Incidental Mutation 'R9303:Kynu'
ID 705044
Institutional Source Beutler Lab
Gene Symbol Kynu
Ensembl Gene ENSMUSG00000026866
Gene Name kynureninase
Synonyms L-kynurenine hydrolase, 4432411A05Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9303 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 43445341-43572734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43569768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 350 (F350Y)
Ref Sequence ENSEMBL: ENSMUSP00000028223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028223] [ENSMUST00000112826]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028223
AA Change: F350Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028223
Gene: ENSMUSG00000026866
AA Change: F350Y

DomainStartEndE-ValueType
Pfam:Aminotran_5 70 400 3.8e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112826
AA Change: F350Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108445
Gene: ENSMUSG00000026866
AA Change: F350Y

DomainStartEndE-ValueType
Pfam:Aminotran_5 70 405 8.4e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,989 (GRCm39) I1227V probably benign Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adamts17 T C 7: 66,489,645 (GRCm39) L21P probably damaging Het
Adcy1 T C 11: 7,094,766 (GRCm39) V564A probably damaging Het
Adgre1 A G 17: 57,748,275 (GRCm39) N492D probably benign Het
Aldh1b1 G A 4: 45,803,811 (GRCm39) V450M probably damaging Het
Arv1 T A 8: 125,457,685 (GRCm39) H196Q probably damaging Het
Atp9a A T 2: 168,517,163 (GRCm39) I390N probably benign Het
Bltp1 A G 3: 37,098,969 (GRCm39) I1277V Het
Capn10 T C 1: 92,871,665 (GRCm39) probably null Het
Casq2 A G 3: 102,052,700 (GRCm39) D404G unknown Het
Cenpf T C 1: 189,392,271 (GRCm39) probably null Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Chmp4c T G 3: 10,454,974 (GRCm39) S214A probably benign Het
Chrna5 T C 9: 54,912,156 (GRCm39) F319L probably benign Het
Csmd1 G T 8: 16,011,532 (GRCm39) T2507K probably benign Het
Ctnnd2 T C 15: 30,967,037 (GRCm39) M996T probably damaging Het
Dbf4 T C 5: 8,448,102 (GRCm39) T328A unknown Het
Ddc C T 11: 11,779,132 (GRCm39) V331I probably benign Het
Fads2b A T 2: 85,330,649 (GRCm39) C219* probably null Het
Fat1 T A 8: 45,463,498 (GRCm39) W1347R probably damaging Het
Fbxw21 A G 9: 108,986,727 (GRCm39) F51L probably benign Het
Gng2 G T 14: 19,925,961 (GRCm39) H44N probably damaging Het
Hps5 G A 7: 46,438,619 (GRCm39) T38I possibly damaging Het
Igf2 G A 7: 142,208,153 (GRCm39) R64C probably damaging Het
Inpp4b C T 8: 82,759,758 (GRCm39) A601V probably damaging Het
Kdm2a A G 19: 4,395,606 (GRCm39) Y342H probably benign Het
Kidins220 C A 12: 25,107,110 (GRCm39) T1430K probably benign Het
Knl1 T C 2: 118,898,829 (GRCm39) C177R possibly damaging Het
Krt32 T C 11: 99,972,029 (GRCm39) T440A probably benign Het
Lama4 T C 10: 38,973,137 (GRCm39) L1568P probably damaging Het
Lrp1b A T 2: 41,618,574 (GRCm39) S281T Het
Or2y3 A T 17: 38,393,629 (GRCm39) V80D probably damaging Het
Or5h23 A G 16: 58,906,802 (GRCm39) S15P probably benign Het
Or8c19-ps1 C T 9: 38,220,463 (GRCm39) T124M probably benign Het
Orc3 G A 4: 34,607,181 (GRCm39) R50* probably null Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Parp4 TG T 14: 56,832,790 (GRCm39) probably null Het
Parp4 T C 14: 56,852,224 (GRCm39) probably null Het
Pcdhb18 A C 18: 37,625,004 (GRCm39) H778P probably benign Het
Polg A T 7: 79,105,860 (GRCm39) Y710N probably benign Het
Ppp2r2b C A 18: 42,779,025 (GRCm39) R370L possibly damaging Het
Raet1e C T 10: 22,057,872 (GRCm39) T213I possibly damaging Het
Reln T A 5: 22,193,705 (GRCm39) S1418C possibly damaging Het
Reln T C 5: 22,285,689 (GRCm39) S427G probably benign Het
Rhobtb2 G A 14: 70,025,376 (GRCm39) H633Y probably damaging Het
Serpina3i T C 12: 104,234,881 (GRCm39) V404A probably damaging Het
Serpinb8 T C 1: 107,526,769 (GRCm39) probably null Het
Sorl1 G T 9: 41,900,739 (GRCm39) Q1658K probably damaging Het
Tmem26 G A 10: 68,559,816 (GRCm39) W29* probably null Het
Togaram2 A G 17: 71,996,408 (GRCm39) E137G probably damaging Het
Ttc39b A G 4: 83,151,023 (GRCm39) L524S probably damaging Het
Usp43 T C 11: 67,767,345 (GRCm39) N675S probably damaging Het
Vmn2r104 A G 17: 20,268,439 (GRCm39) L10P possibly damaging Het
Zbtb1 G A 12: 76,432,773 (GRCm39) R253Q probably damaging Het
Zfp354b T A 11: 50,820,256 (GRCm39) R36S probably damaging Het
Other mutations in Kynu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Kynu APN 2 43,561,394 (GRCm39) missense possibly damaging 0.91
IGL01974:Kynu APN 2 43,571,352 (GRCm39) unclassified probably benign
R0099:Kynu UTSW 2 43,519,065 (GRCm39) critical splice donor site probably null
R0304:Kynu UTSW 2 43,569,893 (GRCm39) missense probably damaging 0.99
R1681:Kynu UTSW 2 43,569,837 (GRCm39) missense probably damaging 1.00
R1799:Kynu UTSW 2 43,494,169 (GRCm39) missense possibly damaging 0.65
R2016:Kynu UTSW 2 43,494,289 (GRCm39) nonsense probably null
R2345:Kynu UTSW 2 43,471,397 (GRCm39) missense probably damaging 1.00
R3085:Kynu UTSW 2 43,492,312 (GRCm39) missense probably benign 0.00
R3825:Kynu UTSW 2 43,571,451 (GRCm39) missense probably benign
R4091:Kynu UTSW 2 43,569,884 (GRCm39) missense possibly damaging 0.94
R4241:Kynu UTSW 2 43,571,422 (GRCm39) missense probably benign 0.00
R4594:Kynu UTSW 2 43,569,902 (GRCm39) missense probably benign 0.00
R4673:Kynu UTSW 2 43,569,815 (GRCm39) missense probably damaging 1.00
R4871:Kynu UTSW 2 43,569,830 (GRCm39) missense possibly damaging 0.58
R5371:Kynu UTSW 2 43,479,406 (GRCm39) missense probably benign 0.00
R6272:Kynu UTSW 2 43,525,001 (GRCm39) missense probably benign 0.01
R6342:Kynu UTSW 2 43,571,463 (GRCm39) missense probably benign 0.09
R6866:Kynu UTSW 2 43,453,122 (GRCm39) nonsense probably null
R7203:Kynu UTSW 2 43,571,365 (GRCm39) missense probably damaging 1.00
R8163:Kynu UTSW 2 43,518,966 (GRCm39) missense probably damaging 1.00
R9024:Kynu UTSW 2 43,490,807 (GRCm39) missense possibly damaging 0.62
R9089:Kynu UTSW 2 43,489,620 (GRCm39) missense probably damaging 1.00
R9305:Kynu UTSW 2 43,569,768 (GRCm39) missense probably damaging 0.99
R9506:Kynu UTSW 2 43,571,414 (GRCm39) missense probably damaging 1.00
R9702:Kynu UTSW 2 43,479,469 (GRCm39) missense probably damaging 1.00
R9759:Kynu UTSW 2 43,569,881 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCACACATATTTGCTGTCATGG -3'
(R):5'- AAAACGCTTTTCTTGGGAATGG -3'

Sequencing Primer
(F):5'- GCTGTCATGGAAACTACCTTTG -3'
(R):5'- CTTTTCTTGGGAATGGAAAAGGTGAG -3'
Posted On 2022-03-25