Mutagenetix > Incidental Mutation

Incidental Mutation 'R1918:Pfkl'

212742

Institutional Source

Beutler Lab

Gene Symbol

Pfkl

Ensembl Gene

ENSMUSG00000020277

Gene Name

phosphofructokinase, liver, B-type

Synonyms

MMRRC Submission

039936-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77822781-77845641 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77837260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 104 (N104K)

Ref Sequence

ENSEMBL: ENSMUSP00000020522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020522] [ENSMUST00000145716] [ENSMUST00000218383]

AlphaFold

P12382

Predicted Effect

probably damaging
Transcript: ENSMUST00000020522
AA Change: N104K

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

SMART Domains

Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
AA Change: N104K

Domain	Start	End	E-Value	Type
Pfam:PFK	17	324	4.7e-109	PFAM
Pfam:PFK	401	686	1.9e-98	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000145716
AA Change: N75K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148818

Predicted Effect

probably benign
Transcript: ENSMUST00000218383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220064

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

97% (113/116)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	G	7: 29,273,514 (GRCm39)		noncoding transcript	Het
A2m	T	C	6: 121,621,895 (GRCm39)	S314P	probably benign	Het
Abcc9	T	A	6: 142,643,408 (GRCm39)	I47F	probably damaging	Het
Abcd2	C	T	15: 91,075,684 (GRCm39)	R43H	probably benign	Het
Adgre5	A	G	8: 84,455,738 (GRCm39)	V190A	probably damaging	Het
Aen	C	T	7: 78,555,777 (GRCm39)	H242Y	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap10	T	C	8: 77,985,708 (GRCm39)	I698V	probably benign	Het
Arpp21	C	T	9: 111,948,246 (GRCm39)		probably benign	Het
Atp10a	T	C	7: 58,477,683 (GRCm39)	I1294T	possibly damaging	Het
Atp13a2	T	C	4: 140,723,682 (GRCm39)	Y337H	possibly damaging	Het
Bsn	C	T	9: 107,984,772 (GRCm39)	G3094D	unknown	Het
Cadm2	G	A	16: 66,544,270 (GRCm39)		probably benign	Het
Cadps	T	C	14: 12,546,372 (GRCm38)	M495V	probably damaging	Het
Cass4	A	G	2: 172,269,259 (GRCm39)	H447R	possibly damaging	Het
Ccdc124	C	A	8: 71,321,588 (GRCm39)	R108L	probably benign	Het
Ccdc141	C	T	2: 76,845,047 (GRCm39)	R1340Q	probably benign	Het
Ccdc148	T	G	2: 58,872,911 (GRCm39)	R299S	probably damaging	Het
Cd300lg	A	G	11: 101,944,936 (GRCm39)	E382G	probably damaging	Het
Cd36	A	T	5: 18,002,034 (GRCm39)	C322*	probably null	Het
Celsr2	C	T	3: 108,305,966 (GRCm39)	G2046D	probably benign	Het
Clasrp	C	T	7: 19,319,188 (GRCm39)	W492*	probably null	Het
Cmtr1	T	C	17: 29,897,983 (GRCm39)	V154A	possibly damaging	Het
Ctnnb1	C	T	9: 120,780,100 (GRCm39)	P128S	possibly damaging	Het
Cyp11a1	A	G	9: 57,934,040 (GRCm39)	I496V	probably damaging	Het
Disp2	G	A	2: 118,622,408 (GRCm39)	V1047I	probably benign	Het
Dync2i1	A	C	12: 116,196,221 (GRCm39)	S509A	probably damaging	Het
Eps8l2	T	C	7: 140,941,637 (GRCm39)	V636A	probably damaging	Het
Fars2	T	C	13: 36,388,529 (GRCm39)	L6P	probably damaging	Het
Fem1al	A	G	11: 29,774,039 (GRCm39)	S473P	probably benign	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Fut8	G	T	12: 77,378,992 (GRCm39)	R31L	probably benign	Het
G6pd2	T	C	5: 61,967,664 (GRCm39)	F480L	probably benign	Het
Glipr1l2	T	A	10: 111,928,550 (GRCm39)	C148*	probably null	Het
Gm10142	G	A	10: 77,551,821 (GRCm39)	V61M	probably benign	Het
Gm5134	T	A	10: 75,812,180 (GRCm39)	M145K	possibly damaging	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpc2	T	C	5: 138,276,641 (GRCm39)	T162A	probably benign	Het
Gtf2h4	G	A	17: 35,981,090 (GRCm39)	L246F	possibly damaging	Het
Hal	C	T	10: 93,332,469 (GRCm39)	P294S	probably damaging	Het
Hectd3	C	T	4: 116,857,540 (GRCm39)	A573V	possibly damaging	Het
Hephl1	T	A	9: 14,988,114 (GRCm39)	I665F	probably benign	Het
Herc1	T	C	9: 66,383,408 (GRCm39)		probably null	Het
Hif1an	A	G	19: 44,559,551 (GRCm39)		probably null	Het
Iho1	T	A	9: 108,290,184 (GRCm39)	H140L	probably benign	Het
Il12rb1	T	A	8: 71,266,324 (GRCm39)	M223K	probably benign	Het
Ilf3	C	T	9: 21,305,010 (GRCm39)	T201M	probably damaging	Het
Inpp5f	T	C	7: 128,265,693 (GRCm39)		probably benign	Het
Jcad	T	C	18: 4,674,292 (GRCm39)	Y685H	probably damaging	Het
Kcnj1	C	A	9: 32,308,034 (GRCm39)	Q153K	probably benign	Het
Kctd18	A	C	1: 57,998,379 (GRCm39)	H73Q	probably damaging	Het
Klhl36	T	A	8: 120,603,463 (GRCm39)	W573R	probably damaging	Het
Ldc1	A	T	4: 130,105,186 (GRCm39)	V328D	probably benign	Het
Lepr	A	G	4: 101,630,033 (GRCm39)	T583A	probably benign	Het
Ltbp4	G	A	7: 27,036,994 (GRCm39)		probably benign	Het
Mapt	A	T	11: 104,189,325 (GRCm39)	E114D	probably benign	Het
Mib1	T	A	18: 10,740,972 (GRCm39)		probably null	Het
Mthfd1	G	T	12: 76,361,750 (GRCm39)	A119S	probably damaging	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Nceh1	T	G	3: 27,237,324 (GRCm39)	L33R	probably damaging	Het
Nfat5	T	C	8: 108,092,868 (GRCm39)	I91T	probably damaging	Het
Nxn	A	G	11: 76,152,498 (GRCm39)		probably benign	Het
Oasl1	G	A	5: 115,061,528 (GRCm39)	A20T	possibly damaging	Het
Or2m12	A	T	16: 19,105,052 (GRCm39)	M147K	probably benign	Het
Or4c127	T	C	2: 89,832,918 (GRCm39)	F56S	probably benign	Het
Or4d6	A	G	19: 12,086,871 (GRCm39)	V13A	probably benign	Het
Or5b97	A	G	19: 12,878,215 (GRCm39)	*310Q	probably null	Het
Or5t18	C	T	2: 86,637,171 (GRCm39)	M57I	probably damaging	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Pepd	T	C	7: 34,671,101 (GRCm39)	V215A	probably benign	Het
Phf24	T	C	4: 42,938,165 (GRCm39)		probably benign	Het
Pink1	T	C	4: 138,041,331 (GRCm39)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm39)	D338G	probably damaging	Het
Ppp1r13b	A	G	12: 111,801,244 (GRCm39)	V480A	probably damaging	Het
Ptgfrn	A	T	3: 100,963,623 (GRCm39)	I663N	probably benign	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Rasef	A	G	4: 73,662,351 (GRCm39)	S200P	possibly damaging	Het
Rbm33	T	A	5: 28,592,915 (GRCm39)	I605N	probably damaging	Het
Rps19bp1	T	C	15: 80,148,280 (GRCm39)	T31A	probably benign	Het
Ryr2	T	A	13: 11,571,584 (GRCm39)	T4885S	possibly damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Skor2	T	C	18: 76,947,051 (GRCm39)	S258P	unknown	Het
Slc22a29	C	T	19: 8,195,123 (GRCm39)		probably null	Het
Slc8a3	A	T	12: 81,361,618 (GRCm39)	F400L	probably damaging	Het
Slc9a8	T	C	2: 167,266,134 (GRCm39)	I37T	possibly damaging	Het
Smchd1	A	G	17: 71,714,232 (GRCm39)	I877T	possibly damaging	Het
Spag5	A	G	11: 78,195,002 (GRCm39)	N103S	probably benign	Het
Sptbn1	A	T	11: 30,092,414 (GRCm39)	F450L	probably damaging	Het
Strn4	T	A	7: 16,567,846 (GRCm39)	Y507N	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Syt17	G	T	7: 118,033,208 (GRCm39)	L267I	possibly damaging	Het
Tcstv4	T	C	13: 120,769,758 (GRCm39)	L26P	probably damaging	Het
Tdo2	T	A	3: 81,866,247 (GRCm39)	R339W	probably damaging	Het
Tex55	A	G	16: 38,648,450 (GRCm39)	Y220H	possibly damaging	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Ttn	A	G	2: 76,571,745 (GRCm39)	S26383P	probably damaging	Het
Ttn	G	T	2: 76,638,868 (GRCm39)	T13938K	probably damaging	Het
Tulp2	A	G	7: 45,167,365 (GRCm39)	N188D	possibly damaging	Het
Ube3c	C	T	5: 29,792,315 (GRCm39)	R37C	probably damaging	Het
Uggt2	G	T	14: 119,245,467 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,203,017 (GRCm39)	V457M	probably damaging	Het
Usp17la	C	T	7: 104,509,953 (GRCm39)	T186I	probably benign	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn1r235	T	A	17: 21,482,659 (GRCm39)	I328K	possibly damaging	Het
Vmn2r50	A	T	7: 9,781,610 (GRCm39)	S378R	probably benign	Het
Vwa2	C	T	19: 56,897,366 (GRCm39)	T557I	probably benign	Het
Vxn	T	C	1: 9,671,852 (GRCm39)	F15S	probably damaging	Het
Yes1	G	T	5: 32,842,079 (GRCm39)	Q534H	probably benign	Het
Zbtb25	A	T	12: 76,396,075 (GRCm39)	Y382*	probably null	Het
Zc3h3	G	A	15: 75,648,967 (GRCm39)	P722S	probably damaging	Het
Zfp36l2	T	C	17: 84,494,164 (GRCm39)	T158A	probably damaging	Het
Zfp536	T	C	7: 37,179,624 (GRCm39)	T994A	probably damaging	Het
Zfp592	C	T	7: 80,687,168 (GRCm39)	Q824*	probably null	Het
Zfp629	C	A	7: 127,211,172 (GRCm39)	K212N	probably damaging	Het
Zfp930	C	A	8: 69,681,357 (GRCm39)	Q350K	probably benign	Het

Other mutations in Pfkl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Pfkl	APN	10	77,827,229 (GRCm39)	missense	probably benign
IGL01759:Pfkl	APN	10	77,836,565 (GRCm39)	missense	probably damaging	1.00
IGL02697:Pfkl	APN	10	77,835,752 (GRCm39)	missense	probably benign	0.09
IGL02870:Pfkl	APN	10	77,836,673 (GRCm39)	nonsense	probably null
IGL02942:Pfkl	APN	10	77,835,967 (GRCm39)	critical splice donor site	probably null
IGL02972:Pfkl	APN	10	77,824,108 (GRCm39)	missense	probably benign	0.00
IGL03342:Pfkl	APN	10	77,841,309 (GRCm39)	missense	possibly damaging	0.95
ANU23:Pfkl	UTSW	10	77,827,229 (GRCm39)	missense	probably benign
R0226:Pfkl	UTSW	10	77,828,368 (GRCm39)	missense	probably benign	0.00
R0743:Pfkl	UTSW	10	77,831,077 (GRCm39)	critical splice donor site	probably null
R0899:Pfkl	UTSW	10	77,841,273 (GRCm39)	critical splice donor site	probably null
R0926:Pfkl	UTSW	10	77,836,523 (GRCm39)	missense	probably damaging	1.00
R1264:Pfkl	UTSW	10	77,829,250 (GRCm39)	missense	possibly damaging	0.46
R1782:Pfkl	UTSW	10	77,824,554 (GRCm39)	missense	probably benign	0.00
R3743:Pfkl	UTSW	10	77,832,179 (GRCm39)	missense	probably damaging	1.00
R4559:Pfkl	UTSW	10	77,824,717 (GRCm39)	missense	probably benign	0.00
R4804:Pfkl	UTSW	10	77,827,228 (GRCm39)	missense	probably benign
R4823:Pfkl	UTSW	10	77,833,428 (GRCm39)	missense	probably damaging	1.00
R4906:Pfkl	UTSW	10	77,824,144 (GRCm39)	missense	probably damaging	1.00
R5082:Pfkl	UTSW	10	77,832,242 (GRCm39)	missense	probably damaging	1.00
R5216:Pfkl	UTSW	10	77,845,504 (GRCm39)	missense	probably damaging	0.99
R5380:Pfkl	UTSW	10	77,833,423 (GRCm39)	missense	possibly damaging	0.86
R5816:Pfkl	UTSW	10	77,837,856 (GRCm39)	missense	possibly damaging	0.75
R5840:Pfkl	UTSW	10	77,824,558 (GRCm39)	missense	probably benign
R5888:Pfkl	UTSW	10	77,827,204 (GRCm39)	missense	possibly damaging	0.68
R6143:Pfkl	UTSW	10	77,825,447 (GRCm39)	missense	probably damaging	0.96
R6152:Pfkl	UTSW	10	77,825,985 (GRCm39)	missense	probably benign	0.00
R6251:Pfkl	UTSW	10	77,825,399 (GRCm39)	critical splice donor site	probably null
R6262:Pfkl	UTSW	10	77,824,507 (GRCm39)	critical splice donor site	probably null
R6382:Pfkl	UTSW	10	77,835,671 (GRCm39)	missense	probably damaging	0.98
R6407:Pfkl	UTSW	10	77,824,507 (GRCm39)	critical splice donor site	probably null
R6547:Pfkl	UTSW	10	77,831,188 (GRCm39)	missense	probably benign
R6704:Pfkl	UTSW	10	77,832,200 (GRCm39)	missense	probably damaging	1.00
R6996:Pfkl	UTSW	10	77,833,423 (GRCm39)	missense	probably damaging	1.00
R7116:Pfkl	UTSW	10	77,837,249 (GRCm39)	missense	probably benign
R7154:Pfkl	UTSW	10	77,837,289 (GRCm39)	missense	probably benign	0.41
R7183:Pfkl	UTSW	10	77,837,916 (GRCm39)	nonsense	probably null
R7248:Pfkl	UTSW	10	77,825,423 (GRCm39)	missense	probably damaging	1.00
R7252:Pfkl	UTSW	10	77,829,263 (GRCm39)	missense	probably damaging	1.00
R7278:Pfkl	UTSW	10	77,827,857 (GRCm39)	missense	probably damaging	0.99
R7974:Pfkl	UTSW	10	77,829,996 (GRCm39)	missense	probably damaging	1.00
R8686:Pfkl	UTSW	10	77,833,356 (GRCm39)	critical splice donor site	probably null
R8900:Pfkl	UTSW	10	77,836,615 (GRCm39)	missense	probably damaging	1.00
R9015:Pfkl	UTSW	10	77,824,794 (GRCm39)	missense	probably damaging	0.98
R9090:Pfkl	UTSW	10	77,833,426 (GRCm39)	missense	probably benign	0.28
R9257:Pfkl	UTSW	10	77,825,489 (GRCm39)	missense	probably damaging	1.00
R9271:Pfkl	UTSW	10	77,833,426 (GRCm39)	missense	probably benign	0.28
R9415:Pfkl	UTSW	10	77,824,081 (GRCm39)	missense	probably damaging	1.00
R9439:Pfkl	UTSW	10	77,831,172 (GRCm39)	missense	probably damaging	1.00
R9486:Pfkl	UTSW	10	77,824,184 (GRCm39)	missense	probably benign
R9703:Pfkl	UTSW	10	77,826,142 (GRCm39)	critical splice acceptor site	probably null
X0026:Pfkl	UTSW	10	77,825,477 (GRCm39)	missense	probably damaging	1.00
Z1176:Pfkl	UTSW	10	77,835,970 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGACCTTATGACCTGCAGAC -3'
(R):5'- GATTCTAGAGGCTTCTCCCCTG -3'

Sequencing Primer
(F):5'- TGACCTTATGACCTGCAGACTATAC -3'
(R):5'- CTCCCCTGTTTAATTCTGTGGGG -3'

Posted On

2014-07-14