Incidental Mutation 'R4332:Kyat3'
| ID |
323616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kyat3
|
| Ensembl Gene |
ENSMUSG00000040213 |
| Gene Name |
kynurenine aminotransferase 3 |
| Synonyms |
Ccbl2, Kat3, KATIII |
| MMRRC Submission |
041099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R4332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142406780-142450672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142431187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 154
(I154M)
|
| 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: I119M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041675
Gene: ENSMUSG00000040213
AA Change: I119M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
29 |
411 |
5.8e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106218
AA Change: I154M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101825
Gene: ENSMUSG00000040213
AA Change: I154M
| 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 damaging
Transcript: ENSMUST00000199519
AA Change: I119M
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143531
Gene: ENSMUSG00000040213
AA Change: I119M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
29 |
194 |
7.1e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.5587 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (56/57) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
T |
C |
8: 106,436,356 (GRCm39) |
I175T |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,634,406 (GRCm39) |
D646G |
probably benign |
Het |
| Acat2 |
T |
C |
17: 13,181,782 (GRCm39) |
|
probably benign |
Het |
| Armc10 |
T |
A |
5: 21,866,579 (GRCm39) |
V281E |
probably damaging |
Het |
| Best3 |
T |
A |
10: 116,838,429 (GRCm39) |
F162L |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,046,446 (GRCm39) |
M360V |
probably benign |
Het |
| Chd7 |
G |
T |
4: 8,854,143 (GRCm39) |
R1905L |
probably damaging |
Het |
| Dhx36 |
C |
T |
3: 62,392,412 (GRCm39) |
R538Q |
probably damaging |
Het |
| Efna2 |
G |
A |
10: 80,024,315 (GRCm39) |
R161Q |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,445,903 (GRCm39) |
T159A |
possibly damaging |
Het |
| Fry |
C |
T |
5: 150,305,128 (GRCm39) |
A611V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,201 (GRCm39) |
T1507A |
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,865,542 (GRCm39) |
|
probably benign |
Het |
| Gm7367 |
T |
C |
7: 59,805,364 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9312 |
A |
T |
12: 24,302,095 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfg |
A |
T |
7: 28,136,997 (GRCm39) |
M1L |
probably benign |
Het |
| Gpr149 |
C |
A |
3: 62,511,794 (GRCm39) |
L68F |
possibly damaging |
Het |
| Hmga2 |
T |
C |
10: 120,200,117 (GRCm39) |
|
probably benign |
Het |
| Il12a |
C |
A |
3: 68,602,594 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
G |
A |
6: 55,945,220 (GRCm39) |
G647D |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,762,611 (GRCm39) |
M1597K |
possibly damaging |
Het |
| Npas3 |
A |
C |
12: 54,108,852 (GRCm39) |
I419L |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,414,910 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or14a259 |
A |
C |
7: 86,013,080 (GRCm39) |
V155G |
probably benign |
Het |
| Or5aq7 |
A |
G |
2: 86,938,089 (GRCm39) |
V214A |
possibly damaging |
Het |
| Or6b6 |
T |
C |
7: 106,571,354 (GRCm39) |
M66V |
probably benign |
Het |
| P2rx3 |
G |
A |
2: 84,855,205 (GRCm39) |
P84S |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,819,099 (GRCm39) |
V657A |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,393 (GRCm39) |
M553V |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,583 (GRCm39) |
F178S |
probably damaging |
Het |
| Plppr4 |
A |
T |
3: 117,116,474 (GRCm39) |
M403K |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,102,288 (GRCm39) |
T1956M |
probably benign |
Het |
| Rbm12b1 |
G |
T |
4: 12,145,655 (GRCm39) |
K542N |
probably benign |
Het |
| Rdh8 |
C |
T |
9: 20,733,925 (GRCm39) |
A37V |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,502 (GRCm39) |
T1830A |
probably damaging |
Het |
| Sardh |
G |
T |
2: 27,105,126 (GRCm39) |
Q666K |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
T |
G |
11: 87,458,730 (GRCm39) |
L368R |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,297,294 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
G |
A |
6: 91,700,452 (GRCm39) |
G60D |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,569,996 (GRCm39) |
D134G |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,831,222 (GRCm39) |
T378A |
probably benign |
Het |
| Tmprss7 |
T |
G |
16: 45,506,690 (GRCm39) |
K124T |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,571,425 (GRCm39) |
L1128P |
probably damaging |
Het |
| Usp32 |
C |
T |
11: 84,994,804 (GRCm39) |
C36Y |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,786,922 (GRCm39) |
T62S |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,578,498 (GRCm39) |
Y136* |
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 |
|
R4165:Kyat3
|
UTSW |
3 |
142,432,066 (GRCm39) |
splice site |
probably null |
|
|
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'- GAACTCCAGCTTTGACTCGC -3'
(R):5'- CTGTAACTATGGGCAACAGGAG -3'
Sequencing Primer
(F):5'- GACTCGCTGGGTGTCTTTATATCC -3'
(R):5'- CTGATGGAGGAGTCTATGAATCACC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation