Incidental Mutation 'R4743:Ahcy'
ID 358167
Institutional Source Beutler Lab
Gene Symbol Ahcy
Ensembl Gene ENSMUSG00000027597
Gene Name S-adenosylhomocysteine hydrolase
Synonyms SAHH, CuBP
MMRRC Submission 041967-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4743 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 154901230-154916417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154910888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 27 (N27D)
Ref Sequence ENSEMBL: ENSMUSP00000116774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054607] [ENSMUST00000137242]
AlphaFold P50247
Predicted Effect probably benign
Transcript: ENSMUST00000054607
AA Change: N27D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000061851
Gene: ENSMUSG00000027597
AA Change: N27D

DomainStartEndE-ValueType
AdoHcyase 6 431 N/A SMART
AdoHcyase_NAD 191 352 1.49e-118 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000137242
AA Change: N27D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116774
Gene: ENSMUSG00000027597
AA Change: N27D

DomainStartEndE-ValueType
Pfam:AdoHcyase 5 95 1.4e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146367
Meta Mutation Damage Score 0.1293 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (44/45)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik A G 1: 85,858,972 (GRCm39) probably benign Het
Akap9 T G 5: 4,011,013 (GRCm39) L572R probably damaging Het
Akna A G 4: 63,296,850 (GRCm39) S909P probably damaging Het
Atr A G 9: 95,744,845 (GRCm39) E54G probably benign Het
Baz2b A G 2: 59,744,255 (GRCm39) S1417P probably benign Het
Colgalt2 A G 1: 152,276,094 (GRCm39) Y69C probably damaging Het
Comp A G 8: 70,828,711 (GRCm39) E181G probably damaging Het
Dcaf10 T A 4: 45,370,409 (GRCm39) S326T probably damaging Het
Dscam T C 16: 96,631,256 (GRCm39) E253G probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Epha1 G T 6: 42,349,155 (GRCm39) T36K probably benign Het
Ewsr1 A T 11: 5,033,541 (GRCm39) D210E unknown Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fndc1 T A 17: 7,991,111 (GRCm39) R862* probably null Het
Gbp8 T C 5: 105,178,707 (GRCm39) K203E possibly damaging Het
Gigyf2 T A 1: 87,292,970 (GRCm39) L79* probably null Het
Gm8220 T A 14: 44,523,152 (GRCm39) probably benign Het
Gm9755 A T 8: 67,966,929 (GRCm39) noncoding transcript Het
Il6 T C 5: 30,223,042 (GRCm39) Y120H probably damaging Het
Kcnma1 T C 14: 23,853,270 (GRCm39) T2A probably damaging Het
Mroh9 T C 1: 162,852,061 (GRCm39) Y876C probably benign Het
Plekhh2 A G 17: 84,878,548 (GRCm39) Y601C probably damaging Het
Rabgap1l G T 1: 160,281,353 (GRCm39) Q623K probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rapgef2 T C 3: 79,080,375 (GRCm39) Y109C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Slain2 T A 5: 73,114,927 (GRCm39) L386* probably null Het
Slc4a7 A G 14: 14,796,073 (GRCm38) probably null Het
Slco1c1 T C 6: 141,510,242 (GRCm39) C582R probably damaging Het
Sulf1 A G 1: 12,906,517 (GRCm39) N520D probably benign Het
Tbc1d7 A G 13: 43,323,325 (GRCm39) V22A probably damaging Het
Tmprss6 A G 15: 78,327,910 (GRCm39) V612A probably damaging Het
Trpv2 A G 11: 62,483,627 (GRCm39) E488G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Uspl1 A G 5: 149,146,566 (GRCm39) Y439C probably damaging Het
Vwf A G 6: 125,661,054 (GRCm39) probably null 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
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'- TCATGGCTGAGGTCAGAGAG -3'
(R):5'- CTGATTTTCCAAGGAGCACTTCTC -3'

Sequencing Primer
(F):5'- TCAGAGAGGGGAAGCAACTTG -3'
(R):5'- CACTTCTCTTTGTTGTGAGTGACAG -3'
Posted On 2015-11-11