Incidental Mutation 'R4034:Aarsd1'
| ID |
313635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aarsd1
|
| Ensembl Gene |
ENSMUSG00000075528 |
| Gene Name |
alanyl-tRNA synthetase domain containing 1 |
| Synonyms |
2310044P18Rik |
| MMRRC Submission |
040962-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.573)
|
| Stock # |
R4034 (G1)
|
| Quality Score |
135 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101297665-101308441 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101302158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 301
(V301I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070395]
[ENSMUST00000107257]
[ENSMUST00000107259]
|
| AlphaFold |
Q3THG9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070395
AA Change: V170I
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067912
Gene: ENSMUSG00000075528
AA Change: V170I
| 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 damaging
Transcript: ENSMUST00000107257
AA Change: V283I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102878
Gene: ENSMUSG00000097239
AA Change: V283I
| 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: V301I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102880
Gene: ENSMUSG00000097239
AA Change: V301I
| 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: ENSMUST00000133240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189049
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
| Arap1 |
A |
T |
7: 101,049,484 (GRCm39) |
Y982F |
possibly damaging |
Het |
| Aspa |
T |
C |
11: 73,199,597 (GRCm39) |
K227E |
possibly damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,991,078 (GRCm39) |
C708F |
possibly damaging |
Het |
| Csn1s2a |
A |
G |
5: 87,929,746 (GRCm39) |
Q115R |
probably benign |
Het |
| Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
| Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
| Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
| Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,908,122 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
G |
A |
7: 141,353,581 (GRCm39) |
|
probably null |
Het |
| Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
| Pgm5 |
T |
A |
19: 24,839,021 (GRCm39) |
I45F |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,924,721 (GRCm39) |
T115A |
probably benign |
Het |
| Sgpp1 |
A |
G |
12: 75,762,964 (GRCm39) |
Y406H |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
| Tcerg1 |
T |
A |
18: 42,652,598 (GRCm39) |
N75K |
unknown |
Het |
| Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
| Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
| Vmn1r14 |
G |
A |
6: 57,211,310 (GRCm39) |
R252H |
possibly damaging |
Het |
| Wapl |
T |
C |
14: 34,459,871 (GRCm39) |
V1013A |
possibly damaging |
Het |
| Zfp37 |
G |
A |
4: 62,109,933 (GRCm39) |
T414I |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
probably 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 |
|
|
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 |
|
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'- TAACAACTCGAATGGGCCC -3'
(R):5'- CATCTCCCCAGCACTAGGATTC -3'
Sequencing Primer
(F):5'- GAATGGGCCCAGCATGATCATC -3'
(R):5'- AGCACTAGGATTCCGGGCATG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation