Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01651:Pfkfb3'

102834

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 #

IGL01651

Quality Score

Status

Chromosome

Chromosomal Location

11476241-11558882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11494495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 143 (E143G)

Ref Sequence

ENSEMBL: ENSMUSP00000142079 (fasta)

Gene Model

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

AlphaFold

A7UAK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028114
AA Change: E143G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: E143G

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: E143G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: E143G

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: E143G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: E143G

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

possibly damaging
Transcript: ENSMUST00000114844
AA Change: E143G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: E143G

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: E143G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: E143G

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: E143G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: E143G

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

possibly damaging
Transcript: ENSMUST00000183869
AA Change: E143G

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: E143G

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

possibly damaging
Transcript: ENSMUST00000192949
AA Change: E123G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
AA Change: E123G

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

possibly damaging
Transcript: ENSMUST00000170196
AA Change: E143G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: E143G

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: ENSMUST00000179584
AA Change: E143G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: E143G

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: ENSMUST00000191668
AA Change: E143G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: E143G

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: ENSMUST00000171188
AA Change: E143G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: E143G

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: ENSMUST00000195779
AA Change: E123G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
AA Change: E123G

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

noncoding transcript
Transcript: ENSMUST00000192844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155167

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	T	C	2: 181,136,531 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,633,458 (GRCm39)	V2980E	probably benign	Het
Anxa7	A	G	14: 20,506,569 (GRCm39)	L457P	probably damaging	Het
Asic2	T	C	11: 80,784,856 (GRCm39)	D310G	probably damaging	Het
Btbd9	T	C	17: 30,439,391 (GRCm39)	S599G	unknown	Het
Col25a1	G	A	3: 130,360,134 (GRCm39)	M487I	probably benign	Het
Ddx42	T	A	11: 106,138,855 (GRCm39)	F885I	probably benign	Het
Foxi3	T	C	6: 70,933,975 (GRCm39)	V154A	probably damaging	Het
Golga3	A	C	5: 110,340,771 (GRCm39)		probably null	Het
Igdcc4	T	C	9: 65,031,394 (GRCm39)	V491A	possibly damaging	Het
Kcnh7	T	A	2: 62,564,628 (GRCm39)	D877V	possibly damaging	Het
Kcnu1	A	G	8: 26,351,123 (GRCm39)	D162G	probably damaging	Het
Morc2a	T	C	11: 3,608,727 (GRCm39)		probably null	Het
Ndufv2	T	C	17: 66,396,466 (GRCm39)	N47S	possibly damaging	Het
Npepl1	T	A	2: 173,956,181 (GRCm39)		probably benign	Het
Or6k4	A	T	1: 173,964,907 (GRCm39)	D199V	probably damaging	Het
Otud7b	C	T	3: 96,060,807 (GRCm39)	Q441*	probably null	Het
Pard3b	A	C	1: 62,518,963 (GRCm39)		probably benign	Het
Pphln1	C	A	15: 93,386,864 (GRCm39)	Q321K	probably damaging	Het
Rnf121	A	G	7: 101,691,862 (GRCm39)	S2P	probably damaging	Het
Slc25a42	G	A	8: 70,639,250 (GRCm39)	R276C	possibly damaging	Het
Smgc	T	C	15: 91,743,986 (GRCm39)		probably benign	Het
Tdrd5	C	T	1: 156,129,397 (GRCm39)	M104I	probably benign	Het
Vmn2r26	T	A	6: 124,027,632 (GRCm39)	N457K	probably benign	Het
Zfp474	T	C	18: 52,771,655 (GRCm39)	S103P	probably damaging	Het
Zfp53	A	G	17: 21,728,348 (GRCm39)	N127S	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
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

2014-01-21