Incidental Mutation 'R5724:Adar'
| ID |
452363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adar
|
| Ensembl Gene |
ENSMUSG00000027951 |
| Gene Name |
adenosine deaminase, RNA-specific |
| Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
| MMRRC Submission |
043342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5724 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89642476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 119
(G119V)
|
| 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: G119V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: G119V
| 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: G119V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: G119V
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3830408C21Rik |
A |
T |
13: 107,168,905 (GRCm39) |
|
noncoding transcript |
Het |
| Adam5 |
T |
A |
8: 25,294,511 (GRCm39) |
K363* |
probably null |
Het |
| Adamts12 |
T |
C |
15: 11,286,836 (GRCm39) |
Y814H |
probably benign |
Het |
| Adprs |
G |
T |
4: 126,211,869 (GRCm39) |
Q148K |
probably damaging |
Het |
| Atr |
G |
T |
9: 95,748,641 (GRCm39) |
L395F |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,176,192 (GRCm39) |
I1946V |
possibly damaging |
Het |
| Bend4 |
T |
A |
5: 67,575,284 (GRCm39) |
D199V |
probably damaging |
Het |
| Bpifb1 |
C |
A |
2: 154,046,712 (GRCm39) |
H77Q |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,714,833 (GRCm39) |
T595A |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,905,499 (GRCm39) |
|
probably benign |
Het |
| Cxcl16 |
T |
C |
11: 70,349,990 (GRCm39) |
D12G |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,819,090 (GRCm39) |
W459R |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,099,785 (GRCm39) |
L636P |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,853,824 (GRCm39) |
T197A |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,692 (GRCm39) |
R139S |
probably benign |
Het |
| Fer |
C |
A |
17: 64,231,152 (GRCm39) |
T301K |
probably damaging |
Het |
| Fgf21 |
A |
T |
7: 45,264,729 (GRCm39) |
M1K |
probably null |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm38706 |
A |
T |
6: 130,459,963 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
C |
17: 35,644,628 (GRCm39) |
Y139S |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,808,074 (GRCm39) |
D146G |
probably benign |
Het |
| Igkv4-53 |
A |
T |
6: 69,625,991 (GRCm39) |
Y59N |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,891 (GRCm39) |
M257V |
possibly damaging |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Klhl26 |
T |
A |
8: 70,904,404 (GRCm39) |
Y468F |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,357,950 (GRCm39) |
|
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,464,422 (GRCm39) |
T548A |
probably benign |
Het |
| Lct |
T |
A |
1: 128,228,073 (GRCm39) |
Q1140L |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,281,726 (GRCm39) |
N3882H |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,657,852 (GRCm39) |
I1126T |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,722,682 (GRCm39) |
S399P |
probably damaging |
Het |
| Med16 |
A |
G |
10: 79,731,243 (GRCm39) |
C825R |
probably damaging |
Het |
| Mtx3 |
C |
T |
13: 92,984,095 (GRCm39) |
P124L |
probably damaging |
Het |
| Nabp2 |
C |
T |
10: 128,245,555 (GRCm39) |
|
probably benign |
Het |
| Or5b113 |
T |
A |
19: 13,342,515 (GRCm39) |
H174Q |
possibly damaging |
Het |
| Pak4 |
A |
T |
7: 28,264,005 (GRCm39) |
S244T |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,869,900 (GRCm39) |
V307I |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,233 (GRCm39) |
D506G |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,755,481 (GRCm39) |
V26A |
probably damaging |
Het |
| Ppp2r3c |
A |
T |
12: 55,344,617 (GRCm39) |
M117K |
probably benign |
Het |
| Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
| Pspc1 |
C |
T |
14: 57,015,529 (GRCm39) |
E30K |
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,990,231 (GRCm39) |
S448G |
possibly damaging |
Het |
| Rnf34 |
C |
T |
5: 123,004,952 (GRCm39) |
Q241* |
probably null |
Het |
| Sgta |
A |
T |
10: 80,883,522 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Siglech |
A |
G |
7: 55,418,293 (GRCm39) |
N87S |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,094,113 (GRCm39) |
I392T |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,841,174 (GRCm39) |
M21K |
probably benign |
Het |
| Sugp1 |
C |
T |
8: 70,522,799 (GRCm39) |
R500C |
probably damaging |
Het |
| Tasp1 |
T |
C |
2: 139,899,339 (GRCm39) |
K5E |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,813,668 (GRCm39) |
V235I |
possibly damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,346 (GRCm39) |
N413I |
probably damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Zfp60 |
A |
G |
7: 27,447,758 (GRCm39) |
Y142C |
probably benign |
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 |
|
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 |
|
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'- TGGAATACAAACCCAGTCACTG -3'
(R):5'- TCCACAAAGGAGGTTTCCCC -3'
Sequencing Primer
(F):5'- AGTCACTGCCGCCATTC -3'
(R):5'- GGAGTACAAAATACGATTGATGTCCC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation