Incidental Mutation 'R3792:Kyat3'
ID 272578
Institutional Source Beutler Lab
Gene Symbol Kyat3
Ensembl Gene ENSMUSG00000040213
Gene Name kynurenine aminotransferase 3
Synonyms Ccbl2, Kat3, KATIII
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R3792 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 142406780-142450672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142443605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 406 (K406M)
Ref Sequence ENSEMBL: ENSMUSP00000101825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044392] [ENSMUST00000106218] [ENSMUST00000129775]
AlphaFold Q71RI9
Predicted Effect probably null
Transcript: ENSMUST00000044392
AA Change: K371M

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041675
Gene: ENSMUSG00000040213
AA Change: K371M

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 29 411 5.8e-54 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106218
AA Change: K406M

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101825
Gene: ENSMUSG00000040213
AA Change: K406M

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A G X: 80,464,423 (GRCm39) V428A probably benign Het
Aanat T C 11: 116,487,057 (GRCm39) L88P probably damaging Het
Arhgap5 A T 12: 52,566,671 (GRCm39) N1214I probably benign Het
BC034090 A T 1: 155,117,543 (GRCm39) S192T probably damaging Het
Bco1 G A 8: 117,857,415 (GRCm39) V461I possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cripto C T 9: 110,772,258 (GRCm39) R46Q probably benign Het
Cubn G A 2: 13,432,725 (GRCm39) R1199C probably damaging Het
Dcaf12l1 T C X: 43,877,313 (GRCm39) N495S possibly damaging Het
Dop1b C A 16: 93,568,734 (GRCm39) Q1599K possibly damaging Het
Dyrk1a C A 16: 94,485,933 (GRCm39) L427I probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
F8 A T X: 74,328,971 (GRCm39) probably null Het
Fam135a T C 1: 24,067,392 (GRCm39) Y259C probably benign Het
Fbxo38 T C 18: 62,666,533 (GRCm39) probably null Het
Fbxo43 T C 15: 36,163,005 (GRCm39) I67M probably benign Het
Gcfc2 G T 6: 81,907,748 (GRCm39) C154F probably benign Het
Hipk2 C T 6: 38,675,491 (GRCm39) R1029H probably damaging Het
Ilk G A 7: 105,391,294 (GRCm39) W73* probably null Het
Ism1 T C 2: 139,582,173 (GRCm39) S162P probably damaging Het
Itpkb T A 1: 180,160,738 (GRCm39) L288Q possibly damaging Het
Itpr2 C A 6: 146,316,852 (GRCm39) K306N probably damaging Het
Kdm2a C T 19: 4,374,540 (GRCm39) E864K possibly damaging Het
Kdm4b G A 17: 56,662,944 (GRCm39) V172M probably damaging Het
Lipe T A 7: 25,097,045 (GRCm39) K299N possibly damaging Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Mptx2 T A 1: 173,102,240 (GRCm39) I150F probably damaging Het
Mroh2b G T 15: 4,953,102 (GRCm39) W612L probably damaging Het
Mucl2 T C 15: 103,928,692 (GRCm39) T27A possibly damaging Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Oprm1 T C 10: 6,789,544 (GRCm39) S390P probably benign Het
Or2m12 A G 16: 19,104,696 (GRCm39) S266P possibly damaging Het
Or51v8 A T 7: 103,319,353 (GRCm39) I295N probably damaging Het
Pcdhb14 T C 18: 37,582,715 (GRCm39) L607P probably damaging Het
Rap1gds1 A T 3: 138,671,721 (GRCm39) I133N probably damaging Het
Rasl10a T C 11: 5,009,461 (GRCm39) L83S probably damaging Het
Satb2 C T 1: 56,884,779 (GRCm39) V382M probably damaging Het
Sh3gl1 T C 17: 56,325,949 (GRCm39) K160R probably damaging Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spef2 A G 15: 9,704,622 (GRCm39) I454T probably damaging Het
Stag3 A G 5: 138,296,611 (GRCm39) K490E probably benign Het
Tcstv7b G T 13: 120,702,467 (GRCm39) V88F probably damaging Het
Tctn3 T C 19: 40,600,155 (GRCm39) K95R probably benign Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Ttc21a A T 9: 119,783,231 (GRCm39) E511V probably damaging Het
Ttn A G 2: 76,542,232 (GRCm39) F25258L probably damaging Het
Ttn A C 2: 76,639,290 (GRCm39) C13828G probably damaging Het
Vmn1r210 T A 13: 23,011,573 (GRCm39) M238L probably damaging Het
Vmn1r38 A G 6: 66,753,891 (GRCm39) I75T probably benign Het
Vmn2r84 T A 10: 130,221,669 (GRCm39) *850C probably null Het
Vwa7 T C 17: 35,244,135 (GRCm39) probably null Het
Zfp128 T A 7: 12,618,659 (GRCm39) D52E probably damaging Het
Zfp618 T C 4: 63,033,728 (GRCm39) probably benign Het
Zkscan2 T A 7: 123,084,225 (GRCm39) E633V possibly damaging 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
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
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'- CCAGCAGGGTGTATGAATAACC -3'
(R):5'- CTAGGTGGACTCTTTGTATGAAAGG -3'

Sequencing Primer
(F):5'- CAGCAGGGTGTATGAATAACCTCTAG -3'
(R):5'- GCTAGCCTGGTCTATATAGCAAG -3'
Posted On 2015-03-25