Incidental Mutation 'R4861:Ahcy'
ID 380240
Institutional Source Beutler Lab
Gene Symbol Ahcy
Ensembl Gene ENSMUSG00000027597
Gene Name S-adenosylhomocysteine hydrolase
Synonyms SAHH, CuBP
MMRRC Submission 042472-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4861 (G1)
Quality Score 197
Status Validated
Chromosome 2
Chromosomal Location 154901230-154916417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154902436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 411 (E411G)
Ref Sequence ENSEMBL: ENSMUSP00000061851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054607]
AlphaFold P50247
Predicted Effect probably benign
Transcript: ENSMUST00000054607
AA Change: E411G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000061851
Gene: ENSMUSG00000027597
AA Change: E411G

DomainStartEndE-ValueType
AdoHcyase 6 431 N/A SMART
AdoHcyase_NAD 191 352 1.49e-118 SMART
Meta Mutation Damage Score 0.1160 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.2%
  • 20x: 84.7%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: See the ax allele for a deletion that includes the Ahcy gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,076,249 (GRCm39) R1153H probably damaging Het
Alpi T A 1: 87,028,191 (GRCm39) I211F probably damaging Het
Arfgef3 G A 10: 18,483,479 (GRCm39) A1415V probably benign Het
Car3 T C 3: 14,931,956 (GRCm39) V109A probably damaging Het
Cdk13 A T 13: 17,941,171 (GRCm39) V17D probably damaging Het
Cept1 A C 3: 106,413,048 (GRCm39) S226A probably damaging Het
Dbt A T 3: 116,341,727 (GRCm39) I443L probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Farp2 T C 1: 93,533,141 (GRCm39) L633S probably damaging Het
Frmd6 T G 12: 70,940,500 (GRCm39) S382A probably damaging Het
Gm26727 T C 2: 67,263,289 (GRCm39) I79M probably damaging Het
Gm5800 T A 14: 51,953,504 (GRCm39) N37I probably damaging Het
Hapln1 G A 13: 89,749,571 (GRCm39) G39S possibly damaging Het
Ice2 T A 9: 69,322,730 (GRCm39) S408R probably benign Het
Lctl T C 9: 64,027,045 (GRCm39) I131T possibly damaging Het
Mvk C T 5: 114,598,258 (GRCm39) probably benign Het
Mzt1 T C 14: 99,284,910 (GRCm39) probably null Het
Ncoa7 T A 10: 30,580,608 (GRCm39) M117L probably benign Het
Npy4r C T 14: 33,868,840 (GRCm39) W149* probably null Het
Nr5a2 A G 1: 136,876,458 (GRCm39) probably null Het
Odad1 A G 7: 45,592,297 (GRCm39) E359G probably damaging Het
Plg G A 17: 12,614,622 (GRCm39) E301K probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Rapgef2 T C 3: 78,981,743 (GRCm39) K1084R probably benign Het
Slc41a2 T C 10: 83,152,322 (GRCm39) Q51R probably damaging Het
Slc47a2 A T 11: 61,227,059 (GRCm39) C170S probably benign Het
Slco1b2 A T 6: 141,616,948 (GRCm39) N427I possibly damaging Het
Smc2 G A 4: 52,461,090 (GRCm39) R571H probably benign Het
Sp4 G T 12: 118,264,546 (GRCm39) probably null Het
Tas2r117 T C 6: 132,780,092 (GRCm39) F77L probably benign Het
Tbcd C T 11: 121,492,787 (GRCm39) R875C probably damaging Het
Thumpd2 A G 17: 81,334,230 (GRCm39) S453P probably benign Het
Vars2 G T 17: 35,972,825 (GRCm39) Q13K probably benign Het
Other mutations in Ahcy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Ahcy APN 2 154,909,281 (GRCm39) missense probably benign 0.26
IGL03001:Ahcy APN 2 154,906,748 (GRCm39) missense probably damaging 1.00
F5770:Ahcy UTSW 2 154,906,841 (GRCm39) nonsense probably null
R1226:Ahcy UTSW 2 154,906,817 (GRCm39) missense probably benign 0.01
R1572:Ahcy UTSW 2 154,910,851 (GRCm39) missense probably benign 0.06
R1741:Ahcy UTSW 2 154,906,154 (GRCm39) missense probably benign 0.29
R1879:Ahcy UTSW 2 154,906,072 (GRCm39) critical splice donor site probably null
R1898:Ahcy UTSW 2 154,904,173 (GRCm39) missense probably benign 0.20
R4743:Ahcy UTSW 2 154,910,888 (GRCm39) missense probably damaging 1.00
R4861:Ahcy UTSW 2 154,902,436 (GRCm39) missense probably benign 0.05
R6114:Ahcy UTSW 2 154,904,079 (GRCm39) missense probably damaging 1.00
R7107:Ahcy UTSW 2 154,910,893 (GRCm39) missense probably damaging 0.98
R9022:Ahcy UTSW 2 154,910,779 (GRCm39) missense probably damaging 0.99
V7582:Ahcy UTSW 2 154,906,841 (GRCm39) nonsense probably null
X0067:Ahcy UTSW 2 154,910,872 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAAGCACTGTCCAGGCTACTG -3'
(R):5'- TGACTCTTCTGATGGGGAGC -3'

Sequencing Primer
(F):5'- TCCAGGCTACTGCAAAGTTG -3'
(R):5'- CTCTTCTGATGGGGAGCACTGC -3'
Posted On 2016-04-15