Incidental Mutation 'P0040:Hars1'
| ID |
7948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hars1
|
| Ensembl Gene |
ENSMUSG00000001380 |
| Gene Name |
histidyl-tRNA synthetase 1 |
| Synonyms |
Hars, MMHRS |
| MMRRC Submission |
038288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
P0040 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
36899581-36916258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36906628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 114
(I114N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001416]
|
| AlphaFold |
Q61035 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001416
AA Change: I114N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
AA Change: I114N
| Domain | Start | End | E-Value | Type |
|---|
|
WHEP-TRS
|
7 |
60 |
5.37e-11 |
SMART |
|
Pfam:tRNA-synt_His
|
61 |
389 |
1.9e-41 |
PFAM |
|
Pfam:HGTP_anticodon2
|
404 |
507 |
3.3e-12 |
PFAM |
|
Pfam:HGTP_anticodon
|
410 |
501 |
4.4e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.9669 |
| Coding Region Coverage |
- 1x: 72.9%
- 3x: 54.5%
- 10x: 17.9%
- 20x: 3.9%
|
| Validation Efficiency |
84% (31/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit deafness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arc |
A |
C |
15: 74,543,188 (GRCm39) |
L345R |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,173,039 (GRCm39) |
M2558K |
possibly damaging |
Het |
| Gper1 |
T |
C |
5: 139,412,243 (GRCm39) |
V196A |
probably benign |
Het |
| Mov10 |
C |
T |
3: 104,711,995 (GRCm39) |
V199M |
probably damaging |
Het |
| Mttp |
T |
G |
3: 137,818,327 (GRCm39) |
D377A |
possibly damaging |
Het |
| Nlgn2 |
C |
T |
11: 69,716,556 (GRCm39) |
A662T |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,830,099 (GRCm39) |
I372T |
probably damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,047,138 (GRCm39) |
S753C |
probably damaging |
Het |
| Sphk1 |
C |
T |
11: 116,425,891 (GRCm39) |
|
probably benign |
Het |
| Xylt2 |
C |
A |
11: 94,559,617 (GRCm39) |
V342L |
possibly damaging |
Het |
|
| Other mutations in Hars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Hars1
|
APN |
18 |
36,901,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01993:Hars1
|
APN |
18 |
36,903,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03079:Hars1
|
APN |
18 |
36,903,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Hars1
|
UTSW |
18 |
36,904,234 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0630:Hars1
|
UTSW |
18 |
36,904,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Hars1
|
UTSW |
18 |
36,904,467 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1711:Hars1
|
UTSW |
18 |
36,904,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Hars1
|
UTSW |
18 |
36,903,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1873:Hars1
|
UTSW |
18 |
36,900,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3907:Hars1
|
UTSW |
18 |
36,915,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5193:Hars1
|
UTSW |
18 |
36,900,358 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5688:Hars1
|
UTSW |
18 |
36,905,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Hars1
|
UTSW |
18 |
36,904,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6349:Hars1
|
UTSW |
18 |
36,916,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6416:Hars1
|
UTSW |
18 |
36,906,643 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7075:Hars1
|
UTSW |
18 |
36,905,408 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7209:Hars1
|
UTSW |
18 |
36,906,593 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7409:Hars1
|
UTSW |
18 |
36,903,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7538:Hars1
|
UTSW |
18 |
36,904,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7621:Hars1
|
UTSW |
18 |
36,903,476 (GRCm39) |
missense |
probably benign |
|
|
R7764:Hars1
|
UTSW |
18 |
36,903,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Hars1
|
UTSW |
18 |
36,904,243 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8828:Hars1
|
UTSW |
18 |
36,899,996 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2012-11-20 |
Incidental Mutation