Incidental Mutation 'R4165:Kyat3'
ID |
470001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kyat3
|
Ensembl Gene |
ENSMUSG00000040213 |
Gene Name |
kynurenine aminotransferase 3 |
Synonyms |
Ccbl2, Kat3, KATIII |
MMRRC Submission |
041007-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
R4165 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
142406780-142450672 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to G
at 142432066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044392]
[ENSMUST00000106218]
[ENSMUST00000129775]
[ENSMUST00000199519]
|
AlphaFold |
Q71RI9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044392
|
SMART Domains |
Protein: ENSMUSP00000041675 Gene: ENSMUSG00000040213
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_1_2
|
29 |
411 |
5.8e-54 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106218
|
SMART Domains |
Protein: ENSMUSP00000101825 Gene: ENSMUSG00000040213
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_1_2
|
64 |
446 |
4.8e-53 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129775
|
SMART Domains |
Protein: ENSMUSP00000121687 Gene: ENSMUSG00000040213
Domain | Start | End | E-Value | Type |
PDB:3E2Z|B
|
7 |
69 |
3e-37 |
PDB |
SCOP:d1gdea_
|
8 |
70 |
1e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137623
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196928
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199519
|
SMART Domains |
Protein: ENSMUSP00000143531 Gene: ENSMUSG00000040213
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_1_2
|
29 |
194 |
7.1e-23 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
97% (38/39) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid, which is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Mar 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
A |
6: 86,827,044 (GRCm39) |
F4I |
probably damaging |
Het |
Adamts8 |
G |
T |
9: 30,862,684 (GRCm39) |
E296D |
probably benign |
Het |
Alg11 |
T |
C |
8: 22,555,573 (GRCm39) |
V278A |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
Avil |
C |
T |
10: 126,842,496 (GRCm39) |
Q92* |
probably null |
Het |
Cfap300 |
A |
T |
9: 8,026,071 (GRCm39) |
L167Q |
probably damaging |
Het |
CK137956 |
A |
T |
4: 127,864,522 (GRCm39) |
S36T |
possibly damaging |
Het |
Epb41l3 |
T |
C |
17: 69,514,883 (GRCm39) |
S7P |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
Gm5174 |
A |
G |
10: 86,492,797 (GRCm39) |
|
noncoding transcript |
Het |
Gpaa1 |
A |
C |
15: 76,216,667 (GRCm39) |
|
probably benign |
Het |
Grina |
T |
A |
15: 76,133,529 (GRCm39) |
L334Q |
probably damaging |
Het |
Gvin-ps5 |
T |
A |
7: 105,929,895 (GRCm39) |
|
noncoding transcript |
Het |
Igkv15-103 |
G |
T |
6: 68,414,824 (GRCm39) |
G88* |
probably null |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Kdm3b |
A |
T |
18: 34,928,797 (GRCm39) |
I183F |
probably benign |
Het |
Larp7 |
A |
G |
3: 127,330,611 (GRCm39) |
Y569H |
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,460,025 (GRCm39) |
I758F |
probably damaging |
Het |
Nr1d2 |
T |
C |
14: 18,215,446 (GRCm38) |
I189V |
probably benign |
Het |
Odad2 |
A |
T |
18: 7,217,008 (GRCm39) |
I668K |
probably damaging |
Het |
Pcdhb19 |
T |
A |
18: 37,632,243 (GRCm39) |
N679K |
probably benign |
Het |
Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
Prap1 |
T |
A |
7: 139,676,091 (GRCm39) |
V35E |
probably benign |
Het |
Prdm1 |
T |
A |
10: 44,317,572 (GRCm39) |
Y417F |
probably benign |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rps3 |
T |
C |
7: 99,132,816 (GRCm39) |
I5V |
probably benign |
Het |
Sema3a |
A |
T |
5: 13,523,364 (GRCm39) |
|
probably null |
Het |
Serpina3g |
A |
T |
12: 104,206,546 (GRCm39) |
T116S |
probably benign |
Het |
Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
Slc22a28 |
A |
G |
19: 8,040,773 (GRCm39) |
S493P |
possibly damaging |
Het |
Snapc1 |
G |
T |
12: 74,029,354 (GRCm39) |
|
probably null |
Het |
Sobp |
C |
T |
10: 42,897,644 (GRCm39) |
G647D |
probably damaging |
Het |
Tomm22 |
C |
A |
15: 79,555,206 (GRCm39) |
|
probably benign |
Het |
Trappc11 |
T |
C |
8: 47,978,003 (GRCm39) |
|
probably benign |
Het |
Txnl4a |
T |
A |
18: 80,265,471 (GRCm39) |
M112K |
probably benign |
Het |
Vmn2r16 |
T |
C |
5: 109,478,427 (GRCm39) |
F61L |
possibly damaging |
Het |
Zfp709 |
C |
T |
8: 72,644,649 (GRCm39) |
Q693* |
probably null |
Het |
|
Other mutations in Kyat3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Kyat3
|
APN |
3 |
142,440,235 (GRCm39) |
missense |
probably benign |
0.25 |
IGL00228:Kyat3
|
APN |
3 |
142,432,018 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02065:Kyat3
|
APN |
3 |
142,426,136 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02529:Kyat3
|
APN |
3 |
142,426,235 (GRCm39) |
missense |
probably benign |
|
IGL02665:Kyat3
|
APN |
3 |
142,440,227 (GRCm39) |
splice site |
probably null |
|
IGL03399:Kyat3
|
APN |
3 |
142,431,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R1013:Kyat3
|
UTSW |
3 |
142,432,007 (GRCm39) |
missense |
probably damaging |
0.97 |
R1180:Kyat3
|
UTSW |
3 |
142,443,531 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1181:Kyat3
|
UTSW |
3 |
142,443,531 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1236:Kyat3
|
UTSW |
3 |
142,444,020 (GRCm39) |
missense |
probably benign |
|
R1826:Kyat3
|
UTSW |
3 |
142,428,940 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3792:Kyat3
|
UTSW |
3 |
142,443,605 (GRCm39) |
missense |
probably null |
0.29 |
R4332:Kyat3
|
UTSW |
3 |
142,431,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Kyat3
|
UTSW |
3 |
142,437,054 (GRCm39) |
critical splice donor site |
probably null |
|
R5257:Kyat3
|
UTSW |
3 |
142,440,337 (GRCm39) |
missense |
probably benign |
0.07 |
R5396:Kyat3
|
UTSW |
3 |
142,440,367 (GRCm39) |
missense |
probably benign |
0.03 |
R5687:Kyat3
|
UTSW |
3 |
142,440,343 (GRCm39) |
missense |
probably null |
0.00 |
R5933:Kyat3
|
UTSW |
3 |
142,429,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R6374:Kyat3
|
UTSW |
3 |
142,443,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R6537:Kyat3
|
UTSW |
3 |
142,435,573 (GRCm39) |
missense |
probably benign |
0.12 |
R6938:Kyat3
|
UTSW |
3 |
142,431,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R7092:Kyat3
|
UTSW |
3 |
142,435,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R7176:Kyat3
|
UTSW |
3 |
142,443,600 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7203:Kyat3
|
UTSW |
3 |
142,426,162 (GRCm39) |
missense |
probably damaging |
0.97 |
R7252:Kyat3
|
UTSW |
3 |
142,426,219 (GRCm39) |
missense |
probably benign |
0.05 |
R7487:Kyat3
|
UTSW |
3 |
142,431,955 (GRCm39) |
nonsense |
probably null |
|
R7522:Kyat3
|
UTSW |
3 |
142,440,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R7729:Kyat3
|
UTSW |
3 |
142,432,066 (GRCm39) |
splice site |
probably null |
|
R8978:Kyat3
|
UTSW |
3 |
142,443,596 (GRCm39) |
missense |
probably benign |
0.11 |
R9773:Kyat3
|
UTSW |
3 |
142,431,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
|
Posted On |
2017-03-06 |