Incidental Mutation 'R0559:Adat1'
| ID |
45793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adat1
|
| Ensembl Gene |
ENSMUSG00000031949 |
| Gene Name |
adenosine deaminase, tRNA-specific 1 |
| Synonyms |
mADAT1 |
| MMRRC Submission |
038751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R0559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
112693540-112718934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112709062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 254
(T254A)
|
| 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: T254A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034427
Gene: ENSMUSG00000031949
AA Change: T254A
| Domain | Start | End | E-Value | Type |
|---|
|
ADEAMc
|
2 |
499 |
4.19e-176 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120457
AA Change: T254A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113201
Gene: ENSMUSG00000031949
AA Change: T254A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deamin
|
63 |
354 |
8.1e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139820
AA Change: T254A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117279
Gene: ENSMUSG00000031949
AA Change: T254A
| Domain | Start | End | E-Value | Type |
|---|
|
ADEAMc
|
2 |
453 |
1e-141 |
SMART |
|
| Meta Mutation Damage Score |
0.4096 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (34/35) |
| 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 |
|---|
| Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
| Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
| Arl5b |
T |
C |
2: 15,077,998 (GRCm39) |
Y108H |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,892,833 (GRCm39) |
K785E |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
| Fbxl19 |
G |
T |
7: 127,349,390 (GRCm39) |
W160L |
possibly damaging |
Het |
| H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,176,053 (GRCm39) |
V626A |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,369 (GRCm39) |
K34R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
| Olfml2a |
T |
C |
2: 38,849,832 (GRCm39) |
I516T |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
| Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
| Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
| Plekhh3 |
C |
T |
11: 101,055,592 (GRCm39) |
E483K |
possibly damaging |
Het |
| Ptx4 |
C |
T |
17: 25,342,082 (GRCm39) |
Q186* |
probably null |
Het |
| Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
| Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
| Srl |
G |
A |
16: 4,314,842 (GRCm39) |
P267S |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
| Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,021,985 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACATTCCACCTTGCCATCTTG -3'
(R):5'- TCAGAAGTTGGGCCAACAACTCAC -3'
Sequencing Primer
(F):5'- ACCTTGCCATCTTGTCACTG -3'
(R):5'- CCAGTCCTGTAGCCAAGAAGATG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation