Incidental Mutation 'R1744:Cth'
ID 200569
Institutional Source Beutler Lab
Gene Symbol Cth
Ensembl Gene ENSMUSG00000028179
Gene Name cystathionine gamma lyase
Synonyms CSE, 0610010I13Rik
MMRRC Submission 039776-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1744 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 157599885-157630714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 157611905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 304 (R304P)
Ref Sequence ENSEMBL: ENSMUSP00000113672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118539]
AlphaFold Q8VCN5
Predicted Effect probably damaging
Transcript: ENSMUST00000118539
AA Change: R304P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113672
Gene: ENSMUSG00000028179
AA Change: R304P

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
Meta Mutation Damage Score 0.6875 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 98% (59/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A G 5: 81,942,267 (GRCm39) E1247G probably damaging Het
Bcl2l15 T A 3: 103,745,856 (GRCm39) L165Q probably damaging Het
Cd163 C A 6: 124,283,987 (GRCm39) A53E possibly damaging Het
Cemip2 C A 19: 21,809,501 (GRCm39) Y960* probably null Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Clca3a1 G T 3: 144,452,596 (GRCm39) A629D probably damaging Het
Csde1 T A 3: 102,957,631 (GRCm39) S463R probably benign Het
D7Ertd443e A G 7: 133,951,142 (GRCm39) V177A probably benign Het
Ddx56 G A 11: 6,216,396 (GRCm39) R189W probably damaging Het
Dennd2a A T 6: 39,457,185 (GRCm39) F752L probably benign Het
Gabrp A T 11: 33,522,462 (GRCm39) V28E probably benign Het
Gpam T C 19: 55,063,023 (GRCm39) E763G probably damaging Het
Hars1 G A 18: 36,903,885 (GRCm39) R266C probably benign Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Kmt2d T C 15: 98,762,928 (GRCm39) K281E probably damaging Het
Lbx1 T C 19: 45,222,652 (GRCm39) K124E probably damaging Het
Lcp2 T C 11: 34,019,911 (GRCm39) probably null Het
Mab21l2 T C 3: 86,454,211 (GRCm39) E263G possibly damaging Het
Macf1 A T 4: 123,369,646 (GRCm39) I140K probably damaging Het
Mcemp1 G A 8: 3,716,054 (GRCm39) A20T probably damaging Het
Met T C 6: 17,540,645 (GRCm39) V137A possibly damaging Het
Mgat5 T C 1: 127,407,206 (GRCm39) F624S probably damaging Het
Nutm2 T C 13: 50,623,390 (GRCm39) I29T probably benign Het
Ociad1 T C 5: 73,458,062 (GRCm39) probably null Het
Ogfod2 G A 5: 124,252,219 (GRCm39) probably null Het
Or6c69 A C 10: 129,747,262 (GRCm39) V295G probably damaging Het
Or8g4 A C 9: 39,661,711 (GRCm39) T10P probably benign Het
Otoa G A 7: 120,726,999 (GRCm39) probably benign Het
Otud3 A C 4: 138,623,059 (GRCm39) L394R probably damaging Het
Pde5a T C 3: 122,541,546 (GRCm39) V12A probably damaging Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prr27 A G 5: 87,990,906 (GRCm39) I173V possibly damaging Het
Psg29 T C 7: 16,944,278 (GRCm39) C263R probably damaging Het
Ptprm T C 17: 66,996,361 (GRCm39) Y1242C probably damaging Het
Retsat C T 6: 72,583,558 (GRCm39) R84* probably null Het
Rif1 G A 2: 52,002,404 (GRCm39) V1953I possibly damaging Het
Ros1 A T 10: 51,999,475 (GRCm39) N1137K probably damaging Het
Scn1a T C 2: 66,152,620 (GRCm39) H787R probably benign Het
Sec16a T C 2: 26,329,198 (GRCm39) E939G probably damaging Het
Sh2d4a G A 8: 68,783,807 (GRCm39) G247D possibly damaging Het
Siglec1 A G 2: 130,923,219 (GRCm39) S509P probably damaging Het
Slc25a30 A G 14: 76,000,770 (GRCm39) I278T probably damaging Het
Slc6a20a C T 9: 123,492,058 (GRCm39) V104I probably benign Het
Sp110 G C 1: 85,522,093 (GRCm39) T70S probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Stxbp1 A G 2: 32,696,731 (GRCm39) probably null Het
Tmem132b T C 5: 125,855,908 (GRCm39) probably null Het
Tnfsf13b G A 8: 10,081,661 (GRCm39) probably null Het
Trappc6a A G 7: 19,248,154 (GRCm39) E38G probably damaging Het
Trps1 T C 15: 50,524,609 (GRCm39) D857G probably damaging Het
Tspear T A 10: 77,700,718 (GRCm39) probably null Het
Vmn1r23 A T 6: 57,902,910 (GRCm39) N289K possibly damaging Het
Zcchc8 G A 5: 123,838,436 (GRCm39) Q701* probably null Het
Zfp618 A T 4: 63,004,871 (GRCm39) probably benign 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
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'- TGATGCCATTTGCCACCAGGAC -3'
(R):5'- TGCACAACCCCATTGTTAGGGATAC -3'

Sequencing Primer
(F):5'- TTTGCCACCAGGACTTAAGG -3'
(R):5'- AACCCCATTGTTAGGGATACTTTCG -3'
Posted On 2014-05-23