Mutagenetix > Incidental Mutation

Incidental Mutation 'R6996:Pfkl'

544221

Institutional Source

Beutler Lab

Gene Symbol

Pfkl

Ensembl Gene

ENSMUSG00000020277

Gene Name

phosphofructokinase, liver, B-type

Synonyms

MMRRC Submission

045102-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77822781-77845641 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77833423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 260 (I260F)

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: I260F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
AA Change: I260F

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 benign
Transcript: ENSMUST00000145716

Predicted Effect

probably benign
Transcript: ENSMUST00000218383

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 25,296,517 (GRCm39)	S310L	probably damaging	Het
Adamts16	C	T	13: 70,946,157 (GRCm39)		probably null	Het
Arrb1	C	A	7: 99,240,569 (GRCm39)	D194E	probably benign	Het
Atp1a3	T	C	7: 24,697,051 (GRCm39)	D217G	probably damaging	Het
Bcar3	A	G	3: 122,302,033 (GRCm39)	I123V	possibly damaging	Het
Bdp1	G	A	13: 100,180,321 (GRCm39)	L1833F	probably damaging	Het
Cdc14a	T	C	3: 116,122,355 (GRCm39)	Y155C	probably damaging	Het
Cdo1	C	A	18: 46,853,380 (GRCm39)	R126M	possibly damaging	Het
Cfap99	G	T	5: 34,484,604 (GRCm39)	R627L	probably damaging	Het
Efr3a	T	A	15: 65,720,030 (GRCm39)	L369*	probably null	Het
Erich6	A	C	3: 58,543,516 (GRCm39)	F185V	probably damaging	Het
Fam186a	T	C	15: 99,853,374 (GRCm39)	D122G	unknown	Het
Fank1	A	G	7: 133,478,627 (GRCm39)	I230M	possibly damaging	Het
Flg2	A	T	3: 93,109,977 (GRCm39)	E668D	unknown	Het
Flg2	A	C	3: 93,110,256 (GRCm39)	R761S	unknown	Het
Gabrr1	T	C	4: 33,158,157 (GRCm39)	L260P	probably damaging	Het
Gfm2	G	A	13: 97,285,868 (GRCm39)	R119K	probably damaging	Het
Gm14226	A	G	2: 154,866,357 (GRCm39)	T105A	probably benign	Het
Gm14496	A	G	2: 181,637,997 (GRCm39)	N357S	probably damaging	Het
Gm5916	G	A	9: 36,039,935 (GRCm39)	L18F	probably benign	Het
Golm1	A	T	13: 59,790,058 (GRCm39)	N247K	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Greb1	C	T	12: 16,773,355 (GRCm39)	A240T	probably benign	Het
Gtf3c6	T	C	10: 40,125,774 (GRCm39)	M148V	probably benign	Het
Guca1a	T	C	17: 47,706,102 (GRCm39)	S126G	probably benign	Het
Hacl1	A	T	14: 31,337,380 (GRCm39)	I393N	possibly damaging	Het
Hddc3	A	G	7: 79,993,498 (GRCm39)	D68G	possibly damaging	Het
Hsfy2	T	C	1: 56,675,569 (GRCm39)	T323A	possibly damaging	Het
Kcng2	T	C	18: 80,366,358 (GRCm39)		probably benign	Het
Kdm2a	G	T	19: 4,395,669 (GRCm39)	P321T	probably benign	Het
Krt31	A	G	11: 99,938,558 (GRCm39)	V345A	probably benign	Het
Lrrc37	A	T	11: 103,509,583 (GRCm39)	L795*	probably null	Het
Mettl1	T	C	10: 126,880,887 (GRCm39)	S193P	probably benign	Het
Mme	G	A	3: 63,253,523 (GRCm39)	D456N	possibly damaging	Het
Mmrn1	A	G	6: 60,954,367 (GRCm39)	T883A	probably benign	Het
Mphosph10	C	G	7: 64,038,669 (GRCm39)	E293Q	probably benign	Het
Muc16	C	A	9: 18,557,193 (GRCm39)	K3033N	unknown	Het
Myo16	C	T	8: 10,619,496 (GRCm39)	T1349M	probably damaging	Het
Myo5c	T	C	9: 75,157,746 (GRCm39)	I233T	probably benign	Het
Or4p4b-ps1	A	G	2: 88,454,189 (GRCm39)	T181A	unknown	Het
Or52a33	T	G	7: 103,289,065 (GRCm39)	N94T	probably benign	Het
Or52ac1	A	T	7: 104,246,018 (GRCm39)	F123L	probably benign	Het
Or5b111	A	T	19: 13,291,036 (GRCm39)	S204R	probably benign	Het
Or5h22	A	G	16: 58,894,555 (GRCm39)	M296T	probably benign	Het
Or6c2	T	A	10: 129,362,732 (GRCm39)	V212E	probably damaging	Het
Or7c70	C	A	10: 78,683,351 (GRCm39)	V133L	probably benign	Het
Oxct2b	A	G	4: 123,011,480 (GRCm39)	I467V	probably benign	Het
Parp1	A	T	1: 180,414,936 (GRCm39)	N425Y	possibly damaging	Het
Pcdhgc3	T	A	18: 37,939,656 (GRCm39)	V19D	possibly damaging	Het
Pkd1l1	C	T	11: 8,799,046 (GRCm39)	G1789R	probably damaging	Het
Pla1a	G	A	16: 38,217,830 (GRCm39)	A386V	probably benign	Het
Pml	A	G	9: 58,142,169 (GRCm39)	L221P	probably damaging	Het
Rcn2	C	T	9: 55,964,845 (GRCm39)	Q268*	probably null	Het
Reps1	T	A	10: 17,969,603 (GRCm39)	D235E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sap30bp	A	G	11: 115,824,314 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,118,075 (GRCm39)	S1433T	probably damaging	Het
Sde2	T	C	1: 180,678,754 (GRCm39)	V6A	probably benign	Het
Sdk1	C	A	5: 142,197,769 (GRCm39)	R2141S	probably benign	Het
Setd2	T	C	9: 110,379,640 (GRCm39)	S1152P	probably damaging	Het
Slc26a2	C	T	18: 61,334,926 (GRCm39)	V176I	probably damaging	Het
Snx7	A	G	3: 117,640,281 (GRCm39)	I76T	possibly damaging	Het
Specc1l	C	A	10: 75,082,113 (GRCm39)	A520D	probably benign	Het
Spop	A	G	11: 95,362,136 (GRCm39)	T56A	possibly damaging	Het
Syne2	T	A	12: 76,074,786 (GRCm39)	D4576E	probably damaging	Het
Tas2r134	A	C	2: 51,517,601 (GRCm39)	M27L	probably benign	Het
Tecta	A	C	9: 42,278,082 (GRCm39)	I1142S	probably benign	Het
Timm44	T	C	8: 4,316,611 (GRCm39)	D311G	possibly damaging	Het
Tmem123	C	G	9: 7,791,071 (GRCm39)	T124R	possibly damaging	Het
Tmem184b	A	T	15: 79,246,959 (GRCm39)	L370Q	probably benign	Het
Trim25	T	A	11: 88,890,329 (GRCm39)	N5K	probably benign	Het
Vmn2r93	A	G	17: 18,524,903 (GRCm39)	Y187C	probably damaging	Het
Vpreb1a	A	G	16: 16,686,678 (GRCm39)	Y71H	probably damaging	Het
Vpreb1b	T	C	16: 17,798,441 (GRCm39)	S5P	probably benign	Het
Xpo7	A	T	14: 70,906,888 (GRCm39)	C939S	probably benign	Het
Zfp78	C	A	7: 6,381,764 (GRCm39)	S271R	probably benign	Het
Zic5	A	T	14: 122,702,080 (GRCm39)	M217K	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
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
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'- AACAGGTAATGTCCCAGTGCC -3'
(R):5'- GCAGATACAGTTTCCTAGCCCC -3'

Sequencing Primer
(F):5'- AGTGCCTACTTTTGCCCAGGG -3'
(R):5'- TGTGAGCCATCATGTAACGC -3'

Posted On

2019-05-13