Incidental Mutation 'IGL01810:Aarsd1'
| ID |
155821 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aarsd1
|
| Ensembl Gene |
ENSMUSG00000075528 |
| Gene Name |
alanyl-tRNA synthetase domain containing 1 |
| Synonyms |
2310044P18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.573)
|
| Stock # |
IGL01810
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101297665-101308441 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 101308185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 10
(Y10*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070395]
[ENSMUST00000093933]
[ENSMUST00000103102]
[ENSMUST00000107252]
[ENSMUST00000107257]
[ENSMUST00000107259]
|
| AlphaFold |
Q3THG9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070395
AA Change: Y10*
|
| SMART Domains |
Protein: ENSMUSP00000067912
Gene: ENSMUSG00000075528
AA Change: Y10*
| 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: ENSMUST00000093933
|
| SMART Domains |
Protein: ENSMUSP00000091465
Gene: ENSMUSG00000097487
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CS
|
6 |
80 |
8.7e-9 |
PFAM |
|
| 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 benign
Transcript: ENSMUST00000107257
|
| SMART Domains |
Protein: ENSMUSP00000102878
Gene: ENSMUSG00000097239
| 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 benign
Transcript: ENSMUST00000107259
|
| SMART Domains |
Protein: ENSMUSP00000102880
Gene: ENSMUSG00000097239
| 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: ENSMUST00000185077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149706
|
| SMART Domains |
Protein: ENSMUSP00000116399
Gene: ENSMUSG00000097487
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ejfa_
|
2 |
41 |
6e-11 |
SMART |
|
PDB:1EJF|B
|
2 |
56 |
2e-13 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
C |
A |
6: 23,107,633 (GRCm39) |
Q383H |
probably damaging |
Het |
| Bag1 |
T |
C |
4: 40,936,657 (GRCm39) |
D333G |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,793,425 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,143,868 (GRCm39) |
A519S |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,841,903 (GRCm39) |
V726A |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,374,638 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,717,788 (GRCm39) |
D595G |
possibly damaging |
Het |
| Ercc2 |
G |
T |
7: 19,127,374 (GRCm39) |
R340L |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,206,640 (GRCm39) |
T35A |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,803,581 (GRCm39) |
Y525H |
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,795 (GRCm39) |
Q309R |
probably benign |
Het |
| Gm5263 |
T |
C |
1: 146,296,292 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
A |
C |
19: 23,653,751 (GRCm39) |
R180S |
probably damaging |
Het |
| Gpr182 |
C |
A |
10: 127,586,733 (GRCm39) |
V73F |
probably damaging |
Het |
| Gramd1b |
C |
T |
9: 40,227,069 (GRCm39) |
R179H |
probably damaging |
Het |
| Hk1 |
C |
T |
10: 62,188,884 (GRCm39) |
A10T |
probably benign |
Het |
| Hmgn3 |
C |
A |
9: 82,992,437 (GRCm39) |
|
probably benign |
Het |
| Il1b |
C |
T |
2: 129,211,649 (GRCm39) |
E24K |
probably damaging |
Het |
| Itgb6 |
G |
T |
2: 60,458,329 (GRCm39) |
Q475K |
probably benign |
Het |
| Lrrc74b |
A |
G |
16: 17,363,422 (GRCm39) |
S368P |
probably benign |
Het |
| Mfsd2b |
T |
C |
12: 4,916,469 (GRCm39) |
T234A |
possibly damaging |
Het |
| Muc6 |
A |
T |
7: 141,237,327 (GRCm39) |
Y270N |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,424,603 (GRCm39) |
|
probably benign |
Het |
| Or4b13 |
A |
T |
2: 90,082,476 (GRCm39) |
Y285* |
probably null |
Het |
| Pear1 |
G |
A |
3: 87,659,608 (GRCm39) |
T742I |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,493,491 (GRCm39) |
V238I |
probably benign |
Het |
| Pira2 |
A |
G |
7: 3,847,611 (GRCm39) |
L26P |
probably damaging |
Het |
| Pot1b |
A |
G |
17: 55,969,521 (GRCm39) |
V549A |
possibly damaging |
Het |
| Prdm16 |
T |
C |
4: 154,432,384 (GRCm39) |
Y295C |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,058,744 (GRCm39) |
|
probably benign |
Het |
| Rap1gap |
A |
T |
4: 137,443,466 (GRCm39) |
M145L |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,440,388 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
T |
C |
3: 146,133,765 (GRCm39) |
I258T |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,565 (GRCm39) |
Y1941H |
possibly damaging |
Het |
| Stxbp3 |
T |
C |
3: 108,707,468 (GRCm39) |
E420G |
probably benign |
Het |
| Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
| Tpx2 |
G |
T |
2: 152,726,155 (GRCm39) |
Q373H |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,557,352 (GRCm39) |
R29914Q |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,833,809 (GRCm39) |
|
probably null |
Het |
| Usp18 |
G |
A |
6: 121,230,730 (GRCm39) |
G53D |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,863,062 (GRCm39) |
H3026L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,461,888 (GRCm39) |
E1097G |
unknown |
Het |
|
| Other mutations in Aarsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R2382:Aarsd1
|
UTSW |
11 |
101,304,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation