Incidental Mutation 'R2382:Aarsd1'
ID |
247576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aarsd1
|
Ensembl Gene |
ENSMUSG00000075528 |
Gene Name |
alanyl-tRNA synthetase domain containing 1 |
Synonyms |
2310044P18Rik |
MMRRC Submission |
040357-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.573)
|
Stock # |
R2382 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101297665-101308441 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 101304904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 64
(I64F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067912
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070395]
[ENSMUST00000103102]
[ENSMUST00000107252]
[ENSMUST00000107257]
[ENSMUST00000107259]
|
AlphaFold |
Q3THG9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070395
AA Change: I64F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000067912 Gene: ENSMUSG00000075528 AA Change: I64F
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_2c
|
8 |
101 |
1.5e-8 |
PFAM |
tRNA_SAD
|
196 |
239 |
1.43e-6 |
SMART |
low complexity region
|
276 |
293 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103102
|
SMART Domains |
Protein: ENSMUSP00000099391 Gene: ENSMUSG00000097487
Domain | Start | End | E-Value | Type |
Pfam:CS
|
6 |
80 |
7.3e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107252
|
SMART Domains |
Protein: ENSMUSP00000102873 Gene: ENSMUSG00000097487
Domain | Start | End | E-Value | Type |
Pfam:CS
|
6 |
80 |
9.6e-9 |
PFAM |
low complexity region
|
141 |
149 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107257
AA Change: I177F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102878 Gene: ENSMUSG00000097239 AA Change: I177F
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_2c
|
91 |
214 |
1.4e-8 |
PFAM |
tRNA_SAD
|
309 |
352 |
1.43e-6 |
SMART |
low complexity region
|
389 |
406 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107259
AA Change: I195F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102880 Gene: ENSMUSG00000097239 AA Change: I195F
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_2c
|
109 |
232 |
3.4e-9 |
PFAM |
tRNA_SAD
|
327 |
370 |
1.43e-6 |
SMART |
low complexity region
|
407 |
424 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125472
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133240
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189049
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Agrn |
T |
A |
4: 156,260,973 (GRCm39) |
D574V |
probably damaging |
Het |
Atg4b |
T |
C |
1: 93,712,564 (GRCm39) |
C16R |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,841,886 (GRCm39) |
L1515Q |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,905,342 (GRCm39) |
V368E |
probably benign |
Het |
Clk1 |
A |
T |
1: 58,460,448 (GRCm39) |
S61T |
probably benign |
Het |
Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
Dner |
C |
G |
1: 84,348,544 (GRCm39) |
E719Q |
probably damaging |
Het |
E030025P04Rik |
G |
A |
11: 109,034,880 (GRCm39) |
Q3* |
probably null |
Het |
Eif4g2 |
T |
A |
7: 110,674,253 (GRCm39) |
T613S |
probably benign |
Het |
Fn1 |
C |
G |
1: 71,687,278 (GRCm39) |
G193A |
probably damaging |
Het |
Ftdc1 |
T |
C |
16: 58,436,239 (GRCm39) |
|
probably null |
Het |
Gls2 |
A |
G |
10: 128,039,711 (GRCm39) |
E286G |
probably damaging |
Het |
Gm21286 |
A |
G |
4: 60,794,283 (GRCm39) |
|
noncoding transcript |
Het |
Hoxa13 |
A |
T |
6: 52,236,125 (GRCm39) |
V304D |
probably damaging |
Het |
Hpse2 |
A |
T |
19: 42,920,061 (GRCm39) |
M346K |
probably benign |
Het |
Igkv1-99 |
A |
T |
6: 68,519,481 (GRCm39) |
|
probably benign |
Het |
Kcnq2 |
A |
G |
2: 180,753,900 (GRCm39) |
Y237H |
probably damaging |
Het |
Kmt2a |
T |
A |
9: 44,732,207 (GRCm39) |
|
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,898,411 (GRCm39) |
D180G |
probably damaging |
Het |
Macf1 |
G |
A |
4: 123,268,625 (GRCm39) |
T4682M |
probably damaging |
Het |
Mfsd6 |
T |
A |
1: 52,747,569 (GRCm39) |
H432L |
probably benign |
Het |
Mgat5b |
T |
A |
11: 116,810,322 (GRCm39) |
D7E |
probably damaging |
Het |
Msh6 |
G |
A |
17: 88,292,159 (GRCm39) |
V305I |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,363,793 (GRCm39) |
H880Q |
probably benign |
Het |
Or2g25 |
A |
C |
17: 37,970,822 (GRCm39) |
V134G |
probably benign |
Het |
Or7a37 |
G |
A |
10: 78,805,990 (GRCm39) |
C169Y |
probably damaging |
Het |
Or7a41 |
A |
T |
10: 78,870,968 (GRCm39) |
I113F |
possibly damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Pnliprp2 |
A |
G |
19: 58,757,062 (GRCm39) |
N308S |
probably benign |
Het |
Ppwd1 |
T |
C |
13: 104,343,621 (GRCm39) |
T595A |
probably damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,277 (GRCm39) |
T738A |
possibly damaging |
Het |
Rab11fip3 |
T |
A |
17: 26,209,841 (GRCm39) |
K1062* |
probably null |
Het |
Reep3 |
A |
T |
10: 66,932,569 (GRCm39) |
V11E |
possibly damaging |
Het |
Slco1a8 |
G |
A |
6: 141,936,206 (GRCm39) |
S293F |
probably benign |
Het |
Slco3a1 |
T |
C |
7: 73,996,524 (GRCm39) |
D294G |
probably benign |
Het |
Sycp2 |
A |
G |
2: 178,019,811 (GRCm39) |
|
probably null |
Het |
Zfp292 |
A |
G |
4: 34,806,426 (GRCm39) |
V2206A |
possibly damaging |
Het |
|
Other mutations in Aarsd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01810:Aarsd1
|
APN |
11 |
101,308,185 (GRCm39) |
nonsense |
probably null |
|
R0462:Aarsd1
|
UTSW |
11 |
101,304,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Aarsd1
|
UTSW |
11 |
101,302,227 (GRCm39) |
missense |
probably benign |
0.33 |
R1886:Aarsd1
|
UTSW |
11 |
101,302,227 (GRCm39) |
missense |
probably benign |
0.33 |
R1909:Aarsd1
|
UTSW |
11 |
101,301,057 (GRCm39) |
splice site |
probably null |
|
R3820:Aarsd1
|
UTSW |
11 |
101,301,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R3821:Aarsd1
|
UTSW |
11 |
101,301,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R3822:Aarsd1
|
UTSW |
11 |
101,301,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R4034:Aarsd1
|
UTSW |
11 |
101,302,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R4701:Aarsd1
|
UTSW |
11 |
101,301,986 (GRCm39) |
missense |
probably benign |
0.00 |
R5204:Aarsd1
|
UTSW |
11 |
101,297,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R5327:Aarsd1
|
UTSW |
11 |
101,301,203 (GRCm39) |
missense |
probably benign |
0.30 |
R5554:Aarsd1
|
UTSW |
11 |
101,304,807 (GRCm39) |
missense |
probably benign |
0.01 |
R7342:Aarsd1
|
UTSW |
11 |
101,308,018 (GRCm39) |
missense |
probably benign |
0.00 |
R7574:Aarsd1
|
UTSW |
11 |
101,301,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R7851:Aarsd1
|
UTSW |
11 |
101,300,838 (GRCm39) |
splice site |
probably null |
|
R8306:Aarsd1
|
UTSW |
11 |
101,302,194 (GRCm39) |
missense |
probably damaging |
0.97 |
R8762:Aarsd1
|
UTSW |
11 |
101,301,226 (GRCm39) |
missense |
probably benign |
0.02 |
R9449:Aarsd1
|
UTSW |
11 |
101,301,597 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTGTGACTCGGCTATTCACG -3'
(R):5'- CTGTTCTGCCCTGAAAACACC -3'
Sequencing Primer
(F):5'- GCTATTCACGGCCCGTC -3'
(R):5'- TGTTCTGCCCTGAAAACACCAAAAG -3'
|
Posted On |
2014-11-11 |