Incidental Mutation 'R5699:Kyat1'
ID 446544
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 043327-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.658) question?
Stock # R5699 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 30075136-30095859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30076662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 284 (A284V)
Ref Sequence ENSEMBL: ENSMUSP00000109293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044038] [ENSMUST00000113659] [ENSMUST00000113660] [ENSMUST00000113661] [ENSMUST00000113662] [ENSMUST00000113663]
AlphaFold Q8BTY1
Predicted Effect probably benign
Transcript: ENSMUST00000044038
AA Change: A284V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000038612
Gene: ENSMUSG00000039648
AA Change: A284V

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 415 1.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113659
AA Change: A234V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000109289
Gene: ENSMUSG00000039648
AA Change: A234V

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 53 365 1.5e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113660
AA Change: A241V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109290
Gene: ENSMUSG00000039648
AA Change: A241V

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 28 145 1.7e-12 PFAM
Pfam:Aminotran_1_2 146 372 1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113661
AA Change: A284V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000109291
Gene: ENSMUSG00000039648
AA Change: A284V

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 benign
Transcript: ENSMUST00000113662
AA Change: A284V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000109292
Gene: ENSMUSG00000039648
AA Change: A284V

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 benign
Transcript: ENSMUST00000113663
AA Change: A284V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000109293
Gene: ENSMUSG00000039648
AA Change: A284V

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik A G 9: 8,225,320 (GRCm39) noncoding transcript Het
4930486L24Rik A G 13: 61,001,410 (GRCm39) F106L possibly damaging Het
Adam11 A T 11: 102,664,466 (GRCm39) M385L probably benign Het
Adgre1 C T 17: 57,788,007 (GRCm39) P925S probably benign Het
Adh7 G A 3: 137,932,087 (GRCm39) A234T probably benign Het
Ano2 A G 6: 125,849,703 (GRCm39) E475G probably damaging Het
C2cd4c A G 10: 79,448,385 (GRCm39) V254A probably benign Het
Car13 A G 3: 14,715,749 (GRCm39) Y89C probably damaging Het
Cd38 A G 5: 44,057,728 (GRCm39) K100R probably damaging Het
Cdh11 A G 8: 103,361,175 (GRCm39) I721T probably damaging Het
Cdh2 G A 18: 16,779,579 (GRCm39) Q161* probably null Het
Clk1 T C 1: 58,459,354 (GRCm39) K135R probably damaging Het
Col5a1 G A 2: 27,887,611 (GRCm39) G961R unknown Het
Cpt1b T A 15: 89,308,476 (GRCm39) I151F probably benign Het
Cyp51 A G 5: 4,151,213 (GRCm39) F139L probably damaging Het
Disp1 TTGA T 1: 182,870,119 (GRCm39) probably null Het
Dnah8 T C 17: 31,029,298 (GRCm39) I4089T probably benign Het
Dnali1 C T 4: 124,952,843 (GRCm39) V227M possibly damaging Het
Eml4 T G 17: 83,717,514 (GRCm39) S29A probably benign Het
Eps8l3 C A 3: 107,786,895 (GRCm39) P24T probably benign Het
Fancc A T 13: 63,478,446 (GRCm39) probably null Het
Firrm A T 1: 163,785,120 (GRCm39) V753D probably benign Het
Grid2 G A 6: 63,885,975 (GRCm39) A124T probably damaging Het
Ikbke C T 1: 131,204,204 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lmbrd2 G T 15: 9,175,269 (GRCm39) L393F probably benign Het
Lrrc26 T A 2: 25,180,536 (GRCm39) L179Q probably damaging Het
Mlx A G 11: 100,979,520 (GRCm39) D113G possibly damaging Het
Myod1 A G 7: 46,026,407 (GRCm39) K104R probably damaging Het
Nwd1 G A 8: 73,429,602 (GRCm39) probably null Het
Or56b2j T G 7: 104,353,200 (GRCm39) V142G probably damaging Het
Or5b118 A G 19: 13,448,336 (GRCm39) M1V probably null Het
Or6c3 A C 10: 129,308,746 (GRCm39) N62H probably damaging Het
Pacsin3 A T 2: 91,093,126 (GRCm39) Y206F probably damaging Het
Pcdhgb5 T A 18: 37,864,970 (GRCm39) V255E probably damaging Het
Pdp1 T C 4: 11,960,907 (GRCm39) D468G possibly damaging Het
Pgr C T 9: 8,900,600 (GRCm39) probably benign Het
Prrt2 T A 7: 126,617,899 (GRCm39) Y345F probably benign Het
Rbbp8nl T C 2: 179,920,461 (GRCm39) T515A probably damaging Het
Rc3h1 G T 1: 160,757,823 (GRCm39) R47L probably damaging Het
Rfpl4b T A 10: 38,697,281 (GRCm39) I107F possibly damaging Het
Rsbn1 T C 3: 103,869,801 (GRCm39) F754S probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn3a T C 2: 65,337,608 (GRCm39) T630A possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slco1a5 C A 6: 142,194,542 (GRCm39) C367F probably damaging Het
Slit1 A G 19: 41,613,959 (GRCm39) probably null Het
Slit2 G A 5: 48,378,333 (GRCm39) probably null Het
Snrnp40 G T 4: 130,258,958 (GRCm39) G122V possibly damaging Het
Stk16 T A 1: 75,190,248 (GRCm39) M111K probably damaging Het
Tbc1d2 T C 4: 46,616,298 (GRCm39) I477V probably benign Het
Tll1 T A 8: 64,570,974 (GRCm39) E199D probably damaging Het
Trhde A T 10: 114,424,407 (GRCm39) D459E probably benign Het
Ttn T C 2: 76,541,881 (GRCm39) R25375G possibly damaging Het
Tubgcp2 A T 7: 139,578,701 (GRCm39) M757K possibly damaging Het
Ubap1l T A 9: 65,279,337 (GRCm39) V212D possibly damaging Het
Ubqln5 A G 7: 103,778,632 (GRCm39) V64A possibly damaging Het
Usp47 A G 7: 111,709,204 (GRCm39) M1337V probably benign Het
Vmn1r201 T A 13: 22,659,409 (GRCm39) Y208N probably damaging Het
Xkr8 C T 4: 132,455,368 (GRCm39) R335H probably damaging Het
Zbtb49 A T 5: 38,373,870 (GRCm39) C25S probably damaging Het
Zeb2 T A 2: 44,887,800 (GRCm39) N404I probably damaging 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
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
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'- AGGCTCTGGATCATGTGGTC -3'
(R):5'- AGGTAAGTGTGCCCACGTAG -3'

Sequencing Primer
(F):5'- CCTGTGGCAGCTGCAAAAAG -3'
(R):5'- CCCACGTAGCAGGCAGC -3'
Posted On 2016-11-21