Mutagenetix > Incidental Mutation

Incidental Mutation 'R5534:Pfkp'

434736

Institutional Source

Beutler Lab

Gene Symbol

Pfkp

Ensembl Gene

ENSMUSG00000021196

Gene Name

phosphofructokinase, platelet

Synonyms

PFK-C, 9330125N24Rik, 1200015H23Rik

MMRRC Submission

043092-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

R5534 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

6629804-6698813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6698619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 33 (G33W)

Ref Sequence

ENSEMBL: ENSMUSP00000117030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021614] [ENSMUST00000138703]

AlphaFold

Q9WUA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000021614
AA Change: G33W

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

SMART Domains

Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: G33W

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
Pfam:PFK	25	332	4.7e-114	PFAM
Pfam:PFK	411	696	1.2e-96	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137327

Predicted Effect

probably damaging
Transcript: ENSMUST00000138703
AA Change: G33W

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

SMART Domains

Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: G33W

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
Pfam:PFK	24	334	6.7e-136	PFAM
Pfam:PFK	410	698	1.1e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151894

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,155,530 (GRCm39)	D163V	probably benign	Het
Ank2	A	T	3: 126,740,947 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,814,442 (GRCm39)	E355G	probably damaging	Het
Ankmy2	A	G	12: 36,232,491 (GRCm39)	N172S	probably damaging	Het
Ankrd50	A	G	3: 38,510,231 (GRCm39)	M712T	probably damaging	Het
Apcdd1	T	C	18: 63,070,105 (GRCm39)	I124T	probably benign	Het
Carmil3	A	G	14: 55,732,347 (GRCm39)	K256R	probably damaging	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Ccdc141	A	G	2: 76,888,241 (GRCm39)	V508A	probably benign	Het
Ccdc33	A	G	9: 58,024,450 (GRCm39)	S226P	possibly damaging	Het
Cep72	T	C	13: 74,210,335 (GRCm39)	E9G	probably benign	Het
Clca4b	A	T	3: 144,621,227 (GRCm39)	Y616N	probably damaging	Het
Cnot4	A	G	6: 35,054,939 (GRCm39)	S117P	possibly damaging	Het
Col11a2	C	T	17: 34,269,998 (GRCm39)	A429V	probably damaging	Het
Col4a4	T	C	1: 82,465,238 (GRCm39)	E979G	unknown	Het
Coq10b	T	C	1: 55,103,359 (GRCm39)	Y46H	possibly damaging	Het
Cplane1	C	A	15: 8,258,319 (GRCm39)	F2188L	probably benign	Het
Dnah17	T	C	11: 117,943,596 (GRCm39)	T3169A	possibly damaging	Het
Dock6	G	A	9: 21,714,372 (GRCm39)	R1824*	probably null	Het
Dsp	A	C	13: 38,379,818 (GRCm39)	I1589L	probably benign	Het
Edil3	A	G	13: 89,347,593 (GRCm39)	T383A	probably benign	Het
Efemp1	T	C	11: 28,817,758 (GRCm39)	V79A	probably damaging	Het
Esyt1	C	T	10: 128,355,329 (GRCm39)	V471I	probably benign	Het
Fbxo30	T	C	10: 11,165,409 (GRCm39)	S44P	possibly damaging	Het
Fdx2	G	T	9: 20,984,562 (GRCm39)	D57E	probably benign	Het
Gbp11	A	T	5: 105,478,904 (GRCm39)	V178D	probably damaging	Het
Gna11	A	T	10: 81,366,967 (GRCm39)	I283N	probably damaging	Het
Grid2	A	T	6: 63,480,345 (GRCm39)	Q53L	probably benign	Het
Jmjd6	A	G	11: 116,731,252 (GRCm39)	S266P	probably damaging	Het
Kirrel1	G	A	3: 86,997,825 (GRCm39)	R233C	probably damaging	Het
Kmt2d	A	G	15: 98,735,238 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,686,267 (GRCm39)	T1171S	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med13	A	T	11: 86,210,191 (GRCm39)	S650R	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mgat1	T	C	11: 49,151,976 (GRCm39)	V153A	probably benign	Het
Mmp16	A	T	4: 18,110,452 (GRCm39)	D416V	probably damaging	Het
Myh3	A	T	11: 66,987,870 (GRCm39)	R1448W	probably damaging	Het
Nedd1	A	T	10: 92,530,894 (GRCm39)	F398L	probably benign	Het
Or2a14	A	G	6: 43,130,567 (GRCm39)	I109M	probably benign	Het
Or4k45	T	C	2: 111,395,349 (GRCm39)	T147A	probably benign	Het
Or5ac17	T	C	16: 59,036,403 (GRCm39)	D191G	probably benign	Het
Or5g9	T	C	2: 85,552,331 (GRCm39)	I194T	probably benign	Het
Otud3	A	G	4: 138,624,894 (GRCm39)	L269P	probably damaging	Het
Otx1	A	G	11: 21,946,296 (GRCm39)		probably benign	Het
Pcdhga7	A	C	18: 37,849,331 (GRCm39)	D446A	probably damaging	Het
Pcnx2	T	G	8: 126,564,754 (GRCm39)	K1046N	possibly damaging	Het
Poglut2	C	T	1: 44,151,837 (GRCm39)	V351M	probably damaging	Het
Pold1	A	G	7: 44,188,043 (GRCm39)	I585T	probably damaging	Het
Pole4	A	G	6: 82,629,115 (GRCm39)	Y84H	possibly damaging	Het
Pramel26	G	T	4: 143,539,169 (GRCm39)	S108*	probably null	Het
Ptpn23	A	G	9: 110,221,809 (GRCm39)	S126P	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rin3	T	C	12: 102,353,891 (GRCm39)	L766P	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rras2	G	A	7: 113,649,650 (GRCm39)	T138I	possibly damaging	Het
Scrn2	A	G	11: 96,921,751 (GRCm39)	I74V	probably benign	Het
Sema6d	T	C	2: 124,501,735 (GRCm39)	I526T	possibly damaging	Het
Shd	G	T	17: 56,278,577 (GRCm39)	E47*	probably null	Het
Slc22a27	T	C	19: 7,903,996 (GRCm39)	H47R	probably damaging	Het
Slc36a3	C	G	11: 55,033,595 (GRCm39)	W141S	possibly damaging	Het
Slc9c1	T	A	16: 45,376,977 (GRCm39)	V429E	probably benign	Het
Smg8	A	T	11: 86,976,296 (GRCm39)	D428E	probably benign	Het
Snrpe	A	T	1: 133,534,211 (GRCm39)	F84Y	probably benign	Het
Tbc1d2b	C	T	9: 90,109,559 (GRCm39)	D306N	possibly damaging	Het
Trav9n-4	A	G	14: 53,532,356 (GRCm39)	Y70C	probably damaging	Het
Tut7	A	G	13: 59,936,367 (GRCm39)	F843L	probably damaging	Het
Ush1c	A	G	7: 45,870,847 (GRCm39)	I330T	probably damaging	Het
Wnt11	T	C	7: 98,488,349 (GRCm39)	L12P	probably damaging	Het
Zan	A	G	5: 137,436,713 (GRCm39)	S2047P	unknown	Het
Zfp763	A	C	17: 33,240,768 (GRCm39)	S20R	probably damaging	Het

Other mutations in Pfkp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Pfkp	APN	13	6,669,586 (GRCm39)	missense	probably damaging	1.00
IGL00983:Pfkp	APN	13	6,631,603 (GRCm39)	missense	probably damaging	1.00
IGL01099:Pfkp	APN	13	6,653,426 (GRCm39)	splice site	probably benign
IGL01825:Pfkp	APN	13	6,671,014 (GRCm39)	missense	probably damaging	1.00
IGL02164:Pfkp	APN	13	6,647,951 (GRCm39)	missense	probably damaging	1.00
IGL02331:Pfkp	APN	13	6,647,996 (GRCm39)	missense	probably benign	0.33
IGL02680:Pfkp	APN	13	6,650,708 (GRCm39)	unclassified	probably benign
IGL02852:Pfkp	APN	13	6,655,059 (GRCm39)	missense	possibly damaging	0.57
R0414:Pfkp	UTSW	13	6,643,246 (GRCm39)	missense	probably benign	0.03
R0542:Pfkp	UTSW	13	6,672,028 (GRCm39)	nonsense	probably null
R0612:Pfkp	UTSW	13	6,655,670 (GRCm39)	critical splice donor site	probably null
R0767:Pfkp	UTSW	13	6,655,048 (GRCm39)	missense	probably damaging	0.98
R1417:Pfkp	UTSW	13	6,655,755 (GRCm39)	missense	probably benign	0.00
R1534:Pfkp	UTSW	13	6,669,574 (GRCm39)	missense	probably damaging	1.00
R1612:Pfkp	UTSW	13	6,638,625 (GRCm39)	missense	probably damaging	1.00
R2278:Pfkp	UTSW	13	6,669,245 (GRCm39)	splice site	probably null
R2919:Pfkp	UTSW	13	6,643,279 (GRCm39)	missense	probably damaging	0.98
R2996:Pfkp	UTSW	13	6,685,966 (GRCm39)	missense	probably benign	0.01
R4214:Pfkp	UTSW	13	6,669,261 (GRCm39)	missense	probably damaging	0.99
R4374:Pfkp	UTSW	13	6,671,025 (GRCm39)	missense	probably damaging	1.00
R4693:Pfkp	UTSW	13	6,650,671 (GRCm39)	missense	possibly damaging	0.91
R5537:Pfkp	UTSW	13	6,669,278 (GRCm39)	missense	probably damaging	1.00
R5619:Pfkp	UTSW	13	6,648,765 (GRCm39)	unclassified	probably benign
R5677:Pfkp	UTSW	13	6,638,631 (GRCm39)	missense	probably damaging	1.00
R6038:Pfkp	UTSW	13	6,648,005 (GRCm39)	missense	probably benign	0.14
R6038:Pfkp	UTSW	13	6,648,005 (GRCm39)	missense	probably benign	0.14
R6216:Pfkp	UTSW	13	6,669,224 (GRCm39)	missense	probably benign	0.00
R6330:Pfkp	UTSW	13	6,635,286 (GRCm39)	unclassified	probably benign
R6676:Pfkp	UTSW	13	6,636,575 (GRCm39)	missense	possibly damaging	0.74
R7044:Pfkp	UTSW	13	6,631,603 (GRCm39)	missense	probably damaging	1.00
R7146:Pfkp	UTSW	13	6,652,817 (GRCm39)	missense	probably benign	0.00
R7193:Pfkp	UTSW	13	6,643,252 (GRCm39)	missense	probably benign	0.00
R7588:Pfkp	UTSW	13	6,698,673 (GRCm39)	missense	possibly damaging	0.81
R7611:Pfkp	UTSW	13	6,655,119 (GRCm39)	critical splice acceptor site	probably null
R7821:Pfkp	UTSW	13	6,647,908 (GRCm39)	missense	probably damaging	1.00
R8196:Pfkp	UTSW	13	6,655,698 (GRCm39)	missense	probably benign	0.00
R8542:Pfkp	UTSW	13	6,631,557 (GRCm39)	missense	possibly damaging	0.56
R9028:Pfkp	UTSW	13	6,655,725 (GRCm39)	missense	probably damaging	0.98
R9338:Pfkp	UTSW	13	6,634,724 (GRCm39)	missense	probably damaging	1.00
Z1177:Pfkp	UTSW	13	6,669,288 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- AGGTAATTTTCACCAAGCCCTTTC -3'
(R):5'- TCTTTGACACAACAGGCCCC -3'

Sequencing Primer
(F):5'- AATTTTCACCAAGCCCTTTCCTCATC -3'
(R):5'- ATCGCCACAGCCCATTGG -3'

Posted On

2016-10-24