Incidental Mutation 'R1567:Adar'
| ID |
175330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adar
|
| Ensembl Gene |
ENSMUSG00000027951 |
| Gene Name |
adenosine deaminase, RNA-specific |
| Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
| MMRRC Submission |
039606-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1567 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89643088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 323
(H323L)
|
| 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: H323L
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: H323L
| 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
AA Change: H75L
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: H75L
| 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: H323L
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: H323L
| 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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,030,352 (GRCm39) |
V155I |
probably benign |
Het |
| Actrt2 |
T |
C |
4: 154,751,371 (GRCm39) |
Q255R |
possibly damaging |
Het |
| Adgrg5 |
T |
A |
8: 95,664,326 (GRCm39) |
V312E |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,459,636 (GRCm39) |
T1808A |
probably damaging |
Het |
| Aox3 |
C |
A |
1: 58,233,852 (GRCm39) |
A1285E |
probably damaging |
Het |
| Arhgap40 |
T |
A |
2: 158,388,719 (GRCm39) |
L551Q |
probably damaging |
Het |
| Blk |
A |
G |
14: 63,618,178 (GRCm39) |
S243P |
probably damaging |
Het |
| Cfap206 |
G |
T |
4: 34,716,490 (GRCm39) |
A325E |
probably benign |
Het |
| Cimap1b |
C |
A |
15: 89,261,981 (GRCm39) |
R137L |
probably benign |
Het |
| Cnn3 |
A |
T |
3: 121,243,607 (GRCm39) |
K23* |
probably null |
Het |
| Cog8 |
G |
A |
8: 107,780,740 (GRCm39) |
R173* |
probably null |
Het |
| Col11a1 |
G |
A |
3: 113,932,261 (GRCm39) |
R880H |
unknown |
Het |
| Cyp2c40 |
T |
C |
19: 39,792,215 (GRCm39) |
Q243R |
probably null |
Het |
| Dcbld1 |
A |
G |
10: 52,195,752 (GRCm39) |
E391G |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,421,068 (GRCm39) |
A451S |
probably benign |
Het |
| Ddx43 |
A |
G |
9: 78,323,991 (GRCm39) |
K441E |
probably damaging |
Het |
| Depdc1a |
A |
T |
3: 159,228,177 (GRCm39) |
I310F |
possibly damaging |
Het |
| Dnah17 |
C |
T |
11: 118,016,811 (GRCm39) |
V247M |
probably damaging |
Het |
| Dtd1 |
G |
T |
2: 144,588,945 (GRCm39) |
G201V |
probably damaging |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,754 (GRCm39) |
I134F |
unknown |
Het |
| Enoph1 |
G |
A |
5: 100,208,884 (GRCm39) |
G80S |
probably benign |
Het |
| Fam76a |
A |
T |
4: 132,645,039 (GRCm39) |
Y48* |
probably null |
Het |
| Fut9 |
T |
G |
4: 25,620,344 (GRCm39) |
T157P |
probably damaging |
Het |
| Gm57859 |
T |
A |
11: 113,578,728 (GRCm39) |
V41D |
probably damaging |
Het |
| Gtpbp1 |
T |
C |
15: 79,596,391 (GRCm39) |
I310T |
probably damaging |
Het |
| Hk3 |
T |
A |
13: 55,154,418 (GRCm39) |
I753F |
probably damaging |
Het |
| Hnrnpl |
G |
T |
7: 28,519,608 (GRCm39) |
A419S |
possibly damaging |
Het |
| Ighv5-6 |
T |
C |
12: 113,589,528 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
A |
G |
1: 180,249,423 (GRCm39) |
T933A |
probably benign |
Het |
| Kcnn2 |
T |
G |
18: 45,803,401 (GRCm39) |
|
probably null |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lmcd1 |
C |
T |
6: 112,287,526 (GRCm39) |
R71C |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,201 (GRCm39) |
V237E |
probably damaging |
Het |
| Mybl1 |
T |
A |
1: 9,755,976 (GRCm39) |
E191V |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,335,279 (GRCm39) |
F158I |
possibly damaging |
Het |
| Nbr1 |
C |
G |
11: 101,466,037 (GRCm39) |
L748V |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,526,257 (GRCm39) |
T27M |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,377,554 (GRCm39) |
T174I |
possibly damaging |
Het |
| Nup85 |
T |
A |
11: 115,459,224 (GRCm39) |
I109K |
possibly damaging |
Het |
| Or10h28 |
A |
G |
17: 33,488,450 (GRCm39) |
I251V |
probably benign |
Het |
| Or2b28 |
A |
T |
13: 21,531,595 (GRCm39) |
I166L |
probably benign |
Het |
| Or2n1e |
A |
G |
17: 38,586,459 (GRCm39) |
I266V |
possibly damaging |
Het |
| Or4c12b |
T |
C |
2: 89,647,528 (GRCm39) |
L280P |
probably damaging |
Het |
| Or4k48 |
G |
T |
2: 111,476,271 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Or5b105 |
T |
C |
19: 13,080,006 (GRCm39) |
T221A |
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,985,589 (GRCm39) |
K64E |
unknown |
Het |
| Polr2a |
T |
C |
11: 69,636,857 (GRCm39) |
T365A |
probably benign |
Het |
| Prkcd |
A |
G |
14: 30,329,405 (GRCm39) |
C12R |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,401,748 (GRCm39) |
I1915V |
probably benign |
Het |
| Rcbtb2 |
G |
A |
14: 73,399,902 (GRCm39) |
V112I |
probably benign |
Het |
| Rxfp3 |
A |
G |
15: 11,036,187 (GRCm39) |
V395A |
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,774,563 (GRCm39) |
G1198C |
possibly damaging |
Het |
| Scn1a |
T |
A |
2: 66,103,675 (GRCm39) |
I1851F |
probably damaging |
Het |
| Selenop |
A |
G |
15: 3,309,180 (GRCm39) |
*377W |
probably null |
Het |
| Sema4a |
A |
T |
3: 88,359,353 (GRCm39) |
C113S |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,404,691 (GRCm39) |
S2575P |
probably benign |
Het |
| Stk24 |
T |
A |
14: 121,545,468 (GRCm39) |
I97L |
probably benign |
Het |
| Tap2 |
A |
G |
17: 34,433,065 (GRCm39) |
K449R |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,908,030 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,727,955 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,246,505 (GRCm39) |
F1204L |
possibly damaging |
Het |
| Ugt2b36 |
T |
C |
5: 87,240,258 (GRCm39) |
I42M |
probably damaging |
Het |
| Zdhhc8 |
A |
G |
16: 18,044,984 (GRCm39) |
L274P |
probably benign |
Het |
| Zfp974 |
C |
A |
7: 27,610,148 (GRCm39) |
D526Y |
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 |
|
|
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'- CCTGGCTAAGAACATTGGCCTCAC -3'
(R):5'- GGCATCTCCATGATGGCTCGAAAC -3'
Sequencing Primer
(F):5'- GAACATTGGCCTCACCAAGG -3'
(R):5'- TGATGGCTCGAAACTCACCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation