Incidental Mutation 'R2483:Kyat1'
ID 250627
Institutional Source Beutler Lab
Gene Symbol Kyat1
Ensembl Gene ENSMUSG00000039648
Gene Name kynurenine aminotransferase 1
Synonyms Ccbl1, 2010009K05Rik, KATI, Kat1, cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)
MMRRC Submission 040407-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.673) question?
Stock # R2483 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 30075136-30095859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30076710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 218 (H218R)
Ref Sequence ENSEMBL: ENSMUSP00000109289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044038] [ENSMUST00000113659] [ENSMUST00000113660] [ENSMUST00000113661] [ENSMUST00000113662] [ENSMUST00000113663]
AlphaFold Q8BTY1
Predicted Effect possibly damaging
Transcript: ENSMUST00000044038
AA Change: H268R

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038612
Gene: ENSMUSG00000039648
AA Change: H268R

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 415 1.1e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113659
AA Change: H218R

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109289
Gene: ENSMUSG00000039648
AA Change: H218R

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 53 365 1.5e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113660
AA Change: H225R

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109290
Gene: ENSMUSG00000039648
AA Change: H225R

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 145 1.7e-12 PFAM
Pfam:Aminotran_1_2 146 372 1e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113661
AA Change: H268R

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109291
Gene: ENSMUSG00000039648
AA Change: H268R

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 415 1.1e-56 PFAM
Pfam:DegT_DnrJ_EryC1 80 214 3.7e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113662
AA Change: H268R

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109292
Gene: ENSMUSG00000039648
AA Change: H268R

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 415 1.1e-56 PFAM
Pfam:DegT_DnrJ_EryC1 80 214 3.7e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113663
AA Change: H268R

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109293
Gene: ENSMUSG00000039648
AA Change: H268R

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,080,348 (GRCm39) T364A probably benign Het
Adpgk G A 9: 59,221,036 (GRCm39) V281I probably benign Het
Akap9 C A 5: 4,026,235 (GRCm39) Q1297K possibly damaging Het
Ankrd13d T C 19: 4,331,968 (GRCm39) E110G probably damaging Het
Ankrd53 A G 6: 83,740,244 (GRCm39) E104G possibly damaging Het
Ano6 A T 15: 95,863,855 (GRCm39) T792S probably benign Het
Atm A T 9: 53,421,566 (GRCm39) V715D probably damaging Het
Avl9 A G 6: 56,713,828 (GRCm39) D362G probably benign Het
Bin1 T A 18: 32,547,280 (GRCm39) S152R probably damaging Het
Bscl2 T A 19: 8,818,514 (GRCm39) C40S probably benign Het
Btaf1 A G 19: 36,958,486 (GRCm39) T668A probably benign Het
Btrc A G 19: 45,504,497 (GRCm39) D397G probably damaging Het
Cables2 A T 2: 179,902,222 (GRCm39) V379E probably damaging Het
Cacna2d2 T C 9: 107,389,221 (GRCm39) L228P probably damaging Het
Cd109 A T 9: 78,574,639 (GRCm39) D541V probably damaging Het
Cdh26 A T 2: 178,108,382 (GRCm39) S327C probably damaging Het
Cep78 T C 19: 15,938,344 (GRCm39) K535E probably damaging Het
Ces1a A G 8: 93,753,969 (GRCm39) Y345H probably damaging Het
Col6a5 C A 9: 105,741,347 (GRCm39) R2524I probably damaging Het
Cracd A T 5: 77,004,256 (GRCm39) I206F probably damaging Het
Dctn1 G A 6: 83,171,169 (GRCm39) R661H probably damaging Het
Ddias T C 7: 92,508,800 (GRCm39) T372A probably benign Het
Dffb T C 4: 154,049,976 (GRCm39) T296A probably damaging Het
Dock8 A G 19: 25,057,241 (GRCm39) Q216R probably benign Het
Emx1 T C 6: 85,165,237 (GRCm39) S105P probably benign Het
Ep400 T C 5: 110,867,102 (GRCm39) Y1014C unknown Het
Fam193a A T 5: 34,623,102 (GRCm39) K1230M possibly damaging Het
Fgf9 A G 14: 58,347,028 (GRCm39) Q207R probably benign Het
Gm5460 G A 14: 33,767,775 (GRCm39) C461Y possibly damaging Het
Gpc1 T C 1: 92,783,660 (GRCm39) I249T probably benign Het
Htr1d T C 4: 136,170,815 (GRCm39) I348T probably damaging Het
Hyal4 A T 6: 24,765,737 (GRCm39) S364C probably damaging Het
Igfn1 T C 1: 135,897,275 (GRCm39) E1097G probably benign Het
Igkv1-133 A T 6: 67,701,944 (GRCm39) Q16L probably benign Het
Kcnh5 A T 12: 75,161,245 (GRCm39) I221N probably damaging Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Lamb2 T G 9: 108,357,758 (GRCm39) C94G probably damaging Het
Met A T 6: 17,549,085 (GRCm39) D979V probably damaging Het
Midn A G 10: 79,986,144 (GRCm39) D78G probably benign Het
Myh1 A T 11: 67,102,052 (GRCm39) M811L probably benign Het
Myh7 T C 14: 55,210,838 (GRCm39) E1693G probably damaging Het
Myo15b A G 11: 115,755,565 (GRCm39) T979A probably benign Het
Myo18b A T 5: 113,006,274 (GRCm39) C879S probably damaging Het
Myom1 A G 17: 71,384,807 (GRCm39) T733A probably damaging Het
Ndufa9 A T 6: 126,821,362 (GRCm39) M76K possibly damaging Het
Nectin3 A G 16: 46,215,542 (GRCm39) C74R possibly damaging Het
Obscn A G 11: 58,970,972 (GRCm39) F2514L probably damaging Het
Or4a69 G A 2: 89,313,471 (GRCm39) Q3* probably null Het
Or52d3 T C 7: 104,229,149 (GRCm39) S99P probably damaging Het
Or5p81 CAAATA CA 7: 108,266,869 (GRCm39) probably null Het
P2ry2 A T 7: 100,647,706 (GRCm39) S200T probably benign Het
Pcdha5 G T 18: 37,094,542 (GRCm39) M350I probably benign Het
Pcdha5 G A 18: 37,094,834 (GRCm39) V448M probably damaging Het
Pex12 C T 11: 83,188,455 (GRCm39) R180H possibly damaging Het
Pip4p1 C G 14: 51,167,749 (GRCm39) V59L probably damaging Het
Pkd1l1 A T 11: 8,912,701 (GRCm39) V168E probably damaging Het
Prokr2 T A 2: 132,223,095 (GRCm39) D149V probably damaging Het
Rnf123 A G 9: 107,940,720 (GRCm39) V707A probably benign Het
Ryr2 T C 13: 11,774,589 (GRCm39) E1189G probably damaging Het
Scarf1 T C 11: 75,406,117 (GRCm39) F134L probably damaging Het
Sfxn5 A G 6: 85,309,260 (GRCm39) probably null Het
Shfl A T 9: 20,784,473 (GRCm39) I186F possibly damaging Het
Skic3 A G 13: 76,330,986 (GRCm39) E1472G probably damaging Het
Slc17a5 A T 9: 78,445,556 (GRCm39) V433D probably damaging Het
Snapc1 A G 12: 74,011,417 (GRCm39) T28A probably benign Het
Soat1 T C 1: 156,258,669 (GRCm39) Y528C probably damaging Het
Spem1 G A 11: 69,712,344 (GRCm39) R107C possibly damaging Het
Srcap T C 7: 127,141,319 (GRCm39) S1639P probably damaging Het
Sycp2 A T 2: 178,016,388 (GRCm39) N691K probably damaging Het
Syne2 A T 12: 76,142,311 (GRCm39) I6183F probably damaging Het
Tas2r110 A T 6: 132,845,433 (GRCm39) M155L probably benign Het
Tenm3 G A 8: 48,693,305 (GRCm39) T1859I probably damaging Het
Thsd7b T A 1: 130,030,809 (GRCm39) V1048D probably damaging Het
Vav3 T C 3: 109,248,482 (GRCm39) L43P probably damaging Het
Vmn1r30 A T 6: 58,412,437 (GRCm39) F132I probably benign Het
Vmn2r24 A G 6: 123,792,997 (GRCm39) R775G probably damaging Het
Vps13c T A 9: 67,883,189 (GRCm39) probably null Het
Vps37c T A 19: 10,683,569 (GRCm39) probably null Het
Wwp2 A G 8: 108,275,167 (GRCm39) D388G probably damaging Het
Xirp2 A T 2: 67,355,336 (GRCm39) T3366S probably benign Het
Zbtb49 A C 5: 38,360,701 (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
IGL02975:Kyat1 APN 2 30,076,687 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TTGTCCAAAGTGTTGCTGCTC -3'
(R):5'- ATGTGGGAACGGACACTGAC -3'

Sequencing Primer
(F):5'- GTTGCTGCTCCCGCTCAAAG -3'
(R):5'- GGAACGGACACTGACCATCG -3'
Posted On 2014-12-04