Incidental Mutation 'IGL01524:Kynu'
| ID |
89517 |
| 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 # |
IGL01524
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
43445341-43572734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43561394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 310
(D310G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028223]
[ENSMUST00000112826]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028223
AA Change: D310G
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028223
Gene: ENSMUSG00000026866
AA Change: D310G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_5
|
70 |
400 |
3.8e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112826
AA Change: D310G
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108445
Gene: ENSMUSG00000026866
AA Change: D310G
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,969,106 (GRCm39) |
D117V |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,852,644 (GRCm39) |
Y870H |
possibly damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,585,092 (GRCm39) |
I301T |
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,150,672 (GRCm39) |
S1457T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,996,531 (GRCm39) |
D1081G |
possibly damaging |
Het |
| Ccdc175 |
G |
A |
12: 72,177,916 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,389,628 (GRCm39) |
K224E |
probably benign |
Het |
| Cep131 |
C |
T |
11: 119,956,786 (GRCm39) |
A886T |
probably damaging |
Het |
| Clip1 |
A |
C |
5: 123,717,442 (GRCm39) |
H1282Q |
probably damaging |
Het |
| Ctcfl |
T |
G |
2: 172,959,177 (GRCm39) |
D183A |
probably benign |
Het |
| Cyp17a1 |
C |
T |
19: 46,659,495 (GRCm39) |
V112I |
probably benign |
Het |
| Fhod3 |
T |
C |
18: 25,263,659 (GRCm39) |
I1521T |
probably damaging |
Het |
| Gipc2 |
A |
G |
3: 151,843,214 (GRCm39) |
I141T |
probably damaging |
Het |
| Glo1 |
T |
C |
17: 30,815,393 (GRCm39) |
R141G |
possibly damaging |
Het |
| Ipmk |
C |
A |
10: 71,208,631 (GRCm39) |
A140E |
probably damaging |
Het |
| Myo1f |
T |
A |
17: 33,798,857 (GRCm39) |
I174N |
probably damaging |
Het |
| Nat10 |
T |
A |
2: 103,588,102 (GRCm39) |
N8Y |
probably damaging |
Het |
| Nhlrc2 |
A |
G |
19: 56,564,587 (GRCm39) |
I304V |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,491,979 (GRCm39) |
H31R |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,505,995 (GRCm39) |
V644A |
possibly damaging |
Het |
| Slc30a4 |
T |
A |
2: 122,544,308 (GRCm39) |
K11N |
possibly damaging |
Het |
| Slc6a3 |
T |
C |
13: 73,686,668 (GRCm39) |
S12P |
probably benign |
Het |
| Spats2 |
C |
T |
15: 99,110,127 (GRCm39) |
A508V |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,952,820 (GRCm39) |
Y55H |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,188,844 (GRCm39) |
I172T |
possibly damaging |
Het |
| Trim17 |
A |
G |
11: 58,861,423 (GRCm39) |
T279A |
probably damaging |
Het |
| Vmn1r216 |
C |
A |
13: 23,283,519 (GRCm39) |
N67K |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,411,996 (GRCm39) |
L709P |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,230,132 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,309,036 (GRCm39) |
P754L |
probably damaging |
Het |
| Zfp267 |
T |
C |
3: 36,218,729 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,528 (GRCm39) |
S161R |
probably benign |
Het |
| Zmat3 |
G |
A |
3: 32,395,827 (GRCm39) |
R227C |
possibly damaging |
Het |
|
| Other mutations in Kynu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01974:Kynu
|
APN |
2 |
43,571,352 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2013-12-03 |
Incidental Mutation