Incidental Mutation 'IGL02901:Cox6a2'
| ID |
363607 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cox6a2
|
| Ensembl Gene |
ENSMUSG00000030785 |
| Gene Name |
cytochrome c oxidase subunit 6A2 |
| Synonyms |
VIaH, subunit VIaH (heart-type), COXVIaH |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.395)
|
| Stock # |
IGL02901
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127804607-127805538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 127805454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 5
(L5R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033049]
[ENSMUST00000033051]
[ENSMUST00000106237]
[ENSMUST00000176249]
[ENSMUST00000177111]
[ENSMUST00000177383]
|
| AlphaFold |
P43023 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033049
AA Change: L5R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033049
Gene: ENSMUSG00000030785
AA Change: L5R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX6A
|
10 |
90 |
4.8e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033051
|
| SMART Domains |
Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Int_alpha
|
38 |
88 |
1.35e1 |
SMART |
|
VWA
|
155 |
376 |
1.24e-36 |
SMART |
|
Blast:VWA
|
405 |
436 |
1e-9 |
BLAST |
|
Int_alpha
|
443 |
492 |
3.67e-3 |
SMART |
|
Int_alpha
|
496 |
553 |
1.03e-6 |
SMART |
|
Int_alpha
|
559 |
615 |
1.73e-13 |
SMART |
|
Int_alpha
|
622 |
676 |
1.69e-2 |
SMART |
|
transmembrane domain
|
1142 |
1164 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1165 |
1179 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106237
|
| SMART Domains |
Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
| Domain | Start | End | E-Value | Type |
|---|
|
Int_alpha
|
40 |
90 |
1.35e1 |
SMART |
|
VWA
|
157 |
342 |
1.31e-44 |
SMART |
|
Blast:VWA
|
371 |
402 |
9e-10 |
BLAST |
|
Int_alpha
|
409 |
458 |
3.67e-3 |
SMART |
|
Int_alpha
|
462 |
519 |
1.03e-6 |
SMART |
|
Int_alpha
|
525 |
581 |
1.73e-13 |
SMART |
|
Int_alpha
|
588 |
642 |
1.69e-2 |
SMART |
|
transmembrane domain
|
1108 |
1130 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1131 |
1145 |
4.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176249
|
| SMART Domains |
Protein: ENSMUSP00000135309
Gene: ENSMUSG00000070369
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3K72|C
|
1 |
37 |
5e-11 |
PDB |
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177111
|
| SMART Domains |
Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Int_alpha
|
38 |
88 |
1.35e1 |
SMART |
|
VWA
|
155 |
340 |
1.31e-44 |
SMART |
|
Blast:VWA
|
369 |
400 |
9e-10 |
BLAST |
|
Int_alpha
|
407 |
456 |
3.67e-3 |
SMART |
|
Int_alpha
|
460 |
517 |
1.03e-6 |
SMART |
|
Int_alpha
|
523 |
579 |
1.73e-13 |
SMART |
|
Int_alpha
|
586 |
640 |
1.69e-2 |
SMART |
|
transmembrane domain
|
1106 |
1128 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1129 |
1143 |
5.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177383
|
| SMART Domains |
Protein: ENSMUSP00000135104
Gene: ENSMUSG00000070369
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3K72|C
|
2 |
34 |
1e-9 |
PDB |
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
70 |
84 |
2.9e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205646
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation exhibit cardiac dysfunction as a result of abnormal ventricular filling or diastolic dysfunction under maximal cardiac load. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
A |
T |
2: 131,403,524 (GRCm39) |
Y189N |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,792,245 (GRCm39) |
D1162G |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,439,482 (GRCm39) |
M637T |
probably benign |
Het |
| Arvcf |
G |
A |
16: 18,216,992 (GRCm39) |
A440T |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,532 (GRCm39) |
V51E |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,522,529 (GRCm39) |
V164E |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,483,696 (GRCm39) |
L849* |
probably null |
Het |
| Dclk1 |
A |
G |
3: 55,395,208 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
T |
A |
17: 15,627,964 (GRCm39) |
|
probably benign |
Het |
| Iqub |
A |
G |
6: 24,454,194 (GRCm39) |
L563P |
probably damaging |
Het |
| Itgb3 |
A |
T |
11: 104,528,772 (GRCm39) |
I300F |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,844,583 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,747,632 (GRCm39) |
I411T |
probably benign |
Het |
| Misp |
A |
T |
10: 79,662,771 (GRCm39) |
Y396F |
possibly damaging |
Het |
| Nhsl2 |
T |
A |
X: 101,122,849 (GRCm39) |
V884D |
probably benign |
Het |
| Nxf7 |
A |
T |
X: 134,487,984 (GRCm39) |
|
probably null |
Het |
| Or10al4 |
T |
A |
17: 38,037,311 (GRCm39) |
I132K |
probably damaging |
Het |
| Or4b12 |
G |
A |
2: 90,096,052 (GRCm39) |
H241Y |
probably damaging |
Het |
| Palld |
T |
A |
8: 62,330,029 (GRCm39) |
K283* |
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Proc |
T |
G |
18: 32,256,678 (GRCm39) |
T330P |
possibly damaging |
Het |
| Prpf38a |
T |
C |
4: 108,425,615 (GRCm39) |
D221G |
probably damaging |
Het |
| Prss55 |
T |
A |
14: 64,314,576 (GRCm39) |
N198I |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,959,138 (GRCm39) |
S10P |
probably benign |
Het |
| Sbk2 |
A |
G |
7: 4,960,289 (GRCm39) |
Y294H |
possibly damaging |
Het |
| Smyd1 |
A |
G |
6: 71,215,614 (GRCm39) |
V115A |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,649,207 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,787,347 (GRCm39) |
N751S |
probably damaging |
Het |
| Upk1a |
A |
T |
7: 30,303,204 (GRCm39) |
M241K |
possibly damaging |
Het |
| Vmn2r71 |
A |
C |
7: 85,268,470 (GRCm39) |
E224D |
probably benign |
Het |
| Vmn2r81 |
C |
T |
10: 79,106,564 (GRCm39) |
T514I |
probably damaging |
Het |
| Zkscan16 |
T |
C |
4: 58,946,283 (GRCm39) |
W53R |
probably damaging |
Het |
|
| Other mutations in Cox6a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02336:Cox6a2
|
APN |
7 |
127,805,103 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03347:Cox6a2
|
APN |
7 |
127,804,900 (GRCm39) |
unclassified |
probably benign |
|
|
R0008:Cox6a2
|
UTSW |
7 |
127,805,212 (GRCm39) |
unclassified |
probably benign |
|
|
R0309:Cox6a2
|
UTSW |
7 |
127,805,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0865:Cox6a2
|
UTSW |
7 |
127,804,995 (GRCm39) |
unclassified |
probably benign |
|
|
R4581:Cox6a2
|
UTSW |
7 |
127,805,152 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6269:Cox6a2
|
UTSW |
7 |
127,805,437 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9338:Cox6a2
|
UTSW |
7 |
127,804,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation