Mutagenetix > Incidental Mutation

Incidental Mutation 'R7148:Pfkfb4'

553957

Institutional Source

Beutler Lab

Gene Symbol

Pfkfb4

Ensembl Gene

ENSMUSG00000025648

Gene Name

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

Synonyms

MMRRC Submission

045225-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7148 (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 C at 108856676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 394 (V394A)

Ref Sequence

ENSEMBL: ENSMUSP00000142378 (fasta)

Gene Model

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

AlphaFold

Q6DTY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000051873
AA Change: V378A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648
AA Change: V378A

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: V394A

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

SMART Domains

Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648
AA Change: V394A

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

possibly damaging
Transcript: ENSMUST00000199591
AA Change: S387P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142992
Gene: ENSMUSG00000025648
AA Change: S387P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,110,269 (GRCm39)	Y14F	probably damaging	Het
Acly	A	G	11: 100,374,608 (GRCm39)	V805A	possibly damaging	Het
Apcdd1	T	C	18: 63,084,916 (GRCm39)	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,356,756 (GRCm39)	F127I	probably benign	Het
Ccdc138	T	C	10: 58,374,102 (GRCm39)	L374P	probably damaging	Het
Ces2b	A	G	8: 105,564,928 (GRCm39)	Y504C	probably damaging	Het
Ces5a	C	T	8: 94,228,950 (GRCm39)	G427S	probably damaging	Het
Chd1l	C	T	3: 97,498,632 (GRCm39)	V256M	probably damaging	Het
Col24a1	C	T	3: 145,021,060 (GRCm39)	T477M	probably damaging	Het
Dmbt1	T	A	7: 130,668,464 (GRCm39)	C573*	probably null	Het
Emcn	A	T	3: 137,122,855 (GRCm39)	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,048,125 (GRCm39)	M1R	probably null	Het
Fam243	T	C	16: 92,117,875 (GRCm39)	K138E	probably benign	Het
Fam83h	C	A	15: 75,877,016 (GRCm39)	D194Y	probably damaging	Het
Flywch1	T	C	17: 23,974,649 (GRCm39)	K664E	probably benign	Het
Fzd9	A	G	5: 135,278,544 (GRCm39)	V447A	probably benign	Het
Heatr5b	T	C	17: 79,138,863 (GRCm39)	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,562,605 (GRCm39)	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,901 (GRCm39)	L258Q	probably damaging	Het
Itprid1	T	C	6: 55,874,671 (GRCm39)	I207T	probably damaging	Het
Kmo	T	A	1: 175,479,168 (GRCm39)	C235S	probably damaging	Het
Lamc2	G	A	1: 153,061,730 (GRCm39)	P2S	probably benign	Het
Lman2	G	A	13: 55,500,762 (GRCm39)	P146S	probably benign	Het
Mars2	T	C	1: 55,276,673 (GRCm39)	I92T	probably damaging	Het
Msh3	A	G	13: 92,491,330 (GRCm39)	F27L	probably benign	Het
Myom2	T	C	8: 15,134,577 (GRCm39)	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,172,306 (GRCm39)	*214R	probably null	Het
Nsd2	T	C	5: 34,042,855 (GRCm39)	F1040L	possibly damaging	Het
Or1ab2	T	A	8: 72,864,001 (GRCm39)	I197N	possibly damaging	Het
Osm	T	A	11: 4,189,936 (GRCm39)	I240N	probably benign	Het
Pard3b	T	A	1: 62,479,191 (GRCm39)	D884E	probably benign	Het
Pex5	T	G	6: 124,382,231 (GRCm39)	D150A	probably benign	Het
Pjvk	A	G	2: 76,488,831 (GRCm39)	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,807,525 (GRCm39)	D171G	probably benign	Het
Prpf4b	T	G	13: 35,078,455 (GRCm39)	N688K	probably benign	Het
R3hcc1	T	C	14: 69,943,001 (GRCm39)	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,596,318 (GRCm39)	G207*	probably null	Het
Rhobtb3	G	T	13: 76,059,006 (GRCm39)	T264K	probably benign	Het
Rpl27	A	G	11: 101,333,232 (GRCm39)		probably benign	Het
Rxfp3	C	T	15: 11,036,863 (GRCm39)	V170I	possibly damaging	Het
Samd4	T	A	14: 47,254,140 (GRCm39)	S201R	probably benign	Het
Sell	A	G	1: 163,893,176 (GRCm39)	I131V	possibly damaging	Het
Semp2l2a	T	A	8: 13,887,996 (GRCm39)	I32L	probably benign	Het
Sirpb1c	A	T	3: 15,887,223 (GRCm39)	Y205*	probably null	Het
Smc3	A	T	19: 53,630,326 (GRCm39)	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,370,182 (GRCm39)	V185L	probably benign	Het
Spata4	A	C	8: 55,055,585 (GRCm39)	I159L	probably benign	Het
Spring1	A	G	5: 118,393,759 (GRCm39)	N46D	probably benign	Het
Tekt2	A	G	4: 126,216,174 (GRCm39)	I373T	probably benign	Het
Tle7	G	T	8: 110,836,048 (GRCm39)	R119I	probably benign	Het
Tomm20l	T	C	12: 71,164,313 (GRCm39)	V65A	probably benign	Het
Trabd2b	A	G	4: 114,266,547 (GRCm39)	D187G	probably damaging	Het
Trrap	A	G	5: 144,758,613 (GRCm39)	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,324,429 (GRCm39)	C440*	probably null	Het
Ube3b	A	C	5: 114,544,313 (GRCm39)	N570T	probably damaging	Het
Uevld	A	G	7: 46,600,724 (GRCm39)	I70T	probably damaging	Het
Usp10	C	T	8: 120,663,289 (GRCm39)	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,689,981 (GRCm39)	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,414,640 (GRCm39)	V601A	probably benign	Het
Wdr81	G	C	11: 75,336,828 (GRCm39)	N401K		Het
Ythdc2	G	T	18: 44,966,189 (GRCm39)	V142F	probably benign	Het
Zfp346	T	C	13: 55,253,263 (GRCm39)	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,690,358 (GRCm39)	V301M	possibly damaging	Het
Zim1	T	C	7: 6,681,220 (GRCm39)	K148E	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
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
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'- GTGTCAGGTTGTCATAAGATCAGAC -3'
(R):5'- AGGAAGCTCCCTTACCGTAAG -3'

Sequencing Primer
(F):5'- CAGGTTGTCATAAGATCAGACAGAAG -3'
(R):5'- AGCTTCAGGACTGTGTGCAAG -3'

Posted On

2019-05-15