Incidental Mutation 'V7582:Ahcy'
ID 152590
Institutional Source Beutler Lab
Gene Symbol Ahcy
Ensembl Gene ENSMUSG00000027597
Gene Name S-adenosylhomocysteine hydrolase
Synonyms SAHH, CuBP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # V7582 () of strain stinger
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 154901230-154916417 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 154906841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 151 (R151*)
Ref Sequence ENSEMBL: ENSMUSP00000061851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054607] [ENSMUST00000137242]
AlphaFold P50247
Predicted Effect probably null
Transcript: ENSMUST00000054607
AA Change: R151*
SMART Domains Protein: ENSMUSP00000061851
Gene: ENSMUSG00000027597
AA Change: R151*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,595,050 (GRCm39) H102L possibly damaging Het
Atp6v1h A G 1: 5,194,666 (GRCm39) T282A possibly damaging Het
Cdc42bpb C T 12: 111,262,825 (GRCm39) G1501S probably benign Het
Dnajc22 T A 15: 98,999,363 (GRCm39) Y183N probably damaging Het
Dpyd C T 3: 118,690,775 (GRCm39) Q295* probably null Het
Dync2i1 A C 12: 116,175,460 (GRCm39) S906A possibly damaging Het
Erv3 T C 2: 131,697,846 (GRCm39) H171R possibly damaging Het
Fam221b T C 4: 43,665,865 (GRCm39) T249A probably benign Het
Fbrsl1 C T 5: 110,527,292 (GRCm39) A129T possibly damaging Het
Fcgr1 T C 3: 96,191,592 (GRCm39) *405W probably null Het
Gm4787 G A 12: 81,424,341 (GRCm39) Q606* probably null Het
Hira G A 16: 18,713,571 (GRCm39) A29T probably damaging Het
Izumo4 A T 10: 80,539,725 (GRCm39) T155S probably benign Het
Kcnb2 A G 1: 15,780,315 (GRCm39) I396V probably benign Het
Lpar5 C A 6: 125,058,690 (GRCm39) A137E possibly damaging Het
Lrp4 C T 2: 91,318,863 (GRCm39) S900L possibly damaging Het
Med20 G A 17: 47,929,757 (GRCm39) V65M probably damaging Het
Myrfl T C 10: 116,697,435 (GRCm39) T30A probably damaging Het
Or10j7 G T 1: 173,011,531 (GRCm39) L157I probably benign Het
Otop3 T A 11: 115,235,664 (GRCm39) L432Q probably damaging Het
Papln C T 12: 83,825,608 (GRCm39) R608C possibly damaging Het
Pelp1 T A 11: 70,288,976 (GRCm39) T257S probably damaging Het
Pik3cd A C 4: 149,741,776 (GRCm39) L390R probably damaging Het
Plekhb1 T C 7: 100,303,825 (GRCm39) T112A probably benign Het
Rbbp8nl T A 2: 179,920,001 (GRCm39) T558S probably benign Het
Rundc3b TGCCGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGCCGC 5: 8,672,549 (GRCm39) probably benign Het
Slc30a4 T A 2: 122,531,458 (GRCm39) M136L probably benign Het
Spaca1 T C 4: 34,039,311 (GRCm39) E192G probably damaging Het
Thbd A T 2: 148,249,110 (GRCm39) Y253N probably benign Het
Tiam1 C T 16: 89,662,159 (GRCm39) R653H probably damaging Het
Tnrc6c G A 11: 117,614,152 (GRCm39) R770H probably damaging Het
Toe1 A T 4: 116,663,308 (GRCm39) N56K probably damaging Het
Tprkb A G 6: 85,905,764 (GRCm39) K150E probably damaging Het
Zfp292 C T 4: 34,806,783 (GRCm39) C2087Y possibly damaging Het
Zfp933 G A 4: 147,910,927 (GRCm39) A223V probably damaging 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
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
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