Incidental Mutation 'IGL02954:Nars2'
| ID |
365058 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nars2
|
| Ensembl Gene |
ENSMUSG00000018995 |
| Gene Name |
asparaginyl-tRNA synthetase 2 (mitochondrial)(putative) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
96600712-96713965 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 96689100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044466]
[ENSMUST00000044466]
[ENSMUST00000044466]
[ENSMUST00000107159]
[ENSMUST00000107159]
[ENSMUST00000107159]
[ENSMUST00000150681]
|
| AlphaFold |
Q8BGV0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044466
|
| SMART Domains |
Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
44 |
118 |
2.4e-12 |
PFAM |
|
Pfam:tRNA-synt_2
|
135 |
472 |
1.4e-100 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000044466
|
| SMART Domains |
Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
44 |
118 |
2.4e-12 |
PFAM |
|
Pfam:tRNA-synt_2
|
135 |
472 |
1.4e-100 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000044466
|
| SMART Domains |
Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
44 |
118 |
2.4e-12 |
PFAM |
|
Pfam:tRNA-synt_2
|
135 |
472 |
1.4e-100 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107159
|
| SMART Domains |
Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
44 |
118 |
7.6e-14 |
PFAM |
|
Pfam:tRNA-synt_2
|
135 |
390 |
5.4e-53 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107159
|
| SMART Domains |
Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
44 |
118 |
7.6e-14 |
PFAM |
|
Pfam:tRNA-synt_2
|
135 |
390 |
5.4e-53 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107159
|
| SMART Domains |
Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
44 |
118 |
7.6e-14 |
PFAM |
|
Pfam:tRNA-synt_2
|
135 |
390 |
5.4e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122835
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206109
|
| 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 putative member of the class II 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 asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [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 |
|---|
| Abcb1a |
G |
T |
5: 8,782,341 (GRCm39) |
R908L |
probably benign |
Het |
| Abcc9 |
T |
C |
6: 142,592,007 (GRCm39) |
N774S |
probably damaging |
Het |
| Alpk2 |
C |
T |
18: 65,439,207 (GRCm39) |
V729I |
probably benign |
Het |
| Atf3 |
T |
C |
1: 190,903,852 (GRCm39) |
N125D |
probably damaging |
Het |
| Bcat1 |
C |
T |
6: 144,964,945 (GRCm39) |
G215D |
probably damaging |
Het |
| Bptf |
G |
T |
11: 106,945,575 (GRCm39) |
Q2555K |
possibly damaging |
Het |
| Cthrc1 |
A |
G |
15: 38,940,389 (GRCm39) |
|
probably benign |
Het |
| Cyp2c38 |
A |
G |
19: 39,379,520 (GRCm39) |
M443T |
probably damaging |
Het |
| D6Wsu163e |
C |
T |
6: 126,951,441 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,441,003 (GRCm39) |
E3D |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,923,809 (GRCm39) |
R1259L |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,009,793 (GRCm39) |
L698P |
probably damaging |
Het |
| Ebag9 |
A |
C |
15: 44,493,601 (GRCm39) |
H141P |
probably benign |
Het |
| Emilin2 |
T |
C |
17: 71,563,526 (GRCm39) |
R840G |
probably benign |
Het |
| Faap100 |
A |
T |
11: 120,262,957 (GRCm39) |
H800Q |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,437,301 (GRCm39) |
I266N |
probably damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,239,302 (GRCm39) |
|
probably benign |
Het |
| Gm17334 |
A |
G |
11: 53,663,654 (GRCm39) |
|
probably benign |
Het |
| Gm5773 |
G |
T |
3: 93,680,358 (GRCm39) |
W10L |
probably benign |
Het |
| Gng13 |
T |
C |
17: 25,937,726 (GRCm39) |
Y18H |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,990,838 (GRCm39) |
S2113P |
probably damaging |
Het |
| Ift81 |
A |
T |
5: 122,748,248 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
A |
C |
10: 120,012,147 (GRCm39) |
L206V |
probably damaging |
Het |
| Kcng4 |
C |
T |
8: 120,359,792 (GRCm39) |
A195T |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,814,648 (GRCm39) |
V234A |
probably benign |
Het |
| Or12j4 |
A |
T |
7: 140,046,353 (GRCm39) |
K80* |
probably null |
Het |
| Or1o4 |
T |
A |
17: 37,591,195 (GRCm39) |
N39Y |
probably damaging |
Het |
| Patz1 |
A |
G |
11: 3,241,761 (GRCm39) |
Y383C |
probably damaging |
Het |
| Pdcd5 |
T |
C |
7: 35,343,089 (GRCm39) |
Y152C |
probably damaging |
Het |
| Phkg1 |
A |
G |
5: 129,894,910 (GRCm39) |
W214R |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,301,649 (GRCm39) |
L1459P |
probably damaging |
Het |
| Pspc1 |
G |
A |
14: 57,009,217 (GRCm39) |
P206S |
probably benign |
Het |
| St7 |
A |
T |
6: 17,848,030 (GRCm39) |
N198I |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,349,015 (GRCm39) |
D249G |
probably damaging |
Het |
| Taf1c |
T |
C |
8: 120,327,225 (GRCm39) |
Y418C |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,938,153 (GRCm39) |
V965A |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,159,180 (GRCm39) |
N458S |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,315 (GRCm39) |
Y122C |
probably benign |
Het |
|
| Other mutations in Nars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00796:Nars2
|
APN |
7 |
96,680,787 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL00796:Nars2
|
APN |
7 |
96,680,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Nars2
|
APN |
7 |
96,651,997 (GRCm39) |
splice site |
probably benign |
|
|
IGL03256:Nars2
|
APN |
7 |
96,689,117 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03394:Nars2
|
APN |
7 |
96,689,220 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0600:Nars2
|
UTSW |
7 |
96,689,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0943:Nars2
|
UTSW |
7 |
96,605,138 (GRCm39) |
splice site |
probably benign |
|
|
R1389:Nars2
|
UTSW |
7 |
96,652,036 (GRCm39) |
missense |
probably benign |
|
|
R4076:Nars2
|
UTSW |
7 |
96,607,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4397:Nars2
|
UTSW |
7 |
96,622,771 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4758:Nars2
|
UTSW |
7 |
96,622,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Nars2
|
UTSW |
7 |
96,684,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Nars2
|
UTSW |
7 |
96,672,948 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5162:Nars2
|
UTSW |
7 |
96,709,027 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6209:Nars2
|
UTSW |
7 |
96,706,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7464:Nars2
|
UTSW |
7 |
96,689,137 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7979:Nars2
|
UTSW |
7 |
96,711,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8284:Nars2
|
UTSW |
7 |
96,600,845 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R8885:Nars2
|
UTSW |
7 |
96,652,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9614:Nars2
|
UTSW |
7 |
96,689,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9658:Nars2
|
UTSW |
7 |
96,689,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Nars2
|
UTSW |
7 |
96,601,104 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2015-12-18 |
Incidental Mutation