Incidental Mutation 'R4693:Adar'
ID |
355015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adar
|
Ensembl Gene |
ENSMUSG00000027951 |
Gene Name |
adenosine deaminase, RNA-specific |
Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
MMRRC Submission |
041944-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4693 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89643247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 128
(H128L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029563]
[ENSMUST00000098924]
[ENSMUST00000107405]
[ENSMUST00000118341]
[ENSMUST00000121094]
|
AlphaFold |
Q99MU3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029563
AA Change: H376L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029563 Gene: ENSMUSG00000027951 AA Change: H376L
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 damaging
Transcript: ENSMUST00000098924
AA Change: H128L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000096525 Gene: ENSMUSG00000027951 AA Change: H128L
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: H376L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103028 Gene: ENSMUSG00000027951 AA Change: H376L
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (79/79) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
T |
C |
17: 85,004,125 (GRCm39) |
Y478H |
probably damaging |
Het |
Angptl6 |
G |
T |
9: 20,786,598 (GRCm39) |
D349E |
probably damaging |
Het |
Anxa9 |
T |
C |
3: 95,204,667 (GRCm39) |
T286A |
probably benign |
Het |
Apobr |
A |
G |
7: 126,186,019 (GRCm39) |
N510S |
probably damaging |
Het |
Atoh7 |
G |
T |
10: 62,936,275 (GRCm39) |
R114L |
probably benign |
Het |
Bank1 |
C |
G |
3: 135,953,437 (GRCm39) |
R106P |
probably damaging |
Het |
Best1 |
C |
T |
19: 9,974,499 (GRCm39) |
G15D |
probably damaging |
Het |
Best2 |
A |
T |
8: 85,737,832 (GRCm39) |
F188I |
probably damaging |
Het |
Ccdc88a |
T |
C |
11: 29,432,241 (GRCm39) |
Y344H |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,814,371 (GRCm39) |
L547P |
unknown |
Het |
Cyp19a1 |
A |
T |
9: 54,080,617 (GRCm39) |
S247T |
possibly damaging |
Het |
Cyp26a1 |
T |
C |
19: 37,686,925 (GRCm39) |
S126P |
probably benign |
Het |
Dab1 |
G |
T |
4: 104,536,750 (GRCm39) |
C180F |
probably damaging |
Het |
Dclk2 |
T |
C |
3: 86,722,400 (GRCm39) |
D412G |
possibly damaging |
Het |
Dspp |
A |
T |
5: 104,325,928 (GRCm39) |
S764C |
unknown |
Het |
Dync1li1 |
C |
A |
9: 114,535,166 (GRCm39) |
D143E |
probably damaging |
Het |
Esm1 |
A |
T |
13: 113,346,594 (GRCm39) |
D73V |
probably damaging |
Het |
Etfdh |
A |
T |
3: 79,513,110 (GRCm39) |
V431E |
probably damaging |
Het |
Fam83c |
C |
T |
2: 155,672,154 (GRCm39) |
R427H |
probably damaging |
Het |
Galnt9 |
A |
G |
5: 110,763,375 (GRCm39) |
Y93C |
probably damaging |
Het |
Gm6818 |
G |
A |
7: 38,100,126 (GRCm39) |
|
noncoding transcript |
Het |
Gosr2 |
A |
G |
11: 103,574,755 (GRCm39) |
S114P |
probably benign |
Het |
Grip1 |
G |
A |
10: 119,836,459 (GRCm39) |
V444I |
probably benign |
Het |
Gvin-ps3 |
T |
G |
7: 105,681,585 (GRCm39) |
|
noncoding transcript |
Het |
Haus4 |
G |
T |
14: 54,787,256 (GRCm39) |
A67E |
probably benign |
Het |
Hectd2 |
T |
A |
19: 36,591,738 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,501,695 (GRCm39) |
Y911H |
probably benign |
Het |
Lim2 |
T |
C |
7: 43,080,105 (GRCm39) |
Y31H |
probably damaging |
Het |
Lims2 |
G |
A |
18: 32,077,552 (GRCm39) |
R101H |
probably benign |
Het |
Lrrc2 |
T |
A |
9: 110,799,161 (GRCm39) |
M236K |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,510,686 (GRCm39) |
E427D |
unknown |
Het |
Lrrk1 |
T |
C |
7: 65,912,235 (GRCm39) |
Y1775C |
probably damaging |
Het |
Mdga2 |
A |
G |
12: 66,844,407 (GRCm39) |
V197A |
possibly damaging |
Het |
Mfhas1 |
T |
A |
8: 36,056,329 (GRCm39) |
L268Q |
probably damaging |
Het |
Mlh1 |
A |
G |
9: 111,084,726 (GRCm39) |
I216T |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,234,528 (GRCm39) |
C1016Y |
probably benign |
Het |
Mvp |
C |
A |
7: 126,597,500 (GRCm39) |
V168F |
probably damaging |
Het |
Mybphl |
A |
G |
3: 108,282,494 (GRCm39) |
T176A |
probably benign |
Het |
Myt1 |
T |
A |
2: 181,437,532 (GRCm39) |
L81Q |
probably damaging |
Het |
Ncbp3 |
T |
C |
11: 72,966,503 (GRCm39) |
L453S |
probably benign |
Het |
Or4c1 |
T |
A |
2: 89,133,621 (GRCm39) |
E105V |
probably benign |
Het |
Or4c114 |
T |
C |
2: 88,905,412 (GRCm39) |
T8A |
possibly damaging |
Het |
Or55b10 |
T |
A |
7: 102,143,659 (GRCm39) |
I108F |
probably damaging |
Het |
Or5b125-ps1 |
C |
A |
19: 13,056,226 (GRCm39) |
|
noncoding transcript |
Het |
Or5l14 |
A |
T |
2: 87,793,053 (GRCm39) |
F61Y |
probably benign |
Het |
Pak4 |
A |
T |
7: 28,263,674 (GRCm39) |
M354K |
probably damaging |
Het |
Pax3 |
T |
C |
1: 78,173,383 (GRCm39) |
T2A |
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,770,960 (GRCm39) |
D1146G |
probably damaging |
Het |
Pcyt1a |
T |
C |
16: 32,289,042 (GRCm39) |
|
probably benign |
Het |
Pfkp |
C |
T |
13: 6,650,671 (GRCm39) |
G467D |
possibly damaging |
Het |
Plin4 |
C |
A |
17: 56,410,762 (GRCm39) |
G1090C |
probably damaging |
Het |
Pth1r |
A |
G |
9: 110,560,692 (GRCm39) |
V25A |
probably damaging |
Het |
Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
Ptprf |
T |
A |
4: 118,068,219 (GRCm39) |
E1772D |
probably benign |
Het |
Sall2 |
T |
C |
14: 52,551,935 (GRCm39) |
H420R |
probably damaging |
Het |
Sbds |
G |
A |
5: 130,279,816 (GRCm39) |
R63W |
probably damaging |
Het |
Sccpdh |
A |
G |
1: 179,495,975 (GRCm39) |
T19A |
possibly damaging |
Het |
Scn8a |
A |
T |
15: 100,913,572 (GRCm39) |
D988V |
probably damaging |
Het |
Slamf6 |
C |
T |
1: 171,761,680 (GRCm39) |
Q34* |
probably null |
Het |
Slc22a6 |
T |
A |
19: 8,601,016 (GRCm39) |
I403N |
probably damaging |
Het |
Sox5 |
T |
C |
6: 143,781,042 (GRCm39) |
Y574C |
probably damaging |
Het |
Sptbn5 |
T |
A |
2: 119,889,897 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
A |
7: 127,137,716 (GRCm39) |
V1022E |
probably damaging |
Het |
Tbx3 |
G |
A |
5: 119,815,635 (GRCm39) |
E292K |
possibly damaging |
Het |
Tbx5 |
A |
T |
5: 119,979,964 (GRCm39) |
H170L |
probably damaging |
Het |
Tcf12 |
A |
T |
9: 71,776,249 (GRCm39) |
|
probably benign |
Het |
Themis |
G |
A |
10: 28,658,647 (GRCm39) |
R558H |
probably damaging |
Het |
Tiam1 |
T |
C |
16: 89,640,170 (GRCm39) |
E849G |
possibly damaging |
Het |
Vav3 |
A |
G |
3: 109,470,534 (GRCm39) |
|
probably benign |
Het |
Vmn2r90 |
T |
A |
17: 17,953,956 (GRCm39) |
C707S |
possibly damaging |
Het |
Vmn2r96 |
T |
G |
17: 18,803,270 (GRCm39) |
N201K |
probably benign |
Het |
Zfp148 |
C |
T |
16: 33,288,505 (GRCm39) |
R207C |
probably damaging |
Het |
Zfp648 |
G |
T |
1: 154,080,152 (GRCm39) |
A104S |
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 |
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'- AGTACACACAGTGCTCCTGC -3'
(R):5'- AGCTGGCACTCAGTTAGCTTC -3'
Sequencing Primer
(F):5'- ACAGTGCTCCTGCCCCTAC -3'
(R):5'- AGCTTCTTGTAGGGTGAACAC -3'
|
Posted On |
2015-10-21 |