Incidental Mutation 'IGL00162:Kyat3'
ID1749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kyat3
Ensembl Gene ENSMUSG00000040213
Gene Namekynurenine aminotransferase 3
SynonymsKat3, KATIII, Ccbl2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #IGL00162
Quality Score
Status
Chromosome3
Chromosomal Location142701051-142746870 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 142734474 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 320 (A320T)
Ref Sequence ENSEMBL: ENSMUSP00000101825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044392] [ENSMUST00000106218] [ENSMUST00000129775]
Predicted Effect probably benign
Transcript: ENSMUST00000044392
AA Change: A285T

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041675
Gene: ENSMUSG00000040213
AA Change: A285T

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 29 411 5.8e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106218
AA Change: A320T

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101825
Gene: ENSMUSG00000040213
AA Change: A320T

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: ENSMUST00000137623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198957
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C330021F23Rik A G 8: 3,583,904 T2A probably benign Het
Cc2d1b T G 4: 108,627,378 L470R probably damaging Het
Cd96 A T 16: 46,071,799 N275K possibly damaging Het
Col22a1 A G 15: 71,860,958 probably null Het
Cyb561 T C 11: 105,935,836 H197R probably damaging Het
Dlgap1 T C 17: 70,516,085 S22P probably benign Het
Dnajc6 A G 4: 101,508,089 probably benign Het
Fgf6 A T 6: 127,024,085 K185N possibly damaging Het
Fshr T C 17: 88,986,191 N353S probably damaging Het
Gabbr1 T A 17: 37,048,443 Y103* probably null Het
Gm7247 G A 14: 51,523,505 C177Y possibly damaging Het
Hikeshi A G 7: 89,935,781 F72L probably damaging Het
Ikzf4 T C 10: 128,634,547 E368G probably benign Het
Kdm3b A G 18: 34,809,409 E851G probably benign Het
Kif3b A G 2: 153,317,131 D284G probably damaging Het
Mok C T 12: 110,808,197 probably benign Het
Mrgpra3 A G 7: 47,589,519 F220L probably benign Het
Nr4a1 T C 15: 101,270,899 V272A probably damaging Het
Olfr1124 A G 2: 87,435,063 H192R probably benign Het
Olfr703 A G 7: 106,845,367 Y252C possibly damaging Het
Pikfyve T A 1: 65,260,121 probably null Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Ptpn12 T C 5: 21,029,850 E45G probably damaging Het
Ralgps1 A T 2: 33,137,682 *516R probably null Het
Senp6 A G 9: 80,116,610 D385G probably damaging Het
Siglech T C 7: 55,772,591 probably benign Het
Slit1 A G 19: 41,650,835 L212P probably damaging Het
Smchd1 T A 17: 71,465,673 probably benign Het
Snapc4 A T 2: 26,369,312 C609S probably benign Het
Strn3 T C 12: 51,661,196 T139A possibly damaging Het
Tcaf3 T C 6: 42,593,385 T478A probably benign Het
Tlr3 A G 8: 45,400,690 S198P probably damaging Het
Ttn C T 2: 76,890,479 probably benign Het
Vil1 G A 1: 74,423,875 E406K probably damaging Het
Zfp462 A G 4: 55,011,483 probably null Het
Zfyve9 A G 4: 108,642,107 V1338A possibly damaging Het
Other mutations in Kyat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1236:Kyat3 UTSW 3 142738259 missense probably benign
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
Posted On2011-07-12