Incidental Mutation 'IGL02864:Kyat1'
| ID |
362299 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kyat1
|
| Ensembl Gene |
ENSMUSG00000039648 |
| Gene Name |
kynurenine aminotransferase 1 |
| Synonyms |
Ccbl1, 2010009K05Rik, KATI, Kat1, cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.658)
|
| Stock # |
IGL02864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30075136-30095859 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 30082089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044038]
[ENSMUST00000113659]
[ENSMUST00000113660]
[ENSMUST00000113661]
[ENSMUST00000113662]
[ENSMUST00000113663]
|
| AlphaFold |
Q8BTY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044038
|
| SMART Domains |
Protein: ENSMUSP00000038612
Gene: ENSMUSG00000039648
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
28 |
415 |
1.1e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113659
|
| SMART Domains |
Protein: ENSMUSP00000109289
Gene: ENSMUSG00000039648
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
53 |
365 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113660
|
| SMART Domains |
Protein: ENSMUSP00000109290
Gene: ENSMUSG00000039648
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
28 |
145 |
1.7e-12 |
PFAM |
|
Pfam:Aminotran_1_2
|
146 |
372 |
1e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113661
|
| SMART Domains |
Protein: ENSMUSP00000109291
Gene: ENSMUSG00000039648
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
28 |
415 |
1.1e-56 |
PFAM |
|
Pfam:DegT_DnrJ_EryC1
|
80 |
214 |
3.7e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113662
|
| SMART Domains |
Protein: ENSMUSP00000109292
Gene: ENSMUSG00000039648
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
28 |
415 |
1.1e-56 |
PFAM |
|
Pfam:DegT_DnrJ_EryC1
|
80 |
214 |
3.7e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113663
|
| SMART Domains |
Protein: ENSMUSP00000109293
Gene: ENSMUSG00000039648
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
28 |
415 |
1.1e-56 |
PFAM |
|
Pfam:DegT_DnrJ_EryC1
|
80 |
214 |
3.7e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149522
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,937,080 (GRCm39) |
R347G |
probably damaging |
Het |
| Actl11 |
G |
A |
9: 107,806,186 (GRCm39) |
A170T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,670 (GRCm39) |
D241G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,835,308 (GRCm39) |
W745R |
probably damaging |
Het |
| Arhgef7 |
G |
A |
8: 11,865,247 (GRCm39) |
V401I |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,663 (GRCm39) |
V1709A |
probably benign |
Het |
| Ccl20 |
T |
C |
1: 83,095,799 (GRCm39) |
|
probably null |
Het |
| Cd209d |
C |
T |
8: 3,927,122 (GRCm39) |
V48I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,374,548 (GRCm39) |
N1559S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,951,829 (GRCm39) |
Y1890C |
probably damaging |
Het |
| Dsel |
A |
T |
1: 111,786,944 (GRCm39) |
M1197K |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,288,938 (GRCm39) |
S259T |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,764,349 (GRCm39) |
G672D |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,063,796 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
A |
G |
6: 42,224,687 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,476,520 (GRCm39) |
C282Y |
probably benign |
Het |
| Hapln3 |
A |
T |
7: 78,767,812 (GRCm39) |
W113R |
probably benign |
Het |
| Ifng |
A |
G |
10: 118,278,561 (GRCm39) |
Y74C |
probably damaging |
Het |
| Las1l |
A |
T |
X: 94,991,446 (GRCm39) |
D308E |
possibly damaging |
Het |
| Mdh1b |
T |
A |
1: 63,760,762 (GRCm39) |
T100S |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,338,806 (GRCm39) |
M810K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,543,685 (GRCm39) |
D593G |
probably damaging |
Het |
| Pnma5 |
A |
T |
X: 72,079,457 (GRCm39) |
D408E |
probably benign |
Het |
| Pramel46 |
G |
T |
5: 95,418,543 (GRCm39) |
A151E |
possibly damaging |
Het |
| Psen2 |
T |
C |
1: 180,073,268 (GRCm39) |
T18A |
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,883,659 (GRCm39) |
V802E |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,297,002 (GRCm39) |
|
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,720,141 (GRCm39) |
N132S |
possibly damaging |
Het |
| Spag9 |
A |
G |
11: 93,997,487 (GRCm39) |
H675R |
probably damaging |
Het |
| Tpra1 |
C |
A |
6: 88,888,868 (GRCm39) |
P350H |
probably damaging |
Het |
| Trim43a |
C |
T |
9: 88,470,165 (GRCm39) |
R324C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,566,675 (GRCm39) |
I28073V |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,767,095 (GRCm39) |
H3023Q |
probably benign |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,661 (GRCm39) |
V261A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,336,286 (GRCm39) |
P103S |
probably benign |
Het |
| Wars1 |
A |
G |
12: 108,848,791 (GRCm39) |
M52T |
probably benign |
Het |
| Zcchc2 |
C |
T |
1: 105,943,814 (GRCm39) |
H460Y |
probably damaging |
Het |
| Zscan12 |
G |
T |
13: 21,552,730 (GRCm39) |
V185F |
probably benign |
Het |
|
| Other mutations in Kyat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02059:Kyat1
|
APN |
2 |
30,075,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02216:Kyat1
|
APN |
2 |
30,077,264 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02975:Kyat1
|
APN |
2 |
30,076,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0193:Kyat1
|
UTSW |
2 |
30,077,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0230:Kyat1
|
UTSW |
2 |
30,084,087 (GRCm39) |
missense |
probably benign |
|
|
R0539:Kyat1
|
UTSW |
2 |
30,078,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Kyat1
|
UTSW |
2 |
30,076,710 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3935:Kyat1
|
UTSW |
2 |
30,075,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Kyat1
|
UTSW |
2 |
30,084,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4685:Kyat1
|
UTSW |
2 |
30,078,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5031:Kyat1
|
UTSW |
2 |
30,078,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Kyat1
|
UTSW |
2 |
30,076,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5722:Kyat1
|
UTSW |
2 |
30,078,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Kyat1
|
UTSW |
2 |
30,082,007 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8000:Kyat1
|
UTSW |
2 |
30,082,065 (GRCm39) |
missense |
probably benign |
|
|
R8231:Kyat1
|
UTSW |
2 |
30,081,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8687:Kyat1
|
UTSW |
2 |
30,075,759 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1176:Kyat1
|
UTSW |
2 |
30,077,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation