Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03182:Pfkfb3'

412310

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 #

IGL03182

Quality Score

Status

Chromosome

Chromosomal Location

11476241-11558882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11506474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 13 (I13N)

Ref Sequence

ENSEMBL: ENSMUSP00000142079 (fasta)

Gene Model

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

AlphaFold

A7UAK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028114
AA Change: I13N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: I13N

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: I13N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: I13N

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: I13N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: I13N

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: I13N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: I13N

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: I13N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: I13N

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: I13N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: I13N

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: I13N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: I13N

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: I13N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: I13N

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: I13N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: I13N

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: I13N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: I13N

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: I13N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: I13N

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: ENSMUST00000145970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192827

Predicted Effect

probably benign
Transcript: ENSMUST00000192949

SMART Domains

Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773

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 benign
Transcript: ENSMUST00000195779

SMART Domains

Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	T	6: 34,780,435 (GRCm39)	K469N	probably damaging	Het
Aldh2	A	G	5: 121,718,787 (GRCm39)		probably benign	Het
Ankfy1	T	C	11: 72,619,580 (GRCm39)		probably benign	Het
Ankhd1	C	T	18: 36,711,827 (GRCm39)	T209I	probably benign	Het
Aox3	G	A	1: 58,205,046 (GRCm39)	V754I	probably benign	Het
Arfgef3	C	T	10: 18,476,292 (GRCm39)	R1509H	probably damaging	Het
Ccdc157	A	G	11: 4,101,832 (GRCm39)	S30P	probably damaging	Het
Cept1	T	A	3: 106,411,866 (GRCm39)	E369D	probably damaging	Het
Clcnka	T	C	4: 141,121,798 (GRCm39)	Y236C	probably damaging	Het
Ddx42	A	T	11: 106,138,353 (GRCm39)	L717F	probably benign	Het
Dnah11	A	T	12: 117,994,026 (GRCm39)	I2340N	probably damaging	Het
Dsel	T	C	1: 111,787,868 (GRCm39)	E889G	probably damaging	Het
Fasn	T	C	11: 120,703,552 (GRCm39)	Y1560C	probably damaging	Het
Fermt2	A	T	14: 45,699,225 (GRCm39)	M623K	possibly damaging	Het
Gm21970	T	A	16: 91,190,726 (GRCm39)	S110T	possibly damaging	Het
Gm826	T	A	2: 160,169,035 (GRCm39)	R91S	unknown	Het
Lrrn3	A	G	12: 41,504,020 (GRCm39)	L99S	probably damaging	Het
Megf8	T	A	7: 25,046,773 (GRCm39)	M1552K	possibly damaging	Het
Mgll	G	T	6: 88,800,173 (GRCm39)	V191F	probably damaging	Het
Nkapd1	T	C	9: 50,523,698 (GRCm39)	N50S	possibly damaging	Het
Nol8	C	A	13: 49,817,557 (GRCm39)	H778N	probably damaging	Het
Or1e26	T	A	11: 73,480,268 (GRCm39)	T99S	probably benign	Het
Or5b116	A	C	19: 13,422,807 (GRCm39)	T144P	possibly damaging	Het
Or8g30	A	T	9: 39,230,277 (GRCm39)	M211K	probably benign	Het
Or8k40	A	T	2: 86,584,366 (GRCm39)	S239T	probably damaging	Het
Pim1	T	A	17: 29,710,740 (GRCm39)	D114E	possibly damaging	Het
Pkd1	T	C	17: 24,792,792 (GRCm39)	L1493P	probably damaging	Het
Plb1	A	T	5: 32,502,259 (GRCm39)		probably benign	Het
Plch1	A	T	3: 63,610,015 (GRCm39)	Y872*	probably null	Het
Rictor	A	G	15: 6,819,079 (GRCm39)	D1434G	probably benign	Het
Rptor	G	A	11: 119,615,971 (GRCm39)	G162R	probably damaging	Het
Serping1	T	C	2: 84,596,162 (GRCm39)	D424G	probably damaging	Het
Slit2	A	G	5: 48,377,395 (GRCm39)	I475V	possibly damaging	Het
Snx31	G	T	15: 36,525,833 (GRCm39)	Q289K	probably benign	Het
Tbc1d13	G	A	2: 30,037,379 (GRCm39)	A254T	probably damaging	Het
Tek	T	C	4: 94,740,002 (GRCm39)	I750T	probably damaging	Het
Tet2	A	T	3: 133,177,159 (GRCm39)	L1296*	probably null	Het
Tmem145	T	A	7: 25,014,304 (GRCm39)	F459I	probably damaging	Het
Uba5	A	T	9: 103,931,328 (GRCm39)	V247D	possibly damaging	Het
Vmn1r83	T	C	7: 12,055,617 (GRCm39)	M147V	probably benign	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Zfp609	A	G	9: 65,608,287 (GRCm39)	S1198P	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
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
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

2016-08-02