Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Pfkfb4'

552669

Institutional Source

Beutler Lab

Gene Symbol

Pfkfb4

Ensembl Gene

ENSMUSG00000025648

Gene Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

Synonyms

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108820846-108861296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108836370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 133 (T133A)

Ref Sequence

ENSEMBL: ENSMUSP00000142378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051873] [ENSMUST00000196249] [ENSMUST00000198140] [ENSMUST00000199591]

AlphaFold

Q6DTY7

Predicted Effect

probably benign
Transcript: ENSMUST00000051873
AA Change: T117A

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648
AA Change: T117A

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	249	3.2e-105	PFAM
Pfam:AAA_33	41	199	2.3e-8	PFAM
PGAM	251	398	4.39e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196249

Predicted Effect

probably benign
Transcript: ENSMUST00000198140
AA Change: T133A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648
AA Change: T133A

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	249	1.9e-105	PFAM
Pfam:AAA_33	41	198	8.5e-10	PFAM
PGAM	251	398	4.39e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199591
AA Change: T133A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142992
Gene: ENSMUSG00000025648
AA Change: T133A

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	249	1.4e-105	PFAM
Pfam:AAA_33	41	198	6.6e-10	PFAM
PGAM	251	396	4.98e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200015

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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.] The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,637 (GRCm39)	V365A	probably damaging	Het
Abca13	A	G	11: 9,241,893 (GRCm39)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,255,857 (GRCm39)	F543I	probably damaging	Het
Adam15	T	A	3: 89,254,287 (GRCm39)	Q170L	possibly damaging	Het
Aldoc	A	G	11: 78,215,282 (GRCm39)	I19V	possibly damaging	Het
Aoc1l1	T	A	6: 48,953,306 (GRCm39)	Y410*	probably null	Het
Atrip	T	C	9: 108,889,488 (GRCm39)	I711M	probably benign	Het
Brwd1	A	C	16: 95,867,698 (GRCm39)	L149R	probably damaging	Het
Capn9	A	T	8: 125,303,017 (GRCm39)	D45V	probably damaging	Het
Card9	G	A	2: 26,248,847 (GRCm39)	R101C	probably damaging	Het
Ccdc87	A	G	19: 4,891,785 (GRCm39)	E759G	probably damaging	Het
Ccn1	T	C	3: 145,354,536 (GRCm39)	D125G	probably damaging	Het
Cep250	T	C	2: 155,806,997 (GRCm39)	M193T	probably damaging	Het
Cfap54	T	C	10: 92,656,966 (GRCm39)	K3029E	probably benign	Het
Chrna9	G	A	5: 66,134,484 (GRCm39)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,758,639 (GRCm39)	S367L	probably benign	Het
Col5a1	A	G	2: 27,819,498 (GRCm39)	D200G	unknown	Het
Crhr2	T	C	6: 55,069,112 (GRCm39)	N388D		Het
Cyp2b23	A	G	7: 26,380,838 (GRCm39)	L129P	probably benign	Het
Dctd	A	G	8: 48,565,075 (GRCm39)	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,908,881 (GRCm39)	V738L	probably benign	Het
Dnah17	C	T	11: 117,970,484 (GRCm39)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,720,932 (GRCm39)	A2819S	probably benign	Het
Dnai7	A	T	6: 145,123,132 (GRCm39)	L578Q	probably null	Het
Dot1l	A	G	10: 80,628,175 (GRCm39)	H1071R	unknown	Het
Dync2h1	T	A	9: 7,075,786 (GRCm39)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,307,272 (GRCm39)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,931,913 (GRCm39)	R29W	probably null	Het
Evc2	A	G	5: 37,567,602 (GRCm39)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,555,679 (GRCm39)		probably benign	Het
Fibp	T	A	19: 5,511,519 (GRCm39)	I129N	probably damaging	Het
Folh1	G	T	7: 86,375,320 (GRCm39)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 97,083,027 (GRCm39)	T108S	probably damaging	Het
H1f7	T	A	15: 98,154,250 (GRCm39)	K300*	probably null	Het
Hecw2	A	T	1: 53,904,280 (GRCm39)	V1156E	probably damaging	Het
Herc3	C	G	6: 58,864,409 (GRCm39)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,916,764 (GRCm39)	C20*	probably null	Het
Iho1	A	T	9: 108,294,619 (GRCm39)	D98E	probably benign	Het
Iqca1l	A	G	5: 24,753,954 (GRCm39)	V435A	possibly damaging	Het
Ivd	C	A	2: 118,700,255 (GRCm39)	T94K	probably damaging	Het
Kank2	C	T	9: 21,705,975 (GRCm39)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,417,562 (GRCm39)	Y889C	probably damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,747,497 (GRCm39)		probably benign	Het
Kmt5b	T	A	19: 3,865,412 (GRCm39)	D825E	probably benign	Het
Krt39	C	T	11: 99,411,697 (GRCm39)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,676,283 (GRCm39)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,804,204 (GRCm39)	V365E	probably benign	Het
Lonp1	C	T	17: 56,924,814 (GRCm39)	R531Q	probably damaging	Het
Mecom	T	A	3: 30,035,094 (GRCm39)	H194L	probably damaging	Het
Mlx	C	T	11: 100,980,068 (GRCm39)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,685,940 (GRCm39)	S77P	probably damaging	Het
Mst1	A	G	9: 107,962,130 (GRCm39)	E716G	probably null	Het
Mttp	C	T	3: 137,821,893 (GRCm39)	V210I	probably benign	Het
Mug2	T	C	6: 122,052,206 (GRCm39)	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336 (GRCm39)	M1T	probably null	Het
Neurog1	A	T	13: 56,399,563 (GRCm39)	N61K	probably benign	Het
Nlrp14	A	G	7: 106,784,021 (GRCm39)	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,149,258 (GRCm39)	N288K	probably benign	Het
Notch3	T	A	17: 32,363,191 (GRCm39)	H1264L	probably benign	Het
Or1e25	A	T	11: 73,493,562 (GRCm39)	D52V	possibly damaging	Het
Or1e34	A	T	11: 73,778,780 (GRCm39)	C139*	probably null	Het
Or3a1c	A	G	11: 74,046,606 (GRCm39)	M209V	probably benign	Het
Patl2	A	T	2: 121,952,263 (GRCm39)		probably null	Het
Pla2g4f	T	C	2: 120,135,035 (GRCm39)	E471G	probably null	Het
Postn	T	C	3: 54,270,056 (GRCm39)	V45A	probably damaging	Het
Ppan	T	A	9: 20,802,450 (GRCm39)	V257E	possibly damaging	Het
Ptcra	C	G	17: 47,074,522 (GRCm39)	A7P	probably damaging	Het
Ptprd	C	T	4: 75,984,577 (GRCm39)	R523H	probably damaging	Het
Pycr3	A	T	15: 75,790,544 (GRCm39)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,821,708 (GRCm39)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,746,028 (GRCm39)	K668*	probably null	Het
Ryr2	A	T	13: 11,655,213 (GRCm39)	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,683,697 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,381,364 (GRCm39)	S974T	probably damaging	Het
Semp2l2a	A	T	8: 13,886,982 (GRCm39)	W370R	probably damaging	Het
Setbp1	A	G	18: 79,130,175 (GRCm39)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,395,590 (GRCm39)		probably benign	Het
Sh3pxd2b	A	G	11: 32,372,072 (GRCm39)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,454,614 (GRCm39)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,135,274 (GRCm39)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,339,189 (GRCm39)	I109S	probably damaging	Het
Spart	T	C	3: 55,029,220 (GRCm39)		probably null	Het
Sptbn2	A	T	19: 4,799,488 (GRCm39)	Q2097L	probably null	Het
Syne1	T	C	10: 5,178,221 (GRCm39)	K4751R	probably damaging	Het
Tigit	C	A	16: 43,482,615 (GRCm39)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,348,247 (GRCm39)	I264K	probably damaging	Het
Tom1	T	A	8: 75,783,877 (GRCm39)	I287N	possibly damaging	Het
Top2a	G	A	11: 98,895,008 (GRCm39)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,728,410 (GRCm39)	V290E	probably damaging	Het
Try4	T	C	6: 41,281,337 (GRCm39)	I93T	probably benign	Het
Usp24	T	A	4: 106,239,500 (GRCm39)	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,130,745 (GRCm39)	R109S	probably benign	Het
Vav3	T	A	3: 109,571,662 (GRCm39)	F755I	probably damaging	Het
Vezt	A	T	10: 93,806,409 (GRCm39)	Y667*	probably null	Het
Vmn1r231	T	A	17: 21,110,140 (GRCm39)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,286,354 (GRCm39)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm39)	T449A	probably benign	Het
Zfp956	C	A	6: 47,932,781 (GRCm39)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,709,443 (GRCm39)	W152R	probably damaging	Het

Other mutations in Pfkfb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:Pfkfb4	APN	9	108,828,202 (GRCm39)	missense	probably damaging	1.00
IGL01978:Pfkfb4	APN	9	108,858,010 (GRCm39)	missense	probably damaging	1.00
IGL02119:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02121:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02122:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02123:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02125:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02126:Pfkfb4	APN	9	108,854,178 (GRCm39)	missense	probably damaging	1.00
IGL02506:Pfkfb4	APN	9	108,859,404 (GRCm39)	missense	probably benign	0.00
IGL02881:Pfkfb4	APN	9	108,836,364 (GRCm39)	missense	probably null	1.00
PIT4466001:Pfkfb4	UTSW	9	108,828,222 (GRCm39)	missense	probably benign	0.12
PIT4472001:Pfkfb4	UTSW	9	108,828,222 (GRCm39)	missense	probably benign	0.12
R0087:Pfkfb4	UTSW	9	108,836,769 (GRCm39)	missense	probably damaging	1.00
R0101:Pfkfb4	UTSW	9	108,839,711 (GRCm39)	missense	probably benign	0.03
R0109:Pfkfb4	UTSW	9	108,827,957 (GRCm39)	missense	probably benign	0.27
R0109:Pfkfb4	UTSW	9	108,827,957 (GRCm39)	missense	probably benign	0.27
R0379:Pfkfb4	UTSW	9	108,856,810 (GRCm39)	splice site	probably benign
R0511:Pfkfb4	UTSW	9	108,856,825 (GRCm39)	missense	probably damaging	1.00
R1146:Pfkfb4	UTSW	9	108,836,794 (GRCm39)	missense	probably benign	0.00
R1146:Pfkfb4	UTSW	9	108,836,794 (GRCm39)	missense	probably benign	0.00
R1490:Pfkfb4	UTSW	9	108,856,688 (GRCm39)	missense	probably damaging	1.00
R1521:Pfkfb4	UTSW	9	108,836,373 (GRCm39)	missense	probably damaging	1.00
R1932:Pfkfb4	UTSW	9	108,828,237 (GRCm39)	missense	probably damaging	1.00
R2214:Pfkfb4	UTSW	9	108,834,677 (GRCm39)	missense	probably benign	0.17
R3112:Pfkfb4	UTSW	9	108,854,110 (GRCm39)	splice site	probably benign
R5470:Pfkfb4	UTSW	9	108,856,661 (GRCm39)	missense	probably damaging	1.00
R5646:Pfkfb4	UTSW	9	108,837,489 (GRCm39)	missense	probably damaging	1.00
R5930:Pfkfb4	UTSW	9	108,859,462 (GRCm39)	unclassified	probably benign
R6139:Pfkfb4	UTSW	9	108,856,825 (GRCm39)	missense	probably damaging	1.00
R6632:Pfkfb4	UTSW	9	108,838,630 (GRCm39)	splice site	probably null
R6873:Pfkfb4	UTSW	9	108,839,403 (GRCm39)	splice site	probably null
R6958:Pfkfb4	UTSW	9	108,839,615 (GRCm39)	missense	probably damaging	1.00
R7098:Pfkfb4	UTSW	9	108,828,222 (GRCm39)	missense	probably benign	0.05
R7148:Pfkfb4	UTSW	9	108,856,676 (GRCm39)	missense	probably damaging	0.99
R7284:Pfkfb4	UTSW	9	108,840,308 (GRCm39)	missense	possibly damaging	0.88
R7903:Pfkfb4	UTSW	9	108,828,019 (GRCm39)	missense	probably damaging	1.00
R7973:Pfkfb4	UTSW	9	108,854,179 (GRCm39)	missense	probably damaging	1.00
R8506:Pfkfb4	UTSW	9	108,834,667 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GCTAGATTTCTCTGGTCGCAG -3'
(R):5'- AGGAAGGGAAACTGCACCTC -3'

Sequencing Primer
(F):5'- CTCTGGTCGCAGGTGAATC -3'
(R):5'- GGGAAACTGCACCTCCCTCTC -3'

Posted On

2019-05-15