Mutagenetix > Incidental Mutation

Incidental Mutation 'R3112:Pfkfb4'

263745

Institutional Source

Beutler Lab

Gene Symbol

Pfkfb4

Ensembl Gene

ENSMUSG00000025648

Gene Name

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

Synonyms

MMRRC Submission

040585-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108820846-108861296 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 108854110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6DTY7

Predicted Effect

probably benign
Transcript: ENSMUST00000051873

SMART Domains

Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648

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 benign
Transcript: ENSMUST00000198140

SMART Domains

Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648

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: ENSMUST00000198763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199184

Predicted Effect

probably benign
Transcript: ENSMUST00000199591

SMART Domains

Protein: ENSMUSP00000142992
Gene: ENSMUSG00000025648

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acads	T	C	5: 115,255,757 (GRCm39)	H26R	probably benign	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,938,123 (GRCm39)	D90E	probably damaging	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Itgav	T	A	2: 83,622,915 (GRCm39)	C662*	probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Mlc1	A	T	15: 88,850,199 (GRCm39)	D192E	probably benign	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Orc1	T	A	4: 108,461,757 (GRCm39)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Phactr3	T	A	2: 177,920,810 (GRCm39)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,757,112 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,344,369 (GRCm39)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Ttc13	A	G	8: 125,410,573 (GRCm39)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	possibly damaging	Het

Other mutations in Pfkfb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:Pfkfb4	APN	9	108,828,202 (GRCm39)	missense	probably damaging	1.00
IGL01978:Pfkfb4	APN	9	108,858,010 (GRCm39)	missense	probably damaging	1.00
IGL02119:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02121:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02122:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02123:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02125:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02126:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02506:Pfkfb4	APN	9	108,859,404 (GRCm39)	missense	probably benign	0.00
IGL02881:Pfkfb4	APN	9	108,836,364 (GRCm39)	missense	probably null	1.00
PIT4466001:Pfkfb4	UTSW	9	108,828,222 (GRCm39)	missense	probably benign	0.12
PIT4472001:Pfkfb4	UTSW	9	108,828,222 (GRCm39)	missense	probably benign	0.12
R0087:Pfkfb4	UTSW	9	108,836,769 (GRCm39)	missense	probably damaging	1.00
R0101:Pfkfb4	UTSW	9	108,839,711 (GRCm39)	missense	probably benign	0.03
R0109:Pfkfb4	UTSW	9	108,827,957 (GRCm39)	missense	probably benign	0.27
R0109:Pfkfb4	UTSW	9	108,827,957 (GRCm39)	missense	probably benign	0.27
R0379:Pfkfb4	UTSW	9	108,856,810 (GRCm39)	splice site	probably benign
R0511:Pfkfb4	UTSW	9	108,856,825 (GRCm39)	missense	probably damaging	1.00
R1146:Pfkfb4	UTSW	9	108,836,794 (GRCm39)	missense	probably benign	0.00
R1146:Pfkfb4	UTSW	9	108,836,794 (GRCm39)	missense	probably benign	0.00
R1490:Pfkfb4	UTSW	9	108,856,688 (GRCm39)	missense	probably damaging	1.00
R1521:Pfkfb4	UTSW	9	108,836,373 (GRCm39)	missense	probably damaging	1.00
R1932:Pfkfb4	UTSW	9	108,828,237 (GRCm39)	missense	probably damaging	1.00
R2214:Pfkfb4	UTSW	9	108,834,677 (GRCm39)	missense	probably benign	0.17
R5470:Pfkfb4	UTSW	9	108,856,661 (GRCm39)	missense	probably damaging	1.00
R5646:Pfkfb4	UTSW	9	108,837,489 (GRCm39)	missense	probably damaging	1.00
R5930:Pfkfb4	UTSW	9	108,859,462 (GRCm39)	unclassified	probably benign
R6139:Pfkfb4	UTSW	9	108,856,825 (GRCm39)	missense	probably damaging	1.00
R6632:Pfkfb4	UTSW	9	108,838,630 (GRCm39)	splice site	probably null
R6873:Pfkfb4	UTSW	9	108,839,403 (GRCm39)	splice site	probably null
R6958:Pfkfb4	UTSW	9	108,839,615 (GRCm39)	missense	probably damaging	1.00
R7098:Pfkfb4	UTSW	9	108,828,222 (GRCm39)	missense	probably benign	0.05
R7131:Pfkfb4	UTSW	9	108,836,370 (GRCm39)	missense	probably benign	0.21
R7148:Pfkfb4	UTSW	9	108,856,676 (GRCm39)	missense	probably damaging	0.99
R7284:Pfkfb4	UTSW	9	108,840,308 (GRCm39)	missense	possibly damaging	0.88
R7903:Pfkfb4	UTSW	9	108,828,019 (GRCm39)	missense	probably damaging	1.00
R7973:Pfkfb4	UTSW	9	108,854,179 (GRCm39)	missense	probably damaging	1.00
R8506:Pfkfb4	UTSW	9	108,834,667 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GCTTCCTACAAAAGTGGCTACC -3'
(R):5'- ACATCCAGGAGACAGAGCTG -3'

Sequencing Primer
(F):5'- TGGCTACCACTAAAACTTACTGTC -3'
(R):5'- ACACCTAGGCTGCCTGC -3'

Posted On

2015-02-05