Mutagenetix > Incidental Mutation

Incidental Mutation 'R3811:Sco2'

275208

Institutional Source

Beutler Lab

Gene Symbol

Sco2

Ensembl Gene

ENSMUSG00000091780

Gene Name

SCO2 cytochrome c oxidase assembly protein

Synonyms

MMRRC Submission

040767-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3811 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89255840-89258049 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 89257882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023285] [ENSMUST00000036987] [ENSMUST00000049968] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000167643] [ENSMUST00000227834] [ENSMUST00000145259] [ENSMUST00000228977] [ENSMUST00000228111]

AlphaFold

Q8VCL2

Predicted Effect

probably benign
Transcript: ENSMUST00000023285

SMART Domains

Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Glycos_trans_3N	23	85	1.5e-20	PFAM
Pfam:Glycos_transf_3	95	326	3.1e-50	PFAM
PYNP_C	374	448	6.46e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036987

SMART Domains

Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690

Domain	Start	End	E-Value	Type
Pfam:DUF1032	20	576	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049968

SMART Domains

Protein: ENSMUSP00000053112
Gene: ENSMUSG00000047394

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	24	60	1.4e-4	PFAM
Pfam:SHIPPO-rpt	101	129	1.6e-3	PFAM
Pfam:SHIPPO-rpt	138	172	2.7e-6	PFAM
Pfam:SHIPPO-rpt	181	211	2.5e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074552

SMART Domains

Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690

Domain	Start	End	E-Value	Type
Pfam:DUF1032	51	607	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088717

SMART Domains

Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690

Domain	Start	End	E-Value	Type
Pfam:CNDH2_N	11	123	1.2e-48	PFAM
Pfam:CNDH2_M	147	285	2.1e-20	PFAM
Pfam:CNDH2_C	308	598	1.9e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136638

Predicted Effect

probably benign
Transcript: ENSMUST00000167643

SMART Domains

Protein: ENSMUSP00000131943
Gene: ENSMUSG00000091780

Domain	Start	End	E-Value	Type
Pfam:SCO1-SenC	52	234	1.4e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151523

Predicted Effect

probably benign
Transcript: ENSMUST00000227834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227203

Predicted Effect

probably benign
Transcript: ENSMUST00000145259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228005

Predicted Effect

probably benign
Transcript: ENSMUST00000228977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226267

Predicted Effect

probably benign
Transcript: ENSMUST00000228111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227854

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (36/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele and a knock-in allele exhibit muscle weakness and reduced exercise endurance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	G	T	6: 34,776,664 (GRCm39)	S385I	probably damaging	Het
Arhgap28	G	A	17: 68,203,088 (GRCm39)	P122S	probably benign	Het
Arid2	T	C	15: 96,186,967 (GRCm39)	V73A	probably benign	Het
Atp1b1	C	T	1: 164,270,874 (GRCm39)	R35H	probably benign	Het
Cacybp	T	C	1: 160,031,222 (GRCm39)	D202G	probably benign	Het
Chsy3	C	G	18: 59,309,242 (GRCm39)	P165R	probably benign	Het
Creb3	C	T	4: 43,565,501 (GRCm39)	Q227*	probably null	Het
Crnkl1	C	A	2: 145,773,226 (GRCm39)	R140L	probably damaging	Het
Cyth4	A	G	15: 78,488,849 (GRCm39)	E39G	probably damaging	Het
Dnah6	T	C	6: 73,168,481 (GRCm39)	T481A	probably benign	Het
Dock4	T	A	12: 40,829,123 (GRCm39)	I1003N	possibly damaging	Het
Galntl5	T	C	5: 25,391,178 (GRCm39)	F26L	probably benign	Het
Glrx5	C	G	12: 104,999,147 (GRCm39)	C63W	probably damaging	Het
Gm9602	T	A	14: 15,932,645 (GRCm39)	I28N	probably damaging	Het
Hivep2	A	G	10: 14,006,101 (GRCm39)	T900A	probably benign	Het
Hmcn1	A	G	1: 150,525,328 (GRCm39)		probably null	Het
Ighv1-24	G	T	12: 114,736,685 (GRCm39)	L72I	probably benign	Het
Ilvbl	G	A	10: 78,414,869 (GRCm39)	C244Y	probably benign	Het
Kat7	A	G	11: 95,182,441 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lamc1	A	T	1: 153,138,454 (GRCm39)		probably null	Het
Mall	T	A	2: 127,550,774 (GRCm39)	I129F	probably damaging	Het
Mdn1	A	T	4: 32,693,506 (GRCm39)	K1044*	probably null	Het
Med23	A	T	10: 24,768,490 (GRCm39)	R77*	probably null	Het
Med23	G	A	10: 24,768,491 (GRCm39)		probably null	Het
Metap2	A	T	10: 93,706,026 (GRCm39)	L252*	probably null	Het
Or8k28	A	T	2: 86,285,691 (GRCm39)	V308E	probably benign	Het
Psmd1	T	A	1: 86,060,437 (GRCm39)	V828D	probably damaging	Het
Psmd9	C	T	5: 123,372,653 (GRCm39)		probably benign	Het
Rbbp5	T	C	1: 132,420,325 (GRCm39)	V59A	probably damaging	Het
Slc32a1	G	T	2: 158,456,656 (GRCm39)	C437F	possibly damaging	Het
Spem2	T	C	11: 69,707,990 (GRCm39)	E325G	possibly damaging	Het
Steap4	A	G	5: 8,027,017 (GRCm39)	T327A	probably benign	Het
Tsc2	T	C	17: 24,848,011 (GRCm39)	D70G	probably benign	Het
Txndc5	T	C	13: 38,707,381 (GRCm39)	K99E	probably benign	Het

Other mutations in Sco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01148:Sco2	APN	15	89,255,924 (GRCm39)	missense	probably benign	0.02
R2020:Sco2	UTSW	15	89,256,063 (GRCm39)	missense	probably damaging	1.00
R3812:Sco2	UTSW	15	89,257,882 (GRCm39)	utr 5 prime	probably benign
R5686:Sco2	UTSW	15	89,256,175 (GRCm39)	nonsense	probably null
R5815:Sco2	UTSW	15	89,256,574 (GRCm39)	missense	probably benign
R7421:Sco2	UTSW	15	89,255,923 (GRCm39)	missense	possibly damaging	0.94
R9156:Sco2	UTSW	15	89,256,363 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGACTTAGGGCTGTGCGATG -3'
(R):5'- TCCAGTAGGTTCTCAGTGTCCAC -3'

Sequencing Primer
(F):5'- ACCTTGAAGGGTGCTCGATC -3'
(R):5'- CCCTCTCCCTTAGGCATTGTTGAG -3'

Posted On

2015-04-02