Incidental Mutation 'IGL00960:Sco1'
ID |
28601 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sco1
|
Ensembl Gene |
ENSMUSG00000069844 |
Gene Name |
SCO1 cytochrome c oxidase assembly protein |
Synonyms |
2610001C07Rik, D11Bwg1310e |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00960
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
66943496-66957896 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 66954864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glutamine
at position 290
(*290Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104330
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092996]
[ENSMUST00000108690]
|
AlphaFold |
Q5SUC9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000092996
AA Change: *285Q
|
SMART Domains |
Protein: ENSMUSP00000090673 Gene: ENSMUSG00000069844 AA Change: *285Q
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
Pfam:SCO1-SenC
|
81 |
265 |
1.5e-48 |
PFAM |
Pfam:AhpC-TSA
|
118 |
250 |
9.8e-8 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108690
AA Change: *290Q
|
SMART Domains |
Protein: ENSMUSP00000104330 Gene: ENSMUSG00000069844 AA Change: *290Q
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
Pfam:SCO1-SenC
|
91 |
270 |
2.4e-49 |
PFAM |
Pfam:AhpC-TSA
|
125 |
254 |
7.6e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136984
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137779
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a conditional allele knocked out in the liver exhibit weight loss, premature death, spleen atrophy, reduced white blood cells, increased mitochondria proliferation, increased iron levels in the liver and spleen, and decreased copper levels in the liver and kidney. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
C |
A |
17: 46,634,671 (GRCm39) |
R444L |
probably damaging |
Het |
Baiap2 |
T |
A |
11: 119,890,118 (GRCm39) |
S460T |
possibly damaging |
Het |
Cckar |
A |
G |
5: 53,858,634 (GRCm39) |
Y158H |
probably damaging |
Het |
Cdk4 |
A |
G |
10: 126,900,166 (GRCm39) |
Y21C |
probably damaging |
Het |
Entpd1 |
C |
T |
19: 40,699,714 (GRCm39) |
P42S |
probably benign |
Het |
Epha8 |
A |
T |
4: 136,679,150 (GRCm39) |
|
probably null |
Het |
Fastkd1 |
A |
T |
2: 69,524,997 (GRCm39) |
|
probably benign |
Het |
Fmnl2 |
A |
G |
2: 53,013,494 (GRCm39) |
D951G |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Kcnj5 |
T |
A |
9: 32,233,719 (GRCm39) |
T199S |
probably damaging |
Het |
Med13 |
T |
C |
11: 86,181,866 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
G |
T |
14: 103,466,820 (GRCm39) |
H1314Q |
possibly damaging |
Het |
Ncapd2 |
A |
T |
6: 125,150,811 (GRCm39) |
S795T |
probably benign |
Het |
Nf1 |
T |
C |
11: 79,335,947 (GRCm39) |
S1042P |
probably damaging |
Het |
Nlgn1 |
C |
A |
3: 25,966,861 (GRCm39) |
L197F |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,446,846 (GRCm39) |
Y428C |
probably benign |
Het |
Or10d5j |
A |
G |
9: 39,867,455 (GRCm39) |
Y259H |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,661,589 (GRCm39) |
D1453G |
probably benign |
Het |
Pcdhb8 |
A |
T |
18: 37,489,026 (GRCm39) |
I235F |
probably benign |
Het |
Pclo |
T |
C |
5: 14,725,234 (GRCm39) |
V1364A |
unknown |
Het |
Polq |
T |
C |
16: 36,880,874 (GRCm39) |
S734P |
probably damaging |
Het |
Slc22a3 |
A |
T |
17: 12,644,497 (GRCm39) |
I496N |
probably damaging |
Het |
Slc5a8 |
T |
G |
10: 88,757,627 (GRCm39) |
I539S |
probably benign |
Het |
Tecta |
A |
G |
9: 42,270,376 (GRCm39) |
F1311L |
possibly damaging |
Het |
Tex261 |
A |
T |
6: 83,752,650 (GRCm39) |
I19N |
possibly damaging |
Het |
Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,273,582 (GRCm39) |
S799C |
probably damaging |
Het |
Zar1 |
G |
A |
5: 72,734,628 (GRCm39) |
T197I |
probably damaging |
Het |
Zfa-ps |
A |
G |
10: 52,420,043 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Sco1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01765:Sco1
|
APN |
11 |
66,944,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03103:Sco1
|
APN |
11 |
66,946,568 (GRCm39) |
nonsense |
probably null |
|
R2929:Sco1
|
UTSW |
11 |
66,954,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R3831:Sco1
|
UTSW |
11 |
66,944,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R3832:Sco1
|
UTSW |
11 |
66,944,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R3833:Sco1
|
UTSW |
11 |
66,944,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R4019:Sco1
|
UTSW |
11 |
66,954,846 (GRCm39) |
missense |
probably benign |
|
R4020:Sco1
|
UTSW |
11 |
66,954,846 (GRCm39) |
missense |
probably benign |
|
R4299:Sco1
|
UTSW |
11 |
66,946,626 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4541:Sco1
|
UTSW |
11 |
66,943,668 (GRCm39) |
missense |
probably benign |
0.00 |
R4715:Sco1
|
UTSW |
11 |
66,947,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R5411:Sco1
|
UTSW |
11 |
66,954,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R6344:Sco1
|
UTSW |
11 |
66,946,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R7026:Sco1
|
UTSW |
11 |
66,944,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Sco1
|
UTSW |
11 |
66,944,628 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7819:Sco1
|
UTSW |
11 |
66,949,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R9758:Sco1
|
UTSW |
11 |
66,949,250 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Sco1
|
UTSW |
11 |
66,954,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |