: 39,349,176 (GRCm39) |
M1L |
probably null |
Het |
| Evc2 |
G |
A |
5: 37,550,541 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
A |
G |
10: 93,880,694 (GRCm39) |
N516S |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,426,714 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Fut8 |
T |
A |
12: 77,495,448 (GRCm39) |
I346K |
possibly damaging |
Het |
| Gata3 |
A |
C |
2: 9,882,201 (GRCm39) |
V32G |
probably damaging |
Het |
| Glrb |
A |
T |
3: 80,819,282 (GRCm39) |
C39S |
possibly damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,016 (GRCm39) |
V253A |
probably benign |
Het |
| Hdac5 |
A |
G |
11: 102,092,079 (GRCm39) |
V670A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,266,980 (GRCm39) |
S1085G |
probably benign |
Het |
| Hspa4l |
A |
G |
3: 40,741,226 (GRCm39) |
N746S |
probably benign |
Het |
| Hyal5 |
A |
G |
6: 24,877,902 (GRCm39) |
T333A |
probably benign |
Het |
| Ippk |
T |
C |
13: 49,615,069 (GRCm39) |
V484A |
probably benign |
Het |
| Jmjd8 |
A |
T |
17: 26,048,266 (GRCm39) |
T33S |
possibly damaging |
Het |
| Kctd19 |
T |
A |
8: 106,113,694 (GRCm39) |
I660L |
possibly damaging |
Het |
| Lrat |
A |
G |
3: 82,810,649 (GRCm39) |
V124A |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,502,358 (GRCm39) |
I281V |
probably benign |
Het |
| Mast2 |
T |
A |
4: 116,173,688 (GRCm39) |
I455F |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,560,255 (GRCm39) |
L683P |
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,777,683 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
T |
C |
9: 49,416,849 (GRCm39) |
E814G |
probably benign |
Het |
| Ncoa3 |
A |
G |
2: 165,897,182 (GRCm39) |
T658A |
probably benign |
Het |
| Or13a20 |
T |
G |
7: 140,232,650 (GRCm39) |
Y253D |
probably damaging |
Het |
| Or9a2 |
T |
C |
6: 41,748,456 (GRCm39) |
Y259C |
possibly damaging |
Het |
| P2ry13 |
T |
C |
3: 59,116,939 (GRCm39) |
K280E |
probably damaging |
Het |
| Paqr8 |
C |
A |
1: 21,005,048 (GRCm39) |
F67L |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,941,478 (GRCm39) |
D310G |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,602,286 (GRCm39) |
S26G |
possibly damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,755,147 (GRCm39) |
I1684F |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,488,637 (GRCm39) |
V621A |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,116 (GRCm39) |
N82S |
probably damaging |
Het |
| Pomgnt2 |
A |
G |
9: 121,811,326 (GRCm39) |
V485A |
probably damaging |
Het |
| Psmd9 |
A |
G |
5: 123,366,410 (GRCm39) |
E14G |
probably benign |
Het |
| Pwwp2b |
A |
G |
7: 138,835,879 (GRCm39) |
E440G |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,113,100 (GRCm39) |
Q771* |
probably null |
Het |
| Rft1 |
C |
T |
14: 30,388,744 (GRCm39) |
Q223* |
probably null |
Het |
| Rgs22 |
C |
A |
15: 36,093,047 (GRCm39) |
V409F |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,701,672 (GRCm39) |
P261S |
possibly damaging |
Het |
| Rpl7a |
A |
G |
2: 26,801,127 (GRCm39) |
N38S |
probably damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,004 (GRCm39) |
F41Y |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,603,388 (GRCm39) |
S34R |
probably damaging |
Het |
| Sult2a3 |
A |
T |
7: 13,856,867 (GRCm39) |
Y18N |
probably benign |
Het |
| Tapt1 |
A |
G |
5: 44,375,444 (GRCm39) |
|
probably null |
Het |
| Tex2 |
A |
T |
11: 106,394,466 (GRCm39) |
C615S |
possibly damaging |
Het |
| Trim43b |
T |
C |
9: 88,969,665 (GRCm39) |
K261R |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,495,583 (GRCm39) |
M484K |
probably damaging |
Het |
| Vezf1 |
T |
A |
11: 87,964,573 (GRCm39) |
S242T |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,034 (GRCm39) |
Y230C |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,965 (GRCm39) |
S149P |
probably damaging |
Het |
| Wfdc1 |
T |
A |
8: 120,393,405 (GRCm39) |
|
probably null |
Het |
| Zfp975 |
T |
C |
7: 42,312,236 (GRCm39) |
T126A |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,776,105 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACCAATACTAAGCAGCATGAAGC -3'
(R):5'- CATTGGGTCATCAGACAGATAGCAGG -3'
Sequencing Primer
(F):5'- CATCTGATGGGACTTTCAAAGG -3'
(R):5'- gttgcccattgttgccc -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation