Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01445:Coa5'

84398

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Coa5

Ensembl Gene

ENSMUSG00000026112

Gene Name

cytochrome C oxidase assembly factor 5

Synonyms

6330578E17Rik, Pet191, 1700001A24Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.723) question?

Stock #

IGL01445

Quality Score

Status

Chromosome

Chromosomal Location

37456166-37469184 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to A at 37459659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027286]

AlphaFold

Q99M07

Predicted Effect

probably benign
Transcript: ENSMUST00000027286

SMART Domains

Protein: ENSMUSP00000027286
Gene: ENSMUSG00000026112

Domain	Start	End	E-Value	Type
Pfam:Pet191_N	11	71	4.5e-24	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,923,198 (GRCm39)	I499M	probably benign	Het
Aldh1l2	A	T	10: 83,356,126 (GRCm39)		probably benign	Het
Arid3a	A	G	10: 79,786,468 (GRCm39)	D407G	probably damaging	Het
Aunip	A	G	4: 134,250,318 (GRCm39)	T88A	probably benign	Het
Blzf1	A	T	1: 164,130,189 (GRCm39)	N47K	possibly damaging	Het
Cd177	G	T	7: 24,451,496 (GRCm39)	T469N	possibly damaging	Het
Cep70	C	T	9: 99,180,553 (GRCm39)		probably benign	Het
Cntn5	T	C	9: 9,693,489 (GRCm39)		probably benign	Het
Cntnap2	C	T	6: 47,169,947 (GRCm39)	H1138Y	probably benign	Het
Coro1a	T	C	7: 126,300,701 (GRCm39)	T168A	probably benign	Het
Ecpas	T	C	4: 58,833,988 (GRCm39)	T831A	probably benign	Het
Fbxo43	A	G	15: 36,151,972 (GRCm39)	Y582H	probably damaging	Het
Lyst	T	C	13: 13,826,299 (GRCm39)	V1602A	probably benign	Het
Nbeal1	G	T	1: 60,281,784 (GRCm39)		probably null	Het
Or4d5	C	T	9: 40,012,608 (GRCm39)	M59I	probably benign	Het
Or52a33	A	G	7: 103,289,039 (GRCm39)	Y103H	probably damaging	Het
Pprc1	C	T	19: 46,053,671 (GRCm39)		probably benign	Het
Prom2	T	C	2: 127,381,433 (GRCm39)		probably benign	Het
Slc9a2	A	G	1: 40,757,970 (GRCm39)	I170V	possibly damaging	Het
Sorcs1	T	C	19: 50,141,504 (GRCm39)	Y1120C	probably damaging	Het
Tmem63a	C	T	1: 180,774,196 (GRCm39)	R18C	probably damaging	Het
Tnk1	A	T	11: 69,746,731 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Tpsg1	C	A	17: 25,591,472 (GRCm39)	S24*	probably null	Het
Vmn2r72	T	C	7: 85,398,854 (GRCm39)	M500V	probably benign	Het

Other mutations in Coa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01945:Coa5	APN	1	37,468,979 (GRCm39)	missense	probably damaging	1.00
R1469:Coa5	UTSW	1	37,459,681 (GRCm39)	nonsense	probably null
R1469:Coa5	UTSW	1	37,459,681 (GRCm39)	nonsense	probably null
R6296:Coa5	UTSW	1	37,467,428 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-11