Incidental Mutation 'IGL02551:Kmo'
| ID |
298110 |
| 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 # |
IGL02551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
175459759-175488419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 175465485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q91WN4 |
| 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
| 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 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
| 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 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
G |
A |
1: 158,796,618 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 109,975,068 (GRCm39) |
I109V |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
| Adamts18 |
C |
A |
8: 114,425,704 (GRCm39) |
C1186F |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,666,926 (GRCm39) |
V522E |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,370,802 (GRCm39) |
T694A |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,609,250 (GRCm39) |
V609I |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,800,006 (GRCm39) |
K638R |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,505,822 (GRCm39) |
N66I |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,554,599 (GRCm39) |
I245N |
probably damaging |
Het |
| Aqp9 |
A |
G |
9: 71,039,922 (GRCm39) |
V120A |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,553 (GRCm39) |
E465G |
probably damaging |
Het |
| Btrc |
G |
T |
19: 45,411,573 (GRCm39) |
C31F |
possibly damaging |
Het |
| Calhm2 |
G |
A |
19: 47,121,539 (GRCm39) |
S210L |
probably damaging |
Het |
| Cnksr3 |
C |
A |
10: 7,102,912 (GRCm39) |
K153N |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,943,686 (GRCm39) |
S25P |
probably benign |
Het |
| Dnajc6 |
T |
A |
4: 101,496,550 (GRCm39) |
W838R |
probably damaging |
Het |
| Fam78a |
T |
A |
2: 31,959,568 (GRCm39) |
T181S |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,504,435 (GRCm39) |
T4600A |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,293,083 (GRCm39) |
Y101N |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,232,389 (GRCm39) |
M1V |
probably null |
Het |
| Gsdmc |
T |
A |
15: 63,673,782 (GRCm39) |
T168S |
probably benign |
Het |
| Has1 |
C |
T |
17: 18,068,560 (GRCm39) |
V265I |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,344,823 (GRCm39) |
D4670G |
possibly damaging |
Het |
| Kcnj4 |
C |
T |
15: 79,369,103 (GRCm39) |
M292I |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,961,414 (GRCm39) |
T608I |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,923,197 (GRCm39) |
N635I |
probably benign |
Het |
| Nags |
T |
C |
11: 102,038,767 (GRCm39) |
S403P |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,555,112 (GRCm39) |
N1018K |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,373,705 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 94,954,461 (GRCm39) |
Q53* |
probably null |
Het |
| Pdk2 |
T |
A |
11: 94,919,412 (GRCm39) |
M288L |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,792,789 (GRCm39) |
Y1492C |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,239,692 (GRCm39) |
W34R |
probably damaging |
Het |
| Pla2g6 |
T |
A |
15: 79,183,294 (GRCm39) |
D511V |
possibly damaging |
Het |
| Plin2 |
C |
A |
4: 86,576,929 (GRCm39) |
M265I |
probably benign |
Het |
| Ppp6c |
A |
T |
2: 39,096,669 (GRCm39) |
F78I |
probably damaging |
Het |
| Prop1 |
A |
T |
11: 50,841,773 (GRCm39) |
M211K |
possibly damaging |
Het |
| Prr14l |
T |
A |
5: 32,988,828 (GRCm39) |
E222D |
probably damaging |
Het |
| Rtkn |
A |
T |
6: 83,128,905 (GRCm39) |
I454F |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,154,567 (GRCm39) |
I226V |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,788,538 (GRCm39) |
H229Q |
probably benign |
Het |
| Slc13a3 |
G |
T |
2: 165,266,493 (GRCm39) |
F348L |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,240,136 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
G |
A |
8: 123,803,717 (GRCm39) |
G249E |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,649,916 (GRCm39) |
D40G |
probably benign |
Het |
| Tmcc2 |
A |
G |
1: 132,285,317 (GRCm39) |
L683P |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,857,689 (GRCm39) |
S1097P |
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
| Ttll6 |
T |
C |
11: 96,045,526 (GRCm39) |
I581T |
probably benign |
Het |
| Usp29 |
A |
G |
7: 6,966,352 (GRCm39) |
|
probably null |
Het |
| Vgll4 |
A |
G |
6: 114,839,254 (GRCm39) |
W246R |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,003,100 (GRCm39) |
V170A |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,437,930 (GRCm39) |
T185A |
probably benign |
Het |
| Vwce |
A |
G |
19: 10,622,400 (GRCm39) |
H234R |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,462 (GRCm39) |
E2194G |
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 |
|
IGL02415:Kmo
|
APN |
1 |
175,476,889 (GRCm39) |
splice site |
probably benign |
|
|
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