Incidental Mutation 'IGL02351:Khk'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Khk
Ensembl Gene ENSMUSG00000029162
Gene Nameketohexokinase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #IGL02351
Quality Score
Chromosomal Location30921431-30931248 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 30928504 bp
Amino Acid Change Isoleucine to Phenylalanine at position 136 (I136F)
Ref Sequence ENSEMBL: ENSMUSP00000143850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031051] [ENSMUST00000031053] [ENSMUST00000201571] [ENSMUST00000201621] [ENSMUST00000202752]
Predicted Effect probably benign
Transcript: ENSMUST00000031051
SMART Domains Protein: ENSMUSP00000031051
Gene: ENSMUSG00000029161

low complexity region 6 24 N/A INTRINSIC
low complexity region 28 44 N/A INTRINSIC
low complexity region 50 63 N/A INTRINSIC
SCOP:d2pvba_ 113 188 1e-4 SMART
Blast:EFh 120 148 1e-9 BLAST
Blast:EFh 164 189 4e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000031053
AA Change: I181F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162
AA Change: I181F

Pfam:PfkB 3 293 5.7e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200978
Predicted Effect probably damaging
Transcript: ENSMUST00000201571
AA Change: I91F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162
AA Change: I91F

Pfam:PfkB 3 70 2.4e-5 PFAM
Pfam:PfkB 65 249 4.5e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201621
AA Change: I136F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162
AA Change: I136F

Pfam:PfkB 3 294 1.5e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000202752
AA Change: I136F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162
AA Change: I136F

Pfam:PfkB 3 243 5.8e-18 PFAM
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,654,055 T448A possibly damaging Het
Adamtsl1 T A 4: 86,156,873 probably null Het
Adgra3 A G 5: 50,058,558 V73A probably benign Het
Aggf1 T C 13: 95,352,850 probably benign Het
Aktip C T 8: 91,126,892 V96I possibly damaging Het
Atm A G 9: 53,522,176 I258T probably benign Het
Baz1b C T 5: 135,244,306 T1428I probably damaging Het
C3ar1 A T 6: 122,849,975 Y428N probably damaging Het
C87499 A T 4: 88,627,890 I405N probably damaging Het
Cadps A G 14: 12,597,380 S437P probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cbwd1 A T 19: 24,931,662 probably null Het
Cenpq A G 17: 40,924,332 L213P probably damaging Het
Cept1 A G 3: 106,539,188 probably null Het
Cln6 A G 9: 62,847,125 I150V probably benign Het
Cyb5r3 T C 15: 83,160,935 T94A probably benign Het
Cyp2c67 A G 19: 39,617,417 M345T probably damaging Het
Dapk2 T A 9: 66,246,523 I187N probably damaging Het
Dkk2 A G 3: 132,177,912 D191G probably benign Het
Dnah8 T A 17: 30,767,811 F3145I probably damaging Het
Dock1 A C 7: 135,108,819 D1190A possibly damaging Het
Ehhadh T A 16: 21,762,870 L457F probably damaging Het
Ercc6l2 T C 13: 63,853,683 L552P probably damaging Het
Ghrhr T G 6: 55,384,153 I284S probably damaging Het
Gm10288 A T 3: 146,839,199 noncoding transcript Het
Gp6 T G 7: 4,394,508 I19L probably benign Het
Gria4 G A 9: 4,456,206 S698L possibly damaging Het
Ifng A T 10: 118,442,505 I53F possibly damaging Het
Kazn A C 4: 142,147,016 probably null Het
Lnx1 T A 5: 74,627,366 N98Y probably damaging Het
Lsp1 T C 7: 142,488,942 probably null Het
Lta4h A T 10: 93,478,467 N467I probably benign Het
Mcmbp C A 7: 128,709,781 probably null Het
Me2 A T 18: 73,797,967 I85K probably benign Het
Muc4 C T 16: 32,750,986 T288I possibly damaging Het
Nadsyn1 A T 7: 143,799,912 Y525N probably damaging Het
Nt5e G A 9: 88,327,893 V70M probably damaging Het
Olfr677 G A 7: 105,056,975 G243D probably damaging Het
Olfr827 T G 10: 130,210,734 Y132S probably damaging Het
Olfr883 A T 9: 38,026,036 I77L possibly damaging Het
Pkd1l3 A G 8: 109,646,497 probably benign Het
Ppm1d A T 11: 85,345,715 E440V probably damaging Het
Ripor2 A T 13: 24,731,589 E1047D probably damaging Het
Rwdd2b G A 16: 87,437,448 A18V probably benign Het
Serpina5 G T 12: 104,102,125 K148N probably damaging Het
Setx A G 2: 29,146,964 K1154E probably benign Het
Skap1 T A 11: 96,708,556 probably null Het
Spcs2 T C 7: 99,849,034 K81R probably damaging Het
Stt3b T A 9: 115,250,907 M646L possibly damaging Het
Suco T C 1: 161,818,626 T1169A probably benign Het
Susd1 A T 4: 59,427,985 Y66* probably null Het
Trim34a T A 7: 104,261,234 C414* probably null Het
Trim58 G A 11: 58,651,350 G379S probably damaging Het
Vmn2r50 T A 7: 10,053,075 Q35L probably benign Het
Zfp418 T C 7: 7,174,691 probably benign Het
Zfp57 G A 17: 37,010,027 V258I probably benign Het
Other mutations in Khk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Khk APN 5 30929675 critical splice donor site probably benign 0.00
IGL01551:Khk APN 5 30924845 missense probably benign 0.00
IGL02358:Khk APN 5 30928504 missense probably damaging 1.00
IGL03355:Khk APN 5 30929560 missense probably benign 0.44
R1608:Khk UTSW 5 30930594 missense probably damaging 1.00
R1916:Khk UTSW 5 30930618 missense probably damaging 1.00
R3816:Khk UTSW 5 30926716 missense probably damaging 1.00
R3855:Khk UTSW 5 30927057 missense probably benign 0.04
R5033:Khk UTSW 5 30929660 missense probably damaging 1.00
R5310:Khk UTSW 5 30927029 missense probably benign 0.08
R5843:Khk UTSW 5 30921931 missense possibly damaging 0.55
R5878:Khk UTSW 5 30930875 critical splice donor site probably null
Posted On2015-04-16