Incidental Mutation 'IGL02415:Kmo'
| ID |
292431 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kmo
|
| Ensembl Gene |
ENSMUSG00000039783 |
| Gene Name |
kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
175459759-175488419 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 175476889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040250]
[ENSMUST00000097458]
[ENSMUST00000140474]
|
| AlphaFold |
Q91WN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040250
|
| SMART Domains |
Protein: ENSMUSP00000038914
Gene: ENSMUSG00000039783
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000097458
|
| SMART Domains |
Protein: ENSMUSP00000095067
Gene: ENSMUSG00000039783
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000140474
|
| SMART Domains |
Protein: ENSMUSP00000122943
Gene: ENSMUSG00000039783
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_3
|
44 |
240 |
2.9e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142223
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,777,056 (GRCm39) |
D124G |
probably benign |
Het |
| Adamts13 |
T |
A |
2: 26,879,295 (GRCm39) |
I616N |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,854,506 (GRCm39) |
|
probably null |
Het |
| Amy1 |
T |
C |
3: 113,357,234 (GRCm39) |
I202V |
probably benign |
Het |
| Bdp1 |
G |
A |
13: 100,225,916 (GRCm39) |
T322I |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,264,316 (GRCm39) |
L110S |
probably damaging |
Het |
| Cep72 |
T |
C |
13: 74,198,273 (GRCm39) |
D369G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,739 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
G |
A |
13: 92,011,459 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
T |
C |
7: 25,507,562 (GRCm39) |
T296A |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,668,957 (GRCm39) |
V283E |
probably benign |
Het |
| Eeig2 |
A |
G |
3: 108,887,608 (GRCm39) |
Y219H |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,019,498 (GRCm39) |
T658A |
probably damaging |
Het |
| Gml |
A |
T |
15: 74,688,289 (GRCm39) |
Y59* |
probably null |
Het |
| Krt25 |
A |
T |
11: 99,213,398 (GRCm39) |
I107N |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,744,111 (GRCm39) |
M773V |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Med12 |
T |
C |
X: 100,325,396 (GRCm39) |
V761A |
probably damaging |
Het |
| Mrpl19 |
T |
C |
6: 81,940,942 (GRCm39) |
T150A |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,305,609 (GRCm39) |
E646* |
probably null |
Het |
| Muc20 |
T |
A |
16: 32,615,051 (GRCm39) |
T109S |
unknown |
Het |
| Nr2f6 |
T |
C |
8: 71,827,156 (GRCm39) |
T382A |
probably benign |
Het |
| Nrap |
A |
G |
19: 56,370,741 (GRCm39) |
I172T |
probably damaging |
Het |
| Or5an1 |
A |
G |
19: 12,260,862 (GRCm39) |
Y150C |
probably benign |
Het |
| Or8b47 |
T |
C |
9: 38,435,408 (GRCm39) |
C127R |
probably benign |
Het |
| P3h1 |
A |
T |
4: 119,105,152 (GRCm39) |
Q710L |
probably benign |
Het |
| Parvb |
A |
G |
15: 84,177,016 (GRCm39) |
H185R |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,645 (GRCm39) |
I1970T |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,592,983 (GRCm39) |
Y1710C |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,326,272 (GRCm39) |
R69S |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,506,930 (GRCm39) |
N284S |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,176,949 (GRCm39) |
S1906C |
possibly damaging |
Het |
| Rln1 |
T |
C |
19: 29,311,798 (GRCm39) |
R67G |
probably damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,804,239 (GRCm39) |
V224I |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,260,172 (GRCm39) |
|
probably null |
Het |
| Stx6 |
A |
G |
1: 155,069,059 (GRCm39) |
E195G |
possibly damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,391,509 (GRCm39) |
D90E |
possibly damaging |
Het |
| Taok1 |
A |
G |
11: 77,431,066 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,259,826 (GRCm39) |
M566L |
probably benign |
Het |
| Tcaf1 |
C |
T |
6: 42,663,584 (GRCm39) |
A99T |
probably benign |
Het |
| Tcf20 |
T |
A |
15: 82,737,660 (GRCm39) |
M1264L |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,523,281 (GRCm39) |
V1571M |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,288,726 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,801,084 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
T |
C |
5: 110,935,487 (GRCm39) |
D926G |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,804,033 (GRCm39) |
I181V |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 84,656,020 (GRCm39) |
T332I |
probably damaging |
Het |
| Wdr1 |
C |
A |
5: 38,688,453 (GRCm39) |
D161Y |
probably damaging |
Het |
| Wnt7a |
T |
C |
6: 91,371,539 (GRCm39) |
Y141C |
probably damaging |
Het |
| Xrra1 |
G |
A |
7: 99,565,150 (GRCm39) |
E573K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,223,771 (GRCm39) |
Q91K |
possibly damaging |
Het |
|
| Other mutations in Kmo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R1034:Kmo
|
UTSW |
1 |
175,479,184 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation