Incidental Mutation 'IGL01974:Kynu'
| ID |
181695 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kynu
|
| Ensembl Gene |
ENSMUSG00000026866 |
| Gene Name |
kynureninase |
| Synonyms |
L-kynurenine hydrolase, 4432411A05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
43445341-43572734 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 43571352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028223]
[ENSMUST00000112826]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028223
|
| SMART Domains |
Protein: ENSMUSP00000028223
Gene: ENSMUSG00000026866
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_5
|
70 |
400 |
3.8e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112826
|
| SMART Domains |
Protein: ENSMUSP00000108445
Gene: ENSMUSG00000026866
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_5
|
70 |
405 |
8.4e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148855
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,762 (GRCm39) |
D1401G |
possibly damaging |
Het |
| Adamts2 |
G |
A |
11: 50,667,001 (GRCm39) |
G433S |
probably damaging |
Het |
| Cacna2d2 |
A |
C |
9: 107,394,621 (GRCm39) |
S598R |
probably benign |
Het |
| Cdkl3 |
A |
G |
11: 51,902,064 (GRCm39) |
Q91R |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,842 (GRCm39) |
Y313C |
probably damaging |
Het |
| Clint1 |
C |
A |
11: 45,799,862 (GRCm39) |
N558K |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,180,777 (GRCm39) |
H147R |
probably benign |
Het |
| Ednrb |
A |
C |
14: 104,058,254 (GRCm39) |
Y350D |
probably damaging |
Het |
| Elp2 |
C |
T |
18: 24,759,260 (GRCm39) |
P539L |
probably damaging |
Het |
| Fam217b |
G |
A |
2: 178,063,020 (GRCm39) |
R328Q |
probably damaging |
Het |
| Gm9991 |
G |
T |
1: 90,603,197 (GRCm39) |
|
noncoding transcript |
Het |
| Herc4 |
T |
G |
10: 63,135,020 (GRCm39) |
|
probably null |
Het |
| Hus1 |
T |
C |
11: 8,950,088 (GRCm39) |
N211S |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,849,842 (GRCm39) |
D454G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,103,471 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
A |
T |
19: 25,387,596 (GRCm39) |
N423I |
possibly damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,380,647 (GRCm39) |
S3670A |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,740,583 (GRCm39) |
V30A |
probably benign |
Het |
| Or8k17 |
G |
T |
2: 86,066,304 (GRCm39) |
L292I |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,351,440 (GRCm39) |
R1022Q |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,449,255 (GRCm39) |
Y91F |
probably benign |
Het |
| Sertad4 |
C |
A |
1: 192,529,274 (GRCm39) |
E181* |
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,928,105 (GRCm39) |
C502* |
probably null |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,421 (GRCm39) |
P454L |
probably damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,616,564 (GRCm39) |
R110W |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,417,642 (GRCm39) |
S500Y |
probably benign |
Het |
|
| Other mutations in Kynu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01524:Kynu
|
APN |
2 |
43,561,394 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0099:Kynu
|
UTSW |
2 |
43,519,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0304:Kynu
|
UTSW |
2 |
43,569,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1681:Kynu
|
UTSW |
2 |
43,569,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Kynu
|
UTSW |
2 |
43,494,169 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2016:Kynu
|
UTSW |
2 |
43,494,289 (GRCm39) |
nonsense |
probably null |
|
|
R2345:Kynu
|
UTSW |
2 |
43,471,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3085:Kynu
|
UTSW |
2 |
43,492,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3825:Kynu
|
UTSW |
2 |
43,571,451 (GRCm39) |
missense |
probably benign |
|
|
R4091:Kynu
|
UTSW |
2 |
43,569,884 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4241:Kynu
|
UTSW |
2 |
43,571,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4594:Kynu
|
UTSW |
2 |
43,569,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4673:Kynu
|
UTSW |
2 |
43,569,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Kynu
|
UTSW |
2 |
43,569,830 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5371:Kynu
|
UTSW |
2 |
43,479,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6272:Kynu
|
UTSW |
2 |
43,525,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6342:Kynu
|
UTSW |
2 |
43,571,463 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6866:Kynu
|
UTSW |
2 |
43,453,122 (GRCm39) |
nonsense |
probably null |
|
|
R7203:Kynu
|
UTSW |
2 |
43,571,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8163:Kynu
|
UTSW |
2 |
43,518,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9024:Kynu
|
UTSW |
2 |
43,490,807 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9089:Kynu
|
UTSW |
2 |
43,489,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9303:Kynu
|
UTSW |
2 |
43,569,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9305:Kynu
|
UTSW |
2 |
43,569,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9506:Kynu
|
UTSW |
2 |
43,571,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9702:Kynu
|
UTSW |
2 |
43,479,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:Kynu
|
UTSW |
2 |
43,569,881 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation