Incidental Mutation 'IGL00796:Nars2'
ID |
12236 |
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 # |
IGL00796
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
96600712-96713965 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 96680786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 319
(L319I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044466]
[ENSMUST00000107159]
|
AlphaFold |
Q8BGV0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044466
AA Change: L319I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000044937 Gene: ENSMUSG00000018995 AA Change: L319I
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 benign
Transcript: ENSMUST00000107159
AA Change: L319I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102777 Gene: ENSMUSG00000018995 AA Change: L319I
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 |
unknown
Transcript: ENSMUST00000122835
AA Change: P70H
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh5 |
A |
G |
3: 138,156,742 (GRCm39) |
T143A |
probably benign |
Het |
Alk |
T |
A |
17: 72,212,137 (GRCm39) |
N802I |
possibly damaging |
Het |
Aspn |
A |
G |
13: 49,710,893 (GRCm39) |
I179M |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,945,376 (GRCm39) |
L2506P |
probably damaging |
Het |
Cacna1f |
T |
A |
X: 7,497,270 (GRCm39) |
D1594E |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,847,271 (GRCm39) |
N1671K |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,250,497 (GRCm39) |
V1706A |
probably damaging |
Het |
Elmo2 |
A |
T |
2: 165,133,934 (GRCm39) |
|
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,291,959 (GRCm39) |
S1108P |
probably benign |
Het |
Fam53a |
A |
T |
5: 33,758,171 (GRCm39) |
D317E |
probably benign |
Het |
Gria2 |
T |
C |
3: 80,618,097 (GRCm39) |
N313D |
probably benign |
Het |
Itch |
A |
T |
2: 155,051,002 (GRCm39) |
H563L |
probably damaging |
Het |
Kdm1a |
G |
A |
4: 136,281,558 (GRCm39) |
A651V |
probably damaging |
Het |
Myb |
T |
G |
10: 21,017,698 (GRCm39) |
Q631P |
probably benign |
Het |
Myh9 |
A |
T |
15: 77,681,195 (GRCm39) |
|
probably benign |
Het |
Pdcl2 |
G |
A |
5: 76,467,022 (GRCm39) |
T57I |
probably damaging |
Het |
Pde6g |
T |
A |
11: 120,341,390 (GRCm39) |
I17L |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 5,157,014 (GRCm39) |
M964K |
probably benign |
Het |
Ssxb2 |
A |
G |
X: 8,324,459 (GRCm39) |
|
probably benign |
Het |
Tonsl |
T |
C |
15: 76,509,349 (GRCm39) |
T8A |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,346,364 (GRCm39) |
M1581T |
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 |
IGL00990:Nars2
|
APN |
7 |
96,651,997 (GRCm39) |
splice site |
probably benign |
|
IGL02954:Nars2
|
APN |
7 |
96,689,100 (GRCm39) |
splice site |
probably null |
|
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 |
2012-12-06 |