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)
|
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*
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:AdoHcyase
|
5 |
95 |
1.4e-43 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146367
|
Meta Mutation Damage Score |
0.9755 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |