Incidental Mutation 'R0099:Kynu'
ID33132
Institutional Source Beutler Lab
Gene Symbol Kynu
Ensembl Gene ENSMUSG00000026866
Gene Namekynureninase (L-kynurenine hydrolase)
Synonyms
MMRRC Submission 038385-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0099 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location43555329-43682715 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 43629053 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028223] [ENSMUST00000050511] [ENSMUST00000112826]
Predicted Effect probably null
Transcript: ENSMUST00000028223
SMART Domains Protein: ENSMUSP00000028223
Gene: ENSMUSG00000026866

DomainStartEndE-ValueType
Pfam:Aminotran_5 70 400 3.8e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000050511
SMART Domains Protein: ENSMUSP00000061775
Gene: ENSMUSG00000026866

DomainStartEndE-ValueType
Pfam:Aminotran_5 70 307 7.8e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112826
SMART Domains Protein: ENSMUSP00000108445
Gene: ENSMUSG00000026866

DomainStartEndE-ValueType
Pfam:Aminotran_5 70 405 8.4e-17 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (65/65)
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
A930018M24Rik C T 14: 50,896,722 probably benign Het
Acad10 A C 5: 121,621,290 D1043E probably damaging Het
Adamtsl4 C T 3: 95,684,139 G173R probably benign Het
Astn1 G T 1: 158,502,151 S192I probably damaging Het
Atg2a T A 19: 6,252,789 V1010E probably damaging Het
C130079G13Rik A C 3: 59,936,435 K183N probably benign Het
Col11a2 A G 17: 34,049,674 E311G probably damaging Het
Col4a3 A C 1: 82,717,993 E1638A probably benign Het
Cstf2t A G 19: 31,083,831 R256G probably benign Het
Cyp4a12a T C 4: 115,326,672 L225P probably damaging Het
Diexf A G 1: 193,128,470 L75P probably damaging Het
Dnah5 G A 15: 28,239,934 R479H probably damaging Het
Dsg3 A G 18: 20,540,022 I917V probably benign Het
Fam76a G T 4: 132,910,787 probably benign Het
Fras1 T A 5: 96,614,917 probably null Het
Gli1 A G 10: 127,336,006 V293A probably damaging Het
Gm10782 T A 13: 56,363,143 noncoding transcript Het
Greb1l A G 18: 10,509,158 E490G probably damaging Het
Hydin G A 8: 110,589,561 G4362R probably damaging Het
Ica1 A T 6: 8,749,778 probably benign Het
Ikzf4 T A 10: 128,634,197 I485F probably damaging Het
Irf5 A G 6: 29,533,967 T34A probably damaging Het
Krt81 A T 15: 101,463,521 C59* probably null Het
Ly6g6c T C 17: 35,068,915 V61A probably damaging Het
Manea A C 4: 26,328,104 I312M probably damaging Het
Micall1 G T 15: 79,131,901 probably benign Het
Mthfs A T 9: 89,226,163 probably benign Het
Myh4 A G 11: 67,259,347 T1877A probably benign Het
Myo3a T C 2: 22,245,598 I92T probably benign Het
Nepn A G 10: 52,401,085 S306G probably damaging Het
Nol8 T C 13: 49,672,689 V995A probably benign Het
Olfr1453 A G 19: 13,027,801 F176S probably damaging Het
Olfr1458 T A 19: 13,103,140 T49S probably benign Het
Olfr160 A T 9: 37,711,454 V275E probably damaging Het
Olfr967 A G 9: 39,750,661 I92V possibly damaging Het
Pde1a T A 2: 79,868,313 probably null Het
Phf14 A G 6: 11,987,697 probably benign Het
Plekhh2 C T 17: 84,591,672 Q1026* probably null Het
Polr2b T A 5: 77,320,950 probably benign Het
Ppp1r36 G T 12: 76,436,282 probably null Het
Prdm14 A T 1: 13,118,945 C392S probably damaging Het
Rabgap1l A G 1: 160,682,116 S436P possibly damaging Het
Rfc2 A T 5: 134,595,281 probably null Het
Rfx4 A T 10: 84,894,304 M437L probably benign Het
Rgs17 T A 10: 5,842,583 R74S probably benign Het
Rnf139 C A 15: 58,899,415 L430I probably damaging Het
Sgsm1 C A 5: 113,274,360 probably benign Het
Skint6 T A 4: 112,811,501 T1126S possibly damaging Het
Slc15a2 T C 16: 36,753,036 E602G probably damaging Het
Stpg2 T C 3: 139,243,193 probably benign Het
Sycp2l T C 13: 41,129,525 probably benign Het
Tlr11 A T 14: 50,360,818 N87I probably benign Het
Tril A G 6: 53,818,363 F625L probably damaging Het
Ube3c T A 5: 29,607,064 V434E probably damaging Het
Usp34 G A 11: 23,363,111 G533R probably damaging Het
Zfp93 G T 7: 24,275,475 R295L probably benign Het
Other mutations in Kynu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Kynu APN 2 43671382 missense possibly damaging 0.91
IGL01974:Kynu APN 2 43681340 unclassified probably benign
R0304:Kynu UTSW 2 43679881 missense probably damaging 0.99
R1681:Kynu UTSW 2 43679825 missense probably damaging 1.00
R1799:Kynu UTSW 2 43604157 missense possibly damaging 0.65
R2016:Kynu UTSW 2 43604277 nonsense probably null
R2345:Kynu UTSW 2 43581385 missense probably damaging 1.00
R3085:Kynu UTSW 2 43602300 missense probably benign 0.00
R3825:Kynu UTSW 2 43681439 missense probably benign
R4091:Kynu UTSW 2 43679872 missense possibly damaging 0.94
R4241:Kynu UTSW 2 43681410 missense probably benign 0.00
R4594:Kynu UTSW 2 43679890 missense probably benign 0.00
R4673:Kynu UTSW 2 43679803 missense probably damaging 1.00
R4871:Kynu UTSW 2 43679818 missense possibly damaging 0.58
R5371:Kynu UTSW 2 43589394 missense probably benign 0.00
R6272:Kynu UTSW 2 43634989 missense probably benign 0.01
R6342:Kynu UTSW 2 43681451 missense probably benign 0.09
R6866:Kynu UTSW 2 43563110 nonsense probably null
R7203:Kynu UTSW 2 43681353 missense probably damaging 1.00
Predicted Primers
Posted On2013-05-09