Incidental Mutation 'R4541:Sco1'
| ID |
377817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sco1
|
| Ensembl Gene |
ENSMUSG00000069844 |
| Gene Name |
SCO1 cytochrome c oxidase assembly protein |
| Synonyms |
2610001C07Rik, D11Bwg1310e |
| MMRRC Submission |
041777-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4541 (G1)
|
| Quality Score |
57 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
66943496-66957896 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 66943668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 50
(A50S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092996]
[ENSMUST00000108690]
[ENSMUST00000116363]
[ENSMUST00000146338]
|
| AlphaFold |
Q5SUC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092996
AA Change: A50S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090673
Gene: ENSMUSG00000069844
AA Change: A50S
| 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 benign
Transcript: ENSMUST00000108690
AA Change: A50S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000104330
Gene: ENSMUSG00000069844
AA Change: A50S
| 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 |
probably benign
Transcript: ENSMUST00000116363
|
| SMART Domains |
Protein: ENSMUSP00000112064
Gene: ENSMUSG00000020910
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
18 |
282 |
1.8e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146338
|
| SMART Domains |
Protein: ENSMUSP00000137768
Gene: ENSMUSG00000020910
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2NXF|A
|
13 |
199 |
4e-47 |
PDB |
|
SCOP:d1utea_
|
15 |
176 |
3e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148379
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (51/53) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,769,676 (GRCm39) |
P73S |
probably benign |
Het |
| 4930533L02Rik |
G |
A |
7: 124,917,750 (GRCm39) |
|
noncoding transcript |
Het |
| Acot4 |
A |
T |
12: 84,090,022 (GRCm39) |
I240F |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,878,496 (GRCm39) |
V10A |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Ccnb3 |
T |
C |
X: 6,875,308 (GRCm39) |
T424A |
probably benign |
Het |
| Cd8a |
A |
T |
6: 71,350,856 (GRCm39) |
D107V |
probably benign |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Ceacam12 |
G |
A |
7: 17,805,648 (GRCm39) |
M278I |
probably benign |
Het |
| Cfap43 |
C |
T |
19: 47,736,454 (GRCm39) |
V1346I |
probably benign |
Het |
| Clic5 |
C |
T |
17: 44,552,956 (GRCm39) |
T70M |
probably damaging |
Het |
| Dbpht2 |
A |
T |
12: 74,345,934 (GRCm39) |
|
noncoding transcript |
Het |
| Ddhd1 |
G |
A |
14: 45,860,313 (GRCm39) |
R140* |
probably null |
Het |
| Evpl |
T |
G |
11: 116,123,470 (GRCm39) |
I301L |
probably benign |
Het |
| Glul |
T |
A |
1: 153,778,782 (GRCm39) |
Y30* |
probably null |
Het |
| Itgad |
A |
T |
7: 127,797,287 (GRCm39) |
H878L |
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,402,536 (GRCm39) |
I301T |
probably damaging |
Het |
| Klhl14 |
A |
T |
18: 21,687,696 (GRCm39) |
Y575* |
probably null |
Het |
| Mrps2 |
G |
T |
2: 28,358,412 (GRCm39) |
|
probably benign |
Het |
| Mymx |
GCC |
GC |
17: 45,912,519 (GRCm39) |
|
probably null |
Het |
| Napb |
G |
A |
2: 148,551,229 (GRCm39) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,171,706 (GRCm39) |
|
noncoding transcript |
Het |
| Or10g9b |
A |
C |
9: 39,917,589 (GRCm39) |
S219A |
possibly damaging |
Het |
| Or4f15 |
A |
G |
2: 111,813,981 (GRCm39) |
I146T |
probably benign |
Het |
| Piwil4 |
C |
A |
9: 14,629,612 (GRCm39) |
M438I |
probably damaging |
Het |
| Pla2r1 |
C |
T |
2: 60,258,082 (GRCm39) |
D1199N |
probably damaging |
Het |
| Pmpca |
T |
G |
2: 26,280,201 (GRCm39) |
|
probably benign |
Het |
| Prkcq |
G |
T |
2: 11,288,623 (GRCm39) |
M525I |
possibly damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,520 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,046,037 (GRCm39) |
|
probably null |
Het |
| Slc36a1 |
T |
C |
11: 55,112,849 (GRCm39) |
V148A |
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,239,473 (GRCm39) |
R96S |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,087,222 (GRCm39) |
I919N |
probably damaging |
Het |
| Tcea1 |
T |
C |
1: 4,963,659 (GRCm39) |
L233P |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,028,884 (GRCm39) |
M1T |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,641,224 (GRCm39) |
T223A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,896,719 (GRCm39) |
Y243H |
probably benign |
Het |
| Tubgcp4 |
A |
T |
2: 121,025,907 (GRCm39) |
N584I |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,216,192 (GRCm39) |
C7R |
probably damaging |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,533 (GRCm39) |
M12K |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,490,881 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
C |
G |
7: 27,625,829 (GRCm39) |
V14L |
probably damaging |
Het |
|
| Other mutations in Sco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00960:Sco1
|
APN |
11 |
66,954,864 (GRCm39) |
makesense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCGCGGTCTCCTAAACTC -3'
(R):5'- GGGACCAGGAAACAGTTCTG -3'
Sequencing Primer
(F):5'- ACTCATGGCAGCACTTGTACG -3'
(R):5'- TTGGAACTATCGCTGACCAG -3'
|
| Posted On |
2016-04-07 |
Incidental Mutation