Incidental Mutation 'R3918:Aars1'
| ID |
307502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aars1
|
| Ensembl Gene |
ENSMUSG00000031960 |
| Gene Name |
alanyl-tRNA synthetase 1 |
| Synonyms |
Aars |
| MMRRC Submission |
040816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R3918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111759781-111784237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111766774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 52
(I52T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034441]
[ENSMUST00000125268]
|
| AlphaFold |
Q8BGQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034441
AA Change: I52T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: I52T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_2c
|
9 |
597 |
9.2e-228 |
PFAM |
|
tRNA_SAD
|
694 |
753 |
5.97e-18 |
SMART |
|
Pfam:DHHA1
|
885 |
957 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174930
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous point mutation (A734E) exhibit a rough sticky coat, follicular dystrophy, patchy hair loss, progressive ataxia, and Purkinje cell degeneration. Homozygotes for a targeted point mutation (C723A) die by mid-gestation, while heterozygotes show mild Purkinje cell loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
G |
A |
1: 9,646,441 (GRCm39) |
R447H |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,676,515 (GRCm39) |
K72E |
probably benign |
Het |
| Best2 |
T |
G |
8: 85,736,353 (GRCm39) |
D270A |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Col18a1 |
T |
C |
10: 76,889,192 (GRCm39) |
M1721V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,865,000 (GRCm39) |
T39A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,761,800 (GRCm39) |
M3897L |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Egf |
T |
C |
3: 129,490,509 (GRCm39) |
I395V |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,050 (GRCm39) |
G446D |
probably damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
C |
1: 150,566,361 (GRCm39) |
T2214S |
probably benign |
Het |
| Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,621,190 (GRCm39) |
S266P |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,748,401 (GRCm39) |
Q226R |
probably benign |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,220,064 (GRCm39) |
E138K |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,778,799 (GRCm39) |
T516A |
probably damaging |
Het |
| Ola1 |
A |
G |
2: 72,972,683 (GRCm39) |
V200A |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,261,074 (GRCm39) |
V33D |
possibly damaging |
Het |
| Patj |
C |
A |
4: 98,344,455 (GRCm39) |
P20H |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,101 (GRCm39) |
W416R |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppp1r36 |
G |
A |
12: 76,464,431 (GRCm39) |
V10I |
probably benign |
Het |
| Rnf150 |
C |
T |
8: 83,591,090 (GRCm39) |
T151I |
probably benign |
Het |
| Tank |
G |
T |
2: 61,474,130 (GRCm39) |
|
probably null |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trappc13 |
T |
C |
13: 104,297,590 (GRCm39) |
T105A |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,838 (GRCm39) |
S1066P |
probably damaging |
Het |
| Txndc9 |
G |
A |
1: 38,033,131 (GRCm39) |
Q84* |
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,846,474 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zfp51 |
A |
G |
17: 21,683,702 (GRCm39) |
K106E |
probably benign |
Het |
|
| Other mutations in Aars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00478:Aars1
|
APN |
8 |
111,774,604 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL00731:Aars1
|
APN |
8 |
111,771,501 (GRCm39) |
splice site |
probably benign |
|
|
IGL00826:Aars1
|
APN |
8 |
111,766,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01521:Aars1
|
APN |
8 |
111,770,419 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01885:Aars1
|
APN |
8 |
111,774,575 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01920:Aars1
|
APN |
8 |
111,769,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01934:Aars1
|
APN |
8 |
111,774,650 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02013:Aars1
|
APN |
8 |
111,773,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02489:Aars1
|
APN |
8 |
111,780,847 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02683:Aars1
|
APN |
8 |
111,779,163 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03084:Aars1
|
APN |
8 |
111,768,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Aars1
|
UTSW |
8 |
111,772,187 (GRCm39) |
missense |
probably benign |
|
|
R0037:Aars1
|
UTSW |
8 |
111,769,891 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0049:Aars1
|
UTSW |
8 |
111,779,083 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0049:Aars1
|
UTSW |
8 |
111,779,083 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0577:Aars1
|
UTSW |
8 |
111,769,910 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1183:Aars1
|
UTSW |
8 |
111,768,206 (GRCm39) |
nonsense |
probably null |
|
|
R1642:Aars1
|
UTSW |
8 |
111,769,882 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1829:Aars1
|
UTSW |
8 |
111,769,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Aars1
|
UTSW |
8 |
111,766,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2190:Aars1
|
UTSW |
8 |
111,766,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Aars1
|
UTSW |
8 |
111,779,134 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4001:Aars1
|
UTSW |
8 |
111,768,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4434:Aars1
|
UTSW |
8 |
111,781,253 (GRCm39) |
missense |
probably null |
0.74 |
|
R4909:Aars1
|
UTSW |
8 |
111,781,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Aars1
|
UTSW |
8 |
111,770,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5639:Aars1
|
UTSW |
8 |
111,769,866 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5991:Aars1
|
UTSW |
8 |
111,777,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6403:Aars1
|
UTSW |
8 |
111,768,881 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6521:Aars1
|
UTSW |
8 |
111,769,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6956:Aars1
|
UTSW |
8 |
111,781,762 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7378:Aars1
|
UTSW |
8 |
111,768,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7625:Aars1
|
UTSW |
8 |
111,773,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7745:Aars1
|
UTSW |
8 |
111,768,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Aars1
|
UTSW |
8 |
111,769,896 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7860:Aars1
|
UTSW |
8 |
111,776,493 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8109:Aars1
|
UTSW |
8 |
111,767,284 (GRCm39) |
missense |
probably benign |
|
|
R8197:Aars1
|
UTSW |
8 |
111,780,628 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8322:Aars1
|
UTSW |
8 |
111,772,160 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8343:Aars1
|
UTSW |
8 |
111,767,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Aars1
|
UTSW |
8 |
111,768,881 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8783:Aars1
|
UTSW |
8 |
111,776,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8977:Aars1
|
UTSW |
8 |
111,766,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Aars1
|
UTSW |
8 |
111,768,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Aars1
|
UTSW |
8 |
111,780,785 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9561:Aars1
|
UTSW |
8 |
111,763,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Aars1
|
UTSW |
8 |
111,768,296 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTTACTCCCAAGTGAGC -3'
(R):5'- GAGCTTACCTTGAAATAGTCCCC -3'
Sequencing Primer
(F):5'- ACTCAACTTTGTAGGCCAGG -3'
(R):5'- GCTTACCTTGAAATAGTCCCCAAAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation