Incidental Mutation 'R4241:Kynu'
| ID |
320199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kynu
|
| Ensembl Gene |
ENSMUSG00000026866 |
| Gene Name |
kynureninase |
| Synonyms |
L-kynurenine hydrolase, 4432411A05Rik |
| MMRRC Submission |
041058-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4241 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
43445341-43572734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43571422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 446
(H446L)
|
| 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: H446L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028223
Gene: ENSMUSG00000026866
AA Change: H446L
| 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 |
0.0602 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,548,497 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
C |
T |
19: 5,618,825 (GRCm39) |
L82F |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,500,912 (GRCm39) |
S1113P |
probably damaging |
Het |
| Atoh1 |
A |
C |
6: 64,706,758 (GRCm39) |
N151T |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,361,652 (GRCm39) |
S25R |
probably damaging |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Btbd6 |
C |
T |
12: 112,940,416 (GRCm39) |
A13V |
probably benign |
Het |
| Ccdc83 |
A |
C |
7: 89,896,346 (GRCm39) |
N74K |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,849,165 (GRCm39) |
|
probably null |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col16a1 |
G |
T |
4: 129,992,843 (GRCm39) |
Q1567H |
probably damaging |
Het |
| Coq6 |
A |
T |
12: 84,420,563 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,737,611 (GRCm39) |
D61G |
probably benign |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Cyp2d41-ps |
T |
A |
15: 82,663,787 (GRCm39) |
|
noncoding transcript |
Het |
| Dbt |
T |
C |
3: 116,326,945 (GRCm39) |
I98T |
probably damaging |
Het |
| Eif3e |
G |
A |
15: 43,126,086 (GRCm39) |
T287I |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,760 (GRCm39) |
S1575G |
probably damaging |
Het |
| Gm7135 |
A |
G |
1: 97,281,678 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
A |
T |
2: 118,110,091 (GRCm39) |
S389R |
probably benign |
Het |
| Hax1 |
A |
G |
3: 89,902,997 (GRCm39) |
S257P |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Lingo1 |
A |
G |
9: 56,527,386 (GRCm39) |
F401S |
probably damaging |
Het |
| Lmbrd1 |
C |
T |
1: 24,732,049 (GRCm39) |
Q89* |
probably null |
Het |
| Mov10 |
T |
A |
3: 104,704,592 (GRCm39) |
Q773L |
probably benign |
Het |
| Or52e19 |
G |
T |
7: 102,959,868 (GRCm39) |
*313Y |
probably null |
Het |
| Or7c70 |
T |
A |
10: 78,683,739 (GRCm39) |
R3S |
probably benign |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,982,426 (GRCm39) |
H413R |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Slc10a5 |
A |
G |
3: 10,400,520 (GRCm39) |
S47P |
probably damaging |
Het |
| Sprr3 |
A |
G |
3: 92,364,214 (GRCm39) |
V210A |
possibly damaging |
Het |
| Tcerg1l |
G |
T |
7: 137,999,361 (GRCm39) |
Q8K |
unknown |
Het |
| Ubfd1 |
T |
C |
7: 121,670,977 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,867 (GRCm39) |
D529G |
possibly damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,652,298 (GRCm39) |
I154F |
probably damaging |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Whrn |
C |
T |
4: 63,351,210 (GRCm39) |
|
probably benign |
Het |
| Zfr |
T |
G |
15: 12,149,745 (GRCm39) |
D388E |
probably damaging |
Het |
| Zic5 |
T |
C |
14: 122,702,075 (GRCm39) |
I219V |
probably benign |
Het |
| Zmat5 |
A |
G |
11: 4,678,614 (GRCm39) |
N53D |
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 |
|
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'- GCTCATGTATTACATTTGAGGGAAG -3'
(R):5'- CAGATATTAAAGCATGCACCAGG -3'
Sequencing Primer
(F):5'- ATTACATTTGAGGGAAGTCATGATC -3'
(R):5'- AAGCATGCACCAGGTTTTATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation