Incidental Mutation 'IGL01734:Kmo'
| ID |
105608 |
| 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 # |
IGL01734
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
175459759-175488419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 175482668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 331
(M331L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040250]
[ENSMUST00000097458]
[ENSMUST00000140474]
|
| AlphaFold |
Q91WN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040250
AA Change: M331L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000038914
Gene: ENSMUSG00000039783
AA Change: M331L
| 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
AA Change: M331L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000095067
Gene: ENSMUSG00000039783
AA Change: M331L
| 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 |
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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932442E05Rik |
T |
A |
10: 118,697,371 (GRCm39) |
W210R |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,659,217 (GRCm39) |
M77T |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,393,469 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,747,858 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,139,292 (GRCm39) |
D3307G |
probably benign |
Het |
| Chsy1 |
T |
C |
7: 65,821,058 (GRCm39) |
I431T |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,204,980 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,158,134 (GRCm39) |
D308G |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 48,048,700 (GRCm39) |
Y568H |
probably damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,599,947 (GRCm39) |
I264T |
probably damaging |
Het |
| Dusp22 |
G |
T |
13: 30,880,235 (GRCm39) |
C52F |
probably damaging |
Het |
| Fbxw22 |
A |
C |
9: 109,212,993 (GRCm39) |
M318R |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,102,295 (GRCm39) |
T310M |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,658,644 (GRCm39) |
V1138A |
probably damaging |
Het |
| Glt6d1 |
T |
A |
2: 25,684,505 (GRCm39) |
Y167F |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,217,421 (GRCm39) |
Y1436* |
probably null |
Het |
| Il12a |
G |
A |
3: 68,598,888 (GRCm39) |
C2Y |
possibly damaging |
Het |
| Inpp5a |
T |
C |
7: 139,034,006 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Jmy |
A |
C |
13: 93,596,159 (GRCm39) |
L490R |
probably damaging |
Het |
| Kif26a |
T |
A |
12: 112,143,262 (GRCm39) |
L1172H |
probably benign |
Het |
| Lonp1 |
G |
A |
17: 56,923,026 (GRCm39) |
T627M |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 115,950,331 (GRCm39) |
|
probably null |
Het |
| Mast4 |
A |
T |
13: 102,874,123 (GRCm39) |
S1556R |
probably damaging |
Het |
| Mmel1 |
A |
G |
4: 154,976,408 (GRCm39) |
N490S |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,614,158 (GRCm39) |
D164G |
probably damaging |
Het |
| Nap1l1 |
A |
G |
10: 111,328,760 (GRCm39) |
T230A |
probably benign |
Het |
| Nrap |
C |
A |
19: 56,338,741 (GRCm39) |
A913S |
probably damaging |
Het |
| Nudt16 |
G |
T |
9: 105,008,707 (GRCm39) |
Q65K |
probably benign |
Het |
| Or1e23 |
C |
A |
11: 73,407,462 (GRCm39) |
A188S |
probably benign |
Het |
| Or5ac17 |
T |
G |
16: 59,036,792 (GRCm39) |
L61F |
probably benign |
Het |
| Or5ac19 |
T |
A |
16: 59,089,213 (GRCm39) |
K272N |
probably benign |
Het |
| Or5al5 |
T |
A |
2: 85,962,012 (GRCm39) |
|
probably benign |
Het |
| Or6c76b |
T |
A |
10: 129,692,671 (GRCm39) |
C95S |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,678,970 (GRCm39) |
F333L |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,115,124 (GRCm39) |
Q1422K |
probably benign |
Het |
| Polr3c |
T |
C |
3: 96,620,836 (GRCm39) |
E494G |
probably damaging |
Het |
| Prss42 |
C |
A |
9: 110,627,411 (GRCm39) |
P49Q |
probably benign |
Het |
| Ptpra |
C |
T |
2: 130,385,997 (GRCm39) |
T568I |
probably damaging |
Het |
| Ring1 |
T |
C |
17: 34,242,294 (GRCm39) |
D71G |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,542,782 (GRCm39) |
S193T |
probably damaging |
Het |
| Slf2 |
T |
C |
19: 44,961,706 (GRCm39) |
|
probably null |
Het |
| Spinkl |
T |
A |
18: 44,307,639 (GRCm39) |
K7N |
possibly damaging |
Het |
| Tbk1 |
G |
A |
10: 121,407,888 (GRCm39) |
R82* |
probably null |
Het |
| Tcf12 |
T |
C |
9: 71,829,930 (GRCm39) |
|
probably null |
Het |
| Tcl1b5 |
G |
A |
12: 105,145,214 (GRCm39) |
M59I |
probably benign |
Het |
| Thumpd3 |
C |
A |
6: 113,043,806 (GRCm39) |
T407K |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,505,031 (GRCm39) |
V233A |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,469,192 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,937,543 (GRCm39) |
|
probably benign |
Het |
| Ugdh |
G |
T |
5: 65,580,031 (GRCm39) |
T253K |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,416 (GRCm39) |
|
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,831,563 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation