Mutagenetix > Incidental Mutation

Incidental Mutation 'R8506:Pfkfb4'

655584

Institutional Source

Beutler Lab

Gene Symbol

Pfkfb4

Ensembl Gene

ENSMUSG00000025648

Gene Name

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

Synonyms

MMRRC Submission

067842-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8506 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108820846-108861296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108834667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 113 (D113E)

Ref Sequence

ENSEMBL: ENSMUSP00000142378 (fasta)

Gene Model

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

AlphaFold

Q6DTY7

Predicted Effect

probably benign
Transcript: ENSMUST00000051873
AA Change: D97E

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648
AA Change: D97E

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

possibly damaging
Transcript: ENSMUST00000198140
AA Change: D113E

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648
AA Change: D113E

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

probably damaging
Transcript: ENSMUST00000199591
AA Change: D113E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142992
Gene: ENSMUSG00000025648
AA Change: D113E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,820,171 (GRCm39)	E197V	possibly damaging	Het
Alkbh8	C	T	9: 3,335,616 (GRCm39)		probably benign	Het
Ank1	G	A	8: 23,586,851 (GRCm39)	A498T	probably damaging	Het
Antxr1	T	A	6: 87,165,155 (GRCm39)	E427D	possibly damaging	Het
App	A	C	16: 84,879,704 (GRCm39)	V143G	unknown	Het
Bod1l	C	A	5: 41,976,398 (GRCm39)	E1639*	probably null	Het
C2cd2	T	C	16: 97,676,621 (GRCm39)	D122G		Het
Ccdc88b	G	T	19: 6,824,690 (GRCm39)	P1357T	probably damaging	Het
Ccnyl1	A	G	1: 64,753,821 (GRCm39)	T211A	possibly damaging	Het
Cdc25a	T	C	9: 109,720,820 (GRCm39)	Y434H	probably damaging	Het
Ceacam16	C	A	7: 19,586,195 (GRCm39)	A106S	unknown	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chpf2	T	C	5: 24,793,295 (GRCm39)	L87P	probably damaging	Het
Col5a2	A	T	1: 45,481,944 (GRCm39)	I60N	unknown	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Dchs2	A	T	3: 83,208,481 (GRCm39)	I1845L	probably benign	Het
Disp3	C	T	4: 148,326,027 (GRCm39)	V1244I	possibly damaging	Het
Dnah8	T	C	17: 30,940,108 (GRCm39)	S1685P	probably benign	Het
Etnppl	G	A	3: 130,423,122 (GRCm39)	V274I	possibly damaging	Het
Evc2	T	C	5: 37,540,486 (GRCm39)	S561P	probably damaging	Het
Fga	A	G	3: 82,940,623 (GRCm39)	E759G	probably damaging	Het
Gdpd5	T	C	7: 99,103,157 (GRCm39)	F372S	probably benign	Het
Gpr155	T	C	2: 73,173,806 (GRCm39)	T868A	probably damaging	Het
Herc1	A	G	9: 66,380,863 (GRCm39)	D3580G	possibly damaging	Het
Hmbs	A	G	9: 44,252,921 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,457,947 (GRCm39)	E161D	probably damaging	Het
Ighv8-4	A	G	12: 114,987,728 (GRCm39)	V90A	possibly damaging	Het
Itpr2	A	G	6: 146,319,914 (GRCm39)		probably null	Het
Kcnc2	T	A	10: 112,291,537 (GRCm39)	F242I	probably damaging	Het
Kcnj5	A	G	9: 32,233,628 (GRCm39)	I229T	probably damaging	Het
Lamb1	A	T	12: 31,379,360 (GRCm39)	L1791F	probably damaging	Het
Med6	A	T	12: 81,641,734 (GRCm39)	M1K	probably null	Het
Mei4	A	G	9: 81,861,291 (GRCm39)	D294G	probably benign	Het
Nat10	T	C	2: 103,562,582 (GRCm39)	I585V	probably benign	Het
Nid1	T	C	13: 13,650,759 (GRCm39)	V432A	probably damaging	Het
Nlrp4c	G	T	7: 6,103,775 (GRCm39)	G903V	possibly damaging	Het
Nrf1	G	A	6: 30,126,256 (GRCm39)	A416T	probably benign	Het
Nsl1	G	C	1: 190,808,832 (GRCm39)	C173S	unknown	Het
Obsl1	G	A	1: 75,482,300 (GRCm39)	A190V	probably benign	Het
Or13a22	G	A	7: 140,073,336 (GRCm39)	V262I	probably benign	Het
Or51f1d	T	A	7: 102,700,709 (GRCm39)	M68K	probably damaging	Het
Or5b3	A	G	19: 13,388,604 (GRCm39)	T224A	possibly damaging	Het
Or5w8	A	T	2: 87,688,181 (GRCm39)	I221F	probably damaging	Het
Or8k3	A	G	2: 86,058,922 (GRCm39)	L131P	possibly damaging	Het
Or8k38	T	C	2: 86,488,745 (GRCm39)	D19G	probably benign	Het
Osbpl1a	G	A	18: 12,901,643 (GRCm39)	T621I	probably benign	Het
Pabpc4l	G	A	3: 46,400,832 (GRCm39)	R271*	probably null	Het
Paics	A	T	5: 77,112,437 (GRCm39)	D307V	possibly damaging	Het
Pcdhga9	A	G	18: 37,871,737 (GRCm39)	D522G	probably damaging	Het
Pclo	T	A	5: 14,590,759 (GRCm39)	C1020S	unknown	Het
Plod3	A	G	5: 137,017,830 (GRCm39)	Y202C	probably damaging	Het
Pmp22	T	A	11: 63,049,090 (GRCm39)	M111K	probably damaging	Het
Pole2	A	C	12: 69,255,734 (GRCm39)	S344A	probably benign	Het
Pom121l2	A	G	13: 22,167,789 (GRCm39)	T687A	probably benign	Het
Psmd6	A	G	14: 14,114,181 (GRCm38)	S313P	probably damaging	Het
Rd3	T	G	1: 191,715,228 (GRCm39)	M1R	probably null	Het
Rtn4ip1	G	A	10: 43,804,352 (GRCm39)	V235I	probably benign	Het
Senp5	T	C	16: 31,787,719 (GRCm39)	I635V	probably damaging	Het
Stox2	T	C	8: 47,645,108 (GRCm39)	E784G	possibly damaging	Het
Syce2	A	T	8: 85,613,795 (GRCm39)	D168V	probably benign	Het
Taar6	A	G	10: 23,861,529 (GRCm39)	S6P	probably benign	Het
Tbc1d16	A	C	11: 119,039,784 (GRCm39)	H675Q	probably damaging	Het
Tmem151b	A	T	17: 45,856,327 (GRCm39)	I371N	probably damaging	Het
Trim31	A	T	17: 37,218,150 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,338,029 (GRCm39)	Y268C	probably damaging	Het
Vmn2r11	A	G	5: 109,207,270 (GRCm39)	S17P	probably benign	Het
Vmn2r110	T	A	17: 20,804,627 (GRCm39)	N98Y	probably benign	Het
Vps13b	T	A	15: 35,446,891 (GRCm39)	D515E	probably benign	Het
Yeats2	T	G	16: 19,971,684 (GRCm39)	I42M	probably 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
R3112:Pfkfb4	UTSW	9	108,854,110 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- GCGTTCAGAAAACCGACAGC -3'
(R):5'- TTCAAGTCCAGGGGAAACG -3'

Sequencing Primer
(F):5'- CGACAGCCAGGGACACAG -3'
(R):5'- AGGCCCAGACAGTTCCTTCTG -3'

Posted On

2020-10-20