Incidental Mutation 'IGL03355:Khk'
ID 419918
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 # IGL03355
Quality Score
Status
Chromosome 5
Chromosomal Location 31078780-31088592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31086904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 108 (I108L)
Ref Sequence ENSEMBL: ENSMUSP00000144226 (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 benign
Transcript: ENSMUST00000031053
AA Change: I198L

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162
AA Change: I198L

DomainStartEndE-ValueType
Pfam:PfkB 3 293 5.7e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200978
Predicted Effect probably benign
Transcript: ENSMUST00000201571
AA Change: I108L

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162
AA Change: I108L

DomainStartEndE-ValueType
Pfam:PfkB 3 70 2.4e-5 PFAM
Pfam:PfkB 65 249 4.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201621
AA Change: I153L

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162
AA Change: I153L

DomainStartEndE-ValueType
Pfam:PfkB 3 294 1.5e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202752
AA Change: I153L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162
AA Change: I153L

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt1 T C X: 45,418,624 (GRCm39) V213A probably benign Het
Adam28 A T 14: 68,872,252 (GRCm39) probably benign Het
Apeh T C 9: 107,963,644 (GRCm39) H557R probably benign Het
Atmin T A 8: 117,684,164 (GRCm39) L608* probably null Het
B3gnt5 A T 16: 19,587,903 (GRCm39) M41L probably benign Het
Best3 T C 10: 116,829,010 (GRCm39) F97L possibly damaging Het
Chmp1b2 C A X: 106,831,889 (GRCm39) V180F possibly damaging Het
Col7a1 G A 9: 108,807,228 (GRCm39) V2486M unknown Het
Crym T C 7: 119,798,536 (GRCm39) probably null Het
Cubn T C 2: 13,482,868 (GRCm39) probably null Het
Dnah7b A G 1: 46,158,464 (GRCm39) D349G probably benign Het
Eea1 T C 10: 95,878,074 (GRCm39) probably benign Het
Emc1 C T 4: 139,098,904 (GRCm39) probably benign Het
Eps8 T C 6: 137,489,143 (GRCm39) probably benign Het
Ereg A G 5: 91,236,440 (GRCm39) probably benign Het
Faah G A 4: 115,859,725 (GRCm39) P369S probably benign Het
Fam135a A T 1: 24,068,249 (GRCm39) N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 (GRCm39) S622P probably damaging Het
Gm10030 A G 9: 110,835,841 (GRCm39) noncoding transcript Het
Gpr179 A T 11: 97,228,434 (GRCm39) S1240R possibly damaging Het
Hax1 A T 3: 89,904,754 (GRCm39) H146Q possibly damaging Het
Ift46 A G 9: 44,693,445 (GRCm39) N31D possibly damaging Het
Kel C T 6: 41,675,821 (GRCm39) probably null Het
Morc4 T C X: 138,750,431 (GRCm39) N375S probably null Het
Mta3 A T 17: 84,107,474 (GRCm39) probably benign Het
Nacc2 T C 2: 25,952,249 (GRCm39) K369R probably damaging Het
Nkap T C X: 36,403,323 (GRCm39) probably benign Het
Obscn A T 11: 58,928,618 (GRCm39) L6016Q probably damaging Het
Or52e2 T C 7: 102,804,408 (GRCm39) E182G probably damaging Het
Or8c9 A T 9: 38,240,952 (GRCm39) Q20L probably benign Het
Pde4c T A 8: 71,199,244 (GRCm39) L182Q probably damaging Het
Pla2g10 G T 16: 13,548,284 (GRCm39) probably null Het
Rap1gap2 T A 11: 74,303,170 (GRCm39) I426F probably damaging Het
Rbm33 C A 5: 28,596,059 (GRCm39) probably benign Het
Rnf139 C A 15: 58,771,881 (GRCm39) D635E probably benign Het
Sar1a T C 10: 61,520,718 (GRCm39) V15A possibly damaging Het
Scarb1 A C 5: 125,366,766 (GRCm39) S56A probably benign Het
Scn3a T C 2: 65,290,912 (GRCm39) K1945E possibly damaging Het
Sec62 G A 3: 30,864,071 (GRCm39) G118R unknown Het
Sgce T A 6: 4,689,738 (GRCm39) Q356L probably damaging Het
Slco4c1 A T 1: 96,770,232 (GRCm39) Y277* probably null Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Sphkap A T 1: 83,258,224 (GRCm39) I173N probably damaging Het
Spred3 C T 7: 28,860,997 (GRCm39) C394Y unknown Het
Stra6l A G 4: 45,873,689 (GRCm39) D283G probably benign Het
Tipin A T 9: 64,195,406 (GRCm39) Q4L probably benign Het
Tmprss11c T A 5: 86,379,730 (GRCm39) I380F probably benign Het
Tymp T C 15: 89,259,219 (GRCm39) D195G possibly damaging Het
Ugt2b34 T A 5: 87,054,544 (GRCm39) Y79F probably benign Het
Vmn2r16 T A 5: 109,511,580 (GRCm39) S596T possibly damaging Het
Wdhd1 A G 14: 47,481,346 (GRCm39) S1024P possibly damaging 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
IGL02358:Khk APN 5 31,085,848 (GRCm39) missense probably damaging 1.00
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 2016-08-02