Incidental Mutation 'R1180:Kyat3'
| ID |
101462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kyat3
|
| Ensembl Gene |
ENSMUSG00000040213 |
| Gene Name |
kynurenine aminotransferase 3 |
| Synonyms |
Ccbl2, Kat3, KATIII |
| MMRRC Submission |
039252-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R1180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142406780-142450672 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 142443531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044392]
[ENSMUST00000106218]
[ENSMUST00000129775]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000128096
|
| 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: ENSMUST00000198957
|
| Meta Mutation Damage Score |
0.9497 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 87.5%
|
| Validation Efficiency |
98% (55/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,141 (GRCm39) |
D281E |
probably benign |
Het |
| Adam24 |
T |
G |
8: 41,134,467 (GRCm39) |
V645G |
probably damaging |
Het |
| Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,457,836 (GRCm38) |
|
probably benign |
Het |
| Camk1d |
A |
T |
2: 5,366,836 (GRCm39) |
Y126* |
probably null |
Het |
| Chd8 |
A |
C |
14: 52,458,565 (GRCm39) |
S848A |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,709,577 (GRCm39) |
K1873R |
unknown |
Het |
| Cpd |
T |
C |
11: 76,692,579 (GRCm39) |
T753A |
possibly damaging |
Het |
| Cxcr2 |
A |
T |
1: 74,197,527 (GRCm39) |
D7V |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,690,413 (GRCm39) |
E173G |
possibly damaging |
Het |
| EU599041 |
G |
A |
7: 42,875,731 (GRCm39) |
|
noncoding transcript |
Het |
| Fer1l6 |
G |
A |
15: 58,474,160 (GRCm39) |
|
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,278,048 (GRCm39) |
D842G |
probably damaging |
Het |
| Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,805,570 (GRCm39) |
Y630H |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,921 (GRCm39) |
V129F |
possibly damaging |
Het |
| Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
| Hoxa3 |
A |
C |
6: 52,147,382 (GRCm39) |
Y290* |
probably null |
Het |
| Htra4 |
G |
T |
8: 25,523,735 (GRCm39) |
L277I |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,259,899 (GRCm39) |
Y266C |
probably damaging |
Het |
| Kif6 |
T |
A |
17: 50,139,284 (GRCm39) |
|
probably benign |
Het |
| Kiz |
C |
T |
2: 146,811,927 (GRCm39) |
R679C |
unknown |
Het |
| Mipep |
G |
A |
14: 61,071,505 (GRCm39) |
V537I |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,755,677 (GRCm39) |
N94K |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,167 (GRCm39) |
T168S |
possibly damaging |
Het |
| Mx2 |
G |
A |
16: 97,357,209 (GRCm39) |
R434H |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,181,925 (GRCm39) |
I1792T |
possibly damaging |
Het |
| Myo16 |
T |
C |
8: 10,446,908 (GRCm39) |
S450P |
probably damaging |
Het |
| Nherf4 |
T |
A |
9: 44,160,543 (GRCm39) |
D284V |
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,655,381 (GRCm39) |
|
probably null |
Het |
| Psmd8 |
A |
T |
7: 28,874,825 (GRCm39) |
V248E |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,301,285 (GRCm39) |
Y646C |
probably damaging |
Het |
| Samsn1 |
C |
T |
16: 75,670,536 (GRCm39) |
G189E |
probably damaging |
Het |
| Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
| Sfmbt2 |
C |
T |
2: 10,406,877 (GRCm39) |
H59Y |
probably damaging |
Het |
| Shb |
T |
C |
4: 45,423,996 (GRCm39) |
I486V |
possibly damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Spag16 |
G |
A |
1: 69,962,817 (GRCm39) |
|
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tk1 |
A |
G |
11: 117,712,921 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,102,700 (GRCm39) |
|
probably benign |
Het |
| Utp14b |
C |
A |
1: 78,643,162 (GRCm39) |
N353K |
probably damaging |
Het |
| Zfp474 |
C |
T |
18: 52,771,814 (GRCm39) |
Q156* |
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 |
|
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'- TCGACTTGTCAGTCAACTTCATCACAC -3'
(R):5'- GGGCCACAGACATTAGAAACATACTGC -3'
Sequencing Primer
(F):5'- CACAGTGTGAGACTCCAGCAG -3'
(R):5'- ccaaggctacagagtgagac -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation