Mutagenetix > Incidental Mutation

Incidental Mutation 'R5891:Pfkm'

457214

Institutional Source

Beutler Lab

Gene Symbol

Pfkm

Ensembl Gene

ENSMUSG00000033065

Gene Name

phosphofructokinase, muscle

Synonyms

PFK-A, Pfk4, Pfk-4, Pfkx, PFK-M

MMRRC Submission

044092-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.863) question?

Stock #

R5891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97990470-98030328 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 98020571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 233 (C233*)

Ref Sequence

ENSEMBL: ENSMUSP00000155809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051226] [ENSMUST00000163507] [ENSMUST00000229280] [ENSMUST00000229344] [ENSMUST00000230445]

AlphaFold

P47857

Predicted Effect

probably null
Transcript: ENSMUST00000051226
AA Change: C233*

SMART Domains

Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: C233*

Domain	Start	End	E-Value	Type
Pfam:PFK	17	324	1.3e-111	PFAM
Pfam:PFK	402	687	1e-93	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000163507
AA Change: C233*

SMART Domains

Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: C233*

Domain	Start	End	E-Value	Type
Pfam:PFK	16	326	2.9e-138	PFAM
Pfam:PFK	401	688	1.8e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229280

Predicted Effect

probably benign
Transcript: ENSMUST00000229344

Predicted Effect

probably null
Transcript: ENSMUST00000230445
AA Change: C233*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

96% (85/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal glucose homeostasis. Mice homozygous for a knock-out allele exhibit premature death, exercise intolerance, abnormal glucose homeostasis, cardiomegaly, splenomegaly, and abnormal muscle morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,426,496 (GRCm39)	T504S	probably damaging	Het
Adamtsl4	C	A	3: 95,589,623 (GRCm39)	R387L	possibly damaging	Het
Adgb	G	A	10: 10,253,591 (GRCm39)	Q1224*	probably null	Het
Ankrd40	T	A	11: 94,225,689 (GRCm39)	F240Y	probably damaging	Het
Asnsd1	A	T	1: 53,387,136 (GRCm39)	Y164N	probably benign	Het
Atf7ip	A	T	6: 136,536,975 (GRCm39)	E69D	possibly damaging	Het
Atm	T	C	9: 53,408,459 (GRCm39)	T1129A	probably benign	Het
Atosa	C	G	9: 74,911,668 (GRCm39)	C46W	probably damaging	Het
AU021092	T	C	16: 5,029,995 (GRCm39)	D340G	probably benign	Het
Baz2a	T	A	10: 127,957,191 (GRCm39)	I978N	probably damaging	Het
BC034090	T	C	1: 155,108,793 (GRCm39)		probably benign	Het
Bcl9	A	G	3: 97,116,204 (GRCm39)	L830P	probably damaging	Het
Bicral	T	C	17: 47,112,155 (GRCm39)	N1015S	probably benign	Het
Ccdc9b	T	A	2: 118,591,864 (GRCm39)	D92V	probably damaging	Het
Ceacam3	C	A	7: 16,885,718 (GRCm39)	T107N	probably damaging	Het
Cep83	T	C	10: 94,561,537 (GRCm39)	V109A	probably benign	Het
Ces1e	A	G	8: 93,929,894 (GRCm39)	V463A	possibly damaging	Het
Ciao1	A	G	2: 127,089,054 (GRCm39)	V55A	probably benign	Het
Col19a1	T	C	1: 24,328,806 (GRCm39)	E900G	probably damaging	Het
Commd3	A	G	2: 18,678,626 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,872 (GRCm39)	I157T	probably damaging	Het
Cplane1	A	G	15: 8,218,073 (GRCm39)	I828V	probably benign	Het
Ctso	T	A	3: 81,861,561 (GRCm39)	F311L	probably benign	Het
Cxcl10	A	G	5: 92,496,083 (GRCm39)		probably benign	Het
Daam1	C	A	12: 71,990,923 (GRCm39)	T179N	unknown	Het
Ddx24	T	C	12: 103,390,317 (GRCm39)	K225E	probably damaging	Het
Dnajc16	T	C	4: 141,502,703 (GRCm39)	T278A	probably benign	Het
Dnajc2	A	T	5: 21,966,709 (GRCm39)	N345K	possibly damaging	Het
Dnpep	G	T	1: 75,288,456 (GRCm39)	Q395K	probably benign	Het
Dync1h1	T	C	12: 110,580,654 (GRCm39)		probably null	Het
Exoc1	A	G	5: 76,689,991 (GRCm39)	D177G	probably damaging	Het
Fam135b	C	T	15: 71,397,652 (GRCm39)	R136H	probably damaging	Het
Filip1	T	G	9: 79,727,142 (GRCm39)	L492F	possibly damaging	Het
Flvcr2	A	T	12: 85,843,002 (GRCm39)	I359F	possibly damaging	Het
Gmcl1	A	G	6: 86,684,425 (GRCm39)	W366R	probably damaging	Het
Htt	A	G	5: 35,028,167 (GRCm39)	T1808A	possibly damaging	Het
Ighv5-4	C	A	12: 113,561,249 (GRCm39)	R57L	probably damaging	Het
Il12rb2	A	T	6: 67,337,674 (GRCm39)	I69N	probably damaging	Het
Irf5	A	T	6: 29,529,424 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 65,025,854 (GRCm39)		probably null	Het
Klkb1	T	A	8: 45,723,703 (GRCm39)	T571S	probably benign	Het
Mapkbp1	G	T	2: 119,854,413 (GRCm39)	E1337*	probably null	Het
Met	A	G	6: 17,491,538 (GRCm39)	D100G	probably benign	Het
Mgam	T	A	6: 40,721,282 (GRCm39)	D183E	probably benign	Het
Mrgprb13	T	C	7: 47,962,007 (GRCm39)		noncoding transcript	Het
Mrgprx2	T	C	7: 48,131,994 (GRCm39)	T275A	probably benign	Het
Mroh2a	C	A	1: 88,169,337 (GRCm39)	Q671K	possibly damaging	Het
Nckipsd	T	A	9: 108,685,808 (GRCm39)	S42R	probably damaging	Het
Nlrp12	T	A	7: 3,267,933 (GRCm39)		probably benign	Het
Or12j2	C	T	7: 139,916,513 (GRCm39)	T246I	probably benign	Het
Or12k8	T	A	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or4k47	A	T	2: 111,451,778 (GRCm39)	L214M	probably damaging	Het
Or5p5	C	T	7: 107,414,387 (GRCm39)	P199S	probably damaging	Het
Otoa	T	A	7: 120,731,583 (GRCm39)		probably null	Het
Pikfyve	A	G	1: 65,241,896 (GRCm39)	Y212C	probably damaging	Het
Ptprq	T	A	10: 107,412,756 (GRCm39)	D1781V	possibly damaging	Het
Pttg1ip	A	G	10: 77,418,274 (GRCm39)		probably benign	Het
Rab6a	T	A	7: 100,288,454 (GRCm39)		probably null	Het
Rbm11	C	T	16: 75,395,725 (GRCm39)	A132V	possibly damaging	Het
Septin4	G	T	11: 87,479,750 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,575 (GRCm39)	E210G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slco5a1	A	G	1: 13,060,626 (GRCm39)	F32L	probably benign	Het
Smad2	A	G	18: 76,433,046 (GRCm39)	E326G	probably damaging	Het
Sp9	T	A	2: 73,104,595 (GRCm39)	L383Q	probably damaging	Het
Stx11	T	C	10: 12,817,559 (GRCm39)	N55S	probably damaging	Het
Tbc1d15	T	A	10: 115,056,213 (GRCm39)	Q253L	probably benign	Het
Tcf7l1	T	A	6: 72,614,034 (GRCm39)		probably benign	Het
Tdrd9	T	A	12: 112,009,153 (GRCm39)	S1020T	probably damaging	Het
Tead3	A	T	17: 28,560,339 (GRCm39)	D88E	probably damaging	Het
Tnrc18	A	G	5: 142,800,926 (GRCm39)	S11P	probably damaging	Homo
Trpc3	G	T	3: 36,725,171 (GRCm39)	D268E	probably damaging	Het
Ttn	A	G	2: 76,576,085 (GRCm39)	V23190A	possibly damaging	Het
Ubr4	T	A	4: 139,135,937 (GRCm39)	Y908*	probably null	Het
Urb2	G	T	8: 124,757,595 (GRCm39)	V1101L	possibly damaging	Het
Usp9y	A	T	Y: 1,341,535 (GRCm39)	D1375E	probably benign	Het
Zcchc7	T	C	4: 44,895,838 (GRCm39)	L262P	probably damaging	Het
Zdhhc7	T	A	8: 120,811,639 (GRCm39)	H188L	probably benign	Het
Zfp518a	T	A	19: 40,900,877 (GRCm39)	C269S	probably damaging	Het
Zfp933	T	C	4: 147,911,231 (GRCm39)	K90E	probably benign	Het

Other mutations in Pfkm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Pfkm	APN	15	98,023,475 (GRCm39)	missense	probably benign	0.00
IGL01843:Pfkm	APN	15	98,027,187 (GRCm39)	missense	possibly damaging	0.65
IGL02090:Pfkm	APN	15	98,021,121 (GRCm39)	critical splice donor site	probably null
IGL02624:Pfkm	APN	15	98,024,276 (GRCm39)	missense	probably benign	0.03
IGL02869:Pfkm	APN	15	98,026,123 (GRCm39)	missense	probably damaging	1.00
IGL03102:Pfkm	APN	15	98,024,266 (GRCm39)	missense	possibly damaging	0.86
IGL03164:Pfkm	APN	15	98,029,843 (GRCm39)	missense	probably damaging	1.00
IGL03188:Pfkm	APN	15	98,021,124 (GRCm39)	splice site	probably null
IGL03241:Pfkm	APN	15	98,021,061 (GRCm39)	missense	probably benign	0.02
E0374:Pfkm	UTSW	15	98,021,114 (GRCm39)	missense	probably damaging	1.00
R0379:Pfkm	UTSW	15	98,024,195 (GRCm39)	missense	probably benign	0.01
R0524:Pfkm	UTSW	15	98,029,488 (GRCm39)	missense	probably benign
R0898:Pfkm	UTSW	15	98,026,111 (GRCm39)	missense	probably benign	0.09
R1086:Pfkm	UTSW	15	98,029,546 (GRCm39)	missense	probably benign	0.05
R1698:Pfkm	UTSW	15	98,026,199 (GRCm39)	missense	possibly damaging	0.95
R1886:Pfkm	UTSW	15	98,025,627 (GRCm39)	missense	probably damaging	1.00
R2051:Pfkm	UTSW	15	98,029,573 (GRCm39)	missense	probably benign	0.03
R2102:Pfkm	UTSW	15	98,027,171 (GRCm39)	missense	probably damaging	1.00
R2312:Pfkm	UTSW	15	98,023,456 (GRCm39)	missense	probably damaging	1.00
R3154:Pfkm	UTSW	15	98,016,090 (GRCm39)	missense	probably damaging	1.00
R3688:Pfkm	UTSW	15	98,029,398 (GRCm39)	missense	probably benign	0.00
R3911:Pfkm	UTSW	15	98,022,928 (GRCm39)	missense	probably benign	0.02
R4999:Pfkm	UTSW	15	98,026,123 (GRCm39)	missense	probably damaging	1.00
R5008:Pfkm	UTSW	15	98,020,570 (GRCm39)	missense	probably benign	0.35
R5027:Pfkm	UTSW	15	98,017,307 (GRCm39)	missense	possibly damaging	0.55
R5178:Pfkm	UTSW	15	98,029,396 (GRCm39)	missense	probably benign
R5617:Pfkm	UTSW	15	98,020,107 (GRCm39)	missense	possibly damaging	0.88
R6248:Pfkm	UTSW	15	98,024,260 (GRCm39)	missense	probably damaging	1.00
R7079:Pfkm	UTSW	15	97,992,963 (GRCm39)	missense	probably benign	0.31
R7605:Pfkm	UTSW	15	98,019,191 (GRCm39)	missense	probably damaging	1.00
R7979:Pfkm	UTSW	15	98,026,117 (GRCm39)	missense	probably damaging	1.00
R8482:Pfkm	UTSW	15	98,029,864 (GRCm39)	missense	probably benign	0.05
R9065:Pfkm	UTSW	15	98,021,680 (GRCm39)	missense	probably damaging	0.96
R9178:Pfkm	UTSW	15	98,027,161 (GRCm39)	missense	probably damaging	1.00
R9221:Pfkm	UTSW	15	98,019,188 (GRCm39)	missense	probably damaging	1.00
RF010:Pfkm	UTSW	15	98,027,674 (GRCm39)	missense	possibly damaging	0.78
X0020:Pfkm	UTSW	15	98,010,107 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGAATGAAATGCTGGGTCC -3'
(R):5'- TCGATGGCACCTTCAGCAAC -3'

Sequencing Primer
(F):5'- AAATGCTGGGTCCCTGTGTCC -3'
(R):5'- TGGCACCTTCAGCAACAATGATG -3'

Posted On

2017-02-15