Incidental Mutation 'IGL01993:Hars1'
ID |
182073 |
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: 0.966)
|
Stock # |
IGL01993
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
36899581-36916258 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 36903265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 355
(G355D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001416]
[ENSMUST00000061522]
|
AlphaFold |
Q61035 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001416
AA Change: G355D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001416 Gene: ENSMUSG00000001380 AA Change: G355D
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: 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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
A |
11: 9,208,452 (GRCm39) |
|
probably benign |
Het |
Acnat2 |
A |
T |
4: 49,380,131 (GRCm39) |
S398T |
probably benign |
Het |
Adgrb2 |
G |
T |
4: 129,912,635 (GRCm39) |
E1296D |
possibly damaging |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Anapc2 |
C |
A |
2: 25,164,725 (GRCm39) |
D322E |
probably benign |
Het |
Apobec1 |
A |
G |
6: 122,565,138 (GRCm39) |
|
probably benign |
Het |
Asic1 |
T |
C |
15: 99,595,353 (GRCm39) |
V393A |
probably benign |
Het |
Cfap65 |
A |
C |
1: 74,959,702 (GRCm39) |
F816C |
probably damaging |
Het |
Cfap69 |
A |
C |
5: 5,631,284 (GRCm39) |
L914R |
probably damaging |
Het |
Cgas |
A |
G |
9: 78,349,802 (GRCm39) |
S187P |
probably benign |
Het |
Cspg4 |
C |
T |
9: 56,805,762 (GRCm39) |
T2191I |
probably benign |
Het |
Cyp11a1 |
T |
A |
9: 57,928,106 (GRCm39) |
I210N |
probably damaging |
Het |
Dgkb |
T |
A |
12: 38,032,009 (GRCm39) |
Y24N |
probably benign |
Het |
Epc1 |
T |
C |
18: 6,449,136 (GRCm39) |
T504A |
possibly damaging |
Het |
Fam135a |
A |
T |
1: 24,094,992 (GRCm39) |
D125E |
probably damaging |
Het |
Fgd3 |
T |
C |
13: 49,433,664 (GRCm39) |
H345R |
possibly damaging |
Het |
Gm12253 |
T |
C |
11: 58,325,379 (GRCm39) |
V17A |
probably damaging |
Het |
Hpgd |
A |
T |
8: 56,772,097 (GRCm39) |
I190F |
probably benign |
Het |
Ighv1-34 |
A |
T |
12: 114,815,003 (GRCm39) |
M53K |
probably benign |
Het |
Ildr2 |
A |
T |
1: 166,096,939 (GRCm39) |
T53S |
possibly damaging |
Het |
Ints5 |
T |
A |
19: 8,872,829 (GRCm39) |
C263S |
probably benign |
Het |
Lars2 |
T |
C |
9: 123,224,008 (GRCm39) |
|
probably benign |
Het |
Ldha |
G |
A |
7: 46,504,524 (GRCm39) |
A349T |
possibly damaging |
Het |
Map3k2 |
T |
A |
18: 32,359,684 (GRCm39) |
C512* |
probably null |
Het |
Parp4 |
G |
A |
14: 56,848,245 (GRCm39) |
R687Q |
possibly damaging |
Het |
Plk2 |
T |
C |
13: 110,535,731 (GRCm39) |
S518P |
probably damaging |
Het |
Prrc2b |
T |
G |
2: 32,114,057 (GRCm39) |
V2036G |
possibly damaging |
Het |
Psg16 |
T |
A |
7: 16,827,631 (GRCm39) |
S196T |
probably benign |
Het |
Psme3ip1 |
G |
T |
8: 95,302,380 (GRCm39) |
A217D |
possibly damaging |
Het |
Ranbp17 |
T |
C |
11: 33,450,770 (GRCm39) |
T56A |
possibly damaging |
Het |
Retsat |
T |
C |
6: 72,581,978 (GRCm39) |
|
probably benign |
Het |
Robo3 |
G |
T |
9: 37,335,949 (GRCm39) |
L484I |
probably damaging |
Het |
Septin4 |
G |
T |
11: 87,458,555 (GRCm39) |
G310W |
possibly damaging |
Het |
Slc17a6 |
T |
C |
7: 51,317,705 (GRCm39) |
M446T |
possibly damaging |
Het |
Slc38a1 |
G |
A |
15: 96,521,927 (GRCm39) |
T11M |
probably damaging |
Het |
Tmem138 |
T |
C |
19: 10,548,952 (GRCm39) |
N106S |
probably benign |
Het |
Traf1 |
G |
A |
2: 34,836,879 (GRCm39) |
|
probably benign |
Het |
Tspan8 |
T |
C |
10: 115,675,913 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
T |
C |
15: 37,973,256 (GRCm39) |
E2615G |
probably damaging |
Het |
Vwde |
A |
G |
6: 13,219,977 (GRCm39) |
I58T |
possibly damaging |
Het |
Zc3h12c |
A |
G |
9: 52,027,611 (GRCm39) |
S603P |
probably damaging |
Het |
Zfp746 |
A |
T |
6: 48,059,092 (GRCm39) |
S172R |
probably 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 |
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 |
2014-05-07 |