Incidental Mutation 'IGL03072:Ahcyl2'
ID |
417566 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ahcyl2
|
Ensembl Gene |
ENSMUSG00000029772 |
Gene Name |
S-adenosylhomocysteine hydrolase-like 2 |
Synonyms |
4631427C17Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.574)
|
Stock # |
IGL03072
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
29768378-29912309 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 29906500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064872]
[ENSMUST00000102995]
[ENSMUST00000115238]
[ENSMUST00000115242]
[ENSMUST00000125911]
|
AlphaFold |
Q68FL4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064872
|
SMART Domains |
Protein: ENSMUSP00000067638 Gene: ENSMUSG00000029772
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
68 |
N/A |
INTRINSIC |
AdoHcyase
|
82 |
507 |
4.47e-268 |
SMART |
AdoHcyase_NAD
|
267 |
428 |
2.21e-103 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102995
|
SMART Domains |
Protein: ENSMUSP00000100060 Gene: ENSMUSG00000029772
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
low complexity region
|
35 |
80 |
N/A |
INTRINSIC |
low complexity region
|
142 |
172 |
N/A |
INTRINSIC |
AdoHcyase
|
186 |
611 |
4.47e-268 |
SMART |
AdoHcyase_NAD
|
371 |
532 |
2.21e-103 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115238
|
SMART Domains |
Protein: ENSMUSP00000110893 Gene: ENSMUSG00000029772
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
68 |
N/A |
INTRINSIC |
AdoHcyase
|
82 |
507 |
4.47e-268 |
SMART |
AdoHcyase_NAD
|
267 |
428 |
2.21e-103 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115242
|
SMART Domains |
Protein: ENSMUSP00000110897 Gene: ENSMUSG00000029772
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
low complexity region
|
35 |
80 |
N/A |
INTRINSIC |
low complexity region
|
143 |
173 |
N/A |
INTRINSIC |
AdoHcyase
|
187 |
612 |
4.47e-268 |
SMART |
AdoHcyase_NAD
|
372 |
533 |
2.21e-103 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125911
|
SMART Domains |
Protein: ENSMUSP00000135518 Gene: ENSMUSG00000029772
Domain | Start | End | E-Value | Type |
AdoHcyase
|
1 |
403 |
8.07e-243 |
SMART |
AdoHcyase_NAD
|
163 |
324 |
2.21e-103 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128837
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141304
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176693
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
G |
A |
13: 77,408,116 (GRCm39) |
V148I |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,983,872 (GRCm39) |
S1719P |
probably benign |
Het |
C2cd5 |
A |
G |
6: 143,025,609 (GRCm39) |
I196T |
possibly damaging |
Het |
Cdhr2 |
A |
G |
13: 54,874,474 (GRCm39) |
I849V |
probably benign |
Het |
Cpsf3 |
A |
G |
12: 21,345,089 (GRCm39) |
K134E |
possibly damaging |
Het |
Dnai1 |
A |
G |
4: 41,602,979 (GRCm39) |
T161A |
probably benign |
Het |
Gm17093 |
G |
T |
14: 44,758,129 (GRCm39) |
|
probably benign |
Het |
Igf2bp2 |
A |
G |
16: 21,886,891 (GRCm39) |
|
probably null |
Het |
Lcor |
T |
C |
19: 41,547,253 (GRCm39) |
V279A |
possibly damaging |
Het |
Myo9a |
C |
A |
9: 59,716,725 (GRCm39) |
T475K |
possibly damaging |
Het |
Nat8f4 |
A |
G |
6: 85,877,836 (GRCm39) |
|
probably benign |
Het |
Neto1 |
A |
G |
18: 86,516,714 (GRCm39) |
T344A |
probably benign |
Het |
Or6c203 |
A |
T |
10: 129,010,358 (GRCm39) |
D177E |
probably damaging |
Het |
Or7c19 |
A |
G |
8: 85,957,139 (GRCm39) |
N5S |
probably benign |
Het |
Or8k17 |
A |
T |
2: 86,066,804 (GRCm39) |
M118K |
probably damaging |
Het |
Pde8a |
A |
T |
7: 80,958,557 (GRCm39) |
I312F |
probably damaging |
Het |
Ppp3cb |
A |
G |
14: 20,581,793 (GRCm39) |
I74T |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,216,004 (GRCm39) |
|
probably benign |
Het |
Psg29 |
T |
C |
7: 16,942,719 (GRCm39) |
V240A |
probably benign |
Het |
Reep4 |
T |
C |
14: 70,785,675 (GRCm39) |
S238P |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tmprss5 |
T |
A |
9: 49,020,318 (GRCm39) |
N99K |
possibly damaging |
Het |
Tph1 |
G |
A |
7: 46,302,283 (GRCm39) |
T313M |
probably damaging |
Het |
Tprn |
T |
C |
2: 25,154,530 (GRCm39) |
S611P |
probably damaging |
Het |
Upp2 |
G |
T |
2: 58,645,435 (GRCm39) |
|
probably null |
Het |
Vezt |
C |
A |
10: 93,809,895 (GRCm39) |
A549S |
probably damaging |
Het |
Zfp786 |
A |
G |
6: 47,798,177 (GRCm39) |
Y254H |
probably benign |
Het |
|
Other mutations in Ahcyl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02966:Ahcyl2
|
APN |
6 |
29,880,556 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03195:Ahcyl2
|
APN |
6 |
29,906,768 (GRCm39) |
splice site |
probably benign |
|
R0189:Ahcyl2
|
UTSW |
6 |
29,891,242 (GRCm39) |
missense |
probably benign |
0.32 |
R0395:Ahcyl2
|
UTSW |
6 |
29,886,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Ahcyl2
|
UTSW |
6 |
29,890,670 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R0924:Ahcyl2
|
UTSW |
6 |
29,870,627 (GRCm39) |
splice site |
probably null |
|
R0930:Ahcyl2
|
UTSW |
6 |
29,870,627 (GRCm39) |
splice site |
probably null |
|
R1413:Ahcyl2
|
UTSW |
6 |
29,768,586 (GRCm39) |
utr 5 prime |
probably benign |
|
R1446:Ahcyl2
|
UTSW |
6 |
29,891,239 (GRCm39) |
missense |
probably damaging |
0.96 |
R1822:Ahcyl2
|
UTSW |
6 |
29,768,583 (GRCm39) |
utr 5 prime |
probably benign |
|
R1864:Ahcyl2
|
UTSW |
6 |
29,908,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R1865:Ahcyl2
|
UTSW |
6 |
29,908,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R3810:Ahcyl2
|
UTSW |
6 |
29,891,260 (GRCm39) |
missense |
probably benign |
0.01 |
R4429:Ahcyl2
|
UTSW |
6 |
29,894,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R4932:Ahcyl2
|
UTSW |
6 |
29,890,700 (GRCm39) |
missense |
probably benign |
0.22 |
R5019:Ahcyl2
|
UTSW |
6 |
29,859,738 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5032:Ahcyl2
|
UTSW |
6 |
29,768,555 (GRCm39) |
utr 5 prime |
probably benign |
|
R5396:Ahcyl2
|
UTSW |
6 |
29,859,697 (GRCm39) |
intron |
probably benign |
|
R5604:Ahcyl2
|
UTSW |
6 |
29,908,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R5817:Ahcyl2
|
UTSW |
6 |
29,890,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R5959:Ahcyl2
|
UTSW |
6 |
29,886,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R6159:Ahcyl2
|
UTSW |
6 |
29,908,457 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6531:Ahcyl2
|
UTSW |
6 |
29,886,161 (GRCm39) |
missense |
probably benign |
0.41 |
R7025:Ahcyl2
|
UTSW |
6 |
29,908,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R7478:Ahcyl2
|
UTSW |
6 |
29,903,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R7560:Ahcyl2
|
UTSW |
6 |
29,886,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R7604:Ahcyl2
|
UTSW |
6 |
29,768,555 (GRCm39) |
missense |
unknown |
|
R7960:Ahcyl2
|
UTSW |
6 |
29,870,626 (GRCm39) |
missense |
probably benign |
0.39 |
R7969:Ahcyl2
|
UTSW |
6 |
29,870,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R8046:Ahcyl2
|
UTSW |
6 |
29,878,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R8360:Ahcyl2
|
UTSW |
6 |
29,768,869 (GRCm39) |
missense |
probably benign |
|
R9432:Ahcyl2
|
UTSW |
6 |
29,768,874 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Posted On |
2016-08-02 |