Incidental Mutation 'R1226:Ahcy'
ID 152219
Institutional Source Beutler Lab
Gene Symbol Ahcy
Ensembl Gene ENSMUSG00000027597
Gene Name S-adenosylhomocysteine hydrolase
Synonyms SAHH, CuBP
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1226 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 154901230-154916417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154906817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 159 (T159A)
Ref Sequence ENSEMBL: ENSMUSP00000061851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054607] [ENSMUST00000137242]
AlphaFold P50247
Predicted Effect probably benign
Transcript: ENSMUST00000054607
AA Change: T159A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000061851
Gene: ENSMUSG00000027597
AA Change: T159A

DomainStartEndE-ValueType
AdoHcyase 6 431 N/A SMART
AdoHcyase_NAD 191 352 1.49e-118 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137242
SMART Domains Protein: ENSMUSP00000116774
Gene: ENSMUSG00000027597

DomainStartEndE-ValueType
Pfam:AdoHcyase 5 95 1.4e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146367
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q 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
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
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'- TCAAAGCCATGATACCTGAAGCAGC -3'
(R):5'- AGAGTGCATCAGATGACACCTCCC -3'

Sequencing Primer
(F):5'- GACTAAGTAAGAGCTTCATGTCCC -3'
(R):5'- TGACACCTCCCTGGGTGAC -3'
Posted On 2014-01-29