Incidental Mutation 'R4861:Ahcy'
ID |
374286 |
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)
|
Stock # |
R4861 (G1)
|
Quality Score |
197 |
Status
|
Not 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
Domain | Start | End | E-Value | Type |
AdoHcyase
|
6 |
431 |
N/A |
SMART |
AdoHcyase_NAD
|
191 |
352 |
1.49e-118 |
SMART |
|
Meta Mutation Damage Score |
0.1160 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 87.7%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Bora |
T |
C |
14: 99,284,910 (GRCm39) |
|
probably null |
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 |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
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 |
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 |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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'- TCAAAGACAGAGTGACCAGC -3'
(R):5'- TAGCAAGGGTAGTGCCACTTG -3'
Sequencing Primer
(F):5'- TGTGGGAGAAGCACTGTCC -3'
(R):5'- TAGTGCCACTTGCCAGC -3'
|
Posted On |
2016-03-01 |