Mutagenetix > Incidental Mutation

Incidental Mutation 'R5027:Pfkm'

391472

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

042618-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R5027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97990470-98030328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98017307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 117 (I117V)

Ref Sequence

ENSEMBL: ENSMUSP00000155453 (fasta)

Gene Model

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

AlphaFold

P47857

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051226
AA Change: I65V

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: I65V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163507
AA Change: I65V

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: I65V

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
AA Change: I65V

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229344
AA Change: I117V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230445
AA Change: I65V

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.4178

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (97/100)

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
Abca14	T	G	7: 119,911,505 (GRCm39)	I1363R	probably benign	Het
Abcc1	T	C	16: 14,221,917 (GRCm39)		probably null	Het
Adgrf1	T	A	17: 43,614,638 (GRCm39)	F241I	probably damaging	Het
Afg3l1	T	C	8: 124,216,553 (GRCm39)	M264T	probably benign	Het
Ankle1	T	C	8: 71,861,623 (GRCm39)	S434P	probably damaging	Het
Apoe	C	T	7: 19,430,940 (GRCm39)	A101T	probably damaging	Het
Apol11a	G	T	15: 77,401,153 (GRCm39)	K213N	probably damaging	Het
Asap2	A	G	12: 21,254,082 (GRCm39)	M198V	probably damaging	Het
Atg4b	C	T	1: 93,714,297 (GRCm39)	A360V	probably benign	Het
B3gnt5	T	A	16: 19,588,444 (GRCm39)	V221D	probably damaging	Het
Baz2b	A	T	2: 59,928,988 (GRCm39)		probably benign	Het
Cep350	C	A	1: 155,809,100 (GRCm39)	W492L	probably benign	Het
Cln6	A	G	9: 62,754,375 (GRCm39)	Y139C	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Cul9	C	T	17: 46,811,708 (GRCm39)	E2507K	probably damaging	Het
Dgkz	A	T	2: 91,775,888 (GRCm39)	V125D	probably benign	Het
Dnah17	T	C	11: 117,993,365 (GRCm39)	M1127V	probably benign	Het
Dnajb1	C	A	8: 84,336,732 (GRCm39)	D67E	probably benign	Het
Dync1li1	A	G	9: 114,542,612 (GRCm39)	D258G	probably damaging	Het
Egflam	G	T	15: 7,283,125 (GRCm39)	P311T	probably benign	Het
Fbxw11	T	A	11: 32,602,811 (GRCm39)		probably benign	Het
Fn3krp	T	G	11: 121,320,274 (GRCm39)	D206E	probably benign	Het
Fsip2	A	G	2: 82,819,477 (GRCm39)	H5070R	possibly damaging	Het
Gm6605	T	C	7: 38,149,683 (GRCm39)		noncoding transcript	Het
Gna14	C	A	19: 16,580,636 (GRCm39)	T158K	probably benign	Het
Gstt2	A	T	10: 75,667,726 (GRCm39)	I243N	probably damaging	Het
Haus6	C	T	4: 86,523,933 (GRCm39)	D50N	possibly damaging	Het
Hcrtr2	A	G	9: 76,230,578 (GRCm39)	I70T	probably benign	Het
Herc1	G	A	9: 66,380,811 (GRCm39)	V3563I	probably benign	Het
Herc1	A	T	9: 66,411,900 (GRCm39)	I4707F	probably damaging	Het
Hic2	C	T	16: 17,076,611 (GRCm39)	A480V	possibly damaging	Het
Hsd17b3	A	G	13: 64,210,720 (GRCm39)	Y212H	probably damaging	Het
Hspa5	A	G	2: 34,665,827 (GRCm39)	K557R	probably damaging	Het
Iqch	T	C	9: 63,432,294 (GRCm39)	E367G	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lars2	A	G	9: 123,270,560 (GRCm39)	M551V	probably benign	Het
Lbp	T	C	2: 158,150,646 (GRCm39)	I57T	possibly damaging	Het
Liat1	A	G	11: 75,891,047 (GRCm39)	K54E	probably damaging	Het
Litaf	T	C	16: 10,778,868 (GRCm39)	Q142R	possibly damaging	Het
Lpar5	G	C	6: 125,059,110 (GRCm39)	R277P	possibly damaging	Het
Muc6	T	A	7: 141,216,349 (GRCm39)	I2710F	probably benign	Het
Myo7b	T	A	18: 32,108,265 (GRCm39)	I1199F	probably benign	Het
Naca	A	C	10: 127,883,990 (GRCm39)	E2140D	possibly damaging	Het
Nup214	G	T	2: 31,881,329 (GRCm39)	G396C	probably damaging	Het
Or2v1	A	T	11: 49,025,451 (GRCm39)	Q144L	probably benign	Het
Or5aq7	T	A	2: 86,938,150 (GRCm39)	I194F	probably benign	Het
Or5j3	G	A	2: 86,128,540 (GRCm39)	V127I	possibly damaging	Het
Or7g33	A	G	9: 19,448,573 (GRCm39)	Y218H	probably damaging	Het
Or8b57	A	T	9: 40,003,690 (GRCm39)	S187T	probably damaging	Het
P4htm	A	G	9: 108,456,492 (GRCm39)	V436A	probably benign	Het
Phlpp1	T	G	1: 106,209,201 (GRCm39)	V518G	probably damaging	Het
Piwil4	G	A	9: 14,621,240 (GRCm39)	L598F	probably damaging	Het
Polr1b	T	G	2: 128,965,803 (GRCm39)	I815R	possibly damaging	Het
Ppef2	T	C	5: 92,382,150 (GRCm39)	N515S	probably damaging	Het
Prp2rt	A	G	13: 97,235,648 (GRCm39)	I33T	probably benign	Het
Prpsap2	G	T	11: 61,631,830 (GRCm39)		probably null	Het
Rab27a	A	G	9: 73,002,695 (GRCm39)	D208G	probably benign	Het
Ralgds	A	G	2: 28,442,102 (GRCm39)		probably null	Het
Raph1	C	A	1: 60,535,436 (GRCm39)	C540F	probably damaging	Het
Rbsn	A	G	6: 92,175,231 (GRCm39)	L281P	probably damaging	Het
Rigi	T	A	4: 40,208,845 (GRCm39)	M756L	probably benign	Het
Rmdn1	G	T	4: 19,588,533 (GRCm39)	G110*	probably null	Het
Rph3a	T	A	5: 121,092,512 (GRCm39)	E363V	possibly damaging	Het
Serpina16	G	T	12: 103,641,262 (GRCm39)	Y154*	probably null	Het
Sh2d3c	G	A	2: 32,634,814 (GRCm39)	E198K	possibly damaging	Het
Shank2	C	A	7: 143,812,842 (GRCm39)	Y663*	probably null	Het
Sharpin	T	C	15: 76,234,225 (GRCm39)		probably benign	Het
Slitrk1	G	A	14: 109,149,740 (GRCm39)	P324S	probably benign	Het
Sorbs2	T	A	8: 46,199,571 (GRCm39)		probably null	Het
Spag16	C	T	1: 69,962,963 (GRCm39)		probably benign	Het
Sycp2l	A	T	13: 41,283,247 (GRCm39)		probably null	Het
Synj1	A	T	16: 90,737,407 (GRCm39)		probably null	Het
Sytl1	T	C	4: 132,983,530 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,570,023 (GRCm39)		probably null	Het
Tnn	T	C	1: 159,972,781 (GRCm39)	T274A	probably damaging	Het
Trav14-2	T	A	14: 53,878,505 (GRCm39)	W35R	probably damaging	Het
Trim72	T	C	7: 127,607,137 (GRCm39)	M222T	probably damaging	Het
Trim9	A	G	12: 70,393,482 (GRCm39)	V154A	probably damaging	Het
Ttc7b	T	C	12: 100,268,001 (GRCm39)	Y266C	probably damaging	Het
Uchl3	T	A	14: 101,903,982 (GRCm39)	I43K	possibly damaging	Het
Vdac1	T	A	11: 52,279,305 (GRCm39)	N269K	possibly damaging	Het
Wdr72	T	A	9: 74,053,258 (GRCm39)	W187R	probably damaging	Het
Zfp30	T	A	7: 29,492,491 (GRCm39)	C248*	probably null	Het
Zfp940	A	T	7: 29,550,381 (GRCm39)		probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	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
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'- AGTTGACACGTCCTTTCTTGG -3'
(R):5'- GCCAGGATGATGTTTTCAAATGC -3'

Sequencing Primer
(F):5'- TCCTTTCTTGGACTGCTTTAATTAG -3'
(R):5'- TTTTCAAATGCAAAGAGTAAAGGGC -3'

Posted On

2016-06-06