Incidental Mutation 'R2345:Kynu'
ID |
245966 |
Institutional Source |
Beutler Lab
|
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 # |
R2345 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
43445341-43572734 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 43471397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 71
(Y71S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028223]
[ENSMUST00000050511]
[ENSMUST00000112826]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028223
AA Change: Y71S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028223 Gene: ENSMUSG00000026866 AA Change: Y71S
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
70 |
400 |
3.8e-15 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050511
AA Change: Y71S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000061775 Gene: ENSMUSG00000026866 AA Change: Y71S
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
70 |
307 |
7.8e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112826
AA Change: Y71S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108445 Gene: ENSMUSG00000026866 AA Change: Y71S
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
70 |
405 |
8.4e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.9643 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (30/30) |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn3 |
A |
T |
12: 101,914,580 (GRCm39) |
M48K |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,210,740 (GRCm39) |
E638G |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Ceacam3 |
T |
G |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
Ckb |
G |
A |
12: 111,638,238 (GRCm39) |
T52I |
probably damaging |
Het |
Elac2 |
T |
C |
11: 64,891,900 (GRCm39) |
M773T |
probably damaging |
Het |
Fbxw8 |
A |
T |
5: 118,203,872 (GRCm39) |
|
probably benign |
Het |
Hk3 |
T |
C |
13: 55,156,806 (GRCm39) |
D582G |
probably damaging |
Het |
Htt |
T |
A |
5: 34,983,348 (GRCm39) |
N982K |
possibly damaging |
Het |
Jag2 |
T |
C |
12: 112,872,684 (GRCm39) |
E1190G |
probably damaging |
Het |
Kcnc1 |
A |
G |
7: 46,047,370 (GRCm39) |
E90G |
probably damaging |
Het |
Lonrf1 |
A |
T |
8: 36,690,016 (GRCm39) |
|
probably null |
Het |
Mfsd4b3-ps |
T |
A |
10: 39,824,069 (GRCm39) |
M64L |
probably benign |
Het |
Nbea |
A |
T |
3: 55,992,700 (GRCm39) |
F302Y |
probably damaging |
Het |
Ndst4 |
T |
C |
3: 125,501,769 (GRCm39) |
S111P |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or1f19 |
G |
A |
16: 3,411,003 (GRCm39) |
V248M |
probably damaging |
Het |
Or5m8 |
A |
G |
2: 85,822,166 (GRCm39) |
T2A |
probably benign |
Het |
Or8b57 |
T |
G |
9: 40,003,849 (GRCm39) |
I138L |
probably benign |
Het |
Phf3 |
G |
T |
1: 30,844,432 (GRCm39) |
S1509* |
probably null |
Het |
Plekhh1 |
A |
T |
12: 79,100,421 (GRCm39) |
I130F |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,238,594 (GRCm39) |
F1953S |
unknown |
Het |
Togaram1 |
T |
A |
12: 65,055,406 (GRCm39) |
S1466T |
probably benign |
Het |
Tox2 |
T |
C |
2: 163,161,518 (GRCm39) |
Y348H |
probably damaging |
Het |
Vmn2r129 |
T |
A |
4: 156,689,334 (GRCm39) |
|
noncoding transcript |
Het |
Wdr90 |
G |
T |
17: 26,078,136 (GRCm39) |
H411N |
probably benign |
Het |
Yme1l1 |
C |
T |
2: 23,084,798 (GRCm39) |
T632I |
probably damaging |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCTCCATGTAAAATACAAAAGGTC -3'
(R):5'- ATATGCTAGGGTGTAACTTGTCC -3'
Sequencing Primer
(F):5'- GGTCAAATACTGTTCAGAGCCTG -3'
(R):5'- GCTAGGGTGTAACTTGTCCAAATCAG -3'
|
Posted On |
2014-10-30 |