Incidental Mutation 'IGL03133:Adarb1'
| ID |
410418 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adarb1
|
| Ensembl Gene |
ENSMUSG00000020262 |
| Gene Name |
adenosine deaminase, RNA-specific, B1 |
| Synonyms |
1700057H01Rik, RED1, D10Bwg0447e, ADAR2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77126560-77254104 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 77161730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020496]
[ENSMUST00000098374]
[ENSMUST00000105404]
[ENSMUST00000105406]
[ENSMUST00000126073]
[ENSMUST00000144547]
|
| AlphaFold |
Q91ZS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020496
|
| SMART Domains |
Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
79 |
143 |
1.9e-22 |
SMART |
|
low complexity region
|
192 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
DSRM
|
236 |
297 |
5.8e-21 |
SMART |
|
ADEAMc
|
322 |
698 |
2.1e-196 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098374
|
| SMART Domains |
Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
79 |
143 |
3.31e-20 |
SMART |
|
low complexity region
|
192 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
DSRM
|
236 |
297 |
9.87e-19 |
SMART |
|
ADEAMc
|
322 |
708 |
1.32e-191 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105404
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105406
|
| SMART Domains |
Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
79 |
143 |
3.31e-20 |
SMART |
|
low complexity region
|
192 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
DSRM
|
236 |
297 |
9.87e-19 |
SMART |
|
ADEAMc
|
322 |
708 |
1.32e-191 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126073
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156583
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a double-stranded-RNA-specific adenosine deaminase that is involved in editing pre-mRNAs by site-specific conversion of adenosine (A) to inosine (I). Substrates for this enzyme include ionotropic glutamate receptors (GluR2-6) and serotonin receptor (5HT2C). Studies in rodents have shown that this protein can modify its own pre-mRNA by A->I editing to create a novel acceptor splice site, alternative splicing to which results in down regulation of its protein expression. Additional splicing events result in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in progressive seizure susceptibility and death within 20 days of age. Mice homozygous for a conditional allele activated in neurons exhibit motor neuron degeneration, motor function abnormalities, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
C |
T |
7: 51,226,260 (GRCm39) |
R505* |
probably null |
Het |
| Asphd1 |
A |
G |
7: 126,547,452 (GRCm39) |
C284R |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,943,176 (GRCm39) |
W158R |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,743,411 (GRCm39) |
D188E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,584,777 (GRCm39) |
V306I |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,396,026 (GRCm39) |
|
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,072,726 (GRCm39) |
|
probably null |
Het |
| Dmwd |
T |
A |
7: 18,810,562 (GRCm39) |
V123D |
probably damaging |
Het |
| Eno1 |
A |
G |
4: 150,329,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,176,869 (GRCm39) |
T1542I |
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,296,699 (GRCm39) |
S274P |
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,670,494 (GRCm39) |
V72A |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,706,937 (GRCm39) |
E27G |
probably null |
Het |
| Mtor |
G |
T |
4: 148,568,776 (GRCm39) |
A1099S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,226,244 (GRCm39) |
I763V |
probably benign |
Het |
| Or5m10 |
G |
T |
2: 85,717,478 (GRCm39) |
E111D |
probably damaging |
Het |
| Or5p63 |
G |
T |
7: 107,811,594 (GRCm39) |
S47R |
possibly damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,009 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,276,002 (GRCm39) |
I108T |
probably damaging |
Het |
| Piwil1 |
C |
A |
5: 128,819,093 (GRCm39) |
H201N |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,532,576 (GRCm39) |
V433M |
possibly damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,182,799 (GRCm39) |
Y114H |
probably benign |
Het |
| Stx7 |
A |
T |
10: 24,060,936 (GRCm39) |
N221I |
probably damaging |
Het |
| Tbc1d31 |
A |
T |
15: 57,805,855 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
G |
16: 32,200,599 (GRCm39) |
L393R |
probably damaging |
Het |
| Vit |
A |
T |
17: 78,873,500 (GRCm39) |
M59L |
probably benign |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,600 (GRCm39) |
C92S |
probably benign |
Het |
|
| Other mutations in Adarb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00736:Adarb1
|
APN |
10 |
77,158,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01996:Adarb1
|
APN |
10 |
77,158,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02173:Adarb1
|
APN |
10 |
77,157,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02214:Adarb1
|
APN |
10 |
77,158,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02399:Adarb1
|
APN |
10 |
77,131,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02699:Adarb1
|
APN |
10 |
77,157,853 (GRCm39) |
missense |
probably benign |
|
|
IGL02867:Adarb1
|
APN |
10 |
77,149,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02889:Adarb1
|
APN |
10 |
77,149,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1806:Adarb1
|
UTSW |
10 |
77,158,099 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1834:Adarb1
|
UTSW |
10 |
77,153,065 (GRCm39) |
splice site |
probably benign |
|
|
R2174:Adarb1
|
UTSW |
10 |
77,131,632 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2233:Adarb1
|
UTSW |
10 |
77,153,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Adarb1
|
UTSW |
10 |
77,153,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2908:Adarb1
|
UTSW |
10 |
77,149,237 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3106:Adarb1
|
UTSW |
10 |
77,157,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Adarb1
|
UTSW |
10 |
77,158,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Adarb1
|
UTSW |
10 |
77,161,679 (GRCm39) |
intron |
probably benign |
|
|
R5497:Adarb1
|
UTSW |
10 |
77,161,723 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5869:Adarb1
|
UTSW |
10 |
77,161,450 (GRCm39) |
intron |
probably benign |
|
|
R6168:Adarb1
|
UTSW |
10 |
77,158,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7372:Adarb1
|
UTSW |
10 |
77,131,712 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7575:Adarb1
|
UTSW |
10 |
77,139,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7885:Adarb1
|
UTSW |
10 |
77,131,542 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9227:Adarb1
|
UTSW |
10 |
77,157,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Adarb1
|
UTSW |
10 |
77,157,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:Adarb1
|
UTSW |
10 |
77,158,267 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9457:Adarb1
|
UTSW |
10 |
77,157,982 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9688:Adarb1
|
UTSW |
10 |
77,147,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Adarb1
|
UTSW |
10 |
77,131,539 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Posted On |
2016-08-02 |
Incidental Mutation