Incidental Mutation 'IGL02867:Adarb1'
| ID |
362373 |
| 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 # |
IGL02867
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77126560-77254104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77149375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 371
(V371I)
|
| 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: V371I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: V371I
| 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: V371I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: V371I
| 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: V371I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: V371I
| 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: ENSMUST00000149738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154607
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
A |
5: 24,776,149 (GRCm39) |
Y310F |
probably benign |
Het |
| Antxr2 |
G |
T |
5: 98,125,509 (GRCm39) |
H249Q |
probably benign |
Het |
| Arel1 |
A |
T |
12: 84,981,097 (GRCm39) |
N303K |
probably benign |
Het |
| Bloc1s6 |
T |
C |
2: 122,584,604 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ccdc125 |
A |
T |
13: 100,820,790 (GRCm39) |
|
probably benign |
Het |
| Cxcl16 |
A |
T |
11: 70,349,892 (GRCm39) |
Y45N |
possibly damaging |
Het |
| Dnajb3 |
T |
A |
1: 88,133,249 (GRCm39) |
Q51L |
probably benign |
Het |
| Ear10 |
A |
G |
14: 44,160,726 (GRCm39) |
F34L |
probably damaging |
Het |
| Fgf11 |
A |
G |
11: 69,690,498 (GRCm39) |
S100P |
possibly damaging |
Het |
| Fpgs |
G |
A |
2: 32,575,891 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
A |
T |
15: 6,609,527 (GRCm39) |
Q33H |
probably damaging |
Het |
| Ints3 |
G |
T |
3: 90,300,143 (GRCm39) |
H925N |
probably damaging |
Het |
| Krt16 |
T |
C |
11: 100,138,402 (GRCm39) |
K249E |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,382,794 (GRCm39) |
S30R |
possibly damaging |
Het |
| Naa35 |
T |
C |
13: 59,756,668 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,770,970 (GRCm39) |
I34V |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,376,817 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or8g2b |
A |
G |
9: 39,751,533 (GRCm39) |
M268V |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,426,214 (GRCm39) |
|
probably benign |
Het |
| Pramel6 |
A |
T |
2: 87,340,736 (GRCm39) |
Q356L |
probably damaging |
Het |
| Prima1 |
A |
G |
12: 103,163,575 (GRCm39) |
V132A |
probably benign |
Het |
| Psme1 |
A |
G |
14: 55,817,383 (GRCm39) |
|
probably benign |
Het |
| Rdh11 |
A |
G |
12: 79,235,828 (GRCm39) |
V40A |
possibly damaging |
Het |
| Rin1 |
C |
T |
19: 5,103,198 (GRCm39) |
R485C |
probably damaging |
Het |
| Rnf40 |
C |
A |
7: 127,190,601 (GRCm39) |
S255* |
probably null |
Het |
| Spata24 |
C |
A |
18: 35,789,805 (GRCm39) |
R194L |
probably benign |
Het |
| Spata31h1 |
C |
T |
10: 82,119,654 (GRCm39) |
S482N |
probably damaging |
Het |
| Tas1r1 |
A |
T |
4: 152,112,735 (GRCm39) |
S773T |
probably damaging |
Het |
| Trdv5 |
G |
T |
14: 54,386,429 (GRCm39) |
|
probably benign |
Het |
| Trpc3 |
A |
C |
3: 36,694,850 (GRCm39) |
D701E |
probably benign |
Het |
| Vim |
A |
G |
2: 13,585,491 (GRCm39) |
R424G |
probably damaging |
Het |
| Vmn1r216 |
A |
C |
13: 23,283,649 (GRCm39) |
T111P |
probably damaging |
Het |
| Zbtb26 |
A |
C |
2: 37,326,261 (GRCm39) |
N247K |
probably benign |
Het |
| Zfp629 |
T |
G |
7: 127,209,203 (GRCm39) |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation