Incidental Mutation 'R6907:Adat1'
| ID |
538824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adat1
|
| Ensembl Gene |
ENSMUSG00000031949 |
| Gene Name |
adenosine deaminase, tRNA-specific 1 |
| Synonyms |
mADAT1 |
| MMRRC Submission |
044999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6907 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
112693540-112718934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112698793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 344
(I344V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034427]
[ENSMUST00000120457]
[ENSMUST00000139820]
|
| AlphaFold |
Q9JHI2 |
| Predicted Effect |
silent
Transcript: ENSMUST00000034427
|
| SMART Domains |
Protein: ENSMUSP00000034427
Gene: ENSMUSG00000031949
| Domain | Start | End | E-Value | Type |
|---|
|
ADEAMc
|
2 |
499 |
4.19e-176 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120457
AA Change: I344V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113201
Gene: ENSMUSG00000031949
AA Change: I344V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deamin
|
63 |
354 |
8.1e-86 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000139820
|
| SMART Domains |
Protein: ENSMUSP00000117279
Gene: ENSMUSG00000031949
| Domain | Start | End | E-Value | Type |
|---|
|
ADEAMc
|
2 |
453 |
1e-141 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmper |
A |
T |
9: 23,310,868 (GRCm39) |
Q434L |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,969 (GRCm39) |
Y152C |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,159,278 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,599,505 (GRCm39) |
D238G |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,671,671 (GRCm39) |
T598A |
possibly damaging |
Het |
| Ctr9 |
C |
T |
7: 110,629,449 (GRCm39) |
P25L |
probably damaging |
Het |
| Entpd5 |
T |
C |
12: 84,424,127 (GRCm39) |
T409A |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,363,957 (GRCm39) |
V137A |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,443 (GRCm39) |
G168R |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,683,067 (GRCm39) |
N248S |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,939,888 (GRCm39) |
Y1561N |
probably damaging |
Het |
| Mef2c |
A |
G |
13: 83,802,730 (GRCm39) |
D227G |
probably benign |
Het |
| Myh2 |
C |
T |
11: 67,084,567 (GRCm39) |
T1702M |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,437 (GRCm39) |
N263K |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,636 (GRCm39) |
L373P |
probably damaging |
Het |
| Nob1 |
C |
T |
8: 108,142,860 (GRCm39) |
V274M |
possibly damaging |
Het |
| Ntng2 |
A |
G |
2: 29,118,218 (GRCm39) |
C77R |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or10ad1c |
T |
C |
15: 98,085,649 (GRCm39) |
N10D |
probably damaging |
Het |
| Or5p55 |
T |
C |
7: 107,567,459 (GRCm39) |
L285P |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,876,471 (GRCm39) |
W9R |
possibly damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,064,124 (GRCm39) |
T263A |
probably benign |
Het |
| Per3 |
C |
T |
4: 151,128,015 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
A |
G |
8: 125,107,021 (GRCm39) |
F265L |
probably damaging |
Het |
| Ppm1k |
T |
G |
6: 57,487,755 (GRCm39) |
E356A |
probably benign |
Het |
| Ptgfr |
G |
T |
3: 151,540,938 (GRCm39) |
T190K |
possibly damaging |
Het |
| Sec24a |
A |
G |
11: 51,603,103 (GRCm39) |
Y782H |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,301,295 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,090,323 (GRCm39) |
T253I |
possibly damaging |
Het |
| Tcf4 |
C |
T |
18: 69,785,484 (GRCm39) |
T207M |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,700,897 (GRCm39) |
N1203S |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,304,917 (GRCm39) |
S5T |
probably damaging |
Het |
| Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,655,751 (GRCm39) |
S38P |
probably benign |
Het |
| Vrk1 |
G |
T |
12: 106,041,291 (GRCm39) |
Q395H |
possibly damaging |
Het |
| Vwa3a |
G |
T |
7: 120,391,804 (GRCm39) |
|
probably benign |
Het |
| Wdsub1 |
C |
T |
2: 59,692,028 (GRCm39) |
V335I |
possibly damaging |
Het |
|
| Other mutations in Adat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01754:Adat1
|
APN |
8 |
112,708,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Adat1
|
UTSW |
8 |
112,713,840 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0559:Adat1
|
UTSW |
8 |
112,709,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Adat1
|
UTSW |
8 |
112,713,867 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1972:Adat1
|
UTSW |
8 |
112,717,050 (GRCm39) |
unclassified |
probably benign |
|
|
R2217:Adat1
|
UTSW |
8 |
112,709,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3807:Adat1
|
UTSW |
8 |
112,717,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4497:Adat1
|
UTSW |
8 |
112,705,994 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4553:Adat1
|
UTSW |
8 |
112,716,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5702:Adat1
|
UTSW |
8 |
112,704,704 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5960:Adat1
|
UTSW |
8 |
112,709,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6380:Adat1
|
UTSW |
8 |
112,704,704 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6538:Adat1
|
UTSW |
8 |
112,695,094 (GRCm39) |
missense |
probably benign |
|
|
R7022:Adat1
|
UTSW |
8 |
112,716,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7440:Adat1
|
UTSW |
8 |
112,716,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7606:Adat1
|
UTSW |
8 |
112,709,236 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9581:Adat1
|
UTSW |
8 |
112,705,946 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9592:Adat1
|
UTSW |
8 |
112,709,314 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTCTGGGTAAGCAGTAAGC -3'
(R):5'- AGACTGCGTCTCAGCTGTAG -3'
Sequencing Primer
(F):5'- GCAGTAAGCACCCACTGG -3'
(R):5'- TCTCAGCTGTAGGGTCTCAGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation