Incidental Mutation 'R1236:Kyat3'
ID 152424
Institutional Source Beutler Lab
Gene Symbol Kyat3
Ensembl Gene ENSMUSG00000040213
Gene Name kynurenine aminotransferase 3
Synonyms Kat3, KATIII, Ccbl2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R1236 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 142701051-142746870 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142738259 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 418 (D418G)
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: D383G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041675
Gene: ENSMUSG00000040213
AA Change: D383G

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 29 411 5.8e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106218
AA Change: D418G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101825
Gene: ENSMUSG00000040213
AA Change: D418G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:3E2Z|B 7 69 3e-37 PDB
SCOP:d1gdea_ 8 70 1e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198957
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T C 2: 30,795,744 Y360C probably damaging Het
Afap1l2 T A 19: 56,916,472 H566L possibly damaging Het
Aqr G T 2: 114,116,655 F1015L probably damaging Het
Atp5s T C 12: 69,741,818 probably null Het
Cep112 T A 11: 108,859,374 L901H probably damaging Het
Col26a1 A G 5: 136,754,926 V229A probably benign Het
Cyp4a14 T C 4: 115,492,170 N231S probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,577,224 probably null Het
Gm37240 T A 3: 84,527,696 N13I probably benign Het
Kbtbd7 G T 14: 79,427,832 C368F probably benign Het
Lpcat2 A G 8: 92,886,569 M246V probably damaging Het
Nbas T A 12: 13,269,241 W31R probably damaging Het
Nckap1 C T 2: 80,517,942 S889N probably benign Het
Npepl1 T A 2: 174,114,480 probably null Het
Olfr805 A G 10: 129,722,806 V246A probably damaging Het
Olfr906 T C 9: 38,488,229 S67P probably damaging Het
P4ha3 T C 7: 100,293,849 L147P probably damaging Het
Pkp2 C A 16: 16,225,902 H173Q probably benign Het
Prlr C A 15: 10,325,281 T180K probably benign Het
Psph A G 5: 129,771,476 M47T probably damaging Het
Rufy2 A G 10: 62,994,770 N217S probably benign Het
Sgcg T C 14: 61,245,770 M61V probably damaging Het
Snrnp40 C G 4: 130,378,043 probably null Het
Spint1 A G 2: 119,245,573 T217A probably benign Het
Tert T C 13: 73,636,379 L648P probably damaging Het
Vwde A T 6: 13,187,153 Y778* probably null Het
Zeb2 T A 2: 44,994,646 D967V probably damaging Het
Zfp687 T C 3: 95,012,044 N139S probably benign Het
Zscan26 T C 13: 21,445,770 M188V probably benign Het
Other mutations in Kyat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Kyat3 APN 3 142734474 missense probably benign 0.25
IGL00228:Kyat3 APN 3 142726257 missense probably damaging 1.00
IGL02065:Kyat3 APN 3 142720375 missense probably benign 0.07
IGL02529:Kyat3 APN 3 142720474 missense probably benign
IGL02665:Kyat3 APN 3 142734466 splice site probably null
IGL03399:Kyat3 APN 3 142726010 missense probably damaging 0.99
R1013:Kyat3 UTSW 3 142726246 missense probably damaging 0.97
R1180:Kyat3 UTSW 3 142737770 critical splice acceptor site probably null
R1181:Kyat3 UTSW 3 142737770 critical splice acceptor site probably null
R1826:Kyat3 UTSW 3 142723179 missense possibly damaging 0.86
R3792:Kyat3 UTSW 3 142737844 missense probably null 0.29
R4165:Kyat3 UTSW 3 142726305 splice site probably null
R4332:Kyat3 UTSW 3 142725426 missense probably damaging 1.00
R4353:Kyat3 UTSW 3 142731293 critical splice donor site probably null
R5257:Kyat3 UTSW 3 142734576 missense probably benign 0.07
R5396:Kyat3 UTSW 3 142734606 missense probably benign 0.03
R5687:Kyat3 UTSW 3 142734582 missense probably null 0.00
R5933:Kyat3 UTSW 3 142723260 missense probably damaging 1.00
R6374:Kyat3 UTSW 3 142738237 missense probably damaging 1.00
R6537:Kyat3 UTSW 3 142729812 missense probably benign 0.12
R6938:Kyat3 UTSW 3 142725422 missense probably damaging 1.00
R7092:Kyat3 UTSW 3 142729795 missense probably damaging 1.00
R7176:Kyat3 UTSW 3 142737839 missense possibly damaging 0.73
R7203:Kyat3 UTSW 3 142720401 missense probably damaging 0.97
R7252:Kyat3 UTSW 3 142720458 missense probably benign 0.05
R7487:Kyat3 UTSW 3 142726194 nonsense probably null
R7522:Kyat3 UTSW 3 142734544 missense probably damaging 1.00
R7729:Kyat3 UTSW 3 142726305 splice site probably null
R8978:Kyat3 UTSW 3 142737835 missense probably benign 0.11
R9773:Kyat3 UTSW 3 142726059 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGACACTGAACTCCACCCTTGTCTC -3'
(R):5'- CCATCAATTTCATGGCAGCAAGTCAAT -3'

Sequencing Primer
(F):5'- gacagtctcactctgtagcc -3'
(R):5'- ttgttgttgttgttgttgttttttg -3'
Posted On 2014-01-29