Incidental Mutation 'R5012:Yars2'
| ID |
390595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yars2
|
| Ensembl Gene |
ENSMUSG00000022792 |
| Gene Name |
tyrosyl-tRNA synthetase 2 (mitochondrial) |
| Synonyms |
2210023C10Rik |
| MMRRC Submission |
042603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R5012 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
16120829-16127504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16121448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 201
(S201P)
|
| 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: S201P
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055277
Gene: ENSMUSG00000022792
AA Change: S201P
| 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: S201P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124606
Gene: ENSMUSG00000022792
AA Change: S201P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1b
|
64 |
332 |
1.4e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159962
AA Change: S201P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125252
Gene: ENSMUSG00000022792
AA Change: S201P
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.9%
|
| Validation Efficiency |
98% (45/46) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,767,217 (GRCm39) |
T268K |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Acsl1 |
A |
G |
8: 46,974,468 (GRCm39) |
S314G |
probably benign |
Het |
| Aftph |
G |
A |
11: 20,648,264 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,611,709 (GRCm39) |
I211L |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,194,999 (GRCm39) |
T560A |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,403 (GRCm39) |
S1247R |
possibly damaging |
Het |
| Elf1 |
T |
A |
14: 79,808,174 (GRCm39) |
Y172N |
probably damaging |
Het |
| Emx1 |
C |
T |
6: 85,180,955 (GRCm39) |
P224L |
probably benign |
Het |
| Fastkd2 |
A |
T |
1: 63,789,055 (GRCm39) |
|
probably benign |
Het |
| Fbxw27 |
C |
A |
9: 109,602,271 (GRCm39) |
C234F |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Igkv6-23 |
C |
A |
6: 70,237,529 (GRCm39) |
A71S |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,226,143 (GRCm39) |
L2510P |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,898,802 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,504,710 (GRCm39) |
G122* |
probably null |
Het |
| Lamtor2 |
C |
T |
3: 88,460,163 (GRCm39) |
R3H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,618 (GRCm39) |
T321S |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,484,107 (GRCm39) |
|
probably null |
Het |
| Mcm7 |
A |
T |
5: 138,167,609 (GRCm39) |
|
probably null |
Het |
| Mitd1 |
A |
T |
1: 37,924,374 (GRCm39) |
C59S |
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,216,570 (GRCm39) |
L2636P |
possibly damaging |
Het |
| Paip1 |
A |
G |
13: 119,584,338 (GRCm39) |
M233V |
probably benign |
Het |
| Pcdhb11 |
C |
A |
18: 37,556,029 (GRCm39) |
T453N |
possibly damaging |
Het |
| Plcb1 |
A |
G |
2: 135,175,320 (GRCm39) |
N545S |
probably null |
Het |
| Prl8a9 |
A |
T |
13: 27,746,594 (GRCm39) |
|
probably null |
Het |
| Psmc2 |
A |
G |
5: 22,007,563 (GRCm39) |
T308A |
probably benign |
Het |
| Rassf2 |
C |
A |
2: 131,851,610 (GRCm39) |
R44L |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,609,944 (GRCm39) |
M968K |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,475,230 (GRCm39) |
S146T |
possibly damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,137,127 (GRCm39) |
I260T |
probably benign |
Het |
| Steap2 |
G |
C |
5: 5,727,784 (GRCm39) |
L184V |
possibly damaging |
Het |
| Ttll5 |
G |
A |
12: 85,973,618 (GRCm39) |
E776K |
possibly damaging |
Het |
| Vipr1 |
A |
T |
9: 121,487,111 (GRCm39) |
|
probably null |
Het |
| Zfp386 |
T |
A |
12: 116,022,864 (GRCm39) |
I194K |
probably benign |
Het |
| Zfp988 |
A |
G |
4: 147,416,060 (GRCm39) |
I165V |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAACTCTGTTGGGGCTCTTC -3'
(R):5'- CAGCTTACTTGTGGATGAACTC -3'
Sequencing Primer
(F):5'- ACAACGTGATCGCGCTC -3'
(R):5'- ACTCGTAGCCAGACATGATGTTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation