Incidental Mutation 'R5295:Ears2'
| ID |
405358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ears2
|
| Ensembl Gene |
ENSMUSG00000030871 |
| Gene Name |
glutamyl-tRNA synthetase 2, mitochondrial |
| Synonyms |
3230401I01Rik |
| MMRRC Submission |
042878-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5295 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
121636436-121666486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121647421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 288
(R288G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033159]
|
| AlphaFold |
Q9CXJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033159
AA Change: R288G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033159
Gene: ENSMUSG00000030871
AA Change: R288G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1c
|
36 |
353 |
3.5e-88 |
PFAM |
|
low complexity region
|
448 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151530
|
| Meta Mutation Damage Score |
0.9717 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in a similar gene in human have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). [provided by RefSeq, Mar 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
C |
T |
18: 65,438,109 (GRCm39) |
E1095K |
probably damaging |
Het |
| Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
| Cbln3 |
T |
C |
14: 56,120,920 (GRCm39) |
|
probably null |
Het |
| Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Commd5 |
C |
A |
15: 76,785,152 (GRCm39) |
T183K |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,239 (GRCm39) |
E493G |
possibly damaging |
Het |
| Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
| Fam186b |
T |
A |
15: 99,181,755 (GRCm39) |
I148F |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Ighv1-77 |
T |
A |
12: 115,825,528 (GRCm39) |
S104C |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
| Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,876,376 (GRCm39) |
K571N |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
| Ly6f |
A |
G |
15: 75,143,488 (GRCm39) |
Q65R |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
| Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
| Prl7d1 |
A |
T |
13: 27,893,230 (GRCm39) |
V227D |
probably damaging |
Het |
| Prss54 |
T |
C |
8: 96,291,106 (GRCm39) |
T165A |
probably damaging |
Het |
| Psrc1 |
A |
G |
3: 108,293,675 (GRCm39) |
I195V |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,642 (GRCm39) |
T2284S |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,114,637 (GRCm39) |
E333G |
probably damaging |
Het |
| Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,986 (GRCm39) |
D90N |
probably damaging |
Het |
| Tdh |
T |
C |
14: 63,733,558 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,656,771 (GRCm39) |
L800P |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,306,248 (GRCm39) |
D251G |
probably benign |
Het |
|
| Other mutations in Ears2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Ears2
|
APN |
7 |
121,638,985 (GRCm39) |
nonsense |
probably null |
|
|
IGL00870:Ears2
|
APN |
7 |
121,654,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01434:Ears2
|
APN |
7 |
121,662,311 (GRCm39) |
splice site |
probably benign |
|
|
IGL01676:Ears2
|
APN |
7 |
121,643,781 (GRCm39) |
missense |
probably benign |
|
|
IGL02341:Ears2
|
APN |
7 |
121,638,987 (GRCm39) |
missense |
probably benign |
|
|
IGL02355:Ears2
|
APN |
7 |
121,643,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02362:Ears2
|
APN |
7 |
121,643,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02932:Ears2
|
APN |
7 |
121,662,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Ears2
|
UTSW |
7 |
121,647,562 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0555:Ears2
|
UTSW |
7 |
121,647,667 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0582:Ears2
|
UTSW |
7 |
121,654,881 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0588:Ears2
|
UTSW |
7 |
121,643,514 (GRCm39) |
splice site |
probably benign |
|
|
R0733:Ears2
|
UTSW |
7 |
121,647,352 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1316:Ears2
|
UTSW |
7 |
121,645,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1916:Ears2
|
UTSW |
7 |
121,643,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2862:Ears2
|
UTSW |
7 |
121,662,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4634:Ears2
|
UTSW |
7 |
121,643,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4686:Ears2
|
UTSW |
7 |
121,647,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Ears2
|
UTSW |
7 |
121,643,683 (GRCm39) |
intron |
probably benign |
|
|
R5275:Ears2
|
UTSW |
7 |
121,647,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Ears2
|
UTSW |
7 |
121,643,600 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5386:Ears2
|
UTSW |
7 |
121,643,600 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6510:Ears2
|
UTSW |
7 |
121,662,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Ears2
|
UTSW |
7 |
121,647,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Ears2
|
UTSW |
7 |
121,647,563 (GRCm39) |
missense |
probably benign |
|
|
R9350:Ears2
|
UTSW |
7 |
121,643,786 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Ears2
|
UTSW |
7 |
121,654,933 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1176:Ears2
|
UTSW |
7 |
121,643,804 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTGTCCAAGATCACGTG -3'
(R):5'- AAAAGTGACGGCTTTCCCACC -3'
Sequencing Primer
(F):5'- CCTGTCCAAGATCACGTGATAGGTG -3'
(R):5'- CTACCACCTAGCCTGTGTGGTAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation