Mutagenetix > Incidental Mutation

Incidental Mutation 'R9178:Pfkm'

696857

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

068978-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R9178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97990470-98030328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98027161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 611 (H611Q)

Ref Sequence

ENSEMBL: ENSMUSP00000059801 (fasta)

Gene Model

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

AlphaFold

P47857

Predicted Effect

probably damaging
Transcript: ENSMUST00000051226
AA Change: H611Q

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

SMART Domains

Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: H611Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000163507
AA Change: H611Q

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

SMART Domains

Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: H611Q

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 damaging
Transcript: ENSMUST00000230445
AA Change: H611Q

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

Meta Mutation Damage Score

0.2871

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,880,992 (GRCm39)	T146S	unknown	Het
Abca8b	A	T	11: 109,840,937 (GRCm39)	F1079I	probably benign	Het
Adcy10	A	T	1: 165,403,218 (GRCm39)	Q1572L	possibly damaging	Het
Akna	T	C	4: 63,312,846 (GRCm39)	T426A	possibly damaging	Het
Alkbh8	A	G	9: 3,338,448 (GRCm39)		probably benign	Het
Apc2	G	A	10: 80,150,235 (GRCm39)	G1763E	probably benign	Het
Bmp1	G	T	14: 70,727,613 (GRCm39)	R657S	possibly damaging	Het
Calm1	G	A	12: 100,171,979 (GRCm39)		probably null	Het
Ccdc150	C	A	1: 54,311,644 (GRCm39)	A210E	probably damaging	Het
Cdc42bpa	T	C	1: 179,958,401 (GRCm39)	I275T		Het
Cfap54	G	T	10: 92,830,579 (GRCm39)	Q1186K	probably benign	Het
Col6a6	A	G	9: 105,659,169 (GRCm39)	V592A	probably benign	Het
Colec11	A	T	12: 28,644,854 (GRCm39)	N213K	possibly damaging	Het
Dennd2b	C	T	7: 109,156,291 (GRCm39)	G153D	probably benign	Het
Dennd5b	G	A	6: 148,934,844 (GRCm39)	R676*	probably null	Het
Dnaaf5	T	G	5: 139,138,652 (GRCm39)	Y278D	probably damaging	Het
Dop1a	T	A	9: 86,371,796 (GRCm39)	Y162*	probably null	Het
Dync1li2	A	G	8: 105,150,255 (GRCm39)	L369P	possibly damaging	Het
Ebf1	A	G	11: 44,883,276 (GRCm39)	T505A	probably benign	Het
Ebf1	A	G	11: 44,895,548 (GRCm39)	I584M	probably benign	Het
Eif1ad17	A	G	12: 87,978,786 (GRCm39)	R57G	probably damaging	Het
Frmpd1	T	C	4: 45,285,367 (GRCm39)	L1396P	probably damaging	Het
Gart	A	T	16: 91,430,904 (GRCm39)	V386D	possibly damaging	Het
Gprin1	C	T	13: 54,885,601 (GRCm39)	R891H	probably damaging	Het
Gsap	G	A	5: 21,422,471 (GRCm39)	V147I	probably damaging	Het
Gsc	G	T	12: 104,439,120 (GRCm39)	Y85*	probably null	Het
Gtf2a1l	A	G	17: 88,976,152 (GRCm39)	N5S		Het
Hmcn2	T	C	2: 31,281,521 (GRCm39)	V1912A	possibly damaging	Het
Icos	G	T	1: 61,034,714 (GRCm39)	S179I	probably damaging	Het
Ifi209	T	C	1: 173,464,969 (GRCm39)	L33P	probably damaging	Het
Igsf10	A	G	3: 59,233,480 (GRCm39)	I1751T	possibly damaging	Het
Il31ra	T	C	13: 112,677,780 (GRCm39)	Y252C	probably damaging	Het
Ints6	A	T	14: 62,947,036 (GRCm39)	S310T	probably damaging	Het
Kcng1	A	T	2: 168,111,105 (GRCm39)	S20T	possibly damaging	Het
Klf15	T	C	6: 90,444,091 (GRCm39)	I222T	probably damaging	Het
Lmo7	A	T	14: 102,044,906 (GRCm39)	K53*	probably null	Het
Map10	C	A	8: 126,397,649 (GRCm39)	N347K	probably damaging	Het
Mrps11	C	A	7: 78,440,444 (GRCm39)	T111K	probably damaging	Het
Myom3	T	G	4: 135,506,710 (GRCm39)	D494E	probably benign	Het
Naalad2	T	A	9: 18,242,152 (GRCm39)	Y584F	probably damaging	Het
Ndufa9	A	G	6: 126,826,050 (GRCm39)	V9A	probably benign	Het
Nrcam	G	T	12: 44,615,329 (GRCm39)	V640F	possibly damaging	Het
Or10x4	C	T	1: 174,219,229 (GRCm39)	T198I	probably benign	Het
Or2t48	C	A	11: 58,420,473 (GRCm39)	G113V	probably damaging	Het
Or52d1	T	C	7: 103,755,720 (GRCm39)	M78T	probably benign	Het
Or5ak23	G	A	2: 85,244,848 (GRCm39)	A125V	probably damaging	Het
Pcdhga8	T	A	18: 37,860,892 (GRCm39)	H649Q	probably benign	Het
Pdk1	C	A	2: 71,730,402 (GRCm39)	H413Q	probably benign	Het
Polr3g	T	C	13: 81,842,535 (GRCm39)	Y160C	unknown	Het
Ppargc1b	A	T	18: 61,443,993 (GRCm39)	M406K	probably benign	Het
Ptf1a	C	T	2: 19,450,536 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,295,264 (GRCm39)	C251S	possibly damaging	Het
Rnf32	A	G	5: 29,411,211 (GRCm39)	T166A	possibly damaging	Het
Sav1	A	T	12: 70,022,790 (GRCm39)	V254E	probably damaging	Het
Sel1l	T	C	12: 91,797,526 (GRCm39)	N234D	probably benign	Het
Setd1a	C	T	7: 127,385,590 (GRCm39)	P766S	possibly damaging	Het
Skida1	T	A	2: 18,050,489 (GRCm39)	K801*	probably null	Het
Slc22a5	G	A	11: 53,774,547 (GRCm39)	T146I	probably benign	Het
Slc25a24	G	T	3: 109,064,268 (GRCm39)	A206S	possibly damaging	Het
Slc39a6	G	A	18: 24,733,970 (GRCm39)	R240W	probably damaging	Het
Ssc5d	T	A	7: 4,930,058 (GRCm39)	D46E	probably damaging	Het
Tekt4	C	T	17: 25,690,901 (GRCm39)	A69V	possibly damaging	Het
Tmigd1	T	A	11: 76,804,878 (GRCm39)	F239Y	probably benign	Het
Tpp1	T	A	7: 105,400,846 (GRCm39)	R60S	probably benign	Het
Trank1	A	T	9: 111,196,268 (GRCm39)	I1431F	probably damaging	Het
Trav15-1-dv6-1	G	T	14: 53,797,519 (GRCm39)	W56L	probably damaging	Het
Ugt2b38	A	G	5: 87,568,396 (GRCm39)	S300P	probably damaging	Het
Urah	T	A	7: 140,417,587 (GRCm39)	L119Q	unknown	Het
Uspl1	T	A	5: 149,141,148 (GRCm39)	F382L	probably damaging	Het
Vps9d1	T	A	8: 123,975,574 (GRCm39)	Q157L	probably damaging	Het
Wbp1l	G	A	19: 46,640,933 (GRCm39)	V88I	probably benign	Het
Zfp444	T	C	7: 6,191,157 (GRCm39)	S113P	probably damaging	Het
Zfp580	T	G	7: 5,056,152 (GRCm39)	S171A	possibly damaging	Het
Zfp607a	A	G	7: 27,577,382 (GRCm39)	I151V	probably benign	Het
Zfp827	T	C	8: 79,818,564 (GRCm39)	F614S	probably damaging	Het
Zic4	A	T	9: 91,260,913 (GRCm39)	Q56L	possibly damaging	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
R5891:Pfkm	UTSW	15	98,020,571 (GRCm39)	nonsense	probably null
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
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'- AAACATACAATCAGGGAAGCTTCTC -3'
(R):5'- AGAGGACAGGCTGTTTCACTC -3'

Sequencing Primer
(F):5'- AGGGAAGCTTCTCTGATGATTCCTC -3'
(R):5'- GGACAGGCTGTTTCACTCCTCTC -3'

Posted On

2022-02-07