Incidental Mutation 'R1724:Cth'
ID 191661
Institutional Source Beutler Lab
Gene Symbol Cth
Ensembl Gene ENSMUSG00000028179
Gene Name cystathionine gamma lyase
Synonyms CSE, 0610010I13Rik
MMRRC Submission 039756-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1724 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 157599885-157630714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 157619364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 153 (V153D)
Ref Sequence ENSEMBL: ENSMUSP00000113672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118539]
AlphaFold Q8VCN5
Predicted Effect probably damaging
Transcript: ENSMUST00000118539
AA Change: V153D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113672
Gene: ENSMUSG00000028179
AA Change: V153D

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
Meta Mutation Damage Score 0.9629 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 98% (50/51)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,881,306 (GRCm39) V761A probably benign Het
Arap1 G T 7: 101,049,733 (GRCm39) A1032S possibly damaging Het
Atg4d C T 9: 21,179,741 (GRCm39) H230Y probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bcdin3d T A 15: 99,368,561 (GRCm39) K213* probably null Het
Cep295nl T A 11: 118,223,854 (GRCm39) E330V probably benign Het
Col10a1 A G 10: 34,271,714 (GRCm39) Y562C probably damaging Het
Col9a2 G A 4: 120,911,099 (GRCm39) R578Q probably damaging Het
Creld1 A G 6: 113,461,535 (GRCm39) D85G possibly damaging Het
Dazap2 T A 15: 100,515,884 (GRCm39) Y71N probably damaging Het
Ddah1 A C 3: 145,597,261 (GRCm39) D269A probably damaging Het
Dhx9 A C 1: 153,334,234 (GRCm39) D975E probably benign Het
Erich3 T A 3: 154,467,964 (GRCm39) D805E possibly damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Gabpb2 T C 3: 95,113,826 (GRCm39) D19G probably damaging Het
Gabrr1 T A 4: 33,161,651 (GRCm39) M325K probably damaging Het
Galntl5 T G 5: 25,425,120 (GRCm39) N379K possibly damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm42791 C A 5: 148,896,311 (GRCm39) probably benign Het
Gm5356 G A 8: 89,913,684 (GRCm39) noncoding transcript Het
Kifap3 C T 1: 163,610,666 (GRCm39) R49* probably null Het
Kmt2c C T 5: 25,520,003 (GRCm39) G2036R probably damaging Het
Lce1l A T 3: 92,757,726 (GRCm39) V44E unknown Het
Lmbr1 T A 5: 29,566,081 (GRCm39) E48D probably benign Het
Nes C A 3: 87,884,748 (GRCm39) N958K probably benign Het
Nwd1 A C 8: 73,438,248 (GRCm39) H1432P probably damaging Het
Or2d2b G A 7: 106,705,409 (GRCm39) H220Y probably benign Het
Or52h9 T C 7: 104,202,435 (GRCm39) F103S probably damaging Het
Osgepl1 A G 1: 53,357,062 (GRCm39) T75A probably benign Het
Perm1 T C 4: 156,302,529 (GRCm39) S358P possibly damaging Het
Pramel14 C T 4: 143,720,002 (GRCm39) G121D probably benign Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Sdc4 G T 2: 164,273,206 (GRCm39) Q35K probably benign Het
Secisbp2 A G 13: 51,824,882 (GRCm39) S377G probably benign Het
Spag16 G C 1: 70,532,941 (GRCm39) G540A probably damaging Het
Sun1 T A 5: 139,221,480 (GRCm39) D517E probably benign Het
Taf3 A G 2: 9,957,177 (GRCm39) V177A probably benign Het
Thbs2 A G 17: 14,906,162 (GRCm39) L246P possibly damaging Het
Tle7 C A 8: 110,836,795 (GRCm39) T227N probably damaging Het
Trpm1 G T 7: 63,885,569 (GRCm39) G862* probably null Het
Trpm8 A T 1: 88,278,578 (GRCm39) T584S possibly damaging Het
Ythdc2 T C 18: 44,961,757 (GRCm39) S2P probably benign Het
Zc2hc1c G T 12: 85,336,586 (GRCm39) R81L probably benign Het
Zfp292 C A 4: 34,811,237 (GRCm39) L602F 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
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
Predicted Primers PCR Primer
(F):5'- CCTATTCCTGAGGTTCACTGATCCCAG -3'
(R):5'- AGCCTGTGTGAAGTTTGTAGAGAAAGC -3'

Sequencing Primer
(F):5'- GGTTCACTGATCCCAGAAAAACTTC -3'
(R):5'- TTTGTAGAGAAAGCTCAGACTCG -3'
Posted On 2014-05-14