Incidental Mutation 'IGL00234:Yars2'
ID |
2109 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Yars2
|
Ensembl Gene |
ENSMUSG00000022792 |
Gene Name |
tyrosyl-tRNA synthetase 2 (mitochondrial) |
Synonyms |
2210023C10Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
IGL00234
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
16120829-16127504 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16121185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 113
(L113P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059955]
[ENSMUST00000159683]
[ENSMUST00000159962]
[ENSMUST00000162734]
|
AlphaFold |
Q8BYL4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059955
AA Change: L113P
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000055277 Gene: ENSMUSG00000022792 AA Change: L113P
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1b
|
64 |
370 |
5.9e-74 |
PFAM |
Blast:S4
|
403 |
466 |
1e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159583
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159683
AA Change: L113P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124606 Gene: ENSMUSG00000022792 AA Change: L113P
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1b
|
64 |
332 |
1.4e-63 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159962
AA Change: L113P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125252 Gene: ENSMUSG00000022792 AA Change: L113P
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1b
|
64 |
332 |
1.4e-63 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161191
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162734
|
SMART Domains |
Protein: ENSMUSP00000125496 Gene: ENSMUSG00000022792
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1b
|
1 |
102 |
7.2e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl4 |
T |
C |
17: 34,000,242 (GRCm39) |
N42S |
probably damaging |
Het |
Apoc4 |
A |
T |
7: 19,412,665 (GRCm39) |
S27T |
probably benign |
Het |
Atp13a3 |
T |
A |
16: 30,170,097 (GRCm39) |
Q363L |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,667,295 (GRCm39) |
Y417H |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,982,698 (GRCm39) |
S243P |
probably benign |
Het |
Epb41l2 |
A |
G |
10: 25,377,734 (GRCm39) |
T116A |
probably damaging |
Het |
Foxb1 |
A |
G |
9: 69,667,480 (GRCm39) |
S17P |
probably damaging |
Het |
Glb1l3 |
A |
T |
9: 26,764,967 (GRCm39) |
L148H |
probably damaging |
Het |
Hnrnpk |
T |
C |
13: 58,543,111 (GRCm39) |
|
probably benign |
Het |
Icam5 |
G |
A |
9: 20,948,091 (GRCm39) |
|
probably null |
Het |
Lats1 |
A |
G |
10: 7,567,330 (GRCm39) |
I34V |
probably damaging |
Het |
Lipc |
A |
T |
9: 70,727,719 (GRCm39) |
Y43N |
possibly damaging |
Het |
Maml3 |
A |
G |
3: 51,598,125 (GRCm39) |
I207T |
probably benign |
Het |
Nfatc2 |
A |
T |
2: 168,346,810 (GRCm39) |
S761R |
probably damaging |
Het |
Nubp1 |
G |
A |
16: 10,240,703 (GRCm39) |
G280S |
probably damaging |
Het |
Or4d2 |
T |
G |
11: 87,784,191 (GRCm39) |
R186S |
possibly damaging |
Het |
Pabpc4 |
A |
G |
4: 123,180,497 (GRCm39) |
N73S |
probably damaging |
Het |
Pcsk6 |
G |
A |
7: 65,577,568 (GRCm39) |
C163Y |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
Prune2 |
T |
A |
19: 17,145,708 (GRCm39) |
|
probably null |
Het |
Psmd7 |
A |
G |
8: 108,312,342 (GRCm39) |
V85A |
probably damaging |
Het |
Rc3h2 |
A |
G |
2: 37,279,759 (GRCm39) |
V490A |
possibly damaging |
Het |
Sh3tc1 |
A |
C |
5: 35,868,301 (GRCm39) |
S388A |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,221,677 (GRCm39) |
F2805L |
probably damaging |
Het |
Zfp82 |
G |
A |
7: 29,765,755 (GRCm39) |
S16L |
probably damaging |
Het |
|
Other mutations in Yars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01061:Yars2
|
APN |
16 |
16,124,406 (GRCm39) |
nonsense |
probably null |
|
IGL01062:Yars2
|
APN |
16 |
16,124,406 (GRCm39) |
nonsense |
probably null |
|
IGL01063:Yars2
|
APN |
16 |
16,124,406 (GRCm39) |
nonsense |
probably null |
|
IGL01066:Yars2
|
APN |
16 |
16,124,406 (GRCm39) |
nonsense |
probably null |
|
IGL01069:Yars2
|
APN |
16 |
16,124,406 (GRCm39) |
nonsense |
probably null |
|
IGL01070:Yars2
|
APN |
16 |
16,124,406 (GRCm39) |
nonsense |
probably null |
|
IGL02928:Yars2
|
APN |
16 |
16,121,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R4718:Yars2
|
UTSW |
16 |
16,127,204 (GRCm39) |
missense |
probably benign |
0.00 |
R5012:Yars2
|
UTSW |
16 |
16,121,448 (GRCm39) |
missense |
probably damaging |
0.98 |
R5498:Yars2
|
UTSW |
16 |
16,124,387 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5585:Yars2
|
UTSW |
16 |
16,122,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R5935:Yars2
|
UTSW |
16 |
16,127,335 (GRCm39) |
missense |
probably benign |
0.02 |
R6302:Yars2
|
UTSW |
16 |
16,122,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R6344:Yars2
|
UTSW |
16 |
16,120,899 (GRCm39) |
missense |
probably benign |
|
R7218:Yars2
|
UTSW |
16 |
16,121,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R7235:Yars2
|
UTSW |
16 |
16,122,556 (GRCm39) |
missense |
probably benign |
|
R7838:Yars2
|
UTSW |
16 |
16,122,385 (GRCm39) |
splice site |
probably null |
|
R8311:Yars2
|
UTSW |
16 |
16,125,147 (GRCm39) |
missense |
probably benign |
0.00 |
R9561:Yars2
|
UTSW |
16 |
16,127,242 (GRCm39) |
missense |
possibly damaging |
0.53 |
X0062:Yars2
|
UTSW |
16 |
16,120,882 (GRCm39) |
missense |
probably benign |
0.13 |
|
Posted On |
2011-12-09 |