Incidental Mutation 'IGL02975:Kyat1'
ID 406344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kyat1
Ensembl Gene ENSMUSG00000039648
Gene Name kynurenine aminotransferase 1
Synonyms Ccbl1, 2010009K05Rik, KATI, Kat1, cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)
Accession Numbers
Essential gene? Possibly essential (E-score: 0.673) question?
Stock # IGL02975
Quality Score
Status
Chromosome 2
Chromosomal Location 30075136-30095859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30076687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 276 (S276P)
Ref Sequence ENSEMBL: ENSMUSP00000109293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044038] [ENSMUST00000113659] [ENSMUST00000113660] [ENSMUST00000113661] [ENSMUST00000113662] [ENSMUST00000113663]
AlphaFold Q8BTY1
Predicted Effect probably damaging
Transcript: ENSMUST00000044038
AA Change: S276P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038612
Gene: ENSMUSG00000039648
AA Change: S276P

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 415 1.1e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113659
AA Change: S226P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109289
Gene: ENSMUSG00000039648
AA Change: S226P

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 53 365 1.5e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113660
AA Change: S233P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109290
Gene: ENSMUSG00000039648
AA Change: S233P

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 145 1.7e-12 PFAM
Pfam:Aminotran_1_2 146 372 1e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113661
AA Change: S276P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109291
Gene: ENSMUSG00000039648
AA Change: S276P

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 415 1.1e-56 PFAM
Pfam:DegT_DnrJ_EryC1 80 214 3.7e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113662
AA Change: S276P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109292
Gene: ENSMUSG00000039648
AA Change: S276P

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 415 1.1e-56 PFAM
Pfam:DegT_DnrJ_EryC1 80 214 3.7e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113663
AA Change: S276P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109293
Gene: ENSMUSG00000039648
AA Change: S276P

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 415 1.1e-56 PFAM
Pfam:DegT_DnrJ_EryC1 80 214 3.7e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149522
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 a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,381,784 (GRCm39) D326G possibly damaging Het
Abtb3 A G 10: 85,467,207 (GRCm39) I721V probably benign Het
Ago4 C T 4: 126,406,312 (GRCm39) probably null Het
Ank A G 15: 27,467,087 (GRCm39) probably benign Het
Ankmy2 C A 12: 36,243,773 (GRCm39) S329R possibly damaging Het
Aox1 A G 1: 58,107,550 (GRCm39) E608G probably damaging Het
Car1 G A 3: 14,842,882 (GRCm39) L48F probably benign Het
Cct8 A G 16: 87,283,118 (GRCm39) probably benign Het
Clasp1 A T 1: 118,390,277 (GRCm39) T154S probably damaging Het
Clca4a A C 3: 144,669,530 (GRCm39) I340M possibly damaging Het
Cnksr3 C T 10: 7,088,354 (GRCm39) probably null Het
Cntrob T C 11: 69,210,199 (GRCm39) T265A possibly damaging Het
Ddx5 T C 11: 106,672,711 (GRCm39) I605V probably benign Het
Eif3i A G 4: 129,489,105 (GRCm39) Y70H probably damaging Het
Epb41l5 T C 1: 119,506,811 (GRCm39) probably benign Het
Fah A T 7: 84,250,287 (GRCm39) S90T probably benign Het
Fat2 T A 11: 55,161,020 (GRCm39) M3237L probably benign Het
Fbxw8 A G 5: 118,215,760 (GRCm39) Y417H probably benign Het
Fmnl2 C A 2: 52,991,494 (GRCm39) F336L probably benign Het
Gli3 A G 13: 15,899,153 (GRCm39) R847G probably damaging Het
Gm17509 T C 13: 117,357,308 (GRCm39) probably benign Het
Gm4846 T A 1: 166,311,449 (GRCm39) Y470F possibly damaging Het
Gm7461 T C 8: 4,727,847 (GRCm39) noncoding transcript Het
Gpatch4 A T 3: 87,961,743 (GRCm39) N134I possibly damaging Het
Grina A G 15: 76,133,185 (GRCm39) Y251C probably damaging Het
Gsn A G 2: 35,194,666 (GRCm39) D654G probably benign Het
Hyal5 A G 6: 24,891,451 (GRCm39) T422A probably benign Het
Iars1 T A 13: 49,858,325 (GRCm39) I377N probably damaging Het
Ints3 A T 3: 90,309,144 (GRCm39) probably benign Het
Kdm4b G A 17: 56,682,996 (GRCm39) probably null Het
Lrrc1 A G 9: 77,359,929 (GRCm39) C288R probably damaging Het
Mst1r T A 9: 107,790,379 (GRCm39) M664K probably benign Het
Neb A T 2: 52,188,879 (GRCm39) I817N probably damaging Het
Nudt6 C A 3: 37,473,667 (GRCm39) G18V probably damaging Het
Or10a49 G A 7: 108,468,062 (GRCm39) Q100* probably null Het
Or4k52 T A 2: 111,611,266 (GRCm39) Y200* probably null Het
Or7a41 T C 10: 78,870,867 (GRCm39) V79A possibly damaging Het
Pde1c A G 6: 56,135,921 (GRCm39) I341T probably damaging Het
Pgm5 T C 19: 24,812,212 (GRCm39) I107V probably benign Het
Pot1b G A 17: 55,969,454 (GRCm39) probably benign Het
Prkca C T 11: 108,231,503 (GRCm39) W58* probably null Het
Slc12a9 T C 5: 137,320,705 (GRCm39) K555R probably damaging Het
Smoc2 A T 17: 14,556,872 (GRCm39) Q107L probably damaging Het
Sytl1 T A 4: 132,988,343 (GRCm39) R4S probably benign Het
Tbc1d4 A G 14: 101,695,549 (GRCm39) L963P probably damaging Het
Tfdp2 G A 9: 96,199,989 (GRCm39) probably benign Het
Tmem63a A T 1: 180,788,640 (GRCm39) M326L probably benign Het
Vmn2r66 A G 7: 84,656,182 (GRCm39) L278P probably damaging Het
Wtap A G 17: 13,202,398 (GRCm39) V11A possibly damaging Het
Zcchc9 A T 13: 91,954,172 (GRCm39) S28T possibly damaging Het
Zfp12 C T 5: 143,229,814 (GRCm39) probably benign Het
Other mutations in Kyat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02059:Kyat1 APN 2 30,075,565 (GRCm39) missense probably benign 0.00
IGL02216:Kyat1 APN 2 30,077,264 (GRCm39) missense probably benign 0.44
IGL02864:Kyat1 APN 2 30,082,089 (GRCm39) splice site probably benign
R0193:Kyat1 UTSW 2 30,077,198 (GRCm39) critical splice donor site probably null
R0230:Kyat1 UTSW 2 30,084,087 (GRCm39) missense probably benign
R0539:Kyat1 UTSW 2 30,078,229 (GRCm39) missense probably damaging 1.00
R2483:Kyat1 UTSW 2 30,076,710 (GRCm39) missense possibly damaging 0.71
R3935:Kyat1 UTSW 2 30,075,761 (GRCm39) missense probably damaging 1.00
R4651:Kyat1 UTSW 2 30,084,076 (GRCm39) missense probably benign 0.00
R4685:Kyat1 UTSW 2 30,078,277 (GRCm39) missense probably damaging 1.00
R5031:Kyat1 UTSW 2 30,078,102 (GRCm39) missense probably damaging 1.00
R5699:Kyat1 UTSW 2 30,076,662 (GRCm39) missense probably benign 0.01
R5722:Kyat1 UTSW 2 30,078,123 (GRCm39) missense probably damaging 1.00
R7299:Kyat1 UTSW 2 30,082,007 (GRCm39) missense probably benign 0.02
R8000:Kyat1 UTSW 2 30,082,065 (GRCm39) missense probably benign
R8231:Kyat1 UTSW 2 30,081,978 (GRCm39) missense probably benign 0.00
R8687:Kyat1 UTSW 2 30,075,759 (GRCm39) missense probably benign 0.20
Z1176:Kyat1 UTSW 2 30,077,744 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02