Mutagenetix > Incidental Mutations

Incidental Mutation 'R0087:Pfkfb4'

19961

Institutional Source

Beutler Lab

Gene Symbol

Pfkfb4

Ensembl Gene

ENSMUSG00000025648

Gene Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

Synonyms

MMRRC Submission

038374-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0087 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

108991778-109032228 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 109007701 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 155 (V155F)

Ref Sequence

ENSEMBL: ENSMUSP00000142992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051873] [ENSMUST00000196249] [ENSMUST00000198140] [ENSMUST00000199591]

Predicted Effect

probably damaging
Transcript: ENSMUST00000051873
AA Change: V139F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648
AA Change: V139F

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	249	3.2e-105	PFAM
Pfam:AAA_33	41	199	2.3e-8	PFAM
PGAM	251	398	4.39e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196249

Predicted Effect

probably damaging
Transcript: ENSMUST00000198140
AA Change: V155F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648
AA Change: V155F

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	249	1.9e-105	PFAM
Pfam:AAA_33	41	198	8.5e-10	PFAM
PGAM	251	398	4.39e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199184

Predicted Effect

probably damaging
Transcript: ENSMUST00000199591
AA Change: V155F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142992
Gene: ENSMUSG00000025648
AA Change: V155F

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	249	1.4e-105	PFAM
Pfam:AAA_33	41	198	6.6e-10	PFAM
PGAM	251	396	4.98e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200229

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.5%
20x: 82.3%

Validation Efficiency

86% (59/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,226,607	L71Q	probably damaging	Het
Adgrv1	T	A	13: 81,386,951	I5732F	probably damaging	Het
Adss	A	T	1: 177,771,222	V330E	probably benign	Het
Agps	T	A	2: 75,909,635	Y488N	probably damaging	Het
Ap3s1	A	T	18: 46,758,039	R66S	probably damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp2a2	C	T	5: 122,460,961	V593I	probably benign	Het
Chrna6	C	T	8: 27,406,986	V288M	probably damaging	Het
Col4a2	C	T	8: 11,441,296	L1232F	probably benign	Het
Dcaf1	A	G	9: 106,863,089	N1225D	probably damaging	Het
Degs1	A	G	1: 182,279,310	I128T	probably benign	Het
Dnah5	A	T	15: 28,350,613	T2594S	probably damaging	Het
Dnah8	G	T	17: 30,755,119	R2826L	probably damaging	Het
Elf3	A	G	1: 135,257,137	Y104H	probably damaging	Het
Fam222b	C	A	11: 78,153,892	T93N	probably benign	Het
Fbxw26	A	G	9: 109,724,938	I211T	probably benign	Het
Fcho2	T	C	13: 98,735,086	T541A	probably benign	Het
Flg2	T	C	3: 93,202,431	S589P	unknown	Het
Foxj3	T	A	4: 119,626,400	V589E	unknown	Het
Gria1	A	G	11: 57,317,712	Y742C	probably damaging	Het
Inpp5d	T	C	1: 87,715,138	S672P	probably damaging	Het
Lrrc19	A	C	4: 94,640,772	F91C	probably damaging	Het
Lrrc6	T	C	15: 66,469,975	T91A	probably benign	Het
Mppe1	A	G	18: 67,225,704	*398R	probably null	Het
Mroh3	T	C	1: 136,190,803	I561V	probably benign	Het
Myh11	C	A	16: 14,224,019	Q720H	probably damaging	Het
Nbea	G	T	3: 56,091,023	T121K	possibly damaging	Het
Nbr1	A	C	11: 101,564,693	D91A	probably benign	Het
Ncam2	C	A	16: 81,434,901	N84K	probably benign	Het
Olfr1260	T	C	2: 89,978,131	Y118H	probably damaging	Het
Olfr616	A	T	7: 103,564,362	C306S	probably benign	Het
Olfr618	A	G	7: 103,597,721	Y135C	probably benign	Het
Olfr651	A	G	7: 104,553,662	I248V	possibly damaging	Het
Olfr711	A	G	7: 106,972,116	V76A	probably benign	Het
Pdgfrb	A	T	18: 61,061,513	I121F	probably damaging	Het
Peak1	A	T	9: 56,258,325	I773N	probably damaging	Het
Pkm	C	T	9: 59,678,099	R455*	probably null	Het
Plbd2	C	A	5: 120,494,485	E151*	probably null	Het
Pld5	G	A	1: 175,984,459	T353M	probably damaging	Het
Psme2b	A	T	11: 48,945,717	D134E	possibly damaging	Het
Rida	T	A	15: 34,488,626	D40V	possibly damaging	Het
Rnf126	A	T	10: 79,759,234	H265Q	probably damaging	Het
Rock2	C	A	12: 16,928,966	Q86K	probably benign	Het
Serpinb1b	A	T	13: 33,085,319	T12S	probably benign	Het
Slco6c1	T	A	1: 97,118,578	Q277L	probably benign	Het
Sptlc2	T	A	12: 87,369,118	H45L	probably benign	Het
Srsf4	A	G	4: 131,900,330		probably benign	Het
Sspo	A	G	6: 48,477,785	S2969G	probably damaging	Het
Steap1	C	T	5: 5,736,664	G258R	probably damaging	Het
Stk19	A	T	17: 34,836,875	M1K	probably null	Het
Stk-ps2	C	A	1: 46,029,889		noncoding transcript	Het
Taf1c	C	T	8: 119,600,987	R332H	probably damaging	Het
Thbs4	T	A	13: 92,755,235	T791S	probably damaging	Het
Theg	A	T	10: 79,585,951	Y144*	probably null	Het
Tjap1	A	G	17: 46,263,726	L21P	probably damaging	Het
Tmem145	A	G	7: 25,307,843	Y148C	probably damaging	Het
Tmem267	T	A	13: 119,609,274	V155E	probably benign	Het
Tns1	T	A	1: 73,916,917	H549L	possibly damaging	Het
Tyro3	T	G	2: 119,801,701	I83S	probably benign	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Vmn1r53	A	T	6: 90,223,431	C304S	probably benign	Het
Vwf	G	A	6: 125,645,954	M1761I	probably benign	Het
Zfp276	T	C	8: 123,265,047	Y445H	probably damaging	Het
Zfp407	A	T	18: 84,560,411	I859N	probably damaging	Het

Other mutations in Pfkfb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:Pfkfb4	APN	9	108999134	missense	probably damaging	1.00
IGL01978:Pfkfb4	APN	9	109028942	missense	probably damaging	1.00
IGL02119:Pfkfb4	APN	9	109025110	missense	probably damaging	1.00
IGL02121:Pfkfb4	APN	9	109025110	missense	probably damaging	1.00
IGL02122:Pfkfb4	APN	9	109025110	missense	probably damaging	1.00
IGL02123:Pfkfb4	APN	9	109025110	missense	probably damaging	1.00
IGL02125:Pfkfb4	APN	9	109025110	missense	probably damaging	1.00
IGL02126:Pfkfb4	APN	9	109025110	missense	probably damaging	1.00
IGL02506:Pfkfb4	APN	9	109030336	missense	probably benign	0.00
IGL02881:Pfkfb4	APN	9	109007296	missense	probably null	1.00
PIT4466001:Pfkfb4	UTSW	9	108999154	missense	probably benign	0.12
PIT4472001:Pfkfb4	UTSW	9	108999154	missense	probably benign	0.12
R0101:Pfkfb4	UTSW	9	109010643	missense	probably benign	0.03
R0109:Pfkfb4	UTSW	9	108998889	missense	probably benign	0.27
R0109:Pfkfb4	UTSW	9	108998889	missense	probably benign	0.27
R0379:Pfkfb4	UTSW	9	109027742	splice site	probably benign
R0511:Pfkfb4	UTSW	9	109027757	missense	probably damaging	1.00
R1146:Pfkfb4	UTSW	9	109007726	missense	probably benign	0.00
R1146:Pfkfb4	UTSW	9	109007726	missense	probably benign	0.00
R1490:Pfkfb4	UTSW	9	109027620	missense	probably damaging	1.00
R1521:Pfkfb4	UTSW	9	109007305	missense	probably damaging	1.00
R1932:Pfkfb4	UTSW	9	108999169	missense	probably damaging	1.00
R2214:Pfkfb4	UTSW	9	109005609	missense	probably benign	0.17
R3112:Pfkfb4	UTSW	9	109025042	splice site	probably benign
R5470:Pfkfb4	UTSW	9	109027593	missense	probably damaging	1.00
R5646:Pfkfb4	UTSW	9	109008421	missense	probably damaging	1.00
R5930:Pfkfb4	UTSW	9	109030394	unclassified	probably benign
R6139:Pfkfb4	UTSW	9	109027757	missense	probably damaging	1.00
R6632:Pfkfb4	UTSW	9	109009562	intron	probably null
R6873:Pfkfb4	UTSW	9	109010335	intron	probably null
R6958:Pfkfb4	UTSW	9	109010547	missense	probably damaging	1.00
R7098:Pfkfb4	UTSW	9	108999154	missense	probably benign	0.05
R7131:Pfkfb4	UTSW	9	109007302	missense	probably benign	0.21
R7148:Pfkfb4	UTSW	9	109027608	missense	probably damaging	0.99
R7284:Pfkfb4	UTSW	9	109011240	missense	possibly damaging	0.88
R7903:Pfkfb4	UTSW	9	108998951	missense	probably damaging	1.00
R7986:Pfkfb4	UTSW	9	108998951	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGTTGTGTATCTGGACCCTCG -3'
(R):5'- GATCACTGAAGGTCAGGCCAAGAAC -3'

Sequencing Primer
(F):5'- TGTATCTGGACCCTCGGAGAC -3'
(R):5'- CCAGCCCAAACTGGGACG -3'

Posted On

2013-04-11