Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02121:Pfkfb4'

280602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pfkfb4

Ensembl Gene

ENSMUSG00000025648

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02121

Quality Score

Status

Chromosome

Chromosomal Location

108820846-108861296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108854178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 351 (R351W)

Ref Sequence

ENSEMBL: ENSMUSP00000142992 (fasta)

Gene Model

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

AlphaFold

Q6DTY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000051873
AA Change: R335W

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

SMART Domains

Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648
AA Change: R335W

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: R351W

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

SMART Domains

Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648
AA Change: R351W

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 damaging
Transcript: ENSMUST00000199591
AA Change: R351W

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

SMART Domains

Protein: ENSMUSP00000142992
Gene: ENSMUSG00000025648
AA Change: R351W

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

unknown
Transcript: ENSMUST00000200015
AA Change: R61W

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 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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	A	T	13: 97,159,038 (GRCm39)	V122D	unknown	Het
4930579F01Rik	T	G	3: 137,870,134 (GRCm39)	Y199S	possibly damaging	Het
Abca6	T	A	11: 110,073,750 (GRCm39)	I1434F	probably benign	Het
Acsm1	T	C	7: 119,257,635 (GRCm39)	V467A	possibly damaging	Het
Alg3	T	C	16: 20,425,285 (GRCm39)	T260A	possibly damaging	Het
Aoc1	A	G	6: 48,883,254 (GRCm39)		probably null	Het
Ap5b1	C	T	19: 5,620,815 (GRCm39)	T745I	possibly damaging	Het
Atp6v1c2	T	G	12: 17,341,441 (GRCm39)	K272Q	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cert1	T	G	13: 96,735,982 (GRCm39)	Y181D	probably benign	Het
Clcn7	C	T	17: 25,372,058 (GRCm39)	A426V	possibly damaging	Het
Clec14a	T	C	12: 58,315,223 (GRCm39)	E133G	probably damaging	Het
Dst	T	A	1: 34,267,738 (GRCm39)	V2720E	probably damaging	Het
Efr3a	C	T	15: 65,742,999 (GRCm39)		probably benign	Het
Fam83g	T	C	11: 61,575,609 (GRCm39)	S84P	probably benign	Het
Gm7251	T	C	13: 49,959,382 (GRCm39)		noncoding transcript	Het
Gnptab	T	G	10: 88,265,323 (GRCm39)	S312A	possibly damaging	Het
Grap2	C	A	15: 80,532,076 (GRCm39)	S230R	possibly damaging	Het
Grm6	T	A	11: 50,750,483 (GRCm39)	C549S	probably damaging	Het
Gtf3c1	A	T	7: 125,245,903 (GRCm39)	L1504*	probably null	Het
Iars1	A	G	13: 49,878,172 (GRCm39)	M899V	probably benign	Het
Il1rl1	T	A	1: 40,481,463 (GRCm39)		probably benign	Het
Kcna4	T	C	2: 107,126,963 (GRCm39)	Y566H	possibly damaging	Het
Kcnn2	T	C	18: 45,694,340 (GRCm39)	I175T	probably damaging	Het
Kcnt1	C	T	2: 25,791,877 (GRCm39)	T609I	probably damaging	Het
Kif3b	A	G	2: 153,159,194 (GRCm39)	R332G	probably damaging	Het
Mansc1	T	C	6: 134,598,800 (GRCm39)	D39G	probably damaging	Het
Med12	T	C	X: 100,331,948 (GRCm39)		probably benign	Het
Mmp1b	G	T	9: 7,384,935 (GRCm39)	T238K	probably benign	Het
Nav3	A	G	10: 109,594,897 (GRCm39)	S1435P	probably damaging	Het
Npc1l1	A	G	11: 6,178,157 (GRCm39)	S418P	probably benign	Het
Or14j1	T	C	17: 38,146,832 (GRCm39)	V314A	probably benign	Het
Or2ab1	T	C	11: 58,488,408 (GRCm39)	V62A	possibly damaging	Het
Or3a1b	A	G	11: 74,012,113 (GRCm39)		probably benign	Het
Or52a24	A	G	7: 103,381,676 (GRCm39)	Y181C	probably damaging	Het
Or52h1	A	C	7: 103,829,432 (GRCm39)	M61R	probably damaging	Het
Or6ae1	G	T	7: 139,742,607 (GRCm39)	D85E	probably benign	Het
Or8b3b	T	C	9: 38,584,711 (GRCm39)	T23A	probably damaging	Het
Otoa	A	G	7: 120,721,247 (GRCm39)	T421A	probably benign	Het
Otulin	G	A	15: 27,608,823 (GRCm39)	A42V	probably damaging	Het
Pcdhb1	T	A	18: 37,398,838 (GRCm39)	V263E	probably benign	Het
Phip	A	T	9: 82,775,423 (GRCm39)	V1053D	probably damaging	Het
Pkd1	G	A	17: 24,794,901 (GRCm39)	R2196H	probably benign	Het
Plin4	T	A	17: 56,409,131 (GRCm39)	Q1363L	probably damaging	Het
Pp2d1	C	A	17: 53,814,949 (GRCm39)	V592L	probably damaging	Het
Pramel51	T	C	12: 88,145,242 (GRCm39)	D28G	possibly damaging	Het
Prkdc	T	G	16: 15,535,048 (GRCm39)	M1649R	probably benign	Het
Ptk2b	T	C	14: 66,450,931 (GRCm39)	K12E	probably benign	Het
Rars2	G	A	4: 34,657,219 (GRCm39)	V522I	probably damaging	Het
Rpgrip1	T	A	14: 52,384,831 (GRCm39)	N646K	possibly damaging	Het
Sars2	A	G	7: 28,451,950 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,384,316 (GRCm39)	T227A	possibly damaging	Het
Smc1b	T	C	15: 84,982,186 (GRCm39)	T703A	probably benign	Het
Stk32a	G	T	18: 43,446,572 (GRCm39)	D341Y	probably benign	Het
Thap11	T	C	8: 106,582,546 (GRCm39)	V185A	possibly damaging	Het
Ttll10	C	A	4: 156,132,890 (GRCm39)	V65F	probably benign	Het
Ube2q1	T	A	3: 89,687,769 (GRCm39)	N111K	possibly damaging	Het
Upf2	C	A	2: 6,031,134 (GRCm39)		probably benign	Het
Utp25	A	T	1: 192,800,586 (GRCm39)	D411E	probably benign	Het
Vasp	T	A	7: 18,991,637 (GRCm39)		probably benign	Het
Vmn2r104	C	T	17: 20,262,056 (GRCm39)	W358*	probably null	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Wdfy3	C	T	5: 102,046,376 (GRCm39)	G1826R	possibly damaging	Het
Wdr7	T	A	18: 63,910,616 (GRCm39)	Y669*	probably null	Het
Wdr72	T	A	9: 74,189,011 (GRCm39)		probably benign	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
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
R8506:Pfkfb4	UTSW	9	108,834,667 (GRCm39)	missense	possibly damaging	0.80

Posted On

2015-04-16