Mutagenetix > Incidental Mutation

Incidental Mutation 'R3816:Khk'

274295

Institutional Source

Beutler Lab

Gene Symbol

Khk

Ensembl Gene

ENSMUSG00000029162

Gene Name

ketohexokinase

Synonyms

MMRRC Submission

040881-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R3816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31078780-31088592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31084060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 80 (S80P)

Ref Sequence

ENSEMBL: ENSMUSP00000031053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031053] [ENSMUST00000201571] [ENSMUST00000201621] [ENSMUST00000202752]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031053
AA Change: S80P

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

SMART Domains

Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162
AA Change: S80P

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	293	5.7e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117435
AA Change: S80P

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

SMART Domains

Protein: ENSMUSP00000114064
Gene: ENSMUSG00000029162
AA Change: S80P

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	113	4.2e-15	PFAM
Pfam:PfkB	112	339	1e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200978

Predicted Effect

probably benign
Transcript: ENSMUST00000201571

SMART Domains

Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	70	2.4e-5	PFAM
Pfam:PfkB	65	249	4.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201621

SMART Domains

Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	294	1.5e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202752
AA Change: S80P

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162
AA Change: S80P

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	243	5.8e-18	PFAM

Meta Mutation Damage Score

0.4089

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for alleles that do not produce isoform A or isoforms A and C exhibit normal fertility, development, blood chemistry, and tissue metabolite levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Abca2	A	G	2: 25,336,083 (GRCm39)	Y2151C	probably damaging	Het
Adamts3	T	A	5: 89,853,123 (GRCm39)	H509L	probably damaging	Het
Agfg2	T	C	5: 137,652,036 (GRCm39)	D441G	probably benign	Het
Arl8b	T	A	6: 108,790,658 (GRCm39)	V65D	probably damaging	Het
As3mt	A	T	19: 46,696,216 (GRCm39)	D8V	probably benign	Het
Ass1	G	T	2: 31,400,117 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,972,451 (GRCm39)	I634V	possibly damaging	Het
Cflar	T	C	1: 58,791,582 (GRCm39)	V298A	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Dlec1	C	T	9: 118,953,911 (GRCm39)	A610V	probably damaging	Het
Dock1	C	T	7: 134,346,015 (GRCm39)	R186*	probably null	Het
E130018O15Rik	T	C	5: 35,540,110 (GRCm39)		noncoding transcript	Het
Gabrg3	G	A	7: 57,031,412 (GRCm39)	Q43*	probably null	Het
Gipc2	T	C	3: 151,871,481 (GRCm39)	K15R	probably benign	Het
Gjb2	A	G	14: 57,337,530 (GRCm39)	V226A	probably benign	Het
Glipr2	G	T	4: 43,977,522 (GRCm39)	A51S	possibly damaging	Het
Gsdme	A	C	6: 50,196,391 (GRCm39)	S340A	probably benign	Het
H2-M10.2	A	T	17: 36,597,254 (GRCm39)	Y20*	probably null	Het
Hapstr1	T	A	16: 8,648,358 (GRCm39)	I12N	probably damaging	Het
Hlcs	A	G	16: 93,933,947 (GRCm39)	V242A	probably benign	Het
Ifi44	T	C	3: 151,454,894 (GRCm39)	I110M	possibly damaging	Het
Il18r1	T	C	1: 40,526,132 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo1g	A	G	11: 6,460,926 (GRCm39)	V706A	probably benign	Het
Npat	T	C	9: 53,481,216 (GRCm39)	S1008P	probably damaging	Het
Or2ag18	A	G	7: 106,405,027 (GRCm39)	I214T	probably damaging	Het
Or5p59	A	G	7: 107,702,705 (GRCm39)	Y63C	possibly damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Or8b55	A	G	9: 38,727,722 (GRCm39)	K308E	possibly damaging	Het
Pcdha2	A	G	18: 37,074,748 (GRCm39)	Y793C	probably benign	Het
Pcdhb4	A	T	18: 37,441,065 (GRCm39)	D125V	probably damaging	Het
Pdgfrb	A	G	18: 61,212,017 (GRCm39)	D844G	probably damaging	Het
Phf3	T	C	1: 30,844,834 (GRCm39)	D1375G	probably damaging	Het
Pigu	A	T	2: 155,141,063 (GRCm39)	F276I	probably damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Psmd9	C	T	5: 123,372,653 (GRCm39)		probably benign	Het
Rac2	T	C	15: 78,450,199 (GRCm39)	D47G	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall1	G	T	8: 89,759,303 (GRCm39)	A267E	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpina3k	A	G	12: 104,307,221 (GRCm39)	E151G	probably benign	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Slc51b	A	G	9: 65,321,300 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Sspo	A	T	6: 48,458,037 (GRCm39)	E3269V	possibly damaging	Het
Star	G	A	8: 26,299,905 (GRCm39)	M82I	probably benign	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Usp32	A	G	11: 84,885,210 (GRCm39)		probably null	Het
Vmn2r18	T	C	5: 151,485,148 (GRCm39)	N782S	probably benign	Het
Vwa3a	A	G	7: 120,399,602 (GRCm39)	T1028A	probably benign	Het
Xrn2	G	A	2: 146,870,120 (GRCm39)	G270R	probably damaging	Het
Zbbx	G	T	3: 74,992,802 (GRCm39)	Q231K	probably benign	Het

Other mutations in Khk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Khk	APN	5	31,087,019 (GRCm39)	critical splice donor site	probably benign	0.00
IGL01551:Khk	APN	5	31,082,189 (GRCm39)	missense	probably benign	0.00
IGL02351:Khk	APN	5	31,085,848 (GRCm39)	missense	probably damaging	1.00
IGL02358:Khk	APN	5	31,085,848 (GRCm39)	missense	probably damaging	1.00
IGL03355:Khk	APN	5	31,086,904 (GRCm39)	missense	probably benign	0.44
R1608:Khk	UTSW	5	31,087,938 (GRCm39)	missense	probably damaging	1.00
R1916:Khk	UTSW	5	31,087,962 (GRCm39)	missense	probably damaging	1.00
R3855:Khk	UTSW	5	31,084,401 (GRCm39)	missense	probably benign	0.04
R5033:Khk	UTSW	5	31,087,004 (GRCm39)	missense	probably damaging	1.00
R5310:Khk	UTSW	5	31,084,373 (GRCm39)	missense	probably benign	0.08
R5843:Khk	UTSW	5	31,079,275 (GRCm39)	missense	possibly damaging	0.55
R5878:Khk	UTSW	5	31,088,219 (GRCm39)	critical splice donor site	probably null
R8719:Khk	UTSW	5	31,088,374 (GRCm39)	missense	possibly damaging	0.88
R9174:Khk	UTSW	5	31,085,819 (GRCm39)	missense	probably benign	0.38
R9222:Khk	UTSW	5	31,079,141 (GRCm39)	unclassified	probably benign
R9640:Khk	UTSW	5	31,079,303 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGATATCCAGGCTCTGCAC -3'
(R):5'- CTGTCTGGAGAGTGCAGTATAG -3'

Sequencing Primer
(F):5'- TGCTCCCACCTGTGACAAG -3'
(R):5'- AGTGCAGTATAGTGATGGCC -3'

Posted On

2015-04-02