Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00767:Pfkfb3'

12981

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) question?

Stock #

IGL00767

Quality Score

Status

Chromosome

Chromosomal Location

11476241-11558882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11493565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 137 (D137G)

Ref Sequence

ENSEMBL: ENSMUSP00000141445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028114] [ENSMUST00000049849] [ENSMUST00000100411] [ENSMUST00000114844] [ENSMUST00000114845] [ENSMUST00000114846] [ENSMUST00000171188] [ENSMUST00000191668] [ENSMUST00000192949] [ENSMUST00000179584] [ENSMUST00000195779] [ENSMUST00000170196] [ENSMUST00000183869]

AlphaFold

A7UAK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028114
AA Change: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: D157G

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: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: D157G

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: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: D157G

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: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: D157G

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: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: D157G

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: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: D157G

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: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: D157G

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: ENSMUST00000191668
AA Change: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: D157G

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: ENSMUST00000192949
AA Change: D137G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
AA Change: D137G

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: ENSMUST00000179584
AA Change: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: D157G

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: ENSMUST00000195779
AA Change: D137G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
AA Change: D137G

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: ENSMUST00000170196
AA Change: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: D157G

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 damaging
Transcript: ENSMUST00000183869
AA Change: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: D157G

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

noncoding transcript
Transcript: ENSMUST00000192844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144921

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anpep	A	C	7: 79,490,638 (GRCm39)	S293A	probably benign	Het
Dgkh	T	A	14: 78,824,701 (GRCm39)		probably benign	Het
Dlg5	T	A	14: 24,215,353 (GRCm39)	T657S	probably damaging	Het
Hpf1	A	G	8: 61,349,836 (GRCm39)	I155V	probably benign	Het
Il12rb2	T	C	6: 67,280,546 (GRCm39)	I554V	possibly damaging	Het
Mindy2	A	G	9: 70,541,285 (GRCm39)		probably null	Het
Nostrin	A	G	2: 69,006,119 (GRCm39)	T268A	probably benign	Het
Npy6r	A	G	18: 44,409,385 (GRCm39)	T269A	probably benign	Het
Nt5dc3	T	A	10: 86,656,137 (GRCm39)		probably benign	Het
Osgin2	G	A	4: 16,006,377 (GRCm39)	H106Y	probably damaging	Het
Pdlim3	G	A	8: 46,349,827 (GRCm39)	G46R	probably damaging	Het
Pdpk1	T	G	17: 24,325,835 (GRCm39)	K147N	possibly damaging	Het
Polg	G	A	7: 79,101,673 (GRCm39)	P1048S	probably damaging	Het
Ptcd3	A	T	6: 71,880,432 (GRCm39)	I97K	probably damaging	Het
Resf1	T	C	6: 149,236,248 (GRCm39)		probably benign	Het
Serpinb10	G	T	1: 107,463,807 (GRCm39)	V30F	possibly damaging	Het
Stk17b	A	G	1: 53,803,182 (GRCm39)		probably benign	Het
Tll1	G	A	8: 64,524,355 (GRCm39)	R444C	probably damaging	Het
Ttbk2	A	G	2: 120,576,226 (GRCm39)	V848A	probably benign	Het
Ttn	T	C	2: 76,716,017 (GRCm39)		probably benign	Het

Other mutations in Pfkfb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06