Incidental Mutation 'R5257:Kyat3'
ID |
399747 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kyat3
|
Ensembl Gene |
ENSMUSG00000040213 |
Gene Name |
kynurenine aminotransferase 3 |
Synonyms |
Ccbl2, Kat3, KATIII |
MMRRC Submission |
042855-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
R5257 (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 142440337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 354
(M354V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044392]
[ENSMUST00000106218]
[ENSMUST00000129775]
|
AlphaFold |
Q71RI9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044392
AA Change: M319V
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000041675 Gene: ENSMUSG00000040213 AA Change: M319V
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_1_2
|
29 |
411 |
5.8e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106218
AA Change: M354V
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000101825 Gene: ENSMUSG00000040213 AA Change: M354V
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: ENSMUST00000137623
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196928
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198957
|
Meta Mutation Damage Score |
0.2616 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
97% (63/65) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,199,684 (GRCm39) |
T128S |
possibly damaging |
Het |
Abca16 |
T |
G |
7: 120,035,992 (GRCm39) |
|
probably null |
Het |
Acp3 |
T |
C |
9: 104,186,674 (GRCm39) |
I266V |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Asf1b |
C |
T |
8: 84,695,896 (GRCm39) |
T179I |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,440,102 (GRCm39) |
K890R |
probably damaging |
Het |
Card11 |
G |
A |
5: 140,862,180 (GRCm39) |
P1039L |
possibly damaging |
Het |
Cep43 |
T |
C |
17: 8,391,775 (GRCm39) |
S152P |
probably benign |
Het |
Chsy3 |
A |
G |
18: 59,542,866 (GRCm39) |
E668G |
possibly damaging |
Het |
Cnot8 |
T |
A |
11: 58,008,348 (GRCm39) |
N271K |
possibly damaging |
Het |
Dcaf5 |
G |
T |
12: 80,444,493 (GRCm39) |
P200H |
probably damaging |
Het |
Dkk4 |
C |
A |
8: 23,117,031 (GRCm39) |
L215I |
probably damaging |
Het |
Dnhd1 |
C |
T |
7: 105,323,244 (GRCm39) |
T584I |
probably benign |
Het |
Dock3 |
T |
C |
9: 106,874,124 (GRCm39) |
Y449C |
probably damaging |
Het |
Dsg1a |
A |
G |
18: 20,453,988 (GRCm39) |
D31G |
probably damaging |
Het |
Foxi2 |
C |
T |
7: 135,012,256 (GRCm39) |
T48M |
probably benign |
Het |
Gdf3 |
T |
C |
6: 122,583,345 (GRCm39) |
M341V |
probably damaging |
Het |
Gm21738 |
A |
G |
14: 19,415,942 (GRCm38) |
L199S |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Igkv4-80 |
T |
A |
6: 68,993,811 (GRCm39) |
T27S |
probably benign |
Het |
Ipo9 |
A |
T |
1: 135,313,173 (GRCm39) |
C1019S |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,904,820 (GRCm39) |
H199Q |
probably benign |
Het |
Lbhd1 |
A |
G |
19: 8,861,453 (GRCm39) |
|
probably benign |
Het |
Llgl1 |
G |
C |
11: 60,602,389 (GRCm39) |
|
probably null |
Het |
Lyzl6 |
T |
A |
11: 103,525,899 (GRCm39) |
I74F |
probably damaging |
Het |
Mfsd4b2 |
T |
A |
10: 39,798,017 (GRCm39) |
M113L |
probably benign |
Het |
Mslnl |
T |
C |
17: 25,965,139 (GRCm39) |
Y502H |
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,952,245 (GRCm39) |
S1372P |
probably damaging |
Het |
Nle1 |
T |
C |
11: 82,795,772 (GRCm39) |
D225G |
probably damaging |
Het |
Or5au1 |
T |
C |
14: 52,273,341 (GRCm39) |
T76A |
possibly damaging |
Het |
P2rx7 |
A |
G |
5: 122,819,066 (GRCm39) |
E496G |
probably damaging |
Het |
Padi4 |
C |
T |
4: 140,473,515 (GRCm39) |
V641M |
probably benign |
Het |
Phf11d |
T |
C |
14: 59,590,160 (GRCm39) |
I221V |
possibly damaging |
Het |
Pla2g2c |
G |
A |
4: 138,458,856 (GRCm39) |
|
probably benign |
Het |
Prdm16 |
A |
T |
4: 154,451,671 (GRCm39) |
D179E |
possibly damaging |
Het |
Psca |
A |
T |
15: 74,588,240 (GRCm39) |
I56F |
probably damaging |
Het |
Ptrhd1 |
A |
G |
12: 4,286,481 (GRCm39) |
Y124C |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,134,271 (GRCm39) |
T82A |
probably damaging |
Het |
Sesn1 |
C |
T |
10: 41,770,984 (GRCm39) |
P172S |
probably benign |
Het |
Setd4 |
T |
C |
16: 93,393,221 (GRCm39) |
T57A |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,434,859 (GRCm39) |
T1037A |
unknown |
Het |
Slc18a3 |
T |
C |
14: 32,185,777 (GRCm39) |
D202G |
probably damaging |
Het |
Slc44a5 |
G |
A |
3: 153,948,760 (GRCm39) |
C176Y |
probably damaging |
Het |
Slc6a5 |
G |
A |
7: 49,579,740 (GRCm39) |
V373M |
probably damaging |
Het |
Sorbs3 |
T |
C |
14: 70,422,483 (GRCm39) |
I523V |
probably benign |
Het |
Sspo |
T |
C |
6: 48,453,428 (GRCm39) |
V2872A |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,529,824 (GRCm39) |
L2027H |
probably damaging |
Het |
Tex2 |
T |
A |
11: 106,458,585 (GRCm39) |
|
probably benign |
Het |
Tfdp1 |
C |
T |
8: 13,419,529 (GRCm39) |
T86M |
possibly damaging |
Het |
Ttc6 |
A |
T |
12: 57,749,061 (GRCm39) |
D1331V |
possibly damaging |
Het |
Vps13b |
A |
G |
15: 35,794,567 (GRCm39) |
T2326A |
possibly damaging |
Het |
Wnk1 |
A |
G |
6: 120,014,149 (GRCm39) |
S149P |
probably benign |
Het |
Zfp521 |
G |
A |
18: 13,980,035 (GRCm39) |
S126F |
probably damaging |
Het |
Zfp958 |
A |
T |
8: 4,678,456 (GRCm39) |
E160D |
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 |
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 |
|
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 |
|
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'- TGGCTGTAATTGACCGAGTGAC -3'
(R):5'- AGATGAGATGCAGTTCTGGC -3'
Sequencing Primer
(F):5'- GACCGAGTGACTTCTTGACAC -3'
(R):5'- AGATGCAGTTCTGGCTTTGGC -3'
|
Posted On |
2016-07-06 |