Incidental Mutation 'IGL00538:Taco1'
| ID |
4480 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taco1
|
| Ensembl Gene |
ENSMUSG00000001983 |
| Gene Name |
translational activator of mitochondrially encoded cytochrome c oxidase I |
| Synonyms |
Ccdc44, 2310066I18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
IGL00538
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
105956887-105964438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105962805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 164
(I164N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002048]
|
| AlphaFold |
Q8K0Z7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002048
AA Change: I164N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002048
Gene: ENSMUSG00000001983
AA Change: I164N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transcrip_reg
|
58 |
293 |
1.1e-64 |
PFAM |
|
| 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 mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous null mice exhibit retinal neuron degeneration, cardiohypertrophy and motor dysfunction as a result of isolated complex IV deficiency. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl9 |
T |
A |
5: 77,151,903 (GRCm39) |
M1K |
probably null |
Het |
| Asf1a |
T |
C |
10: 53,482,227 (GRCm39) |
L13P |
probably damaging |
Het |
| Atg2b |
T |
G |
12: 105,611,175 (GRCm39) |
H1252P |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,451,783 (GRCm39) |
R216* |
probably null |
Het |
| Cdc42ep3 |
G |
A |
17: 79,642,884 (GRCm39) |
A12V |
possibly damaging |
Het |
| Cntn3 |
G |
A |
6: 102,397,223 (GRCm39) |
Q117* |
probably null |
Het |
| Cyp3a41b |
G |
A |
5: 145,515,010 (GRCm39) |
|
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,408,466 (GRCm39) |
E124G |
probably benign |
Het |
| Galnt7 |
T |
A |
8: 58,005,556 (GRCm39) |
T226S |
possibly damaging |
Het |
| H2al3 |
T |
A |
X: 9,716,244 (GRCm39) |
|
probably benign |
Het |
| Ighv1-7 |
C |
A |
12: 114,502,381 (GRCm39) |
E29* |
probably null |
Het |
| Iqcb1 |
G |
T |
16: 36,678,948 (GRCm39) |
V421F |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,755,076 (GRCm39) |
V284I |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,376,779 (GRCm39) |
Y161N |
probably damaging |
Het |
| Slc14a1 |
A |
T |
18: 78,147,288 (GRCm39) |
F313Y |
probably damaging |
Het |
| Tenm3 |
G |
T |
8: 48,689,060 (GRCm39) |
H2176N |
probably damaging |
Het |
| Tmem156 |
T |
C |
5: 65,231,183 (GRCm39) |
Y165C |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 56,921,622 (GRCm39) |
N731K |
possibly damaging |
Het |
| Ubox5 |
T |
C |
2: 130,441,808 (GRCm39) |
N293S |
probably damaging |
Het |
|
| Other mutations in Taco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02951:Taco1
|
APN |
11 |
105,960,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2204:Taco1
|
UTSW |
11 |
105,962,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3498:Taco1
|
UTSW |
11 |
105,963,364 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5089:Taco1
|
UTSW |
11 |
105,960,437 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5353:Taco1
|
UTSW |
11 |
105,963,539 (GRCm39) |
splice site |
probably null |
|
|
R6262:Taco1
|
UTSW |
11 |
105,962,693 (GRCm39) |
nonsense |
probably null |
|
|
R6952:Taco1
|
UTSW |
11 |
105,963,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7326:Taco1
|
UTSW |
11 |
105,963,443 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7527:Taco1
|
UTSW |
11 |
105,962,795 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7552:Taco1
|
UTSW |
11 |
105,962,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7760:Taco1
|
UTSW |
11 |
105,963,938 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9006:Taco1
|
UTSW |
11 |
105,956,931 (GRCm39) |
start gained |
probably benign |
|
|
R9293:Taco1
|
UTSW |
11 |
105,963,930 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9572:Taco1
|
UTSW |
11 |
105,963,938 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Posted On |
2012-04-20 |
Incidental Mutation