Incidental Mutation 'R5204:Aarsd1'
ID |
398360 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aarsd1
|
Ensembl Gene |
ENSMUSG00000075528 |
Gene Name |
alanyl-tRNA synthetase domain containing 1 |
Synonyms |
2310044P18Rik |
MMRRC Submission |
042779-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.573)
|
Stock # |
R5204 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101297665-101308441 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101297752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 532
(L532Q)
|
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: L401Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000067912 Gene: ENSMUSG00000075528 AA Change: L401Q
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: L514Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102878 Gene: ENSMUSG00000097239 AA Change: L514Q
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: L532Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102880 Gene: ENSMUSG00000097239 AA Change: L532Q
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abt1 |
G |
A |
13: 23,606,838 (GRCm39) |
R88C |
probably damaging |
Het |
Aopep |
G |
A |
13: 63,180,904 (GRCm39) |
V289I |
probably benign |
Het |
Arhgef7 |
T |
A |
8: 11,850,775 (GRCm39) |
L129* |
probably null |
Het |
Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
Bivm |
G |
C |
1: 44,177,738 (GRCm39) |
G346A |
probably damaging |
Het |
Cav1 |
T |
C |
6: 17,339,254 (GRCm39) |
L102P |
probably damaging |
Het |
Ccdc57 |
A |
G |
11: 120,776,888 (GRCm39) |
V504A |
possibly damaging |
Het |
Cd7 |
A |
T |
11: 120,928,860 (GRCm39) |
|
probably null |
Het |
Cdh3 |
T |
C |
8: 107,270,871 (GRCm39) |
V508A |
probably benign |
Het |
Chrd |
A |
T |
16: 20,554,822 (GRCm39) |
I413F |
probably benign |
Het |
Clec4b1 |
T |
A |
6: 123,048,494 (GRCm39) |
*210R |
probably null |
Het |
Clock |
A |
T |
5: 76,391,017 (GRCm39) |
|
probably null |
Het |
Col4a2 |
T |
A |
8: 11,448,651 (GRCm39) |
|
probably null |
Het |
Gpx7 |
T |
C |
4: 108,260,512 (GRCm39) |
T95A |
probably benign |
Het |
Hivep3 |
T |
A |
4: 119,961,053 (GRCm39) |
|
probably null |
Het |
Hrc |
A |
G |
7: 44,985,128 (GRCm39) |
Y93C |
possibly damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Klhl5 |
G |
T |
5: 65,288,781 (GRCm39) |
L14F |
possibly damaging |
Het |
Mcm6 |
A |
G |
1: 128,261,375 (GRCm39) |
L743P |
probably benign |
Het |
Nrxn1 |
A |
T |
17: 90,469,792 (GRCm39) |
F57Y |
probably damaging |
Het |
Or51af1 |
C |
T |
7: 103,141,747 (GRCm39) |
V113M |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdh20 |
G |
T |
14: 88,706,351 (GRCm39) |
D316E |
probably damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,569,142 (GRCm39) |
V96E |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,176,909 (GRCm39) |
L346M |
possibly damaging |
Het |
Pkhd1l1 |
A |
C |
15: 44,410,437 (GRCm39) |
N2648T |
possibly damaging |
Het |
Rufy1 |
C |
T |
11: 50,297,261 (GRCm39) |
R397Q |
probably damaging |
Het |
Sema5a |
G |
T |
15: 32,686,793 (GRCm39) |
M968I |
probably benign |
Het |
Slc33a1 |
A |
G |
3: 63,871,167 (GRCm39) |
Y149H |
probably damaging |
Het |
Tln2 |
T |
A |
9: 67,261,764 (GRCm39) |
R658S |
probably benign |
Het |
Tmem30c |
T |
C |
16: 57,090,385 (GRCm39) |
N274S |
possibly damaging |
Het |
Tor3a |
A |
G |
1: 156,483,270 (GRCm39) |
L384P |
probably damaging |
Het |
Trpm3 |
T |
A |
19: 22,425,705 (GRCm39) |
L20* |
probably null |
Het |
Ttn |
T |
A |
2: 76,560,556 (GRCm39) |
I20955F |
probably damaging |
Het |
Usp15 |
A |
T |
10: 122,949,545 (GRCm39) |
S908R |
probably benign |
Het |
Zfp866 |
A |
G |
8: 70,218,690 (GRCm39) |
L310P |
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 |
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 |
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'- TACCGGTGCTAGTCGCTTTAG -3'
(R):5'- CTGGAGTATGTGTTCCTTGGAAAC -3'
Sequencing Primer
(F):5'- CTAGTCGCTTTAGCACACTGGAG -3'
(R):5'- GTGTTCCTTGGAAACATCACAAG -3'
|
Posted On |
2016-07-06 |