Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02546:Pfkfb3'

297848

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 #

IGL02546

Quality Score

Status

Chromosome

Chromosomal Location

11476241-11558882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11493589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 129 (F129Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141445 (fasta)

Gene Model

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

AlphaFold

A7UAK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028114
AA Change: F149Y

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

SMART Domains

Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: F149Y

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: F149Y

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

SMART Domains

Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: F149Y

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: F149Y

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

SMART Domains

Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: F149Y

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: F149Y

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

SMART Domains

Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: F149Y

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: F149Y

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

SMART Domains

Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: F149Y

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: F149Y

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

SMART Domains

Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: F149Y

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: F149Y

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

SMART Domains

Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: F149Y

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: F149Y

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

SMART Domains

Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: F149Y

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: F149Y

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

SMART Domains

Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: F149Y

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: ENSMUST00000179584
AA Change: F149Y

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

SMART Domains

Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: F149Y

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: F129Y

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

SMART Domains

Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
AA Change: F129Y

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: ENSMUST00000170196
AA Change: F149Y

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

SMART Domains

Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: F149Y

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: ENSMUST00000195779
AA Change: F129Y

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

SMART Domains

Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
AA Change: F129Y

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: ENSMUST00000155167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150086

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	T	12: 52,927,521 (GRCm39)	V144L	probably damaging	Het
Carmil1	A	T	13: 24,299,482 (GRCm39)	N347K	probably damaging	Het
Cyp4a32	A	G	4: 115,468,520 (GRCm39)	Y334C	probably damaging	Het
Dmxl2	C	A	9: 54,273,698 (GRCm39)		probably benign	Het
Eps8	C	T	6: 137,456,064 (GRCm39)	A806T	probably benign	Het
Evl	A	G	12: 108,614,678 (GRCm39)	N24S	possibly damaging	Het
Fbxo15	T	C	18: 84,980,847 (GRCm39)		probably null	Het
Gm14179	A	T	11: 99,634,019 (GRCm39)			Het
Hepacam2	A	G	6: 3,483,568 (GRCm39)	V147A	possibly damaging	Het
Jmjd1c	C	A	10: 67,061,115 (GRCm39)	P1156Q	possibly damaging	Het
Mab21l3	A	T	3: 101,730,624 (GRCm39)	V205E	probably damaging	Het
Mad2l1	T	C	6: 66,512,951 (GRCm39)	I28T	probably damaging	Het
Minar2	T	A	18: 59,205,347 (GRCm39)	M45K	probably damaging	Het
Mroh9	T	A	1: 162,908,145 (GRCm39)	I2F	probably benign	Het
Msr1	A	T	8: 40,068,788 (GRCm39)	I302K	probably benign	Het
Msrb3	C	T	10: 120,685,906 (GRCm39)	V80I	possibly damaging	Het
Ncf4	A	G	15: 78,145,219 (GRCm39)	D269G	probably damaging	Het
Nsl1	T	A	1: 190,803,398 (GRCm39)	H156Q	probably benign	Het
Nutm1	T	C	2: 112,078,669 (GRCm39)	D1082G	probably benign	Het
Or6c216	T	A	10: 129,678,416 (GRCm39)	D165V	probably damaging	Het
Or7g20	T	A	9: 18,946,650 (GRCm39)	V77D	possibly damaging	Het
Orc4	T	C	2: 48,807,296 (GRCm39)	I212V	probably null	Het
Pde6c	A	G	19: 38,128,488 (GRCm39)	I184V	probably benign	Het
Ppp3cb	T	C	14: 20,551,622 (GRCm39)	D493G	probably benign	Het
Psg29	A	G	7: 16,942,707 (GRCm39)	Y236C	probably damaging	Het
Pzp	C	T	6: 128,471,662 (GRCm39)		probably benign	Het
Semp2l2b	A	T	10: 21,942,826 (GRCm39)	W385R	probably damaging	Het
Sgf29	T	A	7: 126,271,025 (GRCm39)	V180E	probably damaging	Het
Sh3bp4	A	G	1: 89,071,266 (GRCm39)		probably benign	Het
Slc39a2	A	T	14: 52,132,620 (GRCm39)	T188S	probably benign	Het
Slc6a13	G	T	6: 121,310,323 (GRCm39)	M327I	probably benign	Het
Slitrk6	T	A	14: 110,987,226 (GRCm39)	H827L	probably benign	Het
Thumpd2	T	G	17: 81,361,884 (GRCm39)	K114T	probably benign	Het
Tnfrsf19	A	T	14: 61,210,987 (GRCm39)	C234S	possibly damaging	Het
Tns2	A	G	15: 102,019,375 (GRCm39)	D446G	probably damaging	Het
Tpm4	A	G	8: 72,898,547 (GRCm39)	E137G	probably damaging	Het
Ttn	G	A	2: 76,625,901 (GRCm39)	R13307C	probably damaging	Het
Ubqln3	A	G	7: 103,791,725 (GRCm39)	S122P	probably benign	Het
Ubr5	T	C	15: 38,008,991 (GRCm39)	D1080G	probably benign	Het
Ulk4	A	T	9: 120,981,373 (GRCm39)	L886*	probably null	Het
Unc80	T	C	1: 66,594,112 (GRCm39)	S1164P	possibly damaging	Het
Uspl1	T	C	5: 149,141,114 (GRCm39)	V371A	possibly damaging	Het
Virma	T	C	4: 11,494,804 (GRCm39)	V35A	probably damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp787	A	T	7: 6,135,297 (GRCm39)	I318N	probably damaging	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
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

2015-04-16