Incidental Mutation 'R3982:Cth'
ID 345299
Institutional Source Beutler Lab
Gene Symbol Cth
Ensembl Gene ENSMUSG00000028179
Gene Name cystathionine gamma lyase
Synonyms CSE, 0610010I13Rik
MMRRC Submission 041608-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3982 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 157599885-157630714 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 157619334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 163 (L163*)
Ref Sequence ENSEMBL: ENSMUSP00000113672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118539]
AlphaFold Q8VCN5
Predicted Effect probably null
Transcript: ENSMUST00000118539
AA Change: L163*
SMART Domains Protein: ENSMUSP00000113672
Gene: ENSMUSG00000028179
AA Change: L163*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (40/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,547,180 (GRCm39) probably null Het
Adgrg6 T C 10: 14,324,589 (GRCm39) N445S probably benign Het
Adgrl3 A G 5: 81,842,373 (GRCm39) T902A possibly damaging Het
Atf4 T C 15: 80,141,069 (GRCm39) V153A probably benign Het
Bsn T C 9: 107,984,365 (GRCm39) T3230A unknown Het
Cadps2 A G 6: 23,263,530 (GRCm39) probably benign Het
Clca3a1 T A 3: 144,461,070 (GRCm39) T194S probably benign Het
Flnc G A 6: 29,442,940 (GRCm39) V492M probably damaging Het
Frmd6 T C 12: 70,934,608 (GRCm39) L269P probably damaging Het
Gpr62 G A 9: 106,342,085 (GRCm39) A281V probably benign Het
Hapln1 T A 13: 89,753,560 (GRCm39) F242Y probably benign Het
Ighv1-39 A T 12: 114,878,251 (GRCm39) S107T possibly damaging Het
Itga8 A G 2: 12,305,774 (GRCm39) V72A possibly damaging Het
Kcp A T 6: 29,484,636 (GRCm39) L1314Q probably damaging Het
Klre1 T A 6: 129,560,101 (GRCm39) C124* probably null Het
Lrrk2 T A 15: 91,593,487 (GRCm39) M482K probably benign Het
Man2b2 T C 5: 36,971,164 (GRCm39) N734S probably benign Het
Map3k20 C T 2: 72,268,571 (GRCm39) T526I probably damaging Het
Mdga1 C A 17: 30,150,238 (GRCm39) A125S unknown Het
Mmd2 T C 5: 142,550,554 (GRCm39) Y228C probably damaging Het
Mme T A 3: 63,235,485 (GRCm39) Y178N probably damaging Het
Nifk T A 1: 118,257,282 (GRCm39) S138R possibly damaging Het
Nlrp4b T C 7: 10,448,358 (GRCm39) V187A possibly damaging Het
Palmd T C 3: 116,717,472 (GRCm39) T342A probably benign Het
Pigo A T 4: 43,023,482 (GRCm39) S231T probably benign Het
Pik3cb G A 9: 98,928,654 (GRCm39) T867M probably benign Het
Plag1 A T 4: 3,904,055 (GRCm39) S379T probably damaging Het
Polg2 G A 11: 106,670,028 (GRCm39) R81* probably null Het
Prpf4b C T 13: 35,068,196 (GRCm39) probably benign Het
Ptprq T A 10: 107,379,257 (GRCm39) I1981F probably damaging Het
Thoc2l T C 5: 104,668,889 (GRCm39) V1137A probably benign Het
Usp24 G A 4: 106,245,080 (GRCm39) E1307K probably benign Het
Vmn2r115 T A 17: 23,578,948 (GRCm39) M807K probably damaging Het
Wee2 A T 6: 40,432,175 (GRCm39) N248I possibly 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
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'- CTGAGGTTCACTGATCCCAG -3'
(R):5'- CAGACTCGGACTTAAGTGTTCCAC -3'

Sequencing Primer
(F):5'- TGAGGTTCACTGATCCCAGAAAAAC -3'
(R):5'- AGTGTTCCACTTTTATTGTCGAAGC -3'
Posted On 2015-09-25