Incidental Mutation 'IGL01462:Cth'
ID 88016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cth
Ensembl Gene ENSMUSG00000028179
Gene Name cystathionine gamma lyase
Synonyms CSE, 0610010I13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01462
Quality Score
Status
Chromosome 3
Chromosomal Location 157599885-157630714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 157610804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 343 (Y343N)
Ref Sequence ENSEMBL: ENSMUSP00000113672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118539]
AlphaFold Q8VCN5
Predicted Effect probably damaging
Transcript: ENSMUST00000118539
AA Change: Y343N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113672
Gene: ENSMUSG00000028179
AA Change: Y343N

DomainStartEndE-ValueType
Pfam:Cys_Met_Meta_PP 18 394 5.8e-157 PFAM
Pfam:Aminotran_1_2 32 235 4.3e-9 PFAM
Pfam:DegT_DnrJ_EryC1 53 246 1.9e-7 PFAM
Pfam:Aminotran_5 68 232 4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198009
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 cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit hypertension associated with impaired endothelium-dependent vasorelaxation. Mice homozygous for another knock-out allele exhibit normal blood pressure but sensitivty to a low cysteine diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C A 6: 92,871,247 (GRCm39) A30S probably benign Het
Aspg A G 12: 112,089,387 (GRCm39) T392A probably benign Het
Atp8b5 C A 4: 43,368,010 (GRCm39) Q878K possibly damaging Het
Ccdc85a G T 11: 28,526,506 (GRCm39) H339Q probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cog4 C T 8: 111,592,717 (GRCm39) T430M probably benign Het
Col6a5 A G 9: 105,823,274 (GRCm39) Y28H unknown Het
Dctn3 A T 4: 41,719,854 (GRCm39) L84* probably null Het
Epha5 A T 5: 84,219,092 (GRCm39) I868N probably damaging Het
Ephb2 T C 4: 136,498,681 (GRCm39) N133D possibly damaging Het
Epor G A 9: 21,870,752 (GRCm39) P376L probably damaging Het
Gsdme A G 6: 50,204,354 (GRCm39) V201A possibly damaging Het
Hdgf G A 3: 87,821,831 (GRCm39) E149K possibly damaging Het
Lrrfip2 T C 9: 111,034,917 (GRCm39) probably null Het
Ly6g6d T C 17: 35,293,226 (GRCm39) I40V probably benign Het
Mlh3 G A 12: 85,313,510 (GRCm39) T892I probably benign Het
Mmp19 C T 10: 128,634,011 (GRCm39) T304I probably damaging Het
Mmp28 T C 11: 83,334,602 (GRCm39) D384G possibly damaging Het
Moxd1 T C 10: 24,120,286 (GRCm39) probably null Het
Mtcl3 T G 10: 29,024,254 (GRCm39) L390R probably damaging Het
Ncapg T C 5: 45,828,477 (GRCm39) V76A probably benign Het
Nos1 C T 5: 118,005,774 (GRCm39) R165C probably benign Het
Or1e1c T C 11: 73,265,578 (GRCm39) M1T probably null Het
Or2a57 A G 6: 43,212,559 (GRCm39) T6A possibly damaging Het
Pik3c2a T A 7: 115,975,485 (GRCm39) H694L possibly damaging Het
Psme2 A G 14: 55,827,128 (GRCm39) L60P probably damaging Het
Ptpn23 A G 9: 110,237,175 (GRCm39) V4A probably benign Het
Rgr G T 14: 36,766,566 (GRCm39) T160K probably damaging Het
Serpind1 A G 16: 17,154,787 (GRCm39) I205V probably benign Het
Skap2 T C 6: 51,898,280 (GRCm39) Y150C probably damaging Het
Srsf9 T C 5: 115,470,187 (GRCm39) S122P probably damaging Het
Stox1 T G 10: 62,500,461 (GRCm39) I700L probably benign Het
Tada1 A G 1: 166,216,294 (GRCm39) D165G probably damaging Het
Traf5 A G 1: 191,731,828 (GRCm39) S338P probably benign Het
Trim39 G A 17: 36,574,617 (GRCm39) probably benign Het
Wbp2 G A 11: 115,972,066 (GRCm39) A130V possibly damaging Het
Zcchc17 T C 4: 130,230,902 (GRCm39) K96E probably benign Het
Zfp800 G A 6: 28,242,983 (GRCm39) L661F possibly damaging Het
Other mutations in Cth
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01744:Cth APN 3 157,630,572 (GRCm39) missense probably benign
IGL03128:Cth APN 3 157,626,672 (GRCm39) missense probably damaging 1.00
R0477:Cth UTSW 3 157,610,812 (GRCm39) missense probably damaging 1.00
R0659:Cth UTSW 3 157,625,752 (GRCm39) splice site probably benign
R1699:Cth UTSW 3 157,613,073 (GRCm39) missense probably damaging 1.00
R1724:Cth UTSW 3 157,619,364 (GRCm39) missense probably damaging 1.00
R1744:Cth UTSW 3 157,611,905 (GRCm39) missense probably damaging 0.99
R3822:Cth UTSW 3 157,624,136 (GRCm39) missense probably benign 0.27
R3937:Cth UTSW 3 157,625,677 (GRCm39) missense possibly damaging 0.79
R3982:Cth UTSW 3 157,619,334 (GRCm39) nonsense probably null
R4342:Cth UTSW 3 157,630,613 (GRCm39) missense probably damaging 1.00
R5436:Cth UTSW 3 157,600,463 (GRCm39) missense probably benign
R7466:Cth UTSW 3 157,630,522 (GRCm39) missense probably benign 0.05
R8348:Cth UTSW 3 157,630,657 (GRCm39) missense probably benign 0.19
R8448:Cth UTSW 3 157,630,657 (GRCm39) missense probably benign 0.19
R9441:Cth UTSW 3 157,616,575 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18