Incidental Mutation 'IGL02551:Kmo'
ID298110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kmo
Ensembl Gene ENSMUSG00000039783
Gene Namekynurenine 3-monooxygenase (kynurenine 3-hydroxylase)
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02551
Quality Score
Status
Chromosome1
Chromosomal Location175620381-175662116 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 175637919 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 80 (S80C)
Ref Sequence ENSEMBL: ENSMUSP00000122943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040250] [ENSMUST00000097458] [ENSMUST00000140474]
Predicted Effect probably damaging
Transcript: ENSMUST00000040250
AA Change: S53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038914
Gene: ENSMUSG00000039783
AA Change: S53C

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 probably damaging
Transcript: ENSMUST00000097458
AA Change: S53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095067
Gene: ENSMUSG00000039783
AA Change: S53C

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 probably damaging
Transcript: ENSMUST00000140474
AA Change: S80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122943
Gene: ENSMUSG00000039783
AA Change: S80C

DomainStartEndE-ValueType
Pfam:FAD_binding_3 44 240 2.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150646
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 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik G A 1: 158,969,048 noncoding transcript Het
Abca8a T C 11: 110,084,242 I109V probably benign Het
Acsm2 C T 7: 119,573,284 P117S probably damaging Het
Adamts18 C A 8: 113,699,072 C1186F probably damaging Het
Adamts5 A T 16: 85,870,038 V522E possibly damaging Het
Adcy10 A G 1: 165,543,233 T694A probably damaging Het
Adgra2 G A 8: 27,119,222 V609I probably benign Het
Agbl3 A G 6: 34,823,071 K638R possibly damaging Het
Alpk2 T A 18: 65,372,751 N66I probably damaging Het
Ap3b1 T A 13: 94,418,091 I245N probably damaging Het
Aqp9 A G 9: 71,132,640 V120A probably damaging Het
Arhgef17 T C 7: 100,930,346 E465G probably damaging Het
Btrc G T 19: 45,423,134 C31F possibly damaging Het
Calhm2 G A 19: 47,133,100 S210L probably damaging Het
Cnksr3 C A 10: 7,152,912 K153N probably damaging Het
Cnr1 T C 4: 33,943,686 S25P probably benign Het
Dnajc6 T A 4: 101,639,353 W838R probably damaging Het
Fam78a T A 2: 32,069,556 T181S probably damaging Het
Fat1 A G 8: 45,051,398 T4600A probably damaging Het
Fbxo31 A T 8: 121,566,344 Y101N probably damaging Het
Glmp A G 3: 88,325,082 M1V probably null Het
Gsdmc T A 15: 63,801,933 T168S probably benign Het
Has1 C T 17: 17,848,298 V265I probably damaging Het
Hmcn2 A G 2: 31,454,811 D4670G possibly damaging Het
Kcnj4 C T 15: 79,484,902 M292I probably benign Het
Lrrc8d C T 5: 105,813,548 T608I possibly damaging Het
Mical2 A T 7: 112,323,990 N635I probably benign Het
Nags T C 11: 102,147,941 S403P probably damaging Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Ncan A T 8: 70,102,462 N1018K probably damaging Het
Notch3 T A 17: 32,154,731 probably benign Het
Nup93 C T 8: 94,227,833 Q53* probably null Het
Pdk2 T A 11: 95,028,586 M288L probably benign Het
Pkd1 A G 17: 24,573,815 Y1492C probably damaging Het
Pla2g12b T A 10: 59,403,870 W34R probably damaging Het
Pla2g6 T A 15: 79,299,094 D511V possibly damaging Het
Plin2 C A 4: 86,658,692 M265I probably benign Het
Ppp6c A T 2: 39,206,657 F78I probably damaging Het
Prop1 A T 11: 50,950,946 M211K possibly damaging Het
Prr14l T A 5: 32,831,484 E222D probably damaging Het
Rtkn A T 6: 83,151,924 I454F probably damaging Het
Serinc2 T C 4: 130,260,774 I226V probably benign Het
Sh3bp1 T A 15: 78,904,338 H229Q probably benign Het
Slc13a3 G T 2: 165,424,573 F348L probably damaging Het
Slc6a15 T A 10: 103,404,275 probably benign Het
Spg7 G A 8: 123,076,978 G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 D40G probably benign Het
Tmcc2 A G 1: 132,357,579 L683P probably damaging Het
Triobp T C 15: 78,973,489 S1097P probably benign Het
Tspan9 T C 6: 127,965,763 D167G probably null Het
Ttll6 T C 11: 96,154,700 I581T probably benign Het
Usp29 A G 7: 6,963,353 probably null Het
Vgll4 A G 6: 114,862,293 W246R probably damaging Het
Vmn2r26 T C 6: 124,026,141 V170A probably benign Het
Vmn2r62 T C 7: 42,788,506 T185A probably benign Het
Vwce A G 19: 10,645,036 H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 E2194G possibly damaging Het
Other mutations in Kmo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Kmo APN 1 175655095 missense possibly damaging 0.54
IGL01734:Kmo APN 1 175655102 missense probably benign 0.00
IGL02415:Kmo APN 1 175649323 splice site probably benign
IGL02866:Kmo APN 1 175653588 missense probably damaging 1.00
IGL03140:Kmo APN 1 175649220 missense probably damaging 1.00
R0613:Kmo UTSW 1 175637892 missense probably damaging 1.00
R0617:Kmo UTSW 1 175647190 missense possibly damaging 0.85
R0883:Kmo UTSW 1 175647140 missense possibly damaging 0.70
R1034:Kmo UTSW 1 175651618 missense possibly damaging 0.95
R1037:Kmo UTSW 1 175651618 missense possibly damaging 0.95
R1164:Kmo UTSW 1 175658559 missense probably benign 0.00
R1519:Kmo UTSW 1 175651618 missense possibly damaging 0.95
R1519:Kmo UTSW 1 175656802 missense probably damaging 1.00
R1712:Kmo UTSW 1 175656723 missense probably benign
R1796:Kmo UTSW 1 175637895 missense probably benign 0.00
R1938:Kmo UTSW 1 175651588 missense possibly damaging 0.88
R4531:Kmo UTSW 1 175659707 splice site probably null
R4586:Kmo UTSW 1 175650572 missense probably damaging 1.00
R4586:Kmo UTSW 1 175650573 missense possibly damaging 0.90
R4603:Kmo UTSW 1 175651642 missense probably benign 0.13
R4647:Kmo UTSW 1 175659774 nonsense probably null
R4728:Kmo UTSW 1 175656763 missense possibly damaging 0.51
R5569:Kmo UTSW 1 175655122 missense probably benign 0.04
R5571:Kmo UTSW 1 175647194 missense possibly damaging 0.46
R6109:Kmo UTSW 1 175637908 missense possibly damaging 0.67
R6244:Kmo UTSW 1 175659695 missense possibly damaging 0.91
R6943:Kmo UTSW 1 175658375 missense probably benign 0.00
R7148:Kmo UTSW 1 175651602 missense probably damaging 1.00
R7319:Kmo UTSW 1 175653655 missense probably damaging 0.97
R7450:Kmo UTSW 1 175639100 missense probably benign 0.01
R7545:Kmo UTSW 1 175653628 missense probably damaging 1.00
R7829:Kmo UTSW 1 175650659 splice site probably null
R7916:Kmo UTSW 1 175659670 missense probably damaging 1.00
R8169:Kmo UTSW 1 175649163 missense probably benign 0.10
R8515:Kmo UTSW 1 175647152 missense probably damaging 1.00
X0027:Kmo UTSW 1 175647193 missense probably benign 0.00
Z1177:Kmo UTSW 1 175649186 missense probably damaging 1.00
Posted On2015-04-16