Incidental Mutation 'R5031:Kyat1'
| ID |
391676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kyat1
|
| Ensembl Gene |
ENSMUSG00000039648 |
| Gene Name |
kynurenine aminotransferase 1 |
| Synonyms |
Ccbl1, 2010009K05Rik, KATI, Kat1, cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) |
| MMRRC Submission |
042622-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.658)
|
| Stock # |
R5031 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30075136-30095859 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30078102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 134
(M134T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044038]
[ENSMUST00000113659]
[ENSMUST00000113660]
[ENSMUST00000113661]
[ENSMUST00000113662]
[ENSMUST00000113663]
|
| AlphaFold |
Q8BTY1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044038
AA Change: M134T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038612
Gene: ENSMUSG00000039648
AA Change: M134T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
28 |
415 |
1.1e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113659
AA Change: M84T
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109289
Gene: ENSMUSG00000039648
AA Change: M84T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
53 |
365 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113660
AA Change: M134T
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109290
Gene: ENSMUSG00000039648
AA Change: M134T
| 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 damaging
Transcript: ENSMUST00000113661
AA Change: M134T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109291
Gene: ENSMUSG00000039648
AA Change: M134T
| 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 damaging
Transcript: ENSMUST00000113662
AA Change: M134T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109292
Gene: ENSMUSG00000039648
AA Change: M134T
| 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 damaging
Transcript: ENSMUST00000113663
AA Change: M134T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109293
Gene: ENSMUSG00000039648
AA Change: M134T
| 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
|
| Meta Mutation Damage Score |
0.7752 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 89.9%
|
| Validation Efficiency |
100% (52/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,247,678 (GRCm39) |
N2475I |
probably damaging |
Het |
| Acnat2 |
T |
C |
4: 49,380,631 (GRCm39) |
K231R |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,589,696 (GRCm39) |
P599L |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,978,121 (GRCm39) |
E580G |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,747,755 (GRCm39) |
K346E |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,030,468 (GRCm39) |
K309E |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,743,151 (GRCm39) |
R1607G |
probably benign |
Het |
| Cct8 |
C |
T |
16: 87,284,426 (GRCm39) |
V254M |
probably damaging |
Het |
| Cdca2 |
T |
A |
14: 67,950,602 (GRCm39) |
I110F |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,522,588 (GRCm39) |
C2694S |
probably damaging |
Het |
| Dmkn |
A |
G |
7: 30,463,661 (GRCm39) |
I105V |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,753,975 (GRCm39) |
D1584G |
probably benign |
Het |
| Epg5 |
G |
A |
18: 78,072,163 (GRCm39) |
V2392I |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,447,824 (GRCm39) |
S294N |
possibly damaging |
Het |
| Hectd2 |
A |
G |
19: 36,577,004 (GRCm39) |
N142D |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,464,008 (GRCm39) |
C5091R |
probably damaging |
Het |
| Ifitm5 |
G |
A |
7: 140,530,017 (GRCm39) |
R36* |
probably null |
Het |
| Ints2 |
G |
A |
11: 86,147,026 (GRCm39) |
P40L |
probably damaging |
Het |
| Irs1 |
A |
T |
1: 82,264,688 (GRCm39) |
L1176* |
probably null |
Het |
| Klhl29 |
C |
T |
12: 5,141,334 (GRCm39) |
R550Q |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,584,822 (GRCm39) |
N384Y |
possibly damaging |
Het |
| Magel2 |
T |
C |
7: 62,029,852 (GRCm39) |
S919P |
unknown |
Het |
| Mettl16 |
A |
T |
11: 74,693,825 (GRCm39) |
I279F |
probably benign |
Het |
| Mmut |
T |
C |
17: 41,249,718 (GRCm39) |
F231S |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,984,985 (GRCm39) |
Y231* |
probably null |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mvp |
A |
C |
7: 126,592,788 (GRCm39) |
Y374* |
probably null |
Het |
| Nabp2 |
G |
A |
10: 128,245,497 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,017,378 (GRCm39) |
P247L |
probably benign |
Het |
| Or10ag53 |
C |
A |
2: 87,082,426 (GRCm39) |
F48L |
probably benign |
Het |
| Or9g4b |
T |
A |
2: 85,616,062 (GRCm39) |
L69* |
probably null |
Het |
| Pik3cb |
C |
T |
9: 98,953,461 (GRCm39) |
D441N |
probably damaging |
Het |
| Qrich1 |
C |
T |
9: 108,418,935 (GRCm39) |
P464S |
possibly damaging |
Het |
| Rab17 |
A |
T |
1: 90,887,860 (GRCm39) |
|
probably null |
Het |
| Relch |
A |
G |
1: 105,592,239 (GRCm39) |
N136S |
probably damaging |
Het |
| Rspo3 |
A |
T |
10: 29,382,443 (GRCm39) |
L77H |
probably damaging |
Het |
| Spn |
G |
T |
7: 126,736,402 (GRCm39) |
T35K |
probably benign |
Het |
| Sult1d1 |
T |
A |
5: 87,707,703 (GRCm39) |
Y139F |
possibly damaging |
Het |
| Tbc1d32 |
C |
A |
10: 55,999,627 (GRCm39) |
Q848H |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tram1l1 |
T |
A |
3: 124,115,293 (GRCm39) |
L151* |
probably null |
Het |
| Trappc12 |
T |
A |
12: 28,742,512 (GRCm39) |
I682L |
possibly damaging |
Het |
| Trav6d-4 |
A |
C |
14: 52,991,056 (GRCm39) |
T31P |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,275,910 (GRCm39) |
T503A |
probably benign |
Het |
| Virma |
T |
A |
4: 11,542,116 (GRCm39) |
Y1567* |
probably null |
Het |
| Vmn1r228 |
T |
A |
17: 20,996,943 (GRCm39) |
K192* |
probably null |
Het |
| Zfp521 |
T |
A |
18: 13,977,330 (GRCm39) |
T1028S |
possibly damaging |
Het |
| Zfp583 |
T |
A |
7: 6,320,397 (GRCm39) |
Q205L |
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 |
|
IGL02864:Kyat1
|
APN |
2 |
30,082,089 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTGCCAATCATTGCTGG -3'
(R):5'- TATGGGGCCTTGTTCACAGC -3'
Sequencing Primer
(F):5'- GGGAGCAGTATTTACTTTCCTGACC -3'
(R):5'- GGCCTTGTTCACAGCCTTTCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation