Incidental Mutation 'IGL01070:Yars2'
ID |
278147 |
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 # |
IGL01070
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
16120829-16127504 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 16124406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 338
(R338*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059955]
[ENSMUST00000159683]
[ENSMUST00000159962]
[ENSMUST00000162734]
|
AlphaFold |
Q8BYL4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000059955
AA Change: R338*
|
SMART Domains |
Protein: ENSMUSP00000055277 Gene: ENSMUSG00000022792 AA Change: R338*
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 |
unknown
Transcript: ENSMUST00000159683
AA Change: A326V
|
SMART Domains |
Protein: ENSMUSP00000124606 Gene: ENSMUSG00000022792 AA Change: A326V
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1b
|
64 |
332 |
1.4e-63 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159962
AA Change: A326V
|
SMART Domains |
Protein: ENSMUSP00000125252 Gene: ENSMUSG00000022792 AA Change: A326V
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
AA Change: A50V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000125496 Gene: ENSMUSG00000022792 AA Change: A50V
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adamts5 |
T |
C |
16: 85,660,021 (GRCm39) |
H757R |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Akap3 |
A |
T |
6: 126,842,842 (GRCm39) |
E487V |
possibly damaging |
Het |
Bicd2 |
T |
C |
13: 49,531,792 (GRCm39) |
S271P |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cma1 |
A |
G |
14: 56,180,154 (GRCm39) |
S71P |
probably benign |
Het |
Cspp1 |
T |
C |
1: 10,158,370 (GRCm39) |
Y494H |
probably damaging |
Het |
Cyp39a1 |
A |
G |
17: 43,993,913 (GRCm39) |
K191R |
probably benign |
Het |
Efr3a |
G |
A |
15: 65,724,927 (GRCm39) |
V507I |
probably benign |
Het |
Fam178b |
C |
T |
1: 36,603,484 (GRCm39) |
R489Q |
possibly damaging |
Het |
Kcnj4 |
A |
G |
15: 79,368,780 (GRCm39) |
L400P |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,491,907 (GRCm39) |
Y411H |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,101,156 (GRCm39) |
I78L |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,317,516 (GRCm39) |
D1377G |
probably damaging |
Het |
Pramel5 |
T |
G |
4: 143,997,842 (GRCm39) |
Y467S |
probably damaging |
Het |
Prkg1 |
G |
A |
19: 30,546,743 (GRCm39) |
|
probably benign |
Het |
Rbfox1 |
A |
C |
16: 7,124,307 (GRCm39) |
S219R |
possibly damaging |
Het |
Rfng |
T |
C |
11: 120,674,778 (GRCm39) |
N71D |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,415,461 (GRCm39) |
I1884V |
probably damaging |
Het |
Rptn |
T |
A |
3: 93,305,483 (GRCm39) |
Y939N |
possibly damaging |
Het |
Sart1 |
A |
G |
19: 5,433,979 (GRCm39) |
V322A |
probably benign |
Het |
Shank3 |
T |
C |
15: 89,433,619 (GRCm39) |
S1455P |
probably damaging |
Het |
Smc5 |
T |
A |
19: 23,208,965 (GRCm39) |
R703W |
possibly damaging |
Het |
Sptan1 |
G |
A |
2: 29,904,185 (GRCm39) |
|
probably null |
Het |
Tecta |
T |
C |
9: 42,306,299 (GRCm39) |
D43G |
probably damaging |
Het |
Tmem67 |
A |
T |
4: 12,054,750 (GRCm39) |
M685K |
probably benign |
Het |
Trac |
A |
G |
14: 54,458,223 (GRCm39) |
T82A |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,195,861 (GRCm39) |
N1295S |
probably damaging |
Het |
Ttc36 |
T |
C |
9: 44,712,887 (GRCm39) |
|
probably null |
Het |
Utp18 |
A |
T |
11: 93,760,674 (GRCm39) |
S384T |
possibly damaging |
Het |
Vmn1r64 |
C |
A |
7: 5,886,941 (GRCm39) |
A201S |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,038,566 (GRCm39) |
I714F |
probably benign |
Het |
Vps54 |
T |
A |
11: 21,262,268 (GRCm39) |
V626D |
probably damaging |
Het |
Wapl |
T |
C |
14: 34,467,579 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Yars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00234:Yars2
|
APN |
16 |
16,121,185 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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 |
2015-04-16 |