Incidental Mutation 'IGL02154:Cox20'
ID |
282172 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cox20
|
Ensembl Gene |
ENSMUSG00000026500 |
Gene Name |
cytochrome c oxidase assembly protein 20 |
Synonyms |
Fam36a, 2310005N03Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02154
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
178146695-178150258 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 178150119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 98
(I98V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027781]
[ENSMUST00000037748]
[ENSMUST00000161769]
|
AlphaFold |
Q9D7J4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027781
AA Change: I98V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000027781 Gene: ENSMUSG00000026500 AA Change: I98V
Domain | Start | End | E-Value | Type |
Pfam:DUF3767
|
9 |
104 |
5.4e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000037748
|
SMART Domains |
Protein: ENSMUSP00000047571 Gene: ENSMUSG00000039630
Domain | Start | End | E-Value | Type |
SAP
|
8 |
42 |
3.57e-11 |
SMART |
low complexity region
|
70 |
96 |
N/A |
INTRINSIC |
low complexity region
|
101 |
154 |
N/A |
INTRINSIC |
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
low complexity region
|
194 |
207 |
N/A |
INTRINSIC |
SPRY
|
307 |
439 |
2.35e-34 |
SMART |
Pfam:AAA_33
|
475 |
619 |
2e-30 |
PFAM |
coiled coil region
|
626 |
653 |
N/A |
INTRINSIC |
low complexity region
|
657 |
675 |
N/A |
INTRINSIC |
low complexity region
|
676 |
732 |
N/A |
INTRINSIC |
low complexity region
|
736 |
750 |
N/A |
INTRINSIC |
low complexity region
|
753 |
791 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159117
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161769
|
SMART Domains |
Protein: ENSMUSP00000124147 Gene: ENSMUSG00000039630
Domain | Start | End | E-Value | Type |
SAP
|
8 |
42 |
3.57e-11 |
SMART |
low complexity region
|
70 |
96 |
N/A |
INTRINSIC |
low complexity region
|
101 |
154 |
N/A |
INTRINSIC |
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
low complexity region
|
194 |
207 |
N/A |
INTRINSIC |
SPRY
|
307 |
439 |
2.35e-34 |
SMART |
Pfam:AAA_33
|
475 |
619 |
6.7e-31 |
PFAM |
coiled coil region
|
626 |
653 |
N/A |
INTRINSIC |
low complexity region
|
657 |
675 |
N/A |
INTRINSIC |
low complexity region
|
676 |
732 |
N/A |
INTRINSIC |
low complexity region
|
736 |
750 |
N/A |
INTRINSIC |
low complexity region
|
753 |
773 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162916
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189450
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188044
|
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 protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Armh4 |
G |
A |
14: 50,010,399 (GRCm39) |
T436I |
possibly damaging |
Het |
AW551984 |
G |
A |
9: 39,500,398 (GRCm39) |
R787C |
possibly damaging |
Het |
Cadm1 |
A |
T |
9: 47,725,201 (GRCm39) |
I321L |
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,470,214 (GRCm39) |
L222P |
probably damaging |
Het |
Dmrta1 |
A |
G |
4: 89,580,150 (GRCm39) |
N370S |
probably benign |
Het |
Dnah17 |
A |
G |
11: 118,015,087 (GRCm39) |
F386L |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,320,559 (GRCm39) |
I1323V |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,592,266 (GRCm39) |
S211P |
probably damaging |
Het |
Galnt10 |
T |
G |
11: 57,675,531 (GRCm39) |
L597V |
probably damaging |
Het |
Gtf2e2 |
T |
C |
8: 34,245,989 (GRCm39) |
|
probably null |
Het |
Inpp4b |
T |
A |
8: 82,696,130 (GRCm39) |
|
probably benign |
Het |
Irag2 |
T |
G |
6: 145,083,967 (GRCm39) |
M44R |
possibly damaging |
Het |
Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,740,395 (GRCm39) |
D3750G |
probably benign |
Het |
Mme |
A |
T |
3: 63,250,976 (GRCm39) |
Q339L |
probably benign |
Het |
Mmp3 |
A |
T |
9: 7,453,662 (GRCm39) |
I428L |
probably benign |
Het |
Myrf |
A |
T |
19: 10,193,482 (GRCm39) |
I558N |
probably damaging |
Het |
Or52e8 |
C |
T |
7: 104,625,188 (GRCm39) |
M1I |
probably null |
Het |
Phb1 |
A |
G |
11: 95,565,997 (GRCm39) |
I94V |
possibly damaging |
Het |
Prg4 |
T |
A |
1: 150,330,613 (GRCm39) |
|
probably benign |
Het |
Sirpb1a |
T |
C |
3: 15,475,504 (GRCm39) |
T344A |
probably damaging |
Het |
Skap2 |
T |
C |
6: 51,989,308 (GRCm39) |
|
probably benign |
Het |
Slc29a1 |
A |
G |
17: 45,897,089 (GRCm39) |
I399T |
probably damaging |
Het |
Sorl1 |
C |
T |
9: 41,915,330 (GRCm39) |
V1300I |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,678 (GRCm39) |
V272A |
probably benign |
Het |
Tctn2 |
C |
A |
5: 124,746,624 (GRCm39) |
|
noncoding transcript |
Het |
Tmem51 |
T |
C |
4: 141,759,089 (GRCm39) |
N220D |
probably damaging |
Het |
Trak2 |
T |
C |
1: 58,947,888 (GRCm39) |
D584G |
probably damaging |
Het |
Vmn1r78 |
A |
G |
7: 11,886,472 (GRCm39) |
I28V |
probably benign |
Het |
Vmn2r95 |
A |
C |
17: 18,672,248 (GRCm39) |
I662L |
probably benign |
Het |
Vwa8 |
C |
A |
14: 79,086,733 (GRCm39) |
R4S |
possibly damaging |
Het |
|
Other mutations in Cox20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02318:Cox20
|
APN |
1 |
178,150,043 (GRCm39) |
splice site |
probably null |
|
R2128:Cox20
|
UTSW |
1 |
178,149,512 (GRCm39) |
missense |
probably benign |
0.00 |
R4551:Cox20
|
UTSW |
1 |
178,150,114 (GRCm39) |
missense |
probably benign |
0.15 |
R5344:Cox20
|
UTSW |
1 |
178,149,598 (GRCm39) |
unclassified |
probably benign |
|
R6155:Cox20
|
UTSW |
1 |
178,149,362 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7653:Cox20
|
UTSW |
1 |
178,150,164 (GRCm39) |
missense |
probably benign |
0.05 |
R7780:Cox20
|
UTSW |
1 |
178,149,566 (GRCm39) |
missense |
probably benign |
0.20 |
R7840:Cox20
|
UTSW |
1 |
178,150,126 (GRCm39) |
missense |
probably benign |
0.04 |
R9332:Cox20
|
UTSW |
1 |
178,146,771 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |