Incidental Mutation 'R6342:Kynu'
ID |
513906 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kynu
|
Ensembl Gene |
ENSMUSG00000026866 |
Gene Name |
kynureninase |
Synonyms |
L-kynurenine hydrolase, 4432411A05Rik |
MMRRC Submission |
044496-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6342 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
43445341-43572734 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 43571463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 460
(D460Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028223]
[ENSMUST00000112826]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028223
AA Change: D460Y
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000028223 Gene: ENSMUSG00000026866 AA Change: D460Y
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
|
Meta Mutation Damage Score |
0.1148 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
97% (31/32) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa9 |
T |
C |
3: 95,204,101 (GRCm39) |
*346W |
probably null |
Het |
Ap4b1 |
T |
C |
3: 103,720,684 (GRCm39) |
V118A |
possibly damaging |
Het |
Atrnl1 |
T |
C |
19: 57,626,942 (GRCm39) |
S183P |
probably damaging |
Het |
Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
Crtc1 |
A |
C |
8: 70,892,207 (GRCm39) |
M1R |
probably null |
Het |
Dalrd3 |
A |
T |
9: 108,448,322 (GRCm39) |
K291* |
probably null |
Het |
Dhrs9 |
C |
T |
2: 69,223,531 (GRCm39) |
T93M |
probably benign |
Het |
Dnmt1 |
G |
T |
9: 20,821,089 (GRCm39) |
S1267* |
probably null |
Het |
Dsg1b |
T |
C |
18: 20,523,300 (GRCm39) |
I109T |
probably damaging |
Het |
Epha3 |
C |
A |
16: 63,403,863 (GRCm39) |
R745L |
probably damaging |
Het |
Evi2 |
A |
G |
11: 79,406,784 (GRCm39) |
S264P |
probably benign |
Het |
Grin2a |
A |
T |
16: 9,397,198 (GRCm39) |
L963Q |
probably damaging |
Het |
Klhdc7a |
T |
A |
4: 139,694,370 (GRCm39) |
R192S |
probably benign |
Het |
Lrfn2 |
G |
A |
17: 49,404,028 (GRCm39) |
G717D |
probably benign |
Het |
Lrp3 |
C |
T |
7: 34,901,731 (GRCm39) |
D696N |
probably benign |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or51a5 |
T |
C |
7: 102,771,563 (GRCm39) |
T143A |
probably damaging |
Het |
Rad17 |
A |
T |
13: 100,755,644 (GRCm39) |
I579N |
probably damaging |
Het |
Rif1 |
T |
A |
2: 52,009,168 (GRCm39) |
Y2316N |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,031,351 (GRCm39) |
D430V |
probably damaging |
Het |
Rp9 |
A |
T |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
Rtl1 |
T |
C |
12: 109,558,735 (GRCm39) |
T1035A |
possibly damaging |
Het |
Slc2a5 |
A |
C |
4: 150,223,983 (GRCm39) |
D225A |
possibly damaging |
Het |
Tlx3 |
A |
T |
11: 33,152,567 (GRCm39) |
V176E |
possibly damaging |
Het |
Trpv3 |
G |
A |
11: 73,174,689 (GRCm39) |
G352D |
probably damaging |
Het |
Ubr4 |
C |
A |
4: 139,156,850 (GRCm39) |
H2292N |
possibly damaging |
Het |
Wee2 |
A |
G |
6: 40,421,189 (GRCm39) |
H93R |
probably benign |
Het |
Xirp2 |
T |
G |
2: 67,341,994 (GRCm39) |
L1412V |
possibly damaging |
Het |
Zfat |
T |
C |
15: 68,052,831 (GRCm39) |
H321R |
probably damaging |
Het |
Zfp623 |
C |
A |
15: 75,819,837 (GRCm39) |
C264* |
probably null |
Het |
Zfp687 |
G |
C |
3: 94,919,188 (GRCm39) |
P195A |
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 |
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 |
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'- ACAATGACAAACATAGGTGCTCATG -3'
(R):5'- AAGCATGCACCAGGTTTTATG -3'
Sequencing Primer
(F):5'- GCTCATGTATTACATTTGAGGGAAG -3'
(R):5'- ACTCCATCACCTTTCAGTG -3'
|
Posted On |
2018-04-27 |