Incidental Mutation 'R4342:Cth'
ID 324162
Institutional Source Beutler Lab
Gene Symbol Cth
Ensembl Gene ENSMUSG00000028179
Gene Name cystathionine gamma lyase
Synonyms CSE, 0610010I13Rik
MMRRC Submission 041100-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4342 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 157599885-157630714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 157630613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 19 (T19S)
Ref Sequence ENSEMBL: ENSMUSP00000113672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118539]
AlphaFold Q8VCN5
Predicted Effect noncoding transcript
Transcript: ENSMUST00000029827
Predicted Effect probably damaging
Transcript: ENSMUST00000118539
AA Change: T19S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113672
Gene: ENSMUSG00000028179
AA Change: T19S

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: ENSMUST00000125028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198623
Meta Mutation Damage Score 0.2983 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (68/69)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,827,421 (GRCm39) C488R probably benign Het
Adamts19 A T 18: 59,075,572 (GRCm39) H489L probably damaging Het
Ahnak T C 19: 8,989,447 (GRCm39) V3577A possibly damaging Het
Ajm1 A G 2: 25,469,120 (GRCm39) Y264H possibly damaging Het
Arhgap44 G A 11: 64,902,887 (GRCm39) R401* probably null Het
Cbx3-ps2 T C 13: 65,707,502 (GRCm39) noncoding transcript Het
Ccdc174 T A 6: 91,862,337 (GRCm39) L86* probably null Het
Cd38 A C 5: 44,026,431 (GRCm39) I72L probably benign Het
Cers4 T C 8: 4,571,223 (GRCm39) L264P probably damaging Het
Cldn23 A G 8: 36,292,652 (GRCm39) S279P probably benign Het
Dnajc22 T A 15: 99,002,345 (GRCm39) L330* probably null Het
Epas1 G A 17: 87,131,228 (GRCm39) C336Y probably damaging Het
Evi5l A C 8: 4,233,492 (GRCm39) probably benign Het
Fbxl2 A T 9: 113,814,374 (GRCm39) H272Q probably benign Het
Fgd3 C T 13: 49,427,185 (GRCm39) probably null Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fscn1 T C 5: 142,957,776 (GRCm39) Y308H probably damaging Het
Garin3 A G 11: 46,298,043 (GRCm39) D449G possibly damaging Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Gpatch2l T C 12: 86,307,453 (GRCm39) V277A probably benign Het
Greb1l T A 18: 10,544,561 (GRCm39) M1385K probably benign Het
Grin2a A G 16: 9,471,453 (GRCm39) I605T possibly damaging Het
Hoxc11 C T 15: 102,863,106 (GRCm39) S49F probably damaging Het
Igf2r C T 17: 12,928,398 (GRCm39) E982K possibly damaging Het
Ighv10-3 A T 12: 114,487,124 (GRCm39) M99K possibly damaging Het
Itgb4 A T 11: 115,879,555 (GRCm39) T614S probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Mast4 A G 13: 102,910,756 (GRCm39) V461A probably damaging Het
Mcts2 G A 2: 152,529,584 (GRCm39) V132M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Nbeal2 A G 9: 110,460,861 (GRCm39) probably benign Het
Nek4 T C 14: 30,675,863 (GRCm39) V66A probably damaging Het
Nfasc A G 1: 132,559,443 (GRCm39) F229S probably damaging Het
Nhsl1 T C 10: 18,402,437 (GRCm39) F1221S probably damaging Het
Nr1d1 T G 11: 98,662,640 (GRCm39) K118Q probably damaging Het
Ntaq1 T C 15: 58,016,110 (GRCm39) S120P probably benign Het
Ntm T C 9: 29,020,727 (GRCm39) E164G probably damaging Het
Or51a7 A G 7: 102,615,231 (GRCm39) N308S probably benign Het
Parp1 G T 1: 180,414,894 (GRCm39) A411S probably benign Het
Pds5b A G 5: 150,724,319 (GRCm39) T1301A probably benign Het
Pkhd1 A G 1: 20,128,841 (GRCm39) V3954A probably benign Het
Pkp4 A T 2: 59,180,952 (GRCm39) K739I probably damaging Het
Pla2g4e T C 2: 120,016,927 (GRCm39) probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ralgds T C 2: 28,442,107 (GRCm39) L96P probably damaging Het
Rbm6 A T 9: 107,724,446 (GRCm39) probably benign Het
Scp2d1 T C 2: 144,666,087 (GRCm39) L142P probably damaging Het
Setd5 AT ATT 6: 113,088,281 (GRCm39) probably benign Het
Sgf29 G A 7: 126,270,949 (GRCm39) C143Y probably damaging Het
Slc22a12 A G 19: 6,591,129 (GRCm39) I156T probably benign Het
Stambpl1 A G 19: 34,211,446 (GRCm39) Q169R probably benign Het
Tex2 T C 11: 106,457,832 (GRCm39) probably benign Het
Trip11 A T 12: 101,850,575 (GRCm39) I878N probably damaging Het
Ttf1 C T 2: 28,955,488 (GRCm39) S284L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b5 A T 5: 87,287,582 (GRCm39) V195E probably damaging Het
Vmn1r14 T A 6: 57,210,808 (GRCm39) Y85N probably benign Het
Zfp131 C T 13: 120,237,554 (GRCm39) R268H probably damaging Het
Other mutations in Cth
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Cth APN 3 157,610,804 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TTCAAAGTAGGACTGGCTGC -3'
(R):5'- ACTGCCGACCAATAAGCAGG -3'

Sequencing Primer
(F):5'- GCTTCGATGCTACAGAATTCAAC -3'
(R):5'- CAATAAGCAGGGCCGCTG -3'
Posted On 2015-06-24