Mutagenetix > Incidental Mutation

Incidental Mutation 'R4299:Sco1'

323503

Institutional Source

Beutler Lab

Gene Symbol

Sco1

Ensembl Gene

ENSMUSG00000069844

Gene Name

SCO1 cytochrome c oxidase assembly protein

Synonyms

2610001C07Rik, D11Bwg1310e

MMRRC Submission

041087-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66943496-66957896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66946626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 133 (H133L)

Ref Sequence

ENSEMBL: ENSMUSP00000104330 (fasta)

Gene Model

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

AlphaFold

Q5SUC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092996
AA Change: H128L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090673
Gene: ENSMUSG00000069844
AA Change: H128L

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

possibly damaging
Transcript: ENSMUST00000108690
AA Change: H133L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104330
Gene: ENSMUSG00000069844
AA Change: H133L

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

0.7209

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (76/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,258,154 (GRCm39)		probably null	Het
Akna	A	T	4: 63,316,269 (GRCm39)	D31E	possibly damaging	Het
Apbb2	A	T	5: 66,470,721 (GRCm39)	H528Q	probably damaging	Het
Atp6v1g3	C	A	1: 138,211,462 (GRCm39)	Y47*	probably null	Het
AW551984	T	C	9: 39,504,275 (GRCm39)	T564A	probably benign	Het
C4b	T	C	17: 34,950,118 (GRCm39)	D1384G	possibly damaging	Het
Cbfa2t2	G	A	2: 154,365,848 (GRCm39)	V353I	probably damaging	Het
Ccdc121	A	G	5: 31,644,870 (GRCm39)	R208G	possibly damaging	Het
Cdh20	T	C	1: 109,988,731 (GRCm39)	I211T	probably damaging	Het
Cep170b	T	C	12: 112,705,739 (GRCm39)	S1166P	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	G	A	16: 22,624,161 (GRCm39)	Q149*	probably null	Het
Cyp2c70	T	C	19: 40,172,372 (GRCm39)	Q90R	probably benign	Het
Cyp3a41b	T	C	5: 145,510,487 (GRCm39)	Y129C	possibly damaging	Het
Dnah10	A	G	5: 124,896,989 (GRCm39)	T3645A	probably damaging	Het
Dnai3	C	T	3: 145,774,561 (GRCm39)	D429N	probably damaging	Het
Dolk	A	T	2: 30,175,200 (GRCm39)	W282R	probably damaging	Het
Dsg2	T	A	18: 20,729,008 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,045,059 (GRCm39)	T297A	possibly damaging	Het
Flt1	G	T	5: 147,620,717 (GRCm39)	D142E	probably benign	Het
Frmd4a	C	A	2: 4,337,882 (GRCm39)	N29K	probably benign	Het
Fxyd7	A	T	7: 30,744,407 (GRCm39)	M36K	probably benign	Het
Gabbr1	C	T	17: 37,366,792 (GRCm39)	R178*	probably null	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Il1rapl1	A	T	X: 86,344,313 (GRCm39)	I194N	probably damaging	Het
Kics2	C	A	10: 121,581,351 (GRCm39)	H117Q	probably benign	Het
Klhl24	T	C	16: 19,925,754 (GRCm39)	M94T	probably damaging	Het
Kmt2e	T	A	5: 23,669,912 (GRCm39)	I133N	probably damaging	Het
Macf1	A	G	4: 123,293,199 (GRCm39)	I5381T	probably damaging	Het
Madd	A	G	2: 91,000,148 (GRCm39)	L197P	probably damaging	Het
Mapkapk3	G	A	9: 107,134,648 (GRCm39)	T296M	probably damaging	Het
Micall2	T	C	5: 139,695,226 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,654,164 (GRCm39)	T1214A	probably benign	Het
Ncapd3	A	G	9: 26,963,623 (GRCm39)	N492S	probably benign	Het
Neurl4	A	C	11: 69,799,887 (GRCm39)	D1055A	probably damaging	Het
Nrbp1	T	C	5: 31,407,943 (GRCm39)		probably null	Het
Or13a20	T	C	7: 140,232,156 (GRCm39)	V88A	probably benign	Het
Or1e21	A	T	11: 73,344,827 (GRCm39)	D70E	probably damaging	Het
Or52z1	T	A	7: 103,437,202 (GRCm39)	H94L	probably benign	Het
Or5j3	A	T	2: 86,128,585 (GRCm39)	I142F	possibly damaging	Het
Or6k8-ps1	T	A	1: 173,979,878 (GRCm39)	Y265*	probably null	Het
Or8b42	T	G	9: 38,342,108 (GRCm39)	Y177D	probably damaging	Het
Or8d1b	T	A	9: 38,887,055 (GRCm39)	F28I	probably damaging	Het
Or8g19	T	C	9: 39,056,295 (GRCm39)	S300P	probably benign	Het
Patj	C	A	4: 98,565,558 (GRCm39)	N1090K	possibly damaging	Het
Pde8a	A	G	7: 80,977,783 (GRCm39)	D692G	probably benign	Het
Ppa2	G	T	3: 133,073,603 (GRCm39)	K220N	probably damaging	Het
Pramel32	T	C	4: 88,546,419 (GRCm39)	K137E	probably damaging	Het
Ptgr3	A	T	18: 84,112,626 (GRCm39)	I101F	possibly damaging	Het
Rad54b	A	G	4: 11,597,865 (GRCm39)	H250R	probably damaging	Het
Reln	A	C	5: 22,125,485 (GRCm39)	C2733G	probably damaging	Het
Rgs14	A	G	13: 55,531,566 (GRCm39)	T497A	probably damaging	Het
Rpl13-ps3	T	A	14: 59,130,972 (GRCm39)		noncoding transcript	Het
Scn11a	T	G	9: 119,594,572 (GRCm39)	I1274L	probably damaging	Het
Slc4a8	T	C	15: 100,694,521 (GRCm39)		probably null	Het
Smc2	C	T	4: 52,440,238 (GRCm39)		probably benign	Het
Spata18	T	C	5: 73,824,245 (GRCm39)	I156T	probably benign	Het
St3gal2	T	C	8: 111,688,991 (GRCm39)	M177T	probably benign	Het
Stt3a	A	G	9: 36,674,640 (GRCm39)	F48L	probably damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,222,603 (GRCm39)		probably benign	Het
Telo2	A	T	17: 25,334,230 (GRCm39)	S6T	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,115,491 (GRCm39)	M369V	probably benign	Het
Tnfrsf13b	C	G	11: 61,031,643 (GRCm39)		probably null	Het
Vmn1r234	A	T	17: 21,449,283 (GRCm39)	M66L	probably benign	Het
Vmn2r12	C	A	5: 109,239,830 (GRCm39)	M244I	probably benign	Het
Wdfy2	T	A	14: 63,162,589 (GRCm39)	L97*	probably null	Het
Xrcc5	T	C	1: 72,433,879 (GRCm39)	*733Q	probably null	Het
Zfp1004	G	A	2: 150,032,653 (GRCm39)	D17N	probably damaging	Het
Zfp516	G	A	18: 83,005,622 (GRCm39)	G842D	possibly damaging	Het
Zwilch	A	G	9: 64,062,444 (GRCm39)		probably null	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
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'- TTGCATGTGTGATAGCATTCAG -3'
(R):5'- CAGGACTAGTAAATCAGCAGTGC -3'

Sequencing Primer
(F):5'- GCATGTGTGATAGCATTCAGTTTTC -3'
(R):5'- CTAGTAAATCAGCAGTGCAGATC -3'

Posted On

2015-06-20