Incidental Mutation 'R5397:Adar'
| ID |
429732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adar
|
| Ensembl Gene |
ENSMUSG00000027951 |
| Gene Name |
adenosine deaminase, RNA-specific |
| Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
| MMRRC Submission |
042968-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5397 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89642626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 169
(I169T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029563]
[ENSMUST00000098924]
[ENSMUST00000107405]
[ENSMUST00000118341]
[ENSMUST00000121094]
|
| AlphaFold |
Q99MU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029563
AA Change: I169T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: I169T
| 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
AA Change: I169T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: I169T
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
T |
C |
14: 8,243,803 (GRCm38) |
T518A |
probably benign |
Het |
| Acvr1b |
T |
A |
15: 101,096,845 (GRCm39) |
V254D |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,034,119 (GRCm39) |
Q187L |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,002,319 (GRCm39) |
M1037K |
probably damaging |
Het |
| Bsg |
T |
A |
10: 79,544,629 (GRCm39) |
W56R |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,978,627 (GRCm39) |
T276A |
probably damaging |
Het |
| Capn2 |
A |
G |
1: 182,298,271 (GRCm39) |
C665R |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,869,056 (GRCm39) |
S248P |
possibly damaging |
Het |
| Cd68 |
C |
T |
11: 69,556,484 (GRCm39) |
V108I |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,279 (GRCm39) |
W131R |
probably damaging |
Het |
| Dhx58 |
A |
G |
11: 100,594,746 (GRCm39) |
V50A |
probably damaging |
Het |
| Fam124a |
A |
G |
14: 62,843,838 (GRCm39) |
S449G |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,441,160 (GRCm39) |
M371I |
possibly damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,226 (GRCm39) |
S644P |
probably damaging |
Het |
| Gucy1b1 |
G |
A |
3: 81,951,458 (GRCm39) |
T274I |
possibly damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,476,080 (GRCm39) |
V541A |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Lig4 |
G |
T |
8: 10,022,644 (GRCm39) |
R379S |
probably benign |
Het |
| Map7 |
G |
A |
10: 20,149,067 (GRCm39) |
R514Q |
unknown |
Het |
| Mertk |
T |
A |
2: 128,613,384 (GRCm39) |
F467I |
possibly damaging |
Het |
| Mettl4 |
A |
T |
17: 95,034,705 (GRCm39) |
Y463* |
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Nme8 |
T |
C |
13: 19,878,549 (GRCm39) |
D70G |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,481,774 (GRCm39) |
N1161D |
probably damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,285 (GRCm39) |
C103S |
probably benign |
Het |
| Or51ac3 |
T |
A |
7: 103,213,713 (GRCm39) |
I258F |
probably damaging |
Het |
| Or6c76b |
T |
C |
10: 129,692,579 (GRCm39) |
F64S |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,977,002 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,679,614 (GRCm39) |
T923A |
probably benign |
Het |
| Pms1 |
T |
A |
1: 53,231,279 (GRCm39) |
K857* |
probably null |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
| Prpf3 |
A |
T |
3: 95,760,891 (GRCm39) |
S4T |
probably benign |
Het |
| Rdh14 |
T |
A |
12: 10,444,869 (GRCm39) |
V240D |
probably damaging |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| S100a1 |
A |
T |
3: 90,419,442 (GRCm39) |
M1K |
probably null |
Het |
| Slc2a5 |
G |
A |
4: 150,224,280 (GRCm39) |
|
probably null |
Het |
| Slc5a5 |
T |
C |
8: 71,343,823 (GRCm39) |
T160A |
probably damaging |
Het |
| Srcap |
T |
G |
7: 127,152,468 (GRCm39) |
|
probably null |
Het |
| Tgm6 |
T |
A |
2: 129,983,828 (GRCm39) |
M329K |
possibly damaging |
Het |
| Tom1l1 |
G |
A |
11: 90,552,600 (GRCm39) |
A201V |
probably benign |
Het |
| Trgv5 |
A |
C |
13: 19,376,728 (GRCm39) |
E42D |
possibly damaging |
Het |
| Ttc13 |
T |
C |
8: 125,402,002 (GRCm39) |
T662A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,555,599 (GRCm39) |
T30469A |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,936,660 (GRCm39) |
S645R |
probably benign |
Het |
| Vgll2 |
A |
G |
10: 51,901,262 (GRCm39) |
E64G |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,956,060 (GRCm39) |
C76* |
probably null |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,104 (GRCm39) |
N78D |
probably damaging |
Het |
| Zcchc10 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 53,223,344 (GRCm39) |
|
probably benign |
Het |
| Zcchc7 |
C |
A |
4: 44,926,048 (GRCm39) |
A28E |
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 |
|
|
R0762:Adar
|
UTSW |
3 |
89,647,290 (GRCm39) |
splice site |
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 |
|
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'- GTGTGACTCTCAGAAATCAGGGG -3'
(R):5'- ACTGTCCAAACCAGGCTCTC -3'
Sequencing Primer
(F):5'- TCTCAGAAATCAGGGGTTCCACATAG -3'
(R):5'- AAACCAGGCTCTCCTCTAGGG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation