Incidental Mutation 'IGL03195:Ahcyl2'
| ID |
412799 |
| 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 # |
IGL03195
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29768378-29912309 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 29906768 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,903,607 (GRCm39) |
D1086G |
possibly damaging |
Het |
| Ankrd42 |
T |
A |
7: 92,241,066 (GRCm39) |
Q431L |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,031,766 (GRCm39) |
F592I |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,088,071 (GRCm39) |
|
probably null |
Het |
| Boc |
A |
G |
16: 44,313,184 (GRCm39) |
F560S |
probably damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,545,916 (GRCm39) |
V96E |
probably benign |
Het |
| Cep162 |
C |
T |
9: 87,107,839 (GRCm39) |
S517N |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,085,178 (GRCm39) |
N372S |
probably benign |
Het |
| Dnah7a |
G |
A |
1: 53,458,766 (GRCm39) |
R3791C |
probably damaging |
Het |
| Fdxr |
T |
C |
11: 115,166,918 (GRCm39) |
Q57R |
probably benign |
Het |
| Fsip2l |
T |
A |
X: 47,961,825 (GRCm39) |
Q296L |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,216,367 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,678,660 (GRCm39) |
T487I |
probably benign |
Het |
| Kpna7 |
A |
T |
5: 144,933,847 (GRCm39) |
I282N |
probably damaging |
Het |
| Lif |
A |
T |
11: 4,219,201 (GRCm39) |
Y160F |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,361,134 (GRCm39) |
D556E |
possibly damaging |
Het |
| Myom2 |
G |
T |
8: 15,161,844 (GRCm39) |
E954* |
probably null |
Het |
| Nr6a1 |
A |
T |
2: 38,632,948 (GRCm39) |
I171N |
probably damaging |
Het |
| Nup210 |
C |
A |
6: 90,992,832 (GRCm39) |
R1059L |
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,770,877 (GRCm39) |
T3A |
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,351,980 (GRCm39) |
I205T |
probably benign |
Het |
| Or2w25 |
G |
A |
11: 59,504,629 (GRCm39) |
V280M |
probably damaging |
Het |
| Or5ak4 |
A |
T |
2: 85,161,864 (GRCm39) |
I126N |
probably damaging |
Het |
| Or5aq6 |
A |
T |
2: 86,922,913 (GRCm39) |
V276E |
probably damaging |
Het |
| Ostm1 |
T |
C |
10: 42,574,213 (GRCm39) |
V302A |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,130,671 (GRCm39) |
M388V |
possibly damaging |
Het |
| Ppp6r2 |
G |
A |
15: 89,152,758 (GRCm39) |
V300I |
possibly damaging |
Het |
| Prmt1 |
T |
C |
7: 44,626,995 (GRCm39) |
Y205C |
probably damaging |
Het |
| Slc45a4 |
A |
C |
15: 73,456,272 (GRCm39) |
V636G |
possibly damaging |
Het |
| Spata18 |
T |
A |
5: 73,828,591 (GRCm39) |
L270Q |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,536,283 (GRCm39) |
D4151N |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,556,646 (GRCm39) |
C334Y |
probably damaging |
Het |
| Tmtc3 |
C |
T |
10: 100,294,896 (GRCm39) |
V406M |
probably benign |
Het |
| Trpc5 |
T |
A |
X: 143,165,724 (GRCm39) |
M900L |
probably benign |
Het |
| Ttc9c |
T |
C |
19: 8,793,344 (GRCm39) |
K99E |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,491,007 (GRCm39) |
E275G |
probably damaging |
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 |
|
IGL03072:Ahcyl2
|
APN |
6 |
29,906,500 (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 |
Incidental Mutation