Incidental Mutation 'R1034:Kmo'
ID 95372
Institutional Source Beutler Lab
Gene Symbol Kmo
Ensembl Gene ENSMUSG00000039783
Gene Name kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)
Synonyms
MMRRC Submission 039133-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1034 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 175459759-175488419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 175479184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 240 (P240L)
Ref Sequence ENSEMBL: ENSMUSP00000095067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040250] [ENSMUST00000097458] [ENSMUST00000140474]
AlphaFold Q91WN4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040250
AA Change: P240L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038914
Gene: ENSMUSG00000039783
AA Change: P240L

DomainStartEndE-ValueType
Pfam:FAD_binding_3 9 328 5.6e-22 PFAM
Pfam:NAD_binding_8 13 63 2.2e-7 PFAM
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097458
AA Change: P240L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095067
Gene: ENSMUSG00000039783
AA Change: P240L

DomainStartEndE-ValueType
Pfam:FAD_binding_3 9 328 5.8e-22 PFAM
Pfam:NAD_binding_8 13 63 2.1e-7 PFAM
transmembrane domain 391 413 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137174
Predicted Effect silent
Transcript: ENSMUST00000140474
SMART Domains Protein: ENSMUSP00000122943
Gene: ENSMUSG00000039783

DomainStartEndE-ValueType
Pfam:FAD_binding_3 44 240 2.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142223
Meta Mutation Damage Score 0.9221 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.3%
  • 10x: 92.9%
  • 20x: 82.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele lack kynurenine 3-monooxygenase activity and altered levels of several tryptophan metabolites. Mice homozygous for another null allele exhibit increased LPS-induced depressive behaviors and altered kynurenine metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Abca14 T C 7: 119,815,370 (GRCm39) F206S probably damaging Het
Arid2 T C 15: 96,267,386 (GRCm39) V622A probably benign Het
Asic1 T A 15: 99,595,939 (GRCm39) L437Q probably damaging Het
Atp1b1 C T 1: 164,281,057 (GRCm39) probably null Het
B3gnt5 A G 16: 19,588,234 (GRCm39) Y151C probably damaging Het
Cbx4 A G 11: 118,972,533 (GRCm39) S281P probably damaging Het
Dnah5 G A 15: 28,302,617 (GRCm39) V1625I probably damaging Het
Eftud2 A C 11: 102,740,010 (GRCm39) D461E probably benign Het
Epgn A G 5: 91,180,080 (GRCm39) Y74C probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fgf14 C T 14: 124,369,946 (GRCm39) V113I probably damaging Het
Ggcx G A 6: 72,391,814 (GRCm39) R68H probably damaging Het
Gm1110 A G 9: 26,832,646 (GRCm39) S16P probably damaging Het
Gm6729 T C 10: 86,375,890 (GRCm39) noncoding transcript Het
Gpr108 A G 17: 57,542,995 (GRCm39) F522S probably damaging Het
Gpr156 T C 16: 37,825,088 (GRCm39) V435A probably benign Het
Khdrbs2 T C 1: 32,506,872 (GRCm39) L172P probably damaging Het
Ltn1 A T 16: 87,194,025 (GRCm39) probably null Het
Nbeal1 T A 1: 60,329,165 (GRCm39) Y2194* probably null Het
Or6c8 T A 10: 128,915,830 (GRCm39) M1L probably benign Het
Or7d11 A T 9: 19,966,661 (GRCm39) S33T probably benign Het
Rab6b T C 9: 103,044,323 (GRCm39) S172P probably benign Het
Ror1 T A 4: 100,190,817 (GRCm39) L58* probably null Het
Sec23b A G 2: 144,432,258 (GRCm39) D756G possibly damaging Het
Slc24a2 T A 4: 86,950,512 (GRCm39) K428N probably damaging Het
Spen C A 4: 141,203,063 (GRCm39) V1855L probably benign Het
Srgap1 G A 10: 121,621,350 (GRCm39) P1071S possibly damaging Het
Tns1 A G 1: 73,981,128 (GRCm39) C1079R probably damaging Het
Traf3ip1 G T 1: 91,446,041 (GRCm39) probably null Het
Trmt2a T C 16: 18,067,573 (GRCm39) F82S probably damaging Het
Xrn1 A G 9: 95,921,790 (GRCm39) D1401G probably damaging Het
Zfp352 T A 4: 90,112,393 (GRCm39) S178T possibly damaging Het
Zfp758 G T 17: 22,594,740 (GRCm39) E409* probably null Het
Other mutations in Kmo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Kmo APN 1 175,482,661 (GRCm39) missense possibly damaging 0.54
IGL01734:Kmo APN 1 175,482,668 (GRCm39) missense probably benign 0.00
IGL02415:Kmo APN 1 175,476,889 (GRCm39) splice site probably benign
IGL02551:Kmo APN 1 175,465,485 (GRCm39) missense probably damaging 1.00
IGL02866:Kmo APN 1 175,481,154 (GRCm39) missense probably damaging 1.00
IGL03140:Kmo APN 1 175,476,786 (GRCm39) missense probably damaging 1.00
R0613:Kmo UTSW 1 175,465,458 (GRCm39) missense probably damaging 1.00
R0617:Kmo UTSW 1 175,474,756 (GRCm39) missense possibly damaging 0.85
R0883:Kmo UTSW 1 175,474,706 (GRCm39) missense possibly damaging 0.70
R1037:Kmo UTSW 1 175,479,184 (GRCm39) missense possibly damaging 0.95
R1164:Kmo UTSW 1 175,486,125 (GRCm39) missense probably benign 0.00
R1519:Kmo UTSW 1 175,484,368 (GRCm39) missense probably damaging 1.00
R1519:Kmo UTSW 1 175,479,184 (GRCm39) missense possibly damaging 0.95
R1712:Kmo UTSW 1 175,484,289 (GRCm39) missense probably benign
R1796:Kmo UTSW 1 175,465,461 (GRCm39) missense probably benign 0.00
R1938:Kmo UTSW 1 175,479,154 (GRCm39) missense possibly damaging 0.88
R4531:Kmo UTSW 1 175,487,273 (GRCm39) splice site probably null
R4586:Kmo UTSW 1 175,478,139 (GRCm39) missense possibly damaging 0.90
R4586:Kmo UTSW 1 175,478,138 (GRCm39) missense probably damaging 1.00
R4603:Kmo UTSW 1 175,479,208 (GRCm39) missense probably benign 0.13
R4647:Kmo UTSW 1 175,487,340 (GRCm39) nonsense probably null
R4728:Kmo UTSW 1 175,484,329 (GRCm39) missense possibly damaging 0.51
R5569:Kmo UTSW 1 175,482,688 (GRCm39) missense probably benign 0.04
R5571:Kmo UTSW 1 175,474,760 (GRCm39) missense possibly damaging 0.46
R6109:Kmo UTSW 1 175,465,474 (GRCm39) missense possibly damaging 0.67
R6244:Kmo UTSW 1 175,487,261 (GRCm39) missense possibly damaging 0.91
R6943:Kmo UTSW 1 175,485,941 (GRCm39) missense probably benign 0.00
R7148:Kmo UTSW 1 175,479,168 (GRCm39) missense probably damaging 1.00
R7319:Kmo UTSW 1 175,481,221 (GRCm39) missense probably damaging 0.97
R7450:Kmo UTSW 1 175,466,666 (GRCm39) missense probably benign 0.01
R7545:Kmo UTSW 1 175,481,194 (GRCm39) missense probably damaging 1.00
R7829:Kmo UTSW 1 175,478,225 (GRCm39) splice site probably null
R7916:Kmo UTSW 1 175,487,236 (GRCm39) missense probably damaging 1.00
R8169:Kmo UTSW 1 175,476,729 (GRCm39) missense probably benign 0.10
R8515:Kmo UTSW 1 175,474,718 (GRCm39) missense probably damaging 1.00
R9056:Kmo UTSW 1 175,465,108 (GRCm39) missense probably damaging 0.99
R9659:Kmo UTSW 1 175,486,085 (GRCm39) missense probably damaging 1.00
R9686:Kmo UTSW 1 175,459,786 (GRCm39) start codon destroyed probably null 0.07
X0027:Kmo UTSW 1 175,474,759 (GRCm39) missense probably benign 0.00
Z1177:Kmo UTSW 1 175,476,752 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCTTTCCTCCAGGGAAAAGTGAC -3'
(R):5'- AGACTTTGCTCTAACGCTGGCTTC -3'

Sequencing Primer
(F):5'- GACAAAGCTGAGTTGAAAATTCCC -3'
(R):5'- TCCCATCAGAGGGATAGCATCT -3'
Posted On 2014-01-05