Incidental Mutation 'IGL01754:Adat1'
| ID |
153425 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adat1
|
| Ensembl Gene |
ENSMUSG00000031949 |
| Gene Name |
adenosine deaminase, tRNA-specific 1 |
| Synonyms |
mADAT1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
IGL01754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
112693540-112718934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112708942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 294
(C294R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034427]
[ENSMUST00000120457]
[ENSMUST00000139820]
|
| AlphaFold |
Q9JHI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034427
AA Change: C294R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034427
Gene: ENSMUSG00000031949
AA Change: C294R
| Domain | Start | End | E-Value | Type |
|---|
|
ADEAMc
|
2 |
499 |
4.19e-176 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120457
AA Change: C294R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113201
Gene: ENSMUSG00000031949
AA Change: C294R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deamin
|
63 |
354 |
8.1e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139820
AA Change: C294R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117279
Gene: ENSMUSG00000031949
AA Change: C294R
| Domain | Start | End | E-Value | Type |
|---|
|
ADEAMc
|
2 |
453 |
1e-141 |
SMART |
|
| 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 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
A |
G |
18: 61,870,565 (GRCm39) |
|
probably null |
Het |
| Art2a |
C |
T |
7: 101,204,059 (GRCm39) |
V160M |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,366,795 (GRCm39) |
|
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,754,883 (GRCm39) |
I231T |
probably damaging |
Het |
| Efr3a |
C |
A |
15: 65,726,569 (GRCm39) |
A554E |
probably damaging |
Het |
| Fads2b |
T |
C |
2: 85,348,899 (GRCm39) |
Q71R |
probably damaging |
Het |
| Fam3b |
T |
C |
16: 97,277,607 (GRCm39) |
T76A |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm4454 |
T |
C |
7: 38,268,386 (GRCm39) |
T253A |
probably damaging |
Het |
| Gpsm2 |
C |
T |
3: 108,610,361 (GRCm39) |
R33H |
probably damaging |
Het |
| Igkv5-39 |
A |
G |
6: 69,877,661 (GRCm39) |
S12P |
probably damaging |
Het |
| Itga10 |
G |
A |
3: 96,564,091 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
T |
16: 22,898,364 (GRCm39) |
D407V |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,901,432 (GRCm39) |
D579G |
probably damaging |
Het |
| Plcg1 |
C |
A |
2: 160,603,353 (GRCm39) |
Q1175K |
probably damaging |
Het |
| Scml4 |
T |
A |
10: 42,833,746 (GRCm39) |
|
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 75,906,449 (GRCm39) |
L390P |
probably damaging |
Het |
| Tectb |
A |
G |
19: 55,172,445 (GRCm39) |
Q164R |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,623 (GRCm39) |
Q94* |
probably null |
Het |
| Usp17ld |
A |
C |
7: 102,899,870 (GRCm39) |
V354G |
probably benign |
Het |
| Usp43 |
T |
C |
11: 67,747,007 (GRCm39) |
H895R |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,781,120 (GRCm39) |
L442P |
probably damaging |
Het |
|
| Other mutations in Adat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R6907:Adat1
|
UTSW |
8 |
112,698,793 (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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation