Incidental Mutation 'IGL02358:Khk'
ID 290358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Khk
Ensembl Gene ENSMUSG00000029162
Gene Name ketohexokinase
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL02358
Quality Score
Status
Chromosome 5
Chromosomal Location 31078780-31088592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31085848 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031051
SMART Domains Protein: ENSMUSP00000031051
Gene: ENSMUSG00000029161

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,474,418 (GRCm39) T448A possibly damaging Het
Adamtsl1 T A 4: 86,075,110 (GRCm39) probably null Het
Adgra3 A G 5: 50,215,900 (GRCm39) V73A probably benign Het
Adgre4 G A 17: 56,150,209 (GRCm39) R600Q probably benign Het
Aggf1 T C 13: 95,489,358 (GRCm39) probably benign Het
Aktip C T 8: 91,853,520 (GRCm39) V96I possibly damaging Het
Atm A G 9: 53,433,476 (GRCm39) I258T probably benign Het
Baz1b C T 5: 135,273,160 (GRCm39) T1428I probably damaging Het
C3ar1 A T 6: 122,826,934 (GRCm39) Y428N probably damaging Het
Cadps A G 14: 12,597,380 (GRCm38) S437P probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cenpq A G 17: 41,235,223 (GRCm39) L213P probably damaging Het
Cept1 A G 3: 106,446,504 (GRCm39) probably null Het
Cln6 A G 9: 62,754,407 (GRCm39) I150V probably benign Het
Cyb5r3 T C 15: 83,045,136 (GRCm39) T94A probably benign Het
Cyp2c67 A G 19: 39,605,861 (GRCm39) M345T probably damaging Het
Dapk2 T A 9: 66,153,805 (GRCm39) I187N probably damaging Het
Dkk2 A G 3: 131,883,673 (GRCm39) D191G probably benign Het
Dnah8 T A 17: 30,986,785 (GRCm39) F3145I probably damaging Het
Dock1 A C 7: 134,710,548 (GRCm39) D1190A possibly damaging Het
Ehhadh T A 16: 21,581,620 (GRCm39) L457F probably damaging Het
Ercc6l2 T C 13: 64,001,497 (GRCm39) L552P probably damaging Het
Ghrhr T G 6: 55,361,138 (GRCm39) I284S probably damaging Het
Gm10288 A T 3: 146,544,954 (GRCm39) noncoding transcript Het
Gp6 T G 7: 4,397,507 (GRCm39) I19L probably benign Het
Gria4 G A 9: 4,456,206 (GRCm39) S698L possibly damaging Het
Ifng A T 10: 118,278,410 (GRCm39) I53F possibly damaging Het
Kazn A C 4: 141,874,327 (GRCm39) probably null Het
Krtap9-3 T A 11: 99,488,885 (GRCm39) probably benign Het
Lnx1 T A 5: 74,788,027 (GRCm39) N98Y probably damaging Het
Lsp1 T C 7: 142,042,679 (GRCm39) probably null Het
Lta4h A T 10: 93,314,329 (GRCm39) N467I probably benign Het
Mcmbp C A 7: 128,311,505 (GRCm39) probably null Het
Me2 A T 18: 73,931,038 (GRCm39) I85K probably benign Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Nadsyn1 A T 7: 143,353,649 (GRCm39) Y525N probably damaging Het
Nt5e G A 9: 88,209,946 (GRCm39) V70M probably damaging Het
Or52e4 G A 7: 104,706,182 (GRCm39) G243D probably damaging Het
Or8b36 A T 9: 37,937,332 (GRCm39) I77L possibly damaging Het
Or9k7 T G 10: 130,046,603 (GRCm39) Y132S probably damaging Het
Pkd1l3 A G 8: 110,373,129 (GRCm39) probably benign Het
Ppm1d A T 11: 85,236,541 (GRCm39) E440V probably damaging Het
Pramel32 A T 4: 88,546,127 (GRCm39) I405N probably damaging Het
Ripor2 A T 13: 24,915,572 (GRCm39) E1047D probably damaging Het
Rwdd2b G A 16: 87,234,336 (GRCm39) A18V probably benign Het
Serpina5 G T 12: 104,068,384 (GRCm39) K148N probably damaging Het
Setx A G 2: 29,036,976 (GRCm39) K1154E probably benign Het
Spata31 T A 13: 65,069,032 (GRCm39) N393K probably benign Het
Spcs2 T C 7: 99,498,241 (GRCm39) K81R probably damaging Het
Stt3b T A 9: 115,079,975 (GRCm39) M646L possibly damaging Het
Suco T C 1: 161,646,195 (GRCm39) T1169A probably benign Het
Susd1 A T 4: 59,427,985 (GRCm39) Y66* probably null Het
Trim34a T A 7: 103,910,441 (GRCm39) C414* probably null Het
Trim58 G A 11: 58,542,176 (GRCm39) G379S probably damaging Het
Vmn2r50 T A 7: 9,787,002 (GRCm39) Q35L probably benign Het
Zc3hc1 C A 6: 30,376,057 (GRCm39) G168W probably benign Het
Zfp418 T C 7: 7,177,690 (GRCm39) probably benign Het
Zfp57 G A 17: 37,320,919 (GRCm39) V258I probably benign Het
Zng1 A T 19: 24,909,026 (GRCm39) probably null Het
Other mutations in Khk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R3816:Khk UTSW 5 31,084,060 (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
Posted On 2015-04-16