Incidental Mutation 'R5571:Kmo'
ID |
435650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kmo
|
Ensembl Gene |
ENSMUSG00000039783 |
Gene Name |
kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) |
Synonyms |
|
MMRRC Submission |
044395-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5571 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
175459759-175488419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 175474760 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 175
(V175A)
|
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: V148A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000038914 Gene: ENSMUSG00000039783 AA Change: V148A
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: V148A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000095067 Gene: ENSMUSG00000039783 AA Change: V148A
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: V175A
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000122943 Gene: ENSMUSG00000039783 AA Change: V175A
Domain | Start | End | E-Value | Type |
Pfam:FAD_binding_3
|
44 |
240 |
2.9e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142223
|
Meta Mutation Damage Score |
0.1568 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
Validation Efficiency |
100% (59/59) |
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 |
Aadacl2fm3 |
A |
T |
3: 59,784,640 (GRCm39) |
H371L |
probably damaging |
Het |
Atad5 |
T |
C |
11: 80,002,382 (GRCm39) |
V1058A |
probably benign |
Het |
Baiap2l2 |
T |
C |
15: 79,155,783 (GRCm39) |
H97R |
probably damaging |
Het |
Bax |
A |
G |
7: 45,111,315 (GRCm39) |
S184P |
probably damaging |
Het |
Bsph1 |
T |
G |
7: 13,184,840 (GRCm39) |
M1R |
probably null |
Het |
Cbln2 |
A |
G |
18: 86,731,273 (GRCm39) |
D27G |
probably benign |
Het |
Cntnap3 |
G |
A |
13: 65,051,572 (GRCm39) |
A28V |
probably damaging |
Het |
Col6a3 |
C |
A |
1: 90,715,938 (GRCm39) |
R1641L |
unknown |
Het |
Dhrs3 |
T |
G |
4: 144,620,134 (GRCm39) |
I17S |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,527,418 (GRCm39) |
|
probably benign |
Het |
Epb41 |
T |
C |
4: 131,664,717 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
T |
3: 39,064,423 (GRCm39) |
E4793V |
probably damaging |
Het |
Fbxw22 |
T |
G |
9: 109,232,156 (GRCm39) |
K80N |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,855,994 (GRCm39) |
D1927G |
probably damaging |
Het |
Fndc7 |
T |
C |
3: 108,763,724 (GRCm39) |
I639V |
possibly damaging |
Het |
Folh1 |
T |
C |
7: 86,383,328 (GRCm39) |
Y473C |
probably damaging |
Het |
Foxb2 |
T |
A |
19: 16,850,131 (GRCm39) |
M292L |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,605,265 (GRCm39) |
S41P |
probably damaging |
Het |
Gmds |
A |
T |
13: 32,101,704 (GRCm39) |
|
probably null |
Het |
Gp6 |
G |
T |
7: 4,371,899 (GRCm39) |
A302D |
probably damaging |
Het |
Hmgcr |
A |
T |
13: 96,803,171 (GRCm39) |
M8K |
probably benign |
Het |
Itpripl2 |
C |
T |
7: 118,089,092 (GRCm39) |
R489Q |
probably damaging |
Het |
Lce1i |
C |
T |
3: 92,684,988 (GRCm39) |
G63S |
unknown |
Het |
Lrp1b |
T |
C |
2: 41,298,354 (GRCm39) |
Q155R |
probably damaging |
Het |
Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
Neto2 |
C |
T |
8: 86,367,173 (GRCm39) |
D524N |
probably damaging |
Het |
Oga |
T |
C |
19: 45,765,445 (GRCm39) |
T121A |
probably benign |
Het |
Or1j10 |
A |
G |
2: 36,267,129 (GRCm39) |
T114A |
probably benign |
Het |
Or2ak6 |
T |
A |
11: 58,592,877 (GRCm39) |
F117I |
probably damaging |
Het |
Or5bw2 |
T |
C |
7: 6,573,824 (GRCm39) |
I278T |
possibly damaging |
Het |
Or5h17 |
A |
T |
16: 58,820,569 (GRCm39) |
I174L |
probably benign |
Het |
Ppp4r1 |
C |
T |
17: 66,110,856 (GRCm39) |
Q21* |
probably null |
Het |
Ryr2 |
T |
A |
13: 11,570,334 (GRCm39) |
T4930S |
possibly damaging |
Het |
Scart2 |
T |
A |
7: 139,829,036 (GRCm39) |
C232S |
probably damaging |
Het |
Siae |
G |
A |
9: 37,528,219 (GRCm39) |
G64D |
probably benign |
Het |
Slc14a2 |
T |
C |
18: 78,252,282 (GRCm39) |
M10V |
possibly damaging |
Het |
Ssrp1 |
C |
G |
2: 84,874,669 (GRCm39) |
D496E |
probably damaging |
Het |
Steap2 |
A |
G |
5: 5,725,912 (GRCm39) |
S371P |
probably damaging |
Het |
Taf6l |
G |
A |
19: 8,761,294 (GRCm39) |
R24W |
probably damaging |
Het |
Tbkbp1 |
T |
C |
11: 97,039,555 (GRCm39) |
Q118R |
probably damaging |
Het |
Tln2 |
C |
T |
9: 67,241,602 (GRCm39) |
G1001E |
possibly damaging |
Het |
Tm2d3 |
A |
G |
7: 65,348,872 (GRCm39) |
N184D |
probably damaging |
Het |
Tmprss2 |
A |
T |
16: 97,392,071 (GRCm39) |
W131R |
probably null |
Het |
Ube2d2a |
A |
G |
18: 35,903,531 (GRCm39) |
|
probably benign |
Het |
Unc13d |
A |
G |
11: 115,954,480 (GRCm39) |
Y1043H |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,407,975 (GRCm39) |
I2600K |
probably damaging |
Het |
Vmn1r198 |
A |
G |
13: 22,539,168 (GRCm39) |
Y218C |
probably damaging |
Het |
Vmn2r8 |
T |
C |
5: 108,950,106 (GRCm39) |
Y247C |
probably damaging |
Het |
Wdr59 |
A |
T |
8: 112,192,463 (GRCm39) |
N699K |
probably damaging |
Het |
Zcchc2 |
T |
C |
1: 105,951,402 (GRCm39) |
V579A |
probably benign |
Het |
Zfhx3 |
A |
T |
8: 109,682,623 (GRCm39) |
Q3354L |
unknown |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGGGGAAATGACCATCG -3'
(R):5'- GGGACACCGATTTCCAAAGAGG -3'
Sequencing Primer
(F):5'- GAAATGACCATCGTTTCCATGTGG -3'
(R):5'- CTGGGTATTCAGAAAGTATCCGC -3'
|
Posted On |
2016-10-24 |