Incidental Mutation 'R0762:Adar'
ID |
72438 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adar
|
Ensembl Gene |
ENSMUSG00000027951 |
Gene Name |
adenosine deaminase, RNA-specific |
Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
MMRRC Submission |
038942-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0762 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 89647290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029563]
[ENSMUST00000098924]
[ENSMUST00000107405]
[ENSMUST00000118341]
[ENSMUST00000121094]
|
AlphaFold |
Q99MU3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029563
|
SMART Domains |
Protein: ENSMUSP00000029563 Gene: ENSMUSG00000027951
Domain | Start | End | E-Value | Type |
Zalpha
|
134 |
203 |
8.97e-30 |
SMART |
Zalpha
|
244 |
312 |
7.69e-29 |
SMART |
low complexity region
|
322 |
337 |
N/A |
INTRINSIC |
low complexity region
|
347 |
359 |
N/A |
INTRINSIC |
DSRM
|
457 |
523 |
3.6e-21 |
SMART |
DSRM
|
568 |
634 |
4.36e-20 |
SMART |
DSRM
|
676 |
742 |
1.58e-17 |
SMART |
ADEAMc
|
762 |
1145 |
3.74e-205 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098924
|
SMART Domains |
Protein: ENSMUSP00000096525 Gene: ENSMUSG00000027951
Domain | Start | End | E-Value | Type |
Zalpha
|
1 |
64 |
3.1e-24 |
SMART |
low complexity region
|
74 |
89 |
N/A |
INTRINSIC |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
DSRM
|
209 |
275 |
3.6e-21 |
SMART |
DSRM
|
320 |
386 |
4.36e-20 |
SMART |
DSRM
|
428 |
494 |
1.58e-17 |
SMART |
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
ADEAMc
|
540 |
923 |
3.74e-205 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107405
|
SMART Domains |
Protein: ENSMUSP00000103028 Gene: ENSMUSG00000027951
Domain | Start | End | E-Value | Type |
Zalpha
|
134 |
203 |
8.97e-30 |
SMART |
Zalpha
|
244 |
312 |
7.69e-29 |
SMART |
low complexity region
|
322 |
337 |
N/A |
INTRINSIC |
low complexity region
|
347 |
359 |
N/A |
INTRINSIC |
DSRM
|
457 |
523 |
3.6e-21 |
SMART |
DSRM
|
568 |
634 |
4.36e-20 |
SMART |
DSRM
|
676 |
742 |
1.58e-17 |
SMART |
low complexity region
|
763 |
774 |
N/A |
INTRINSIC |
ADEAMc
|
788 |
1171 |
3.74e-205 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118341
|
SMART Domains |
Protein: ENSMUSP00000113453 Gene: ENSMUSG00000027951
Domain | Start | End | E-Value | Type |
DSRM
|
50 |
116 |
4.36e-20 |
SMART |
DSRM
|
158 |
224 |
1.58e-17 |
SMART |
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
ADEAMc
|
270 |
653 |
3.74e-205 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121094
|
SMART Domains |
Protein: ENSMUSP00000112969 Gene: ENSMUSG00000027951
Domain | Start | End | E-Value | Type |
DSRM
|
50 |
116 |
4.36e-20 |
SMART |
DSRM
|
158 |
224 |
1.58e-17 |
SMART |
ADEAMc
|
244 |
627 |
3.74e-205 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150637
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 93.9%
|
Validation Efficiency |
100% (61/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] PHENOTYPE: Homozygous null mice die during gestation. Inactivation of this locus has been associated with increased apoptosis and, in some lines, defects in both primitive and definitive hematopoiesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
A |
2: 19,482,667 (GRCm39) |
N475I |
probably damaging |
Het |
Aldh3b3 |
A |
T |
19: 4,015,747 (GRCm39) |
|
probably null |
Het |
Amtn |
C |
T |
5: 88,532,859 (GRCm39) |
T158I |
possibly damaging |
Het |
Ap1g2 |
A |
G |
14: 55,337,868 (GRCm39) |
|
probably benign |
Het |
Arhgef3 |
A |
G |
14: 27,119,584 (GRCm39) |
Y318C |
probably damaging |
Het |
Atg2b |
A |
C |
12: 105,641,229 (GRCm39) |
V69G |
possibly damaging |
Het |
Bbx |
G |
A |
16: 50,045,529 (GRCm39) |
T236I |
possibly damaging |
Het |
Bcl11b |
C |
T |
12: 107,931,922 (GRCm39) |
|
probably benign |
Het |
Catsperg1 |
T |
C |
7: 28,889,377 (GRCm39) |
I794V |
probably benign |
Het |
Ccdc88a |
C |
T |
11: 29,413,112 (GRCm39) |
|
probably benign |
Het |
Cdhr3 |
C |
A |
12: 33,110,300 (GRCm39) |
R328L |
probably benign |
Het |
Ces2e |
T |
A |
8: 105,656,496 (GRCm39) |
M242K |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,588,656 (GRCm39) |
|
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,360,686 (GRCm39) |
S39P |
unknown |
Het |
Cplane1 |
A |
G |
15: 8,247,900 (GRCm39) |
|
probably benign |
Het |
Cyp2a5 |
T |
A |
7: 26,538,298 (GRCm39) |
Y220* |
probably null |
Het |
Dcc |
T |
A |
18: 71,475,776 (GRCm39) |
|
probably benign |
Het |
Dnajb8 |
A |
G |
6: 88,200,036 (GRCm39) |
T191A |
probably damaging |
Het |
Ephx2 |
A |
T |
14: 66,339,628 (GRCm39) |
F199I |
probably damaging |
Het |
Fancd2 |
A |
G |
6: 113,551,619 (GRCm39) |
K1062E |
probably benign |
Het |
Fbxo33 |
A |
G |
12: 59,251,285 (GRCm39) |
V410A |
probably benign |
Het |
Gars1 |
T |
G |
6: 55,054,565 (GRCm39) |
|
probably null |
Het |
Git1 |
A |
C |
11: 77,390,660 (GRCm39) |
D132A |
possibly damaging |
Het |
Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,002,203 (GRCm39) |
T44A |
unknown |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Ifnlr1 |
A |
G |
4: 135,428,640 (GRCm39) |
K156E |
possibly damaging |
Het |
Klf13 |
T |
C |
7: 63,541,371 (GRCm39) |
N15S |
probably benign |
Het |
Krt77 |
T |
C |
15: 101,769,561 (GRCm39) |
|
probably null |
Het |
Ldc1 |
A |
G |
4: 130,115,417 (GRCm39) |
S44P |
probably damaging |
Het |
Map4 |
C |
A |
9: 109,867,546 (GRCm39) |
|
probably benign |
Het |
Mthfr |
T |
C |
4: 148,139,900 (GRCm39) |
I623T |
possibly damaging |
Het |
Myo7b |
T |
A |
18: 32,116,997 (GRCm39) |
T908S |
probably benign |
Het |
Nbeal2 |
T |
G |
9: 110,472,876 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
T |
G |
5: 63,957,757 (GRCm39) |
F362L |
probably benign |
Het |
Pcm1 |
A |
T |
8: 41,714,057 (GRCm39) |
R208W |
probably damaging |
Het |
Pkd2l1 |
T |
C |
19: 44,138,909 (GRCm39) |
D647G |
probably benign |
Het |
Plbd1 |
C |
T |
6: 136,618,145 (GRCm39) |
V24M |
probably damaging |
Het |
Polr2a |
G |
A |
11: 69,625,943 (GRCm39) |
P1698S |
unknown |
Het |
Prss12 |
T |
C |
3: 123,279,153 (GRCm39) |
I410T |
probably damaging |
Het |
Ptpre |
A |
G |
7: 135,280,964 (GRCm39) |
N565S |
probably damaging |
Het |
Rab44 |
T |
C |
17: 29,364,244 (GRCm39) |
L606P |
unknown |
Het |
Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
Rhd |
C |
T |
4: 134,603,612 (GRCm39) |
|
probably benign |
Het |
Rspo3 |
T |
A |
10: 29,375,917 (GRCm39) |
|
probably benign |
Het |
Sdccag8 |
T |
A |
1: 176,773,710 (GRCm39) |
N555K |
probably benign |
Het |
Skint6 |
T |
A |
4: 112,722,848 (GRCm39) |
|
probably benign |
Het |
Slc22a20 |
G |
A |
19: 6,036,036 (GRCm39) |
P45S |
probably damaging |
Het |
Slc5a2 |
A |
G |
7: 127,866,654 (GRCm39) |
Y124C |
probably damaging |
Het |
Spats2l |
T |
C |
1: 57,925,043 (GRCm39) |
L127P |
possibly damaging |
Het |
Taar8a |
T |
A |
10: 23,952,975 (GRCm39) |
I193N |
probably benign |
Het |
Ten1 |
C |
T |
11: 116,107,510 (GRCm39) |
|
probably benign |
Het |
Tfb2m |
T |
C |
1: 179,373,398 (GRCm39) |
E100G |
probably damaging |
Het |
Tom1 |
C |
T |
8: 75,778,934 (GRCm39) |
|
probably benign |
Het |
Vps52 |
G |
T |
17: 34,178,985 (GRCm39) |
R171L |
probably damaging |
Het |
Zcwpw2 |
A |
T |
9: 117,843,182 (GRCm39) |
|
noncoding transcript |
Het |
Zfhx4 |
G |
A |
3: 5,468,880 (GRCm39) |
E3013K |
probably damaging |
Het |
Zfp267 |
G |
A |
3: 36,220,016 (GRCm39) |
D680N |
possibly damaging |
Het |
Zfp777 |
C |
T |
6: 48,006,294 (GRCm39) |
V411M |
probably damaging |
Het |
|
Other mutations in Adar |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01726:Adar
|
APN |
3 |
89,638,147 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01743:Adar
|
APN |
3 |
89,652,747 (GRCm39) |
nonsense |
probably null |
|
IGL01982:Adar
|
APN |
3 |
89,645,397 (GRCm39) |
missense |
probably benign |
0.03 |
Derrick
|
UTSW |
3 |
89,643,474 (GRCm39) |
missense |
probably damaging |
1.00 |
Hellfire
|
UTSW |
3 |
89,654,882 (GRCm39) |
missense |
probably damaging |
1.00 |
logimen
|
UTSW |
3 |
89,638,121 (GRCm39) |
missense |
probably benign |
0.04 |
red
|
UTSW |
3 |
89,657,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R0153:Adar
|
UTSW |
3 |
89,638,121 (GRCm39) |
missense |
probably benign |
0.04 |
R0464:Adar
|
UTSW |
3 |
89,642,889 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0674:Adar
|
UTSW |
3 |
89,657,130 (GRCm39) |
intron |
probably benign |
|
R1567:Adar
|
UTSW |
3 |
89,643,088 (GRCm39) |
missense |
probably benign |
0.19 |
R1807:Adar
|
UTSW |
3 |
89,642,172 (GRCm39) |
missense |
probably benign |
0.00 |
R1858:Adar
|
UTSW |
3 |
89,646,589 (GRCm39) |
missense |
probably benign |
0.01 |
R1964:Adar
|
UTSW |
3 |
89,653,202 (GRCm39) |
missense |
probably benign |
0.23 |
R2440:Adar
|
UTSW |
3 |
89,642,161 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3731:Adar
|
UTSW |
3 |
89,653,962 (GRCm39) |
missense |
probably damaging |
0.99 |
R3854:Adar
|
UTSW |
3 |
89,643,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R4005:Adar
|
UTSW |
3 |
89,657,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R4105:Adar
|
UTSW |
3 |
89,647,401 (GRCm39) |
missense |
probably benign |
0.00 |
R4693:Adar
|
UTSW |
3 |
89,643,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R4980:Adar
|
UTSW |
3 |
89,638,121 (GRCm39) |
missense |
probably benign |
0.04 |
R5096:Adar
|
UTSW |
3 |
89,654,598 (GRCm39) |
makesense |
probably null |
|
R5199:Adar
|
UTSW |
3 |
89,653,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R5397:Adar
|
UTSW |
3 |
89,642,626 (GRCm39) |
missense |
probably benign |
|
R5406:Adar
|
UTSW |
3 |
89,643,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R5411:Adar
|
UTSW |
3 |
89,646,519 (GRCm39) |
missense |
probably benign |
0.39 |
R5446:Adar
|
UTSW |
3 |
89,647,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R5660:Adar
|
UTSW |
3 |
89,642,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R5724:Adar
|
UTSW |
3 |
89,642,476 (GRCm39) |
missense |
probably benign |
|
R6087:Adar
|
UTSW |
3 |
89,652,897 (GRCm39) |
missense |
probably benign |
0.05 |
R6935:Adar
|
UTSW |
3 |
89,654,525 (GRCm39) |
missense |
probably benign |
0.00 |
R7644:Adar
|
UTSW |
3 |
89,652,826 (GRCm39) |
missense |
probably benign |
0.00 |
R7893:Adar
|
UTSW |
3 |
89,657,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R8018:Adar
|
UTSW |
3 |
89,654,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R8053:Adar
|
UTSW |
3 |
89,654,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Adar
|
UTSW |
3 |
89,657,569 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8424:Adar
|
UTSW |
3 |
89,643,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R8466:Adar
|
UTSW |
3 |
89,658,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R8694:Adar
|
UTSW |
3 |
89,642,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R8791:Adar
|
UTSW |
3 |
89,643,445 (GRCm39) |
missense |
probably benign |
0.08 |
R8960:Adar
|
UTSW |
3 |
89,647,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R9022:Adar
|
UTSW |
3 |
89,643,045 (GRCm39) |
missense |
probably benign |
0.13 |
R9108:Adar
|
UTSW |
3 |
89,643,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R9320:Adar
|
UTSW |
3 |
89,658,368 (GRCm39) |
nonsense |
probably null |
|
R9599:Adar
|
UTSW |
3 |
89,654,516 (GRCm39) |
missense |
probably benign |
0.30 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACCGTTTCTGCTAAGGTTCCAG -3'
(R):5'- TGAGATCGGGCGTACTCCAACAAG -3'
Sequencing Primer
(F):5'- GTACTGTGTAGCAGTAGGAGCC -3'
(R):5'- AACAAGCCGCCTACGGG -3'
|
Posted On |
2013-09-30 |