Incidental Mutation 'IGL00662:Khk'
ID 11604
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: 0.127) question?
Stock # IGL00662
Quality Score
Status
Chromosome 5
Chromosomal Location 31078780-31088592 bp(+) (GRCm39)
Type of Mutation critical splice donor site (8 bp from exon)
DNA Base Change (assembly) T to C at 31087019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000031053
SMART Domains Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
Pfam:PfkB 3 293 5.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117435
SMART Domains Protein: ENSMUSP00000114064
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:PfkB 3 294 1.5e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202752
SMART Domains Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 100,939,103 (GRCm39) N587S probably benign Het
Bcar3 C T 3: 122,306,585 (GRCm39) A186V probably benign Het
Bcr A T 10: 75,003,932 (GRCm39) probably benign Het
Cd207 A G 6: 83,652,908 (GRCm39) I74T possibly damaging Het
Cenpn T C 8: 117,655,326 (GRCm39) probably null Het
Chuk A T 19: 44,085,649 (GRCm39) F228I possibly damaging Het
Cmss1 T C 16: 57,124,092 (GRCm39) D233G probably damaging Het
Copg1 C T 6: 87,879,352 (GRCm39) T466I possibly damaging Het
Ctsll3 A G 13: 60,946,756 (GRCm39) S288P probably benign Het
Fat3 T A 9: 15,907,723 (GRCm39) I2760F possibly damaging Het
Gpi1 A G 7: 33,915,375 (GRCm39) probably benign Het
Il18rap C T 1: 40,581,081 (GRCm39) R318C probably benign Het
Kcnk9 A G 15: 72,417,924 (GRCm39) S69P probably benign Het
Kctd18 T C 1: 57,995,897 (GRCm39) T127A probably damaging Het
Ncapg T A 5: 45,850,502 (GRCm39) S703T possibly damaging Het
Nup98 T A 7: 101,844,194 (GRCm39) N47I probably damaging Het
Rad1 A G 15: 10,490,495 (GRCm39) N154S probably benign Het
Rigi A G 4: 40,220,389 (GRCm39) probably benign Het
Slc35f5 T A 1: 125,515,161 (GRCm39) L438H probably damaging Het
Slc7a2 A G 8: 41,358,659 (GRCm39) Y334C possibly damaging Het
Spata17 T C 1: 186,849,536 (GRCm39) N124S probably benign Het
Tfap2c T C 2: 172,393,438 (GRCm39) Y118H probably damaging Het
Tnpo3 A T 6: 29,565,845 (GRCm39) L503* probably null Het
Utrn C T 10: 12,540,705 (GRCm39) E1907K probably damaging Het
Vav3 T A 3: 109,435,708 (GRCm39) probably benign Het
Vps13a T A 19: 16,681,904 (GRCm39) K1033I probably damaging Het
Zfp202 A G 9: 40,122,339 (GRCm39) N367S probably benign Het
Other mutations in Khk
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06