Incidental Mutation 'R1013:Kyat3'
ID 95843
Institutional Source Beutler Lab
Gene Symbol Kyat3
Ensembl Gene ENSMUSG00000040213
Gene Name kynurenine aminotransferase 3
Synonyms Ccbl2, Kat3, KATIII
MMRRC Submission 039117-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R1013 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 142406780-142450672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142432007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 245 (I245T)
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: I210T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041675
Gene: ENSMUSG00000040213
AA Change: I210T

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 29 411 5.8e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106218
AA Change: I245T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101825
Gene: ENSMUSG00000040213
AA Change: I245T

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 64 446 4.8e-53 PFAM
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 probably benign
Transcript: ENSMUST00000199519
SMART Domains Protein: ENSMUSP00000143531
Gene: ENSMUSG00000040213

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 29 194 7.1e-23 PFAM
Meta Mutation Damage Score 0.9005 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.4%
Validation Efficiency 98% (39/40)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
Bclaf1 T A 10: 20,207,822 (GRCm39) probably benign Het
Bicdl2 A G 17: 23,884,377 (GRCm39) probably benign Het
C8a T C 4: 104,685,236 (GRCm39) I336V probably benign Het
Calcr A T 6: 3,692,621 (GRCm39) V374D probably damaging Het
Col28a1 A G 6: 7,999,452 (GRCm39) probably benign Het
Cuedc1 C T 11: 88,078,853 (GRCm39) A327V possibly damaging Het
Cul2 C A 18: 3,425,535 (GRCm39) Y378* probably null Het
Dnaaf10 A G 11: 17,178,183 (GRCm39) K226E probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gm8369 TG TGNG 19: 11,489,147 (GRCm39) probably null Het
Hivep1 A G 13: 42,310,438 (GRCm39) R893G probably damaging Het
Il10rb A G 16: 91,211,581 (GRCm39) N140D probably benign Het
Itga4 A G 2: 79,150,847 (GRCm39) M818V probably benign Het
Lck C T 4: 129,451,920 (GRCm39) C20Y probably damaging Het
Mcm6 T G 1: 128,276,778 (GRCm39) S271R probably benign Het
Megf10 A G 18: 57,394,291 (GRCm39) I472V probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mrpl11 T C 19: 5,013,651 (GRCm39) I144T possibly damaging Het
Or2t26 G A 11: 49,039,977 (GRCm39) V298M probably damaging Het
Or8k25 G A 2: 86,244,319 (GRCm39) P26S possibly damaging Het
Pcdhb17 A G 18: 37,619,020 (GRCm39) D270G probably damaging Het
Plg G A 17: 12,597,608 (GRCm39) probably benign Het
Ppp3cb T A 14: 20,574,072 (GRCm39) E255D probably benign Het
Psenen A G 7: 30,261,802 (GRCm39) F38S possibly damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Sorl1 T C 9: 41,913,855 (GRCm39) N1358S probably benign Het
Trim3 G A 7: 105,267,102 (GRCm39) P426S probably benign Het
Ttc28 T C 5: 111,424,831 (GRCm39) M1552T probably benign Het
Unc13c T C 9: 73,840,614 (GRCm39) D79G probably benign Het
Zcchc14 A G 8: 122,333,664 (GRCm39) probably benign Het
Zfp354a T C 11: 50,951,677 (GRCm39) probably benign Het
Zfp729a T C 13: 67,767,626 (GRCm39) I868V probably benign Het
Other mutations in Kyat3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCTCTGACTGGACATTCGATCCTC -3'
(R):5'- TCCTGTAAGTGTCGCACAGATGCC -3'

Sequencing Primer
(F):5'- GTAAATTCAGTTCCAAAACGAAAGC -3'
(R):5'- GCCCATCACAGAGACTATTTTAAAGC -3'
Posted On 2014-01-05