Incidental Mutation 'R8275:Oxa1l'
ID |
637956 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oxa1l
|
Ensembl Gene |
ENSMUSG00000000959 |
Gene Name |
oxidase assembly 1-like |
Synonyms |
1810020M02Rik |
MMRRC Submission |
067698-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8275 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
54598298-54607130 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 54600758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 77
(I77N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000985]
|
AlphaFold |
Q8BGA9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000985
AA Change: I77N
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000000985 Gene: ENSMUSG00000000959 AA Change: I77N
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 |
noncoding transcript
Transcript: ENSMUST00000196882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228567
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228719
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (39/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alx1 |
T |
C |
10: 102,864,250 (GRCm39) |
D73G |
probably benign |
Het |
Asah1 |
G |
A |
8: 41,801,159 (GRCm39) |
H156Y |
probably damaging |
Het |
Cgn |
G |
A |
3: 94,682,263 (GRCm39) |
L439F |
possibly damaging |
Het |
Creb1 |
C |
A |
1: 64,597,687 (GRCm39) |
T7K |
probably benign |
Het |
Cyp2c54 |
T |
A |
19: 40,026,749 (GRCm39) |
I469L |
probably benign |
Het |
Cyp2s1 |
T |
A |
7: 25,508,735 (GRCm39) |
T236S |
probably benign |
Het |
Duox1 |
T |
C |
2: 122,175,249 (GRCm39) |
I1349T |
probably benign |
Het |
Efhd2 |
C |
T |
4: 141,602,073 (GRCm39) |
A36T |
probably benign |
Het |
Espl1 |
G |
A |
15: 102,211,188 (GRCm39) |
|
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat3 |
T |
A |
9: 16,158,046 (GRCm39) |
Q1188L |
probably damaging |
Het |
Flt1 |
A |
T |
5: 147,614,957 (GRCm39) |
Y330N |
probably damaging |
Het |
Golga4 |
A |
T |
9: 118,361,627 (GRCm39) |
S202C |
probably damaging |
Het |
Htr2b |
C |
T |
1: 86,030,294 (GRCm39) |
D134N |
probably damaging |
Het |
Katna1 |
T |
A |
10: 7,628,574 (GRCm39) |
C268S |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,948,807 (GRCm39) |
Y857H |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,950,667 (GRCm39) |
I3741T |
probably benign |
Het |
Mcm4 |
T |
C |
16: 15,452,435 (GRCm39) |
I233V |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,303,792 (GRCm39) |
V286A |
possibly damaging |
Het |
Nav3 |
C |
A |
10: 109,527,984 (GRCm39) |
G1503V |
noncoding transcript |
Het |
Obox1 |
T |
A |
7: 15,290,153 (GRCm39) |
N165K |
probably damaging |
Het |
Or11g2 |
T |
A |
14: 50,855,868 (GRCm39) |
M63K |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,886,329 (GRCm39) |
|
probably null |
Het |
Papss2 |
T |
C |
19: 32,615,760 (GRCm39) |
L164P |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,292,501 (GRCm39) |
|
probably benign |
Het |
Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
Rsph10b |
C |
G |
5: 143,903,323 (GRCm39) |
T606S |
possibly damaging |
Het |
Siglecg |
T |
C |
7: 43,061,892 (GRCm39) |
V546A |
probably benign |
Het |
Slc22a29 |
T |
C |
19: 8,146,681 (GRCm39) |
S374G |
probably benign |
Het |
Tia1 |
C |
T |
6: 86,404,718 (GRCm39) |
Q318* |
probably null |
Het |
Trpm2 |
T |
A |
10: 77,801,859 (GRCm39) |
K69* |
probably null |
Het |
Unc80 |
C |
T |
1: 66,679,773 (GRCm39) |
R2115* |
probably null |
Het |
Usp35 |
A |
G |
7: 96,964,026 (GRCm39) |
S436P |
probably damaging |
Het |
Vmn1r220 |
A |
T |
13: 23,368,483 (GRCm39) |
L71* |
probably null |
Het |
Vmn2r15 |
A |
T |
5: 109,434,150 (GRCm39) |
D851E |
probably benign |
Het |
Vps33a |
A |
T |
5: 123,707,522 (GRCm39) |
D148E |
probably damaging |
Het |
Zfp729a |
G |
A |
13: 67,768,223 (GRCm39) |
H669Y |
probably benign |
Het |
Zfp804b |
C |
T |
5: 6,822,289 (GRCm39) |
R258Q |
probably benign |
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 |
|
R6162:Oxa1l
|
UTSW |
14 |
54,605,789 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TCTCTTAAGTTATCCTGCTAGAGGC -3'
(R):5'- CTTACACGTGGCAATGGCTC -3'
Sequencing Primer
(F):5'- CACCATTGGCCATCATTG -3'
(R):5'- TGGCAATGGCTCCCCAC -3'
|
Posted On |
2020-07-28 |