Incidental Mutation 'R6109:Kmo'
| ID |
484699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmo
|
| Ensembl Gene |
ENSMUSG00000039783 |
| Gene Name |
kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) |
| Synonyms |
|
| MMRRC Submission |
044259-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6109 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
175459759-175488419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 175465474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 76
(A76E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040250]
[ENSMUST00000097458]
[ENSMUST00000140474]
|
| AlphaFold |
Q91WN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040250
AA Change: A49E
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000038914
Gene: ENSMUSG00000039783
AA Change: A49E
| 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: A49E
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095067
Gene: ENSMUSG00000039783
AA Change: A49E
| 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 |
possibly damaging
Transcript: ENSMUST00000140474
AA Change: A76E
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122943
Gene: ENSMUSG00000039783
AA Change: A76E
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,303 (GRCm39) |
Y950C |
probably benign |
Het |
| Acadm |
A |
G |
3: 153,647,580 (GRCm39) |
C20R |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,621,560 (GRCm39) |
T984K |
probably damaging |
Het |
| Agxt2 |
C |
T |
15: 10,377,508 (GRCm39) |
T136I |
probably damaging |
Het |
| Ankrd36 |
C |
A |
11: 5,578,941 (GRCm39) |
N68K |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,143,340 (GRCm39) |
D10V |
possibly damaging |
Het |
| Apcdd1 |
A |
T |
18: 63,070,437 (GRCm39) |
I235F |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,171,407 (GRCm39) |
W1396R |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,525,343 (GRCm39) |
T513A |
probably benign |
Het |
| Aym1 |
C |
T |
5: 113,505,407 (GRCm39) |
L9F |
unknown |
Het |
| Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
| Camk2a |
A |
T |
18: 61,076,306 (GRCm39) |
K95* |
probably null |
Het |
| Ccdc40 |
T |
C |
11: 119,122,804 (GRCm39) |
V202A |
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,045 (GRCm39) |
D152E |
probably benign |
Het |
| Cd2bp2 |
C |
T |
7: 126,793,987 (GRCm39) |
D101N |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 104,921,739 (GRCm39) |
D679N |
probably damaging |
Het |
| Clpx |
C |
T |
9: 65,207,234 (GRCm39) |
T44I |
probably benign |
Het |
| Cnnm4 |
T |
G |
1: 36,537,560 (GRCm39) |
V541G |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,249,874 (GRCm39) |
I1035V |
possibly damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,147 (GRCm39) |
S62G |
probably benign |
Het |
| Dlk2 |
T |
A |
17: 46,612,623 (GRCm39) |
Y109N |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,807,955 (GRCm39) |
V363M |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,439,907 (GRCm39) |
|
probably null |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Foxl3 |
C |
A |
5: 138,805,850 (GRCm39) |
Q6K |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,022,663 (GRCm39) |
F166L |
probably benign |
Het |
| Gm11271 |
G |
T |
13: 21,565,309 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
A |
3: 108,007,451 (GRCm39) |
Y290N |
probably damaging |
Het |
| H2-D1 |
A |
T |
17: 35,482,913 (GRCm39) |
I148F |
probably damaging |
Het |
| Hdac2 |
A |
G |
10: 36,862,385 (GRCm39) |
D83G |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 921,501 (GRCm39) |
W500R |
probably damaging |
Het |
| Kel |
A |
T |
6: 41,665,796 (GRCm39) |
F489I |
probably benign |
Het |
| Krt32 |
T |
C |
11: 99,978,791 (GRCm39) |
T88A |
probably benign |
Het |
| Lce3b |
A |
G |
3: 92,840,994 (GRCm39) |
T30A |
unknown |
Het |
| Lcn11 |
A |
G |
2: 25,669,308 (GRCm39) |
H155R |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,889,481 (GRCm39) |
I129N |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,031,993 (GRCm39) |
K3E |
probably benign |
Het |
| Mitf |
C |
T |
6: 97,973,429 (GRCm39) |
T229M |
probably damaging |
Het |
| Ms4a20 |
T |
C |
19: 11,079,276 (GRCm39) |
M131V |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,566,655 (GRCm39) |
I1955V |
unknown |
Het |
| Naip1 |
A |
G |
13: 100,563,690 (GRCm39) |
C492R |
probably damaging |
Het |
| Ncor2 |
C |
T |
5: 125,132,910 (GRCm39) |
A26T |
probably damaging |
Het |
| Ngfr |
T |
G |
11: 95,468,883 (GRCm39) |
D165A |
probably damaging |
Het |
| Nobox |
A |
T |
6: 43,282,103 (GRCm39) |
S323R |
probably damaging |
Het |
| Or51ac3 |
T |
C |
7: 103,214,346 (GRCm39) |
I47V |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,492 (GRCm39) |
S157P |
probably benign |
Het |
| Pcdhb1 |
G |
T |
18: 37,398,306 (GRCm39) |
V86F |
possibly damaging |
Het |
| Pdk1 |
A |
G |
2: 71,713,850 (GRCm39) |
E165G |
probably benign |
Het |
| Peak1 |
C |
T |
9: 56,166,567 (GRCm39) |
V454I |
probably benign |
Het |
| Rad9b |
C |
T |
5: 122,482,360 (GRCm39) |
G125D |
probably damaging |
Het |
| S100a16 |
T |
C |
3: 90,449,381 (GRCm39) |
F19L |
probably damaging |
Het |
| Serpine2 |
T |
C |
1: 79,788,388 (GRCm39) |
K190E |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,274,799 (GRCm39) |
M12K |
probably damaging |
Het |
| Tex101 |
T |
C |
7: 24,367,738 (GRCm39) |
T205A |
possibly damaging |
Het |
| Tssk5 |
T |
C |
15: 76,257,916 (GRCm39) |
E147G |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,144,675 (GRCm39) |
T1495A |
probably damaging |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,108,638 (GRCm39) |
|
probably null |
Het |
| Zfp811 |
T |
A |
17: 33,016,348 (GRCm39) |
|
probably null |
Het |
| Zscan10 |
T |
A |
17: 23,826,103 (GRCm39) |
F88L |
probably 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 |
|
|
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 |
|
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'- TTGATGTGTACGAAGCTAGGGA -3'
(R):5'- TCAACATGGACACACAGGGC -3'
Sequencing Primer
(F):5'- GCTAGGGAAGGTAAGTTGGTC -3'
(R):5'- TGGACACACAGGGCTACATC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation