Incidental Mutation 'R5498:Yars2'
| ID |
432493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yars2
|
| Ensembl Gene |
ENSMUSG00000022792 |
| Gene Name |
tyrosyl-tRNA synthetase 2 (mitochondrial) |
| Synonyms |
2210023C10Rik |
| MMRRC Submission |
043059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R5498 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
16120829-16127504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16124387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 331
(H331Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059955]
[ENSMUST00000159683]
[ENSMUST00000159962]
[ENSMUST00000162734]
|
| AlphaFold |
Q8BYL4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059955
AA Change: H331Q
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000055277
Gene: ENSMUSG00000022792
AA Change: H331Q
| 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: C320S
|
| SMART Domains |
Protein: ENSMUSP00000124606
Gene: ENSMUSG00000022792
AA Change: C320S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1b
|
64 |
332 |
1.4e-63 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159962
AA Change: C320S
|
| SMART Domains |
Protein: ENSMUSP00000125252
Gene: ENSMUSG00000022792
AA Change: C320S
| 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: C44S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125496
Gene: ENSMUSG00000022792
AA Change: C44S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1b
|
1 |
102 |
7.2e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.8%
- 20x: 89.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
A |
5: 109,885,413 (GRCm39) |
K148N |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,099,670 (GRCm39) |
D959V |
possibly damaging |
Het |
| Acot12 |
T |
C |
13: 91,929,352 (GRCm39) |
V393A |
probably damaging |
Het |
| Ano3 |
C |
A |
2: 110,527,448 (GRCm39) |
V587F |
possibly damaging |
Het |
| Bub1 |
T |
C |
2: 127,656,629 (GRCm39) |
D471G |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,591,917 (GRCm39) |
V601F |
possibly damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,483,983 (GRCm39) |
I706N |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,202,096 (GRCm39) |
I1259T |
probably damaging |
Het |
| Furin |
A |
T |
7: 80,041,542 (GRCm39) |
W539R |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,276,634 (GRCm39) |
|
probably null |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,727 (GRCm39) |
M109V |
probably benign |
Het |
| Klf10 |
G |
A |
15: 38,296,283 (GRCm39) |
R421W |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,624,821 (GRCm39) |
Y2144F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,165,689 (GRCm39) |
Y297C |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,179,142 (GRCm39) |
E1325K |
probably benign |
Het |
| Nsd1 |
A |
T |
13: 55,361,115 (GRCm39) |
K28* |
probably null |
Het |
| Or2r11 |
C |
T |
6: 42,437,228 (GRCm39) |
A242T |
probably benign |
Het |
| Or51b4 |
T |
G |
7: 103,530,839 (GRCm39) |
T204P |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,602,787 (GRCm39) |
N120K |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,609,504 (GRCm39) |
T274A |
possibly damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,092 (GRCm39) |
I786N |
probably damaging |
Het |
| Plec |
G |
A |
15: 76,061,654 (GRCm39) |
S2626L |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,104,418 (GRCm39) |
L819P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 124,439,123 (GRCm38) |
|
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,229,738 (GRCm39) |
D928G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,404,856 (GRCm39) |
|
probably null |
Het |
| Sarnp |
T |
A |
10: 128,689,063 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc16a10 |
C |
T |
10: 39,913,323 (GRCm39) |
V462M |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,973 (GRCm39) |
H286L |
possibly damaging |
Het |
| Spag17 |
G |
A |
3: 100,010,661 (GRCm39) |
A2052T |
possibly damaging |
Het |
| Sptbn5 |
A |
T |
2: 119,907,119 (GRCm39) |
|
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Trim45 |
T |
C |
3: 100,832,457 (GRCm39) |
V230A |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,556,635 (GRCm39) |
F989L |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,043,535 (GRCm39) |
H119R |
probably damaging |
Het |
| Zscan21 |
T |
C |
5: 138,131,522 (GRCm39) |
S349P |
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 |
|
R5012:Yars2
|
UTSW |
16 |
16,121,448 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- CTGTATAAGTACATGCTACAGCTTTTC -3'
(R):5'- TGTTCCACAGTATATGTTTCAACAGC -3'
Sequencing Primer
(F):5'- CTTCCCAAGATAAGCTAGTGG -3'
(R):5'- CCCAAGATGTTCTGTGAGCC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation