Mutagenetix > Incidental Mutation

Incidental Mutation 'R3833:Sco1'

275495

Institutional Source

Beutler Lab

Gene Symbol

Sco1

Ensembl Gene

ENSMUSG00000069844

Gene Name

SCO1 cytochrome c oxidase assembly protein

Synonyms

2610001C07Rik, D11Bwg1310e

MMRRC Submission

040888-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66943496-66957896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66944605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 76 (V76A)

Ref Sequence

ENSEMBL: ENSMUSP00000104330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092996] [ENSMUST00000108690] [ENSMUST00000116363] [ENSMUST00000146338]

AlphaFold

Q5SUC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000092996
AA Change: V76A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090673
Gene: ENSMUSG00000069844
AA Change: V76A

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 damaging
Transcript: ENSMUST00000108690
AA Change: V76A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104330
Gene: ENSMUSG00000069844
AA Change: V76A

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

noncoding transcript
Transcript: ENSMUST00000137779

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

0.1865

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.4%

Validation Efficiency

97% (70/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	A	9: 101,820,062 (GRCm39)	G161S	probably damaging	Het
Acp7	T	C	7: 28,314,519 (GRCm39)	D282G	probably benign	Het
Atp10d	T	A	5: 72,396,568 (GRCm39)	C258S	possibly damaging	Het
Atp6ap1	T	C	X: 73,340,813 (GRCm39)	I10T	possibly damaging	Het
Atp6v0d2	T	G	4: 19,922,395 (GRCm39)	N35H	probably damaging	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Ccn6	T	C	10: 39,030,945 (GRCm39)	K193E	probably benign	Het
Ccr1	T	C	9: 123,764,324 (GRCm39)	T69A	possibly damaging	Het
Cenpe	T	G	3: 134,928,083 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,178,946 (GRCm39)	G53R	probably damaging	Het
Cstb	T	C	10: 78,263,184 (GRCm39)	F70L	probably benign	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Cyp8b1	C	A	9: 121,745,109 (GRCm39)	Q74H	probably benign	Het
Dennd2a	G	A	6: 39,483,651 (GRCm39)	P403L	probably damaging	Het
Dennd2a	G	T	6: 39,483,657 (GRCm39)	S401Y	probably damaging	Het
Dnaaf5	T	C	5: 139,167,320 (GRCm39)	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Gcn1	A	T	5: 115,730,191 (GRCm39)	Q835L	probably benign	Het
Gtf2b	T	A	3: 142,477,153 (GRCm39)	D8E	probably benign	Het
Hao1	A	T	2: 134,364,925 (GRCm39)	V234D	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Herc4	A	G	10: 63,081,739 (GRCm39)	I21V	probably benign	Het
Htt	T	A	5: 34,979,062 (GRCm39)	V815D	probably benign	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Igsf8	G	T	1: 172,145,837 (GRCm39)	A315S	probably benign	Het
Il1a	T	C	2: 129,148,599 (GRCm39)	D37G	possibly damaging	Het
Iqcb1	T	A	16: 36,652,276 (GRCm39)	C62*	probably null	Het
Itgad	A	T	7: 127,785,405 (GRCm39)	T381S	probably damaging	Het
Itpkb	T	C	1: 180,161,260 (GRCm39)	V462A	probably benign	Het
Kalrn	T	A	16: 33,860,259 (GRCm39)	R199*	probably null	Het
Kif24	G	T	4: 41,395,064 (GRCm39)	A603D	probably damaging	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klrc3	A	G	6: 129,620,181 (GRCm39)	L24P	probably damaging	Het
Lmnb1	A	C	18: 56,861,598 (GRCm39)	D163A	probably benign	Het
Lrrc9	T	C	12: 72,529,765 (GRCm39)	L912P	probably damaging	Het
Mageh1	A	T	X: 151,820,004 (GRCm39)	W111R	probably damaging	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Mapt	A	T	11: 104,177,961 (GRCm39)	Q38L	possibly damaging	Het
Med12	C	A	X: 100,339,498 (GRCm39)	P2037Q	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Mep1b	C	T	18: 21,219,296 (GRCm39)	T150I	possibly damaging	Het
Mroh1	C	T	15: 76,285,819 (GRCm39)	T71I	probably benign	Het
Nap1l3	A	G	X: 121,305,995 (GRCm39)	V241A	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pgap1	A	G	1: 54,596,624 (GRCm39)	M39T	probably damaging	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Ppp1r12c	T	A	7: 4,485,785 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rhbdf2	T	A	11: 116,495,250 (GRCm39)	D251V	probably damaging	Het
Rsad1	A	G	11: 94,434,130 (GRCm39)	V366A	probably benign	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Scn7a	A	G	2: 66,528,028 (GRCm39)	S821P	probably damaging	Het
Sdsl	C	A	5: 120,601,183 (GRCm39)	A30S	probably benign	Het
Slc26a6	C	T	9: 108,733,117 (GRCm39)	T32I	possibly damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,718,221 (GRCm39)	T201A	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Thsd1	T	G	8: 22,733,132 (GRCm39)	S60A	possibly damaging	Het
Tmem121b	C	T	6: 120,469,841 (GRCm39)	G292E	probably damaging	Het
Trim63	A	G	4: 134,048,507 (GRCm39)	N172S	probably benign	Het
Usp24	T	C	4: 106,219,209 (GRCm39)		probably null	Het
Zdhhc16	T	A	19: 41,926,553 (GRCm39)		probably null	Het
Zfp1010	T	C	2: 176,956,998 (GRCm39)	S167G	possibly damaging	Het
Zfp709	G	A	8: 72,642,906 (GRCm39)	V112M	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GCTTTTGCAGTAGATTATAGCCATTAC -3'
(R):5'- TTCTTCAGGCCCACACAGAC -3'

Sequencing Primer
(F):5'- GCCATTACTTATCCCCAAATAACCTG -3'
(R):5'- GGGGTAACCACTTACTTTCT -3'

Posted On

2015-04-06