Incidental Mutation 'R3822:Aarsd1'
| ID |
275238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aarsd1
|
| Ensembl Gene |
ENSMUSG00000075528 |
| Gene Name |
alanyl-tRNA synthetase domain containing 1 |
| Synonyms |
2310044P18Rik |
| MMRRC Submission |
040884-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.597)
|
| Stock # |
R3822 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101297665-101308441 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101301971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 332
(I332F)
|
| 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: I201F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000067912
Gene: ENSMUSG00000075528
AA Change: I201F
| 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: I314F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102878
Gene: ENSMUSG00000097239
AA Change: I314F
| 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: I332F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102880
Gene: ENSMUSG00000097239
AA Change: I332F
| 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
|
| Meta Mutation Damage Score |
0.7730 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
| Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
| Chka |
A |
G |
19: 3,932,038 (GRCm39) |
|
probably benign |
Het |
| Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
| Cth |
A |
G |
3: 157,624,136 (GRCm39) |
F127S |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,184,070 (GRCm39) |
|
probably benign |
Het |
| Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
| Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,800,260 (GRCm39) |
S113P |
probably benign |
Het |
| Herpud2 |
G |
A |
9: 25,036,220 (GRCm39) |
Q147* |
probably null |
Het |
| Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
| Hlcs |
T |
C |
16: 94,068,840 (GRCm39) |
N274D |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
| Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
| Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
| Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,539,913 (GRCm39) |
I176T |
possibly damaging |
Het |
| Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
| Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
| Psmb7 |
A |
T |
2: 38,503,440 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,664,550 (GRCm39) |
T60M |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,706,092 (GRCm39) |
V639A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
| Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,867,451 (GRCm39) |
|
probably benign |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,251 (GRCm39) |
V19E |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
| Wdr4 |
T |
G |
17: 31,731,195 (GRCm39) |
Q55P |
probably damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,657,769 (GRCm39) |
L714Q |
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 |
|
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'- TCTTAGGACACAAGGGCAAG -3'
(R):5'- AAAATCAGAGACCGGCTGC -3'
Sequencing Primer
(F):5'- GGCAAGAGAGACCAGACCC -3'
(R):5'- AGTGTTCGAGAGCTGAGCC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation