Incidental Mutation 'R6162:Oxa1l'
| ID |
489933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxa1l
|
| Ensembl Gene |
ENSMUSG00000000959 |
| Gene Name |
oxidase assembly 1-like |
| Synonyms |
1810020M02Rik |
| MMRRC Submission |
044309-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
54598298-54607130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54605789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 395
(T395A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000984]
[ENSMUST00000000985]
[ENSMUST00000195970]
[ENSMUST00000197440]
[ENSMUST00000226753]
|
| AlphaFold |
Q8BGA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000984
|
| SMART Domains |
Protein: ENSMUSP00000000984
Gene: ENSMUSG00000000958
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
38 |
463 |
2e-64 |
PFAM |
|
Pfam:AA_permease
|
43 |
463 |
6.3e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000985
AA Change: T395A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959
AA Change: T395A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
|
Pfam:60KD_IMP
|
135 |
330 |
4.1e-28 |
PFAM |
|
low complexity region
|
406 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195970
|
| SMART Domains |
Protein: ENSMUSP00000143091
Gene: ENSMUSG00000000958
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
38 |
462 |
6.4e-66 |
PFAM |
|
Pfam:AA_permease
|
43 |
467 |
5.3e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197440
|
| SMART Domains |
Protein: ENSMUSP00000143743
Gene: ENSMUSG00000000958
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
38 |
463 |
2e-64 |
PFAM |
|
Pfam:AA_permease
|
43 |
463 |
6.3e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226753
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228719
|
| Meta Mutation Damage Score |
0.1353 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,259,047 (GRCm39) |
C2924W |
probably damaging |
Het |
| Adh4 |
T |
A |
3: 138,121,250 (GRCm39) |
|
probably null |
Het |
| Aox3 |
A |
T |
1: 58,198,890 (GRCm39) |
D695V |
possibly damaging |
Het |
| Ccnj |
A |
G |
19: 40,833,606 (GRCm39) |
Y221C |
probably damaging |
Het |
| Cct2 |
T |
A |
10: 116,894,091 (GRCm39) |
D221V |
probably damaging |
Het |
| Cd5 |
G |
A |
19: 10,703,244 (GRCm39) |
T138M |
probably damaging |
Het |
| Cep78 |
A |
T |
19: 15,952,304 (GRCm39) |
M307K |
probably benign |
Het |
| Dclk1 |
C |
A |
3: 55,163,575 (GRCm39) |
D222E |
probably benign |
Het |
| Dhrs11 |
C |
T |
11: 84,719,605 (GRCm39) |
G40D |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,900,382 (GRCm39) |
S3823G |
probably benign |
Het |
| Dnai3 |
T |
A |
3: 145,750,617 (GRCm39) |
I821F |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,841,998 (GRCm39) |
Y944N |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,045,318 (GRCm39) |
D17G |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fam20a |
G |
T |
11: 109,573,696 (GRCm39) |
S229* |
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,202,147 (GRCm39) |
D1242G |
probably damaging |
Het |
| Ggt5 |
T |
A |
10: 75,425,626 (GRCm39) |
V28D |
possibly damaging |
Het |
| Gimap4 |
A |
T |
6: 48,667,655 (GRCm39) |
I137F |
probably damaging |
Het |
| Git2 |
T |
A |
5: 114,899,717 (GRCm39) |
H212L |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,491,008 (GRCm39) |
I739F |
probably benign |
Het |
| Il1rl2 |
A |
G |
1: 40,391,038 (GRCm39) |
Y327C |
probably damaging |
Het |
| Lmf1 |
A |
G |
17: 25,831,368 (GRCm39) |
I205V |
probably benign |
Het |
| Mipep |
C |
A |
14: 61,024,853 (GRCm39) |
P98Q |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,944,707 (GRCm39) |
D436G |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,881,784 (GRCm39) |
E756V |
possibly damaging |
Het |
| Myorg |
A |
G |
4: 41,497,899 (GRCm39) |
V577A |
possibly damaging |
Het |
| Notch1 |
C |
T |
2: 26,352,207 (GRCm39) |
V2035I |
probably benign |
Het |
| Or1e28-ps1 |
T |
A |
11: 73,615,713 (GRCm39) |
I46F |
probably damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,352,227 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or4c118 |
G |
T |
2: 88,975,114 (GRCm39) |
F84L |
probably benign |
Het |
| Phospho2 |
T |
A |
2: 69,626,375 (GRCm39) |
I177K |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,049,317 (GRCm39) |
T224A |
probably benign |
Het |
| Reln |
T |
A |
5: 22,116,048 (GRCm39) |
T2987S |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,351,621 (GRCm39) |
I787F |
probably damaging |
Het |
| Sgsm2 |
A |
T |
11: 74,782,847 (GRCm39) |
D36E |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,072,401 (GRCm39) |
|
probably null |
Het |
| Tas2r134 |
T |
C |
2: 51,517,571 (GRCm39) |
S17P |
probably damaging |
Het |
| Top3a |
T |
C |
11: 60,636,763 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trem2 |
A |
G |
17: 48,655,694 (GRCm39) |
I84V |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,430 (GRCm39) |
L594P |
probably damaging |
Het |
| Zdbf2 |
A |
T |
1: 63,319,977 (GRCm39) |
|
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
Het |
|
| Other mutations in Oxa1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Oxa1l
|
APN |
14 |
54,600,802 (GRCm39) |
nonsense |
probably null |
|
|
R0196:Oxa1l
|
UTSW |
14 |
54,600,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Oxa1l
|
UTSW |
14 |
54,605,646 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1773:Oxa1l
|
UTSW |
14 |
54,600,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2197:Oxa1l
|
UTSW |
14 |
54,598,924 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5652:Oxa1l
|
UTSW |
14 |
54,604,289 (GRCm39) |
nonsense |
probably null |
|
|
R5850:Oxa1l
|
UTSW |
14 |
54,605,121 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5898:Oxa1l
|
UTSW |
14 |
54,600,758 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6088:Oxa1l
|
UTSW |
14 |
54,605,151 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6869:Oxa1l
|
UTSW |
14 |
54,604,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7244:Oxa1l
|
UTSW |
14 |
54,598,312 (GRCm39) |
start codon destroyed |
probably benign |
0.33 |
|
R7247:Oxa1l
|
UTSW |
14 |
54,598,312 (GRCm39) |
start codon destroyed |
probably benign |
0.33 |
|
R7317:Oxa1l
|
UTSW |
14 |
54,598,312 (GRCm39) |
start codon destroyed |
probably benign |
0.33 |
|
R7562:Oxa1l
|
UTSW |
14 |
54,600,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7939:Oxa1l
|
UTSW |
14 |
54,604,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8018:Oxa1l
|
UTSW |
14 |
54,600,757 (GRCm39) |
missense |
not run |
|
|
R8245:Oxa1l
|
UTSW |
14 |
54,605,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8275:Oxa1l
|
UTSW |
14 |
54,600,758 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8483:Oxa1l
|
UTSW |
14 |
54,606,001 (GRCm39) |
splice site |
probably null |
|
|
R8679:Oxa1l
|
UTSW |
14 |
54,605,248 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTTCTCACACAGGCTGG -3'
(R):5'- AAATGCTGTAGTCCCCAGGG -3'
Sequencing Primer
(F):5'- TTCTTCTCACACAGGCTGGAAGAAC -3'
(R):5'- AGGGCTGGGGCAAGTCTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation