Mutagenetix > Incidental Mutation

Incidental Mutation 'R2102:Pfkm'

230624

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

040106-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R2102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97990470-98030328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98027171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 615 (K615E)

Ref Sequence

ENSEMBL: ENSMUSP00000155809 (fasta)

Gene Model

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

AlphaFold

P47857

Predicted Effect

probably damaging
Transcript: ENSMUST00000051226
AA Change: K615E

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

SMART Domains

Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: K615E

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: K615E

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

SMART Domains

Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: K615E

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: K615E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,770,934 (GRCm39)	L41P	probably damaging	Het
Abca8a	G	T	11: 109,958,878 (GRCm39)	P749T	probably damaging	Het
Acad8	A	T	9: 26,896,861 (GRCm39)	Y199*	probably null	Het
Acot12	A	T	13: 91,908,096 (GRCm39)	I93L	probably benign	Het
Acsbg3	T	A	17: 57,191,949 (GRCm39)	Y542*	probably null	Het
Actn1	C	A	12: 80,230,291 (GRCm39)	R321L	probably benign	Het
Ap3s1	A	G	18: 46,887,469 (GRCm39)	E34G	possibly damaging	Het
Armh4	A	G	14: 50,011,459 (GRCm39)	Y83H	probably damaging	Het
Atp5f1a	T	C	18: 77,870,017 (GRCm39)	S533P	probably damaging	Het
Bcorl1	T	C	X: 47,458,081 (GRCm39)	V538A	probably benign	Het
Cdhr4	A	G	9: 107,875,206 (GRCm39)	T689A	probably damaging	Het
Cdk19	A	T	10: 40,355,726 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,928,554 (GRCm39)	P923Q	probably damaging	Het
Cpt1a	T	C	19: 3,421,585 (GRCm39)	S456P	probably benign	Het
Cst11	T	C	2: 148,613,160 (GRCm39)	Y55C	probably damaging	Het
Ctif	T	G	18: 75,654,452 (GRCm39)	D358A	probably benign	Het
Cyp2d34	T	G	15: 82,500,974 (GRCm39)	E386A	probably benign	Het
Dcxr	A	G	11: 120,617,133 (GRCm39)	F104L	probably benign	Het
Dmbt1	G	T	7: 130,703,762 (GRCm39)	W1107C	probably damaging	Het
Dsg1a	A	T	18: 20,466,830 (GRCm39)	I567F	probably damaging	Het
Ednrb	T	A	14: 104,058,350 (GRCm39)	R318*	probably null	Het
Exd2	T	C	12: 80,527,377 (GRCm39)	I36T	possibly damaging	Het
Fam83b	A	T	9: 76,399,987 (GRCm39)	I372N	probably damaging	Het
Fbh1	A	G	2: 11,763,100 (GRCm39)	V518A	probably benign	Het
Fkbp5	T	C	17: 28,625,162 (GRCm39)	E308G	possibly damaging	Het
Foxl2	A	C	9: 98,838,282 (GRCm39)	Y190S	probably damaging	Het
Gab3	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 74,043,585 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 131,114,831 (GRCm39)	R223Q	probably damaging	Het
Gm14496	G	A	2: 181,633,127 (GRCm39)	D37N	possibly damaging	Het
Gpr82	T	C	X: 13,532,274 (GRCm39)	V274A	probably benign	Het
Hsp90aa1	T	C	12: 110,660,566 (GRCm39)	N292S	probably damaging	Het
Ints1	C	T	5: 139,741,754 (GRCm39)	V1826M	possibly damaging	Het
Itgb4	A	G	11: 115,896,561 (GRCm39)	D1440G	probably benign	Het
Kdm3b	A	G	18: 34,963,200 (GRCm39)	D1552G	probably damaging	Het
Kel	G	A	6: 41,663,418 (GRCm39)	T702I	possibly damaging	Het
Klf3	T	C	5: 64,979,266 (GRCm39)	V36A	probably damaging	Het
Klhl23	A	T	2: 69,659,228 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	T	7: 139,510,674 (GRCm39)	I1329L	probably benign	Het
Krtap2-4	T	C	11: 99,505,606 (GRCm39)		probably benign	Het
Krtap9-5	T	A	11: 99,840,270 (GRCm39)	C324S	unknown	Het
Lepr	T	C	4: 101,630,178 (GRCm39)	V631A	possibly damaging	Het
Lifr	T	C	15: 7,216,404 (GRCm39)	I793T	probably damaging	Het
Mcoln1	G	A	8: 3,561,731 (GRCm39)	R427H	probably damaging	Het
Mgat5b	G	A	11: 116,810,255 (GRCm39)		probably benign	Het
Mmp12	G	A	9: 7,349,802 (GRCm39)	V78M	probably damaging	Het
Mrgprb8	T	A	7: 48,038,634 (GRCm39)	L102M	possibly damaging	Het
Mybphl	A	G	3: 108,282,949 (GRCm39)	T246A	possibly damaging	Het
Myo7b	A	T	18: 32,133,031 (GRCm39)	F439L	probably damaging	Het
Myom1	A	T	17: 71,408,024 (GRCm39)	D1088V	probably damaging	Het
Nrcam	T	C	12: 44,623,471 (GRCm39)	F1004S	probably benign	Het
Palld	A	T	8: 61,986,467 (GRCm39)	M788K	possibly damaging	Het
Pappa	T	A	4: 65,234,465 (GRCm39)	Y1423*	probably null	Het
Pkd1l2	G	T	8: 117,808,208 (GRCm39)	D105E	probably damaging	Het
Plekha5	G	A	6: 140,518,603 (GRCm39)	A297T	probably damaging	Het
Plxnb1	T	A	9: 108,944,810 (GRCm39)	M2051K	probably damaging	Het
Ppp6r2	A	G	15: 89,162,949 (GRCm39)	T524A	probably damaging	Het
Psg26	T	C	7: 18,209,067 (GRCm39)	E447G	probably damaging	Het
Rab3gap2	A	G	1: 185,014,586 (GRCm39)	D1225G	probably benign	Het
Rep15	A	G	6: 146,934,403 (GRCm39)		probably null	Het
Rgl2	G	A	17: 34,152,314 (GRCm39)		probably null	Het
Rpl7a	T	G	2: 26,801,473 (GRCm39)	V55G	possibly damaging	Het
Rtp1	A	T	16: 23,250,108 (GRCm39)	I158F	probably benign	Het
Scaper	A	T	9: 55,819,334 (GRCm39)	V127E	probably benign	Het
Sele	T	A	1: 163,881,395 (GRCm39)	C501S	probably damaging	Het
Serpina11	C	T	12: 103,949,104 (GRCm39)	V358I	probably benign	Het
Slc16a4	A	G	3: 107,211,819 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,055,656 (GRCm39)	I82V	probably benign	Het
Smarca5	T	C	8: 81,431,304 (GRCm39)	E971G	probably damaging	Het
Smr2	T	C	5: 88,256,595 (GRCm39)	L91P	probably damaging	Het
Spata31f3	T	A	4: 42,868,558 (GRCm39)	H355L	probably benign	Het
Spopfm2	A	T	3: 94,082,973 (GRCm39)	C279*	probably null	Het
Srrm2	A	G	17: 24,036,722 (GRCm39)		probably benign	Het
Sting1	A	T	18: 35,868,290 (GRCm39)	M270K	probably damaging	Het
Syne1	A	G	10: 5,006,514 (GRCm39)	W7980R	probably damaging	Het
Syne2	A	G	12: 76,074,853 (GRCm39)	T4598A	probably benign	Het
Tmem171	A	T	13: 98,828,851 (GRCm39)	F100I	probably damaging	Het
Tnfrsf10b	A	G	14: 70,013,546 (GRCm39)	T159A	probably benign	Het
Tph1	A	T	7: 46,309,834 (GRCm39)		probably null	Het
Trim46	A	T	3: 89,142,504 (GRCm39)	I638N	probably damaging	Het
Ubl7	G	A	9: 57,827,825 (GRCm39)	D171N	probably damaging	Het
Utp20	A	G	10: 88,608,779 (GRCm39)	Y1514H	probably damaging	Het
Vmn2r81	A	G	10: 79,129,334 (GRCm39)	I742V	probably damaging	Het
Xrcc2	A	T	5: 25,897,505 (GRCm39)	V148E	probably damaging	Het
Zbed3	A	G	13: 95,472,615 (GRCm39)	D13G	possibly damaging	Het
Zdhhc25	T	A	15: 88,484,962 (GRCm39)	L99Q	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
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
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'- AAACATACAATCAGGGAAGCTTCTC -3'
(R):5'- AGAGGACAGGCTGTTTCACTC -3'

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

Posted On

2014-09-18