Incidental Mutation 'IGL00225:Hars1'
| ID |
2066 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hars1
|
| Ensembl Gene |
ENSMUSG00000001380 |
| Gene Name |
histidyl-tRNA synthetase 1 |
| Synonyms |
Hars, MMHRS |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL00225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36899581-36916258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36901225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 409
(T409M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001416]
[ENSMUST00000049323]
[ENSMUST00000061522]
|
| AlphaFold |
Q61035 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001416
AA Change: T409M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
AA Change: T409M
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049323
|
| SMART Domains |
Protein: ENSMUSP00000039010
Gene: ENSMUSG00000042660
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
WD40
|
31 |
67 |
4.6e0 |
SMART |
|
WD40
|
74 |
113 |
1.12e-2 |
SMART |
|
WD40
|
116 |
155 |
2.4e-2 |
SMART |
|
WD40
|
158 |
197 |
2.76e-2 |
SMART |
|
WD40
|
202 |
239 |
1.72e0 |
SMART |
|
WD40
|
284 |
324 |
2.01e-4 |
SMART |
|
low complexity region
|
380 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061522
|
| SMART Domains |
Protein: ENSMUSP00000054412
Gene: ENSMUSG00000044595
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
RRM
|
59 |
132 |
2.49e-10 |
SMART |
|
RRM
|
139 |
214 |
3.01e-1 |
SMART |
|
Pfam:DND1_DSRM
|
253 |
333 |
1.1e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155827
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Flii |
T |
C |
11: 60,614,241 (GRCm39) |
N93D |
probably benign |
Het |
| Gm8356 |
T |
C |
14: 17,693,287 (GRCm39) |
K24E |
probably damaging |
Het |
| Ivns1abp |
A |
G |
1: 151,226,863 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kdm4c |
T |
G |
4: 74,263,804 (GRCm39) |
V696G |
probably benign |
Het |
| Klrb1f |
T |
A |
6: 129,030,138 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,325,371 (GRCm39) |
V1399I |
probably benign |
Het |
| LTO1 |
G |
A |
7: 144,471,405 (GRCm39) |
G86D |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,291,849 (GRCm39) |
V3168A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,286,731 (GRCm39) |
I177K |
probably damaging |
Het |
| Nnt |
A |
T |
13: 119,506,533 (GRCm39) |
N371K |
probably damaging |
Het |
| Or13a27 |
A |
G |
7: 139,925,123 (GRCm39) |
Y260H |
probably damaging |
Het |
| Or5p52 |
C |
T |
7: 107,502,311 (GRCm39) |
P129L |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,627,508 (GRCm39) |
V3389L |
possibly damaging |
Het |
| Prr16 |
T |
A |
18: 51,436,192 (GRCm39) |
Y224N |
possibly damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,127,231 (GRCm39) |
C39Y |
probably damaging |
Het |
| Sla |
T |
C |
15: 66,654,479 (GRCm39) |
D269G |
possibly damaging |
Het |
| Stk38l |
T |
A |
6: 146,659,971 (GRCm39) |
M1K |
probably null |
Het |
| Trim24 |
T |
A |
6: 37,880,583 (GRCm39) |
N160K |
possibly damaging |
Het |
| Zfp451 |
A |
G |
1: 33,825,621 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
P0040:Hars1
|
UTSW |
18 |
36,906,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2011-12-09 |
Incidental Mutation