Incidental Mutation 'IGL02065:Kyat3'
ID 185613
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02065
Quality Score
Status
Chromosome 3
Chromosomal Location 142406780-142450672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142426136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 24 (K24R)
Ref Sequence ENSEMBL: ENSMUSP00000143531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044392] [ENSMUST00000106218] [ENSMUST00000129775] [ENSMUST00000199519]
AlphaFold Q71RI9
Predicted Effect probably benign
Transcript: ENSMUST00000044392
AA Change: K24R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041675
Gene: ENSMUSG00000040213
AA Change: K24R

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 29 411 5.8e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106218
AA Change: K59R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101825
Gene: ENSMUSG00000040213
AA Change: K59R

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 64 446 4.8e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129775
AA Change: K24R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000121687
Gene: ENSMUSG00000040213
AA Change: K24R

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 probably benign
Transcript: ENSMUST00000199519
AA Change: K24R

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143531
Gene: ENSMUSG00000040213
AA Change: K24R

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 29 194 7.1e-23 PFAM
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,623,827 (GRCm39) E770K possibly damaging Het
Abhd17a C A 10: 80,422,395 (GRCm39) A22S probably benign Het
Actbl2 A G 13: 111,392,225 (GRCm39) T187A probably benign Het
Adgrl3 G A 5: 81,660,064 (GRCm39) G278R probably damaging Het
Apoh C A 11: 108,305,131 (GRCm39) probably benign Het
Atp2b2 A G 6: 113,790,828 (GRCm39) F192S probably damaging Het
Bdh1 T C 16: 31,268,754 (GRCm39) I163T possibly damaging Het
Bmp1 G T 14: 70,723,660 (GRCm39) N725K probably damaging Het
Bmp1 T A 14: 70,727,547 (GRCm39) I679F probably damaging Het
Bmp2 T A 2: 133,402,844 (GRCm39) F132I probably benign Het
Bpifb5 T C 2: 154,069,103 (GRCm39) L140P probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Carmil3 T C 14: 55,731,279 (GRCm39) probably benign Het
Ccdc57 T C 11: 120,764,586 (GRCm39) T730A possibly damaging Het
Cdh10 G T 15: 19,013,342 (GRCm39) K647N probably damaging Het
Cdh17 A C 4: 11,771,373 (GRCm39) probably benign Het
Cep126 A G 9: 8,099,925 (GRCm39) S870P probably benign Het
Col6a4 T C 9: 105,954,302 (GRCm39) T346A probably damaging Het
Csmd3 A C 15: 47,530,024 (GRCm39) V2592G probably damaging Het
Dnajc16 A T 4: 141,504,244 (GRCm39) F239I probably damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
F5 G A 1: 164,017,695 (GRCm39) V591M probably damaging Het
Fchsd2 T G 7: 100,826,429 (GRCm39) probably null Het
Flad1 A T 3: 89,316,294 (GRCm39) D89E probably damaging Het
Fsd1 C A 17: 56,303,499 (GRCm39) P457Q probably damaging Het
Gm21985 A G 2: 112,187,929 (GRCm39) D1012G possibly damaging Het
Gon4l A G 3: 88,764,517 (GRCm39) D366G probably null Het
Hadha A G 5: 30,347,843 (GRCm39) probably benign Het
Kdr A G 5: 76,122,513 (GRCm39) probably benign Het
Map3k21 A G 8: 126,668,397 (GRCm39) D661G probably benign Het
Mical1 A T 10: 41,360,407 (GRCm39) K615N possibly damaging Het
Ncor1 T C 11: 62,310,435 (GRCm39) K204E possibly damaging Het
Nmral1 T A 16: 4,534,346 (GRCm39) I32F probably benign Het
Nrros T C 16: 31,963,492 (GRCm39) D175G possibly damaging Het
Or10ak8 G A 4: 118,773,968 (GRCm39) T232I probably benign Het
Or12j5 T C 7: 140,084,077 (GRCm39) I98M probably benign Het
Ryr2 A G 13: 11,587,143 (GRCm39) F4713L possibly damaging Het
Serpinb1b G A 13: 33,275,301 (GRCm39) G142D possibly damaging Het
Slc10a1 A G 12: 81,007,248 (GRCm39) S178P possibly damaging Het
Spint1 G A 2: 119,068,698 (GRCm39) R144H probably benign Het
Sult6b1 C T 17: 79,196,504 (GRCm39) G213R probably damaging Het
Themis3 G T 17: 66,862,900 (GRCm39) H353N probably benign Het
Tpr T C 1: 150,289,525 (GRCm39) S619P probably benign Het
Ttn A T 2: 76,645,134 (GRCm39) V11161E probably damaging Het
Usp13 G A 3: 32,987,314 (GRCm39) V837I probably damaging Het
Usp25 T C 16: 76,880,670 (GRCm39) V677A probably benign Het
Wdr62 A G 7: 29,942,894 (GRCm39) V1001A possibly damaging Het
Whrn A T 4: 63,336,822 (GRCm39) I580N possibly damaging Het
Wls T A 3: 159,616,993 (GRCm39) V344D probably damaging Het
Zan A T 5: 137,385,222 (GRCm39) Y5070* probably null 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
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
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
Posted On 2014-05-07