Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02506:Pfkfb4'

296344

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 #

IGL02506

Quality Score

Status

Chromosome

Chromosomal Location

108991778-109032228 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109030336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 437 (D437V)

Ref Sequence

ENSEMBL: ENSMUSP00000057197 (fasta)

Gene Model

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

AlphaFold

Q6DTY7

Predicted Effect

probably benign
Transcript: ENSMUST00000051873
AA Change: D437V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648
AA Change: D437V

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
AA Change: D453V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648
AA Change: D453V

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,692,488	E189G	possibly damaging	Het
Acad11	T	C	9: 104,091,732		probably null	Het
Adcy7	G	T	8: 88,317,943	R488L	probably damaging	Het
Akt1	C	T	12: 112,659,280		probably benign	Het
Ano9	C	T	7: 141,102,254		probably benign	Het
Arhgap15	A	G	2: 44,063,808	D182G	possibly damaging	Het
Asxl3	T	A	18: 22,452,399	V127D	probably benign	Het
Cacna1g	A	G	11: 94,429,129	M1407T	probably damaging	Het
Card9	A	C	2: 26,354,415		probably benign	Het
Cdh5	A	G	8: 104,137,822	N472D	probably damaging	Het
Ceacam2	T	A	7: 25,527,954	T343S	probably benign	Het
Cic	T	A	7: 25,290,857	C1928S	probably benign	Het
Clk3	C	T	9: 57,754,644	W31*	probably null	Het
Cntn4	A	G	6: 106,618,388	T489A	probably benign	Het
Crispld1	G	A	1: 17,756,305	R431H	probably damaging	Het
Crmp1	T	A	5: 37,278,855		probably benign	Het
Cyld	A	G	8: 88,729,590	T423A	possibly damaging	Het
Cyp3a44	A	T	5: 145,799,388	I84N	probably damaging	Het
D2hgdh	A	G	1: 93,829,785	N141D	probably damaging	Het
Dip2b	T	A	15: 100,157,281	L341Q	probably damaging	Het
F3	C	T	3: 121,731,674	T53I	possibly damaging	Het
Fam227b	T	A	2: 126,003,911	Y386F	probably benign	Het
Fmn1	A	T	2: 113,525,295	T694S	unknown	Het
Gcnt2	T	A	13: 40,887,380	V5E	probably benign	Het
Herpud1	G	T	8: 94,394,642	E355*	probably null	Het
Igf1r	T	C	7: 68,193,396	S752P	probably benign	Het
Iqsec1	T	C	6: 90,672,075	I687V	possibly damaging	Het
Kdm5a	T	C	6: 120,432,149	S1598P	probably damaging	Het
Klk9	A	G	7: 43,795,639	E185G	probably benign	Het
Myo16	G	T	8: 10,390,217	R423L	probably damaging	Het
Myo7b	T	C	18: 31,967,154	E1609G	probably damaging	Het
Nom1	T	A	5: 29,439,816		probably benign	Het
Nomo1	A	G	7: 46,078,056	I1040V	possibly damaging	Het
Olfr887	G	A	9: 38,085,445	G203D	probably damaging	Het
Paqr9	T	C	9: 95,560,695	V246A	probably benign	Het
Phldb1	G	T	9: 44,710,926	D797E	probably benign	Het
Pkd1l3	A	G	8: 109,647,500	E1399G	probably damaging	Het
Plekhs1	G	A	19: 56,471,766	C97Y	probably damaging	Het
Plscr4	A	T	9: 92,489,991	I272L	possibly damaging	Het
Prlhr	A	C	19: 60,467,928	Y67D	probably damaging	Het
Rab3gap2	A	G	1: 185,252,024		probably benign	Het
Rad23b	T	C	4: 55,382,511	V238A	probably benign	Het
Sel1l2	T	C	2: 140,275,460	T164A	possibly damaging	Het
Serpinh1	T	A	7: 99,346,992	K295M	probably damaging	Het
Slc45a4	T	C	15: 73,581,838	E770G	probably benign	Het
Spag4	T	C	2: 156,069,222	L390P	probably damaging	Het
Stip1	A	G	19: 7,035,489		probably benign	Het
Tacr1	A	G	6: 82,403,758	N50S	probably damaging	Het
Tg	T	C	15: 66,741,594	V433A	possibly damaging	Het
Ubap1l	T	A	9: 65,369,211		probably benign	Het
Usp40	A	T	1: 87,982,016	I572K	probably damaging	Het
Vps13b	G	T	15: 35,917,162	E3717D	probably damaging	Het
Wdr81	T	C	11: 75,444,406	N1778S	probably benign	Het
Ylpm1	T	A	12: 85,049,191	F1162Y	probably damaging	Het
Zbtb10	T	A	3: 9,265,237	F552I	probably damaging	Het
Zfp507	T	C	7: 35,776,466	I811V	probably damaging	Het
Zfp663	A	T	2: 165,353,951	V116D	probably benign	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
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
R0087:Pfkfb4	UTSW	9	109007701	missense	probably damaging	1.00
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	splice site	probably null
R6873:Pfkfb4	UTSW	9	109010335	splice site	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
R7973:Pfkfb4	UTSW	9	109025111	missense	probably damaging	1.00
R8506:Pfkfb4	UTSW	9	109005599	missense	possibly damaging	0.80

Posted On

2015-04-16