Mutagenetix > Incidental Mutation

Incidental Mutation 'R7798:Sco1'

600379

Institutional Source

Beutler Lab

Gene Symbol

Sco1

Ensembl Gene

ENSMUSG00000069844

Gene Name

SCO1 cytochrome c oxidase assembly protein

Synonyms

2610001C07Rik, D11Bwg1310e

MMRRC Submission

045648-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7798 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66943496-66957896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66944628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 84 (T84A)

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: T84A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090673
Gene: ENSMUSG00000069844
AA Change: T84A

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: T84A

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104330
Gene: ENSMUSG00000069844
AA Change: T84A

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,932 (GRCm39)	N128I	probably damaging	Het
Abca13	A	G	11: 9,241,664 (GRCm39)	T1176A	probably benign	Het
Abca9	A	G	11: 110,029,005 (GRCm39)	V851A	probably benign	Het
Abcc6	C	A	7: 45,626,277 (GRCm39)	E1494*	probably null	Het
Adamts14	A	T	10: 61,106,952 (GRCm39)	V56E	probably damaging	Het
Adamts15	G	A	9: 30,815,939 (GRCm39)	T639M	probably damaging	Het
Albfm1	T	C	5: 90,745,370 (GRCm39)	S608P	possibly damaging	Het
Arhgap11a	A	C	2: 113,673,680 (GRCm39)	V70G	probably damaging	Het
BC051665	A	T	13: 60,932,249 (GRCm39)	D113E	probably benign	Het
Best1	T	C	19: 9,969,035 (GRCm39)	Y227C	probably damaging	Het
Camk2b	A	G	11: 5,928,399 (GRCm39)	S447P	probably benign	Het
Ccdc88a	C	A	11: 29,427,348 (GRCm39)	Q1018K	probably benign	Het
Cdhr17	T	C	5: 17,061,656 (GRCm39)	F801L	possibly damaging	Het
Cfap74	T	A	4: 155,507,079 (GRCm39)	V180D		Het
Clca3a1	T	A	3: 144,463,723 (GRCm39)	T185S	probably damaging	Het
Clca3b	T	C	3: 144,533,891 (GRCm39)	S495G	probably damaging	Het
Cyb5r2	A	T	7: 107,353,155 (GRCm39)	Y96N	possibly damaging	Het
Cyp21a1	T	C	17: 35,023,295 (GRCm39)	K27E	probably benign	Het
Cyp2ab1	T	C	16: 20,131,166 (GRCm39)	E321G	probably benign	Het
Des	T	C	1: 75,339,003 (GRCm39)	I228T	probably damaging	Het
Dis3l	G	T	9: 64,248,299 (GRCm39)	P39T	probably benign	Het
Disp2	A	C	2: 118,622,360 (GRCm39)	I1031L	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,786,757 (GRCm39)		probably null	Het
Fgf23	A	T	6: 127,050,177 (GRCm39)	D62V	probably damaging	Het
Galnt15	C	T	14: 31,751,862 (GRCm39)	T138I	possibly damaging	Het
Ggt6	A	T	11: 72,326,367 (GRCm39)		probably benign	Het
Gpr180	T	A	14: 118,391,098 (GRCm39)	V209D	probably damaging	Het
Gzma	A	T	13: 113,232,858 (GRCm39)	F78Y	probably benign	Het
Igkv8-30	A	T	6: 70,094,355 (GRCm39)	C19S	probably benign	Het
Il1r1	G	A	1: 40,349,526 (GRCm39)	V361I	probably benign	Het
Intu	T	C	3: 40,646,359 (GRCm39)	V598A	probably damaging	Het
Itpr2	A	G	6: 146,287,513 (GRCm39)	F471L	probably benign	Het
Kntc1	T	A	5: 123,924,357 (GRCm39)	V1081E	probably benign	Het
Kntc1	T	A	5: 123,957,180 (GRCm39)	V2163E	possibly damaging	Het
Macf1	T	C	4: 123,271,893 (GRCm39)	K6552E	probably damaging	Het
Marf1	T	C	16: 13,956,315 (GRCm39)	H842R	probably benign	Het
Mgat4b	A	G	11: 50,116,497 (GRCm39)	T10A	possibly damaging	Het
Muc21	C	G	17: 35,932,146 (GRCm39)	G680A	unknown	Het
Muc5ac	T	C	7: 141,347,778 (GRCm39)		probably null	Het
Nrk	CGCAGCAGCAGCAGCAGCAGC	CGCAGCAGCAGCAGCAGC	X: 137,883,426 (GRCm39)		probably benign	Het
Nsun4	T	G	4: 115,908,371 (GRCm39)	S730R	possibly damaging	Het
Or12e1	A	T	2: 87,022,636 (GRCm39)	I202L	probably benign	Het
Or12k7	A	T	2: 36,959,186 (GRCm39)	S290C	probably damaging	Het
Or1n1	T	C	2: 36,750,348 (GRCm39)	E4G	probably benign	Het
Or4f6	A	G	2: 111,838,617 (GRCm39)	F305L	probably benign	Het
Or4k15	A	T	14: 50,364,895 (GRCm39)	Y287F	probably damaging	Het
Padi3	C	T	4: 140,513,750 (GRCm39)	E653K	probably benign	Het
Pde4a	A	G	9: 21,109,959 (GRCm39)	E280G	possibly damaging	Het
Phactr3	G	A	2: 177,925,703 (GRCm39)	R326H	probably benign	Het
Prob1	G	A	18: 35,786,397 (GRCm39)	P619L	possibly damaging	Het
Ptk2	G	A	15: 73,167,224 (GRCm39)	R368W	probably damaging	Het
Rgs6	A	G	12: 83,116,293 (GRCm39)	T240A	probably benign	Het
Rpa1	A	T	11: 75,203,635 (GRCm39)	Y356N	probably damaging	Het
Rxrb	T	A	17: 34,252,579 (GRCm39)	D165E	probably damaging	Het
Sepsecs	T	C	5: 52,804,531 (GRCm39)	I380V	probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slco3a1	A	G	7: 73,968,344 (GRCm39)	S459P	probably benign	Het
Smg1	A	T	7: 117,771,162 (GRCm39)	S1503R	possibly damaging	Het
Sox2	G	A	3: 34,704,791 (GRCm39)	R76H	probably damaging	Het
Spty2d1	G	A	7: 46,645,804 (GRCm39)	S613F	probably damaging	Het
Stab2	A	T	10: 86,793,776 (GRCm39)	Y440N	probably damaging	Het
Syn3	A	G	10: 85,916,117 (GRCm39)	Y290H	probably damaging	Het
Tex15	C	T	8: 34,071,875 (GRCm39)	S2474F	possibly damaging	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmcc1	A	T	6: 116,020,539 (GRCm39)	S304R		Het
Tmem130	T	G	5: 144,680,580 (GRCm39)	K275Q	probably damaging	Het
Tmem9	C	A	1: 135,961,927 (GRCm39)	T174K	probably damaging	Het
Ttyh3	C	T	5: 140,620,538 (GRCm39)	R233Q	probably damaging	Het
Tut7	A	T	13: 59,963,389 (GRCm39)	M323K	possibly damaging	Het
Twnk	T	C	19: 44,996,107 (GRCm39)	M180T	probably benign	Het
Ube4a	A	G	9: 44,844,629 (GRCm39)	V874A	probably damaging	Het
Ugt2a3	T	C	5: 87,475,582 (GRCm39)	N350S	probably damaging	Het
Vegfa	C	T	17: 46,342,761 (GRCm39)	G19D	probably damaging	Het
Vmn2r2	C	A	3: 64,041,518 (GRCm39)	C399F	possibly damaging	Het
Vmn2r65	G	T	7: 84,595,530 (GRCm39)	P385T	probably benign	Het
Vmn2r65	A	G	7: 84,596,192 (GRCm39)	F164S	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
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
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'- AGTAGATTATAGCCATTACTTATCCCC -3'
(R):5'- TGCCCTCTGACCTGGAAAAC -3'

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

Posted On

2019-11-26