Mutagenetix > Incidental Mutation

Incidental Mutation 'R0379:Pfkm'

30901

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

038585-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R0379 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

97990470-98030328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98024195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 401 (H401R)

Ref Sequence

ENSEMBL: ENSMUSP00000155809 (fasta)

Gene Model

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

AlphaFold

P47857

Predicted Effect

probably benign
Transcript: ENSMUST00000051226
AA Change: H401R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: H401R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163507
AA Change: H401R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: H401R

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: ENSMUST00000230445
AA Change: H401R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.1210

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

98% (79/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	G	11: 11,539,365 (GRCm39)		probably benign	Het
Apba1	A	C	19: 23,912,194 (GRCm39)	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,702,320 (GRCm39)		probably null	Het
Arsb	T	C	13: 94,077,135 (GRCm39)	S501P	probably benign	Het
Atp10b	A	G	11: 43,145,141 (GRCm39)	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898 (GRCm39)	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,789 (GRCm39)	I126T	possibly damaging	Het
Brd9	T	C	13: 74,090,802 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,430 (GRCm39)		probably benign	Het
Chd5	A	G	4: 152,467,778 (GRCm39)	K1692R	probably benign	Het
Clcn4	T	C	7: 7,299,791 (GRCm39)	T13A	probably damaging	Het
Clec14a	A	G	12: 58,315,580 (GRCm39)	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,768,440 (GRCm39)	V97A	probably benign	Het
Col24a1	G	A	3: 145,229,897 (GRCm39)	R1483K	possibly damaging	Het
Crem	A	T	18: 3,299,226 (GRCm39)	V82D	probably damaging	Het
Ctnna2	T	A	6: 77,618,423 (GRCm39)	T180S	probably benign	Het
Cybrd1	T	C	2: 70,960,099 (GRCm39)	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,478,671 (GRCm39)	V468M	probably damaging	Het
Dlk1	A	G	12: 109,420,985 (GRCm39)		probably benign	Het
Dnaaf9	C	T	2: 130,627,466 (GRCm39)		probably benign	Het
Dnah7b	A	T	1: 46,179,336 (GRCm39)	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,722,399 (GRCm39)	E376A	possibly damaging	Het
Etl4	T	A	2: 20,812,165 (GRCm39)	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106 (GRCm39)	T238A	probably benign	Het
Fer1l6	A	G	15: 58,420,187 (GRCm39)	I33M	probably benign	Het
Fndc3a	A	G	14: 72,794,049 (GRCm39)	S830P	probably damaging	Het
Fras1	C	T	5: 96,903,368 (GRCm39)	R3082*	probably null	Het
Galnt13	T	C	2: 54,950,504 (GRCm39)	V395A	possibly damaging	Het
Gpd2	C	T	2: 57,235,275 (GRCm39)	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,235,759 (GRCm39)		probably benign	Het
Ints5	G	T	19: 8,874,497 (GRCm39)	V819L	possibly damaging	Het
Klhdc10	C	G	6: 30,450,669 (GRCm39)	Q292E	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,566 (GRCm39)	A67T	probably benign	Het
Lrp1	T	G	10: 127,430,838 (GRCm39)	T404P	probably damaging	Het
Marchf7	T	C	2: 60,064,470 (GRCm39)	S249P	probably benign	Het
Mcm10	T	A	2: 5,013,434 (GRCm39)	K66M	probably benign	Het
Mtmr7	C	A	8: 41,004,642 (GRCm39)	D645Y	probably damaging	Het
Muc6	T	A	7: 141,216,868 (GRCm39)	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,260,121 (GRCm39)		probably benign	Het
Myo18a	G	A	11: 77,741,632 (GRCm39)	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,406,695 (GRCm39)	L957S	probably damaging	Het
Ncoa3	T	C	2: 165,896,422 (GRCm39)	S442P	probably damaging	Het
Or5t5	G	A	2: 86,616,079 (GRCm39)	E2K	probably benign	Het
Or6x1	G	A	9: 40,098,729 (GRCm39)	G106D	probably damaging	Het
Or7g32	T	A	9: 19,388,776 (GRCm39)	T257S	possibly damaging	Het
Pdcd6	G	T	13: 74,457,831 (GRCm39)	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 108,856,810 (GRCm39)		probably benign	Het
Phldb2	C	A	16: 45,601,814 (GRCm39)	D754Y	probably damaging	Het
Plekhb2	T	A	1: 34,902,195 (GRCm39)	M49K	probably damaging	Het
Polrmt	A	G	10: 79,573,445 (GRCm39)	S1057P	possibly damaging	Het
Prps1l1	A	G	12: 35,035,077 (GRCm39)	N64S	probably benign	Het
Prss3l	T	G	6: 41,422,190 (GRCm39)		probably benign	Het
Psg16	T	C	7: 16,864,583 (GRCm39)	S393P	probably benign	Het
Rundc1	C	T	11: 101,315,973 (GRCm39)	T15I	probably benign	Het
Scaf11	A	G	15: 96,329,697 (GRCm39)	L143S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpinf1	T	G	11: 75,304,771 (GRCm39)	I197L	probably benign	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Slc28a1	G	A	7: 80,787,925 (GRCm39)	V271I	probably benign	Het
Sntg1	T	C	1: 8,853,048 (GRCm39)	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,059,161 (GRCm39)		probably benign	Het
Suclg1	T	C	6: 73,233,211 (GRCm39)	I51T	possibly damaging	Het
Syne1	C	T	10: 5,491,989 (GRCm39)	R9Q	probably damaging	Het
Trim47	T	A	11: 115,997,344 (GRCm39)	H470L	probably damaging	Het
Ttc41	T	A	10: 86,548,841 (GRCm39)	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 139,612,105 (GRCm39)	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,691,116 (GRCm39)	T474M	probably damaging	Het
Ubr5	A	T	15: 38,019,201 (GRCm39)	N777K	probably benign	Het
Ush2a	T	C	1: 188,184,016 (GRCm39)	L1440P	probably damaging	Het
Usp28	A	C	9: 48,935,367 (GRCm39)	D458A	possibly damaging	Het
Vcan	A	T	13: 89,851,665 (GRCm39)	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,490,773 (GRCm39)	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,434,344 (GRCm39)	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,948,401 (GRCm39)	I549N	probably damaging	Het
Vps33b	T	A	7: 79,933,162 (GRCm39)		probably null	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	Het
Zfp974	T	A	7: 27,610,357 (GRCm39)	N456I	probably 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
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
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'- TGCTACATAATGATGACACCGCTGC -3'
(R):5'- AAGGCCACTTCTTGGGTTCTGATG -3'

Sequencing Primer
(F):5'- TAATGATGACACCGCTGCCTATG -3'
(R):5'- CAATATGCTTCCTGGAGAGAAGTTAG -3'

Posted On

2013-04-24