Mutagenetix > Incidental Mutation

Incidental Mutation 'R3812:Sco2'

274115

Institutional Source

Beutler Lab

Gene Symbol

Sco2

Ensembl Gene

ENSMUSG00000091780

Gene Name

SCO2 cytochrome c oxidase assembly protein

Synonyms

MMRRC Submission

040768-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3812 (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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (28/28)

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,186,967 (GRCm39)	V73A	probably benign	Het
Bpifb2	T	A	2: 153,733,871 (GRCm39)	D404E	probably benign	Het
Ccdc150	A	G	1: 54,407,469 (GRCm39)	M1082V	probably benign	Het
Cyp4a31	T	C	4: 115,423,706 (GRCm39)	S137P	probably benign	Het
Cyp4f15	A	G	17: 32,905,151 (GRCm39)	I45V	probably benign	Het
Fbxw28	C	A	9: 109,167,598 (GRCm39)	C53F	possibly damaging	Het
Galntl5	T	C	5: 25,391,178 (GRCm39)	F26L	probably benign	Het
Gm9637	A	T	14: 19,402,398 (GRCm38)		noncoding transcript	Het
Lcmt2	G	A	2: 120,969,187 (GRCm39)	A632V	probably benign	Het
Metap2	A	T	10: 93,706,026 (GRCm39)	L252*	probably null	Het
Myo1a	A	G	10: 127,543,284 (GRCm39)	N180S	possibly damaging	Het
Nlrp4a	T	C	7: 26,149,118 (GRCm39)	W242R	probably benign	Het
Or4c12b	T	A	2: 89,647,395 (GRCm39)	S242T	probably damaging	Het
Or5w18	C	T	2: 87,633,396 (GRCm39)	S221F	possibly damaging	Het
Or5w19	T	A	2: 87,698,745 (GRCm39)	S137T	probably damaging	Het
Otogl	A	G	10: 107,735,332 (GRCm39)	Y151H	probably damaging	Het
Pkd1	T	C	17: 24,784,615 (GRCm39)	V387A	probably benign	Het
Polm	A	G	11: 5,779,512 (GRCm39)	F429L	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sorbs2	A	G	8: 46,216,067 (GRCm39)	T105A	probably benign	Het
Syt10	A	T	15: 89,675,000 (GRCm39)	C449S	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Txndc5	T	C	13: 38,707,381 (GRCm39)	K99E	probably benign	Het
Usp34	T	A	11: 23,414,517 (GRCm39)	F2820Y	possibly damaging	Het
Vmn1r170	T	C	7: 23,305,717 (GRCm39)	S40P	probably damaging	Het
Zfp292	A	T	4: 34,810,326 (GRCm39)	L906Q	probably damaging	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
R3811: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'- CTCGATCTGATAGCACGAGC -3'
(R):5'- CGGATATCAACGGCACCAGATC -3'

Sequencing Primer
(F):5'- GAGCGCCCCCTGGAGAG -3'
(R):5'- TTCCTGGTCCTGGCACGTG -3'

Posted On

2015-04-02