Incidental Mutation 'R1013:Kyat3'
ID |
95843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kyat3
|
Ensembl Gene |
ENSMUSG00000040213 |
Gene Name |
kynurenine aminotransferase 3 |
Synonyms |
Ccbl2, Kat3, KATIII |
MMRRC Submission |
039117-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
R1013 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
142406780-142450672 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142432007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 245
(I245T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044392]
[ENSMUST00000106218]
[ENSMUST00000129775]
[ENSMUST00000199519]
|
AlphaFold |
Q71RI9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044392
AA Change: I210T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041675 Gene: ENSMUSG00000040213 AA Change: I210T
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_1_2
|
29 |
411 |
5.8e-54 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106218
AA Change: I245T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101825 Gene: ENSMUSG00000040213 AA Change: I245T
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 |
|
Meta Mutation Damage Score |
0.9005 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.4%
|
Validation Efficiency |
98% (39/40) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
Bclaf1 |
T |
A |
10: 20,207,822 (GRCm39) |
|
probably benign |
Het |
Bicdl2 |
A |
G |
17: 23,884,377 (GRCm39) |
|
probably benign |
Het |
C8a |
T |
C |
4: 104,685,236 (GRCm39) |
I336V |
probably benign |
Het |
Calcr |
A |
T |
6: 3,692,621 (GRCm39) |
V374D |
probably damaging |
Het |
Col28a1 |
A |
G |
6: 7,999,452 (GRCm39) |
|
probably benign |
Het |
Cuedc1 |
C |
T |
11: 88,078,853 (GRCm39) |
A327V |
possibly damaging |
Het |
Cul2 |
C |
A |
18: 3,425,535 (GRCm39) |
Y378* |
probably null |
Het |
Dnaaf10 |
A |
G |
11: 17,178,183 (GRCm39) |
K226E |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
TG |
TGNG |
19: 11,489,147 (GRCm39) |
|
probably null |
Het |
Hivep1 |
A |
G |
13: 42,310,438 (GRCm39) |
R893G |
probably damaging |
Het |
Il10rb |
A |
G |
16: 91,211,581 (GRCm39) |
N140D |
probably benign |
Het |
Itga4 |
A |
G |
2: 79,150,847 (GRCm39) |
M818V |
probably benign |
Het |
Lck |
C |
T |
4: 129,451,920 (GRCm39) |
C20Y |
probably damaging |
Het |
Mcm6 |
T |
G |
1: 128,276,778 (GRCm39) |
S271R |
probably benign |
Het |
Megf10 |
A |
G |
18: 57,394,291 (GRCm39) |
I472V |
probably benign |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mrpl11 |
T |
C |
19: 5,013,651 (GRCm39) |
I144T |
possibly damaging |
Het |
Or2t26 |
G |
A |
11: 49,039,977 (GRCm39) |
V298M |
probably damaging |
Het |
Or8k25 |
G |
A |
2: 86,244,319 (GRCm39) |
P26S |
possibly damaging |
Het |
Pcdhb17 |
A |
G |
18: 37,619,020 (GRCm39) |
D270G |
probably damaging |
Het |
Plg |
G |
A |
17: 12,597,608 (GRCm39) |
|
probably benign |
Het |
Ppp3cb |
T |
A |
14: 20,574,072 (GRCm39) |
E255D |
probably benign |
Het |
Psenen |
A |
G |
7: 30,261,802 (GRCm39) |
F38S |
possibly damaging |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Sorl1 |
T |
C |
9: 41,913,855 (GRCm39) |
N1358S |
probably benign |
Het |
Trim3 |
G |
A |
7: 105,267,102 (GRCm39) |
P426S |
probably benign |
Het |
Ttc28 |
T |
C |
5: 111,424,831 (GRCm39) |
M1552T |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,840,614 (GRCm39) |
D79G |
probably benign |
Het |
Zcchc14 |
A |
G |
8: 122,333,664 (GRCm39) |
|
probably benign |
Het |
Zfp354a |
T |
C |
11: 50,951,677 (GRCm39) |
|
probably benign |
Het |
Zfp729a |
T |
C |
13: 67,767,626 (GRCm39) |
I868V |
probably benign |
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 |
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 |
R4165:Kyat3
|
UTSW |
3 |
142,432,066 (GRCm39) |
splice site |
probably null |
|
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 |
PCR Primer
(F):5'- AGCTCTGACTGGACATTCGATCCTC -3'
(R):5'- TCCTGTAAGTGTCGCACAGATGCC -3'
Sequencing Primer
(F):5'- GTAAATTCAGTTCCAAAACGAAAGC -3'
(R):5'- GCCCATCACAGAGACTATTTTAAAGC -3'
|
Posted On |
2014-01-05 |