Incidental Mutation 'IGL01462:Cth'
ID 88016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cth
Ensembl Gene ENSMUSG00000028179
Gene Name cystathionase (cystathionine gamma-lyase)
Synonyms CSE, 0610010I13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01462
Quality Score
Status
Chromosome 3
Chromosomal Location 157894248-157925077 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 157905167 bp (GRCm38)
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: 92,894,266 A30S probably benign Het
Aspg A G 12: 112,122,953 T392A probably benign Het
Atp8b5 C A 4: 43,368,010 Q878K possibly damaging Het
Ccdc85a G T 11: 28,576,506 H339Q probably damaging Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cog4 C T 8: 110,866,085 T430M probably benign Het
Col6a5 A G 9: 105,946,075 Y28H unknown Het
Dctn3 A T 4: 41,719,854 L84* probably null Het
Epha5 A T 5: 84,071,233 I868N probably damaging Het
Ephb2 T C 4: 136,771,370 N133D possibly damaging Het
Epor G A 9: 21,959,456 P376L probably damaging Het
Gsdme A G 6: 50,227,374 V201A possibly damaging Het
Hdgf G A 3: 87,914,524 E149K possibly damaging Het
Lrrfip2 T C 9: 111,205,849 probably null Het
Ly6g6d T C 17: 35,074,250 I40V probably benign Het
Mlh3 G A 12: 85,266,736 T892I probably benign Het
Mmp19 C T 10: 128,798,142 T304I probably damaging Het
Mmp28 T C 11: 83,443,776 D384G possibly damaging Het
Moxd1 T C 10: 24,244,388 probably null Het
Ncapg T C 5: 45,671,135 V76A probably benign Het
Nos1 C T 5: 117,867,709 R165C probably benign Het
Olfr376 T C 11: 73,374,752 M1T probably null Het
Olfr47 A G 6: 43,235,625 T6A possibly damaging Het
Pik3c2a T A 7: 116,376,250 H694L possibly damaging Het
Psme2 A G 14: 55,589,671 L60P probably damaging Het
Ptpn23 A G 9: 110,408,107 V4A probably benign Het
Rgr G T 14: 37,044,609 T160K probably damaging Het
Serpind1 A G 16: 17,336,923 I205V probably benign Het
Skap2 T C 6: 51,921,300 Y150C probably damaging Het
Soga3 T G 10: 29,148,258 L390R probably damaging Het
Srsf9 T C 5: 115,332,128 S122P probably damaging Het
Stox1 T G 10: 62,664,682 I700L probably benign Het
Tada1 A G 1: 166,388,725 D165G probably damaging Het
Traf5 A G 1: 191,999,867 S338P probably benign Het
Trim39 G A 17: 36,263,725 probably benign Het
Wbp2 G A 11: 116,081,240 A130V possibly damaging Het
Zcchc17 T C 4: 130,337,109 K96E probably benign Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging Het
Other mutations in Cth
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01744:Cth APN 3 157924935 missense probably benign
IGL03128:Cth APN 3 157921035 missense probably damaging 1.00
R0477:Cth UTSW 3 157905175 missense probably damaging 1.00
R0659:Cth UTSW 3 157920115 splice site probably benign
R1699:Cth UTSW 3 157907436 missense probably damaging 1.00
R1724:Cth UTSW 3 157913727 missense probably damaging 1.00
R1744:Cth UTSW 3 157906268 missense probably damaging 0.99
R3822:Cth UTSW 3 157918499 missense probably benign 0.27
R3937:Cth UTSW 3 157920040 missense possibly damaging 0.79
R3982:Cth UTSW 3 157913697 nonsense probably null
R4342:Cth UTSW 3 157924976 missense probably damaging 1.00
R5436:Cth UTSW 3 157894826 missense probably benign
R7466:Cth UTSW 3 157924885 missense probably benign 0.05
R8348:Cth UTSW 3 157925020 missense probably benign 0.19
R8448:Cth UTSW 3 157925020 missense probably benign 0.19
Posted On 2013-11-18