Incidental Mutation 'IGL01743:Adar'
ID |
152933 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adar
|
Ensembl Gene |
ENSMUSG00000027951 |
Gene Name |
adenosine deaminase, RNA-specific |
Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01743
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 89652747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 210
(Q210*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029563]
[ENSMUST00000098924]
[ENSMUST00000107405]
[ENSMUST00000118341]
[ENSMUST00000121094]
[ENSMUST00000200558]
|
AlphaFold |
Q99MU3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029563
AA Change: Q728*
|
SMART Domains |
Protein: ENSMUSP00000029563 Gene: ENSMUSG00000027951 AA Change: Q728*
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 null
Transcript: ENSMUST00000098924
AA Change: Q480*
|
SMART Domains |
Protein: ENSMUSP00000096525 Gene: ENSMUSG00000027951 AA Change: Q480*
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 null
Transcript: ENSMUST00000107405
AA Change: Q728*
|
SMART Domains |
Protein: ENSMUSP00000103028 Gene: ENSMUSG00000027951 AA Change: Q728*
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 null
Transcript: ENSMUST00000118341
AA Change: Q210*
|
SMART Domains |
Protein: ENSMUSP00000113453 Gene: ENSMUSG00000027951 AA Change: Q210*
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 null
Transcript: ENSMUST00000121094
AA Change: Q210*
|
SMART Domains |
Protein: ENSMUSP00000112969 Gene: ENSMUSG00000027951 AA Change: Q210*
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: ENSMUST00000131030
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200558
|
SMART Domains |
Protein: ENSMUSP00000143441 Gene: ENSMUSG00000027950
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
29 |
234 |
1.5e-71 |
PFAM |
Pfam:Neur_chan_memb
|
241 |
454 |
4.8e-61 |
PFAM |
low complexity region
|
657 |
666 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
T |
7: 45,646,238 (GRCm39) |
N750K |
probably benign |
Het |
Ackr2 |
T |
C |
9: 121,738,566 (GRCm39) |
C314R |
probably benign |
Het |
Aifm1 |
A |
G |
X: 47,569,153 (GRCm39) |
|
probably benign |
Het |
Aldoa |
G |
T |
7: 126,395,875 (GRCm39) |
D198E |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 103,002,201 (GRCm39) |
|
probably benign |
Het |
Arhgef18 |
G |
T |
8: 3,414,697 (GRCm39) |
C25F |
probably benign |
Het |
Btnl1 |
T |
C |
17: 34,604,659 (GRCm39) |
I480T |
probably damaging |
Het |
Capn9 |
T |
C |
8: 125,318,508 (GRCm39) |
S125P |
probably benign |
Het |
Cd40lg |
T |
A |
X: 56,257,592 (GRCm39) |
Y26* |
probably null |
Het |
Cdc42bpg |
G |
T |
19: 6,359,853 (GRCm39) |
|
probably null |
Het |
Cdh10 |
T |
C |
15: 18,986,855 (GRCm39) |
L362P |
probably benign |
Het |
Dhx16 |
A |
G |
17: 36,199,000 (GRCm39) |
D782G |
probably damaging |
Het |
Dnajb14 |
G |
T |
3: 137,611,761 (GRCm39) |
V320L |
possibly damaging |
Het |
Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
Ercc6 |
T |
C |
14: 32,274,561 (GRCm39) |
V568A |
probably damaging |
Het |
Faf2 |
T |
C |
13: 54,789,311 (GRCm39) |
|
probably null |
Het |
Fbrsl1 |
C |
T |
5: 110,529,506 (GRCm39) |
V223M |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,351,598 (GRCm39) |
V282A |
probably damaging |
Het |
Fxr2 |
C |
T |
11: 69,543,448 (GRCm39) |
L650F |
possibly damaging |
Het |
Gabrq |
A |
G |
X: 71,880,448 (GRCm39) |
M314V |
probably benign |
Het |
Gnas |
T |
A |
2: 174,140,125 (GRCm39) |
Y157* |
probably null |
Het |
Gtf2i |
T |
C |
5: 134,315,747 (GRCm39) |
E175G |
probably damaging |
Het |
Gtf3c1 |
A |
C |
7: 125,262,587 (GRCm39) |
Y1091D |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,132,069 (GRCm39) |
Q345* |
probably null |
Het |
Hydin |
T |
C |
8: 111,319,408 (GRCm39) |
V4437A |
possibly damaging |
Het |
Idi2 |
T |
A |
13: 9,008,578 (GRCm39) |
L112Q |
probably damaging |
Het |
Ift80 |
C |
T |
3: 68,869,629 (GRCm39) |
V221M |
probably benign |
Het |
Il16 |
A |
G |
7: 83,301,507 (GRCm39) |
F205S |
probably benign |
Het |
Irf1 |
T |
A |
11: 53,665,277 (GRCm39) |
M218K |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,270,144 (GRCm39) |
N114S |
probably benign |
Het |
Itgae |
T |
C |
11: 73,002,585 (GRCm39) |
V114A |
probably benign |
Het |
Klhdc10 |
A |
G |
6: 30,441,933 (GRCm39) |
|
probably null |
Het |
Krt78 |
C |
A |
15: 101,859,333 (GRCm39) |
R288L |
probably benign |
Het |
Lars2 |
A |
T |
9: 123,282,313 (GRCm39) |
L632F |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,235,919 (GRCm39) |
D1220G |
probably damaging |
Het |
Msl1 |
C |
T |
11: 98,696,245 (GRCm39) |
T597I |
probably damaging |
Het |
Mtor |
T |
C |
4: 148,615,070 (GRCm39) |
|
probably benign |
Het |
Myo1b |
T |
C |
1: 51,821,179 (GRCm39) |
T435A |
probably damaging |
Het |
Neb |
A |
G |
2: 52,115,679 (GRCm39) |
Y4176H |
probably damaging |
Het |
Nxpe3 |
A |
G |
16: 55,670,128 (GRCm39) |
F326L |
probably benign |
Het |
Or13a21 |
T |
C |
7: 139,999,581 (GRCm39) |
Y35C |
probably damaging |
Het |
Or2ag1 |
A |
G |
7: 106,313,541 (GRCm39) |
S116P |
possibly damaging |
Het |
Pak5 |
T |
A |
2: 135,929,333 (GRCm39) |
R617W |
probably damaging |
Het |
Peak1 |
C |
A |
9: 56,166,486 (GRCm39) |
V481L |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,281,267 (GRCm39) |
|
probably benign |
Het |
Pmm1 |
C |
T |
15: 81,844,987 (GRCm39) |
E6K |
probably benign |
Het |
Ppp2r5c |
G |
A |
12: 110,546,868 (GRCm39) |
V454M |
probably benign |
Het |
Ptprf |
C |
T |
4: 118,106,095 (GRCm39) |
|
probably null |
Het |
Pygm |
G |
A |
19: 6,443,024 (GRCm39) |
|
probably null |
Het |
Rimbp2 |
T |
A |
5: 128,874,912 (GRCm39) |
|
probably benign |
Het |
Rps6ka5 |
A |
T |
12: 100,541,892 (GRCm39) |
|
probably null |
Het |
Scarb2 |
A |
G |
5: 92,608,662 (GRCm39) |
V188A |
probably benign |
Het |
Sfrp1 |
T |
A |
8: 23,902,354 (GRCm39) |
|
probably benign |
Het |
Siglec15 |
T |
A |
18: 78,086,820 (GRCm39) |
|
probably benign |
Het |
Smgc |
A |
G |
15: 91,738,796 (GRCm39) |
I485V |
probably benign |
Het |
Tas2r124 |
A |
G |
6: 132,731,798 (GRCm39) |
I36V |
probably benign |
Het |
Trmt10b |
G |
T |
4: 45,305,879 (GRCm39) |
G185W |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,727,352 (GRCm39) |
N798S |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,619,896 (GRCm39) |
T15924N |
probably damaging |
Het |
Utrn |
A |
T |
10: 12,587,301 (GRCm39) |
Y912N |
possibly damaging |
Het |
Vmn2r113 |
T |
C |
17: 23,177,285 (GRCm39) |
Y690H |
probably benign |
Het |
Vmn2r51 |
T |
C |
7: 9,834,154 (GRCm39) |
R295G |
probably damaging |
Het |
Vpreb3 |
A |
G |
10: 75,784,231 (GRCm39) |
T14A |
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 |
|
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 |
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 |
|
Posted On |
2014-02-04 |