Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Pfkl'

33941

Institutional Source

Beutler Lab

Gene Symbol

Pfkl

Ensembl Gene

ENSMUSG00000020277

Gene Name

phosphofructokinase, liver, B-type

Synonyms

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0226 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

77822781-77845641 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77828368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 399 (N399S)

Ref Sequence

ENSEMBL: ENSMUSP00000020522 (fasta)

Gene Model

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

AlphaFold

P12382

Predicted Effect

probably benign
Transcript: ENSMUST00000020522
AA Change: N399S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
AA Change: N399S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220064

Meta Mutation Damage Score

0.0584

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,379,569 (GRCm39)	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,451,544 (GRCm39)	E876V	possibly damaging	Het
Aasdh	A	T	5: 77,049,849 (GRCm39)	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,847,844 (GRCm39)		probably null	Het
Ablim1	A	T	19: 57,032,302 (GRCm39)	L556Q	probably damaging	Het
Afdn	A	G	17: 14,119,408 (GRCm39)	T1700A	probably benign	Het
Agl	G	A	3: 116,545,720 (GRCm39)	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,113,863 (GRCm39)	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,586 (GRCm39)	C180*	probably null	Het
Aim2	A	G	1: 173,289,899 (GRCm39)		probably benign	Het
Angpt1	T	C	15: 42,331,631 (GRCm39)	N320S	probably benign	Het
Ankrd52	T	A	10: 128,225,727 (GRCm39)		probably null	Het
Ap1g1	C	T	8: 110,581,694 (GRCm39)	S654L	probably benign	Het
Bpifa1	T	A	2: 153,987,977 (GRCm39)	S173R	probably benign	Het
Brd8	T	C	18: 34,736,947 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,381,670 (GRCm39)	T161A	probably benign	Het
Car6	T	C	4: 150,271,965 (GRCm39)	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,557,559 (GRCm39)	L273P	probably damaging	Het
Cit	G	A	5: 116,122,899 (GRCm39)	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,169,638 (GRCm39)	L48P	probably damaging	Het
Cttn	A	G	7: 143,995,589 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,743,619 (GRCm39)		probably benign	Het
Dtnbp1	A	G	13: 45,076,669 (GRCm39)	L175P	probably damaging	Het
Efl1	T	C	7: 82,342,219 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,162,830 (GRCm39)	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,751,061 (GRCm39)	S665T	probably benign	Het
Gm9843	A	T	16: 76,200,449 (GRCm39)		noncoding transcript	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076 (GRCm39)		probably benign	Het
Hdgfl1	A	T	13: 26,953,979 (GRCm39)	H31Q	probably benign	Het
Heatr1	T	C	13: 12,425,443 (GRCm39)	S628P	probably damaging	Het
Hivep2	A	G	10: 14,005,456 (GRCm39)	T685A	probably benign	Het
Hmgcl	T	G	4: 135,686,039 (GRCm39)	V168G	probably damaging	Het
Itch	T	C	2: 155,041,314 (GRCm39)	I454T	probably benign	Het
Itih2	T	C	2: 10,120,110 (GRCm39)	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,819,935 (GRCm39)	I304V	probably benign	Het
Kcnh1	G	A	1: 191,959,112 (GRCm39)	W222*	probably null	Het
Kcnh1	G	T	1: 191,959,113 (GRCm39)	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939 (GRCm39)	K287*	probably null	Het
Lrig3	A	G	10: 125,807,986 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,367,907 (GRCm39)	C202S	probably null	Het
Lrrc37	A	T	11: 103,494,067 (GRCm39)	F663L	probably benign	Het
Lrrn2	A	G	1: 132,865,558 (GRCm39)	N208D	probably damaging	Het
Mcm5	C	T	8: 75,852,880 (GRCm39)	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,791,790 (GRCm39)	L365S	probably benign	Het
Mfsd6	A	G	1: 52,697,849 (GRCm39)		probably benign	Het
Mgat4e	A	G	1: 134,468,841 (GRCm39)	V401A	probably benign	Het
Mllt3	C	A	4: 87,758,969 (GRCm39)	V360L	probably benign	Het
Mrm1	G	A	11: 84,709,996 (GRCm39)	A68V	possibly damaging	Het
Myo19	A	G	11: 84,788,558 (GRCm39)		probably benign	Het
Myo3b	A	G	2: 70,047,510 (GRCm39)	T311A	probably benign	Het
Myo5b	T	C	18: 74,875,251 (GRCm39)	F1552L	probably benign	Het
Myo7b	C	T	18: 32,105,949 (GRCm39)	V1353I	probably benign	Het
Myo9b	T	C	8: 71,806,476 (GRCm39)	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,329,988 (GRCm39)	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,685,641 (GRCm39)	S703P	probably damaging	Het
Pclo	T	C	5: 14,815,237 (GRCm39)	I1231T	probably damaging	Het
Pex16	A	C	2: 92,206,032 (GRCm39)		probably benign	Het
Pkhd1l1	G	A	15: 44,390,180 (GRCm39)	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,332,692 (GRCm39)	T106S	probably benign	Het
Prrc1	A	G	18: 57,496,363 (GRCm39)	M105V	probably benign	Het
Psg26	A	G	7: 18,217,883 (GRCm39)	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,622,263 (GRCm39)	S455C	probably damaging	Het
Ryr2	T	C	13: 11,787,442 (GRCm39)	K977R	probably damaging	Het
Sart1	C	T	19: 5,431,150 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,998,167 (GRCm39)	S509G	probably benign	Het
Sin3b	A	T	8: 73,471,136 (GRCm39)	E361V	probably benign	Het
Slc35e3	C	T	10: 117,576,795 (GRCm39)	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,728,215 (GRCm39)	S388P	probably damaging	Het
Srms	A	G	2: 180,854,175 (GRCm39)	S131P	probably benign	Het
Sting1	A	T	18: 35,872,141 (GRCm39)	F120L	probably benign	Het
Stxbp5	T	C	10: 9,742,442 (GRCm39)		probably benign	Het
Taar2	T	C	10: 23,816,961 (GRCm39)	V167A	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,899 (GRCm39)	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,544,513 (GRCm39)		probably benign	Het
Tnfaip3	T	C	10: 18,878,495 (GRCm39)	K771R	probably damaging	Het
Treml1	C	T	17: 48,667,486 (GRCm39)	L124F	probably damaging	Het
Ttn	G	T	2: 76,611,141 (GRCm39)	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,449,685 (GRCm39)	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,402,508 (GRCm39)	V248L	possibly damaging	Het
Vps35	T	C	8: 86,000,204 (GRCm39)	Q474R	probably damaging	Het
Wdr17	T	A	8: 55,116,043 (GRCm39)	T580S	probably benign	Het
Xpnpep1	T	C	19: 52,998,583 (GRCm39)	K222E	probably benign	Het
Ylpm1	A	G	12: 85,096,511 (GRCm39)	T1446A	probably benign	Het
Zfp277	A	G	12: 40,414,161 (GRCm39)	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,393,188 (GRCm39)	K57M	probably damaging	Het
Zmpste24	A	T	4: 120,938,406 (GRCm39)	S244R	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
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
R1918:Pfkl	UTSW	10	77,837,260 (GRCm39)	missense	probably damaging	1.00
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'- CTTCAAAGGTGAGTGACTGAGCCC -3'
(R):5'- TGTCCACTATCATGCCAGGAGACC -3'

Sequencing Primer
(F):5'- AGTGACTGAGCCCACAGC -3'
(R):5'- CCTAGCGATGTAGGCAGGAC -3'

Posted On

2013-05-09