Incidental Mutation 'R2193:Sars2'
| ID |
238265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sars2
|
| Ensembl Gene |
ENSMUSG00000070699 |
| Gene Name |
seryl-aminoacyl-tRNA synthetase 2 |
| Synonyms |
D7Ertd353e, 2410015F05Rik |
| MMRRC Submission |
040195-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.868)
|
| Stock # |
R2193 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28441417-28453296 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28448422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 268
(V268L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094632]
[ENSMUST00000207877]
|
| AlphaFold |
Q9JJL8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094632
AA Change: V268L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699
AA Change: V268L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seryl_tRNA_N
|
58 |
174 |
3.8e-8 |
PFAM |
|
Pfam:tRNA-synt_2b
|
284 |
468 |
5.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207897
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
T |
C |
7: 43,902,993 (GRCm39) |
R289G |
probably benign |
Het |
| Bfar |
A |
G |
16: 13,515,335 (GRCm39) |
N183D |
probably benign |
Het |
| Cdca3 |
A |
G |
6: 124,808,409 (GRCm39) |
T69A |
probably damaging |
Het |
| Ces1b |
A |
T |
8: 93,806,505 (GRCm39) |
C14S |
probably benign |
Het |
| Clcn3 |
T |
A |
8: 61,382,221 (GRCm39) |
I456F |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dcpp2 |
A |
C |
17: 24,119,393 (GRCm39) |
D69A |
probably damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,793,431 (GRCm39) |
I475N |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,115,623 (GRCm39) |
M1592L |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,596,532 (GRCm39) |
Q792R |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,252,747 (GRCm39) |
I440V |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,671,994 (GRCm39) |
S31P |
probably damaging |
Het |
| Isoc2b |
T |
C |
7: 4,853,823 (GRCm39) |
H117R |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Klf5 |
C |
T |
14: 99,536,406 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
G |
A |
16: 87,224,535 (GRCm39) |
S63F |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Oas1f |
A |
C |
5: 120,989,648 (GRCm39) |
T196P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ocln |
T |
C |
13: 100,676,412 (GRCm39) |
D27G |
probably damaging |
Het |
| Or2av9 |
A |
T |
11: 58,380,732 (GRCm39) |
M283K |
probably damaging |
Het |
| Or2y17 |
A |
G |
11: 49,231,770 (GRCm39) |
H137R |
possibly damaging |
Het |
| Rasgrf2 |
A |
C |
13: 92,160,221 (GRCm39) |
|
probably null |
Het |
| Sin3a |
T |
A |
9: 57,024,761 (GRCm39) |
S1040R |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,979,404 (GRCm39) |
Y39N |
probably damaging |
Het |
|
| Other mutations in Sars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Sars2
|
APN |
7 |
28,452,848 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01376:Sars2
|
APN |
7 |
28,449,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Sars2
|
APN |
7 |
28,446,974 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02121:Sars2
|
APN |
7 |
28,451,950 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02488:Sars2
|
APN |
7 |
28,441,585 (GRCm39) |
nonsense |
probably null |
|
|
IGL03062:Sars2
|
APN |
7 |
28,446,206 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1601:Sars2
|
UTSW |
7 |
28,448,396 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1857:Sars2
|
UTSW |
7 |
28,449,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1859:Sars2
|
UTSW |
7 |
28,443,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2204:Sars2
|
UTSW |
7 |
28,449,099 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4452:Sars2
|
UTSW |
7 |
28,449,518 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4514:Sars2
|
UTSW |
7 |
28,441,709 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4921:Sars2
|
UTSW |
7 |
28,451,863 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5121:Sars2
|
UTSW |
7 |
28,447,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5434:Sars2
|
UTSW |
7 |
28,449,716 (GRCm39) |
missense |
probably null |
1.00 |
|
R5849:Sars2
|
UTSW |
7 |
28,443,683 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6668:Sars2
|
UTSW |
7 |
28,446,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7123:Sars2
|
UTSW |
7 |
28,452,866 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7205:Sars2
|
UTSW |
7 |
28,443,733 (GRCm39) |
missense |
probably benign |
|
|
R7677:Sars2
|
UTSW |
7 |
28,446,176 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7902:Sars2
|
UTSW |
7 |
28,441,628 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8084:Sars2
|
UTSW |
7 |
28,449,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8320:Sars2
|
UTSW |
7 |
28,446,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9057:Sars2
|
UTSW |
7 |
28,446,246 (GRCm39) |
missense |
|
|
|
R9350:Sars2
|
UTSW |
7 |
28,447,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Sars2
|
UTSW |
7 |
28,449,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGAGAACCCCAATAACAGG -3'
(R):5'- GGAAGGTTTGCAGGGGTCAG -3'
Sequencing Primer
(F):5'- TAACAGGGACCCAGGACTCAG -3'
(R):5'- GTGTGACCCATCCAATAGCTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation