Incidental Mutation 'IGL03079:Hars1'
| ID |
417801 |
| 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 # |
IGL03079
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36899581-36916258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36903556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 289
(L289F)
|
| 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: L289F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
AA Change: L289F
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
T |
A |
10: 102,845,209 (GRCm39) |
H274L |
probably damaging |
Het |
| Arl6ip4 |
A |
T |
5: 124,254,990 (GRCm39) |
H59L |
possibly damaging |
Het |
| C1ra |
A |
G |
6: 124,496,794 (GRCm39) |
Y410C |
probably damaging |
Het |
| Ceacam11 |
A |
G |
7: 17,712,361 (GRCm39) |
N270S |
probably benign |
Het |
| Cmtr1 |
T |
A |
17: 29,882,267 (GRCm39) |
N39K |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,234,209 (GRCm39) |
D293G |
possibly damaging |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,167 (GRCm39) |
E260G |
probably damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,090,068 (GRCm39) |
W700* |
probably null |
Het |
| Efemp2 |
G |
T |
19: 5,525,155 (GRCm39) |
L20F |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,341,662 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
A |
T |
3: 88,020,477 (GRCm39) |
M374L |
probably benign |
Het |
| Lrig2 |
A |
T |
3: 104,398,287 (GRCm39) |
W281R |
probably damaging |
Het |
| Lyg2 |
C |
T |
1: 37,946,727 (GRCm39) |
E185K |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
| Marchf11 |
T |
C |
15: 26,311,144 (GRCm39) |
S207P |
probably damaging |
Het |
| Nipa2 |
A |
T |
7: 55,583,205 (GRCm39) |
V180E |
probably damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,581 (GRCm39) |
C254S |
possibly damaging |
Het |
| P2rx5 |
A |
G |
11: 73,055,714 (GRCm39) |
D57G |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,997 (GRCm39) |
I1058T |
probably damaging |
Het |
| Rxfp3 |
C |
A |
15: 11,036,909 (GRCm39) |
M154I |
possibly damaging |
Het |
| Slc3a1 |
T |
A |
17: 85,367,251 (GRCm39) |
Y479* |
probably null |
Het |
| Tamalin |
T |
C |
15: 101,128,448 (GRCm39) |
V162A |
probably damaging |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,923,332 (GRCm39) |
Y270H |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,382,247 (GRCm39) |
E1986G |
possibly damaging |
Het |
| Zfp719 |
A |
G |
7: 43,240,590 (GRCm39) |
Y726C |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,195,423 (GRCm39) |
E7G |
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 |
|
IGL01993:Hars1
|
APN |
18 |
36,903,265 (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 |
2016-08-02 |
Incidental Mutation