Incidental Mutation 'IGL02699:Adarb1'
| ID |
304073 |
| 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 # |
IGL02699
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77126560-77254104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77157853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 198
(D198G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020496]
[ENSMUST00000098374]
[ENSMUST00000105404]
[ENSMUST00000105406]
[ENSMUST00000126073]
[ENSMUST00000144547]
|
| AlphaFold |
Q91ZS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020496
AA Change: D198G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: D198G
| 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
AA Change: D198G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: D198G
| 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
AA Change: D198G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: D198G
| 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: ENSMUST00000150512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154607
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casq1 |
T |
C |
1: 172,047,263 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
A |
9: 78,579,271 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
T |
G |
4: 47,284,471 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
T |
C |
18: 80,493,400 (GRCm39) |
D365G |
probably benign |
Het |
| Daam1 |
T |
C |
12: 72,035,717 (GRCm39) |
F971L |
probably damaging |
Het |
| Dalrd3 |
T |
A |
9: 108,448,088 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
T |
C |
5: 139,139,105 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fbxo8 |
A |
G |
8: 57,043,223 (GRCm39) |
T236A |
possibly damaging |
Het |
| Ighv1-12 |
C |
A |
12: 114,579,736 (GRCm39) |
E29* |
probably null |
Het |
| Il17re |
A |
G |
6: 113,445,880 (GRCm39) |
D397G |
probably damaging |
Het |
| Ing5 |
A |
G |
1: 93,744,164 (GRCm39) |
N157D |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,025,905 (GRCm39) |
E395G |
possibly damaging |
Het |
| Letm1 |
T |
C |
5: 33,902,492 (GRCm39) |
E599G |
possibly damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,317 (GRCm39) |
T287A |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,070,851 (GRCm39) |
N131D |
possibly damaging |
Het |
| Or10ak13 |
G |
T |
4: 118,639,349 (GRCm39) |
C144* |
probably null |
Het |
| Or13p3 |
T |
C |
4: 118,567,395 (GRCm39) |
S264P |
probably benign |
Het |
| Or6c2b |
T |
G |
10: 128,947,640 (GRCm39) |
Y218S |
probably benign |
Het |
| Or8k38 |
A |
T |
2: 86,488,691 (GRCm39) |
I37N |
probably benign |
Het |
| Osm |
T |
C |
11: 4,189,723 (GRCm39) |
V169A |
possibly damaging |
Het |
| Phkg2 |
C |
T |
7: 127,181,722 (GRCm39) |
A278V |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,489,195 (GRCm39) |
M709K |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,464,364 (GRCm39) |
|
probably null |
Het |
| Ric1 |
T |
C |
19: 29,499,957 (GRCm39) |
L12P |
possibly damaging |
Het |
| Skor1 |
C |
A |
9: 63,047,328 (GRCm39) |
|
probably benign |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Syncrip |
A |
G |
9: 88,338,607 (GRCm39) |
|
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,459,259 (GRCm39) |
E57G |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,809,714 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
T |
C |
4: 107,049,735 (GRCm39) |
M140T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,774,433 (GRCm39) |
T2158A |
probably damaging |
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 |
|
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 |
|
IGL03133:Adarb1
|
APN |
10 |
77,161,730 (GRCm39) |
start gained |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation