Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01144:Cox19'

51193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cox19

Ensembl Gene

ENSMUSG00000045438

Gene Name

cytochrome c oxidase assembly protein 19

Synonyms

1810074D02Rik, 2810437L13Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01144

Quality Score

Status

Chromosome

Chromosomal Location

139323577-139330921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139330881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 10 (K10E)

Ref Sequence

ENSEMBL: ENSMUSP00000062046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049630] [ENSMUST00000198966]

AlphaFold

Q8K0C8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049630
AA Change: K10E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000133951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197520

Predicted Effect

probably benign
Transcript: ENSMUST00000198966

SMART Domains

Protein: ENSMUSP00000143206
Gene: ENSMUSG00000045438

Domain	Start	End	E-Value	Type
Pfam:CHCH	7	41	1.8e-6	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ddx21	T	A	10: 62,434,329 (GRCm39)	K143N	unknown	Het
Dnajb13	T	C	7: 100,152,431 (GRCm39)	D295G	possibly damaging	Het
Gm14496	A	G	2: 181,636,814 (GRCm39)	N91D	probably damaging	Het
Kidins220	T	C	12: 25,060,925 (GRCm39)	I801T	probably damaging	Het
Nexmif	A	G	X: 103,127,559 (GRCm39)	S1453P	possibly damaging	Het
Nobox	A	G	6: 43,280,935 (GRCm39)	V513A	possibly damaging	Het
Phactr1	G	A	13: 43,191,000 (GRCm39)	D157N	possibly damaging	Het
Plod1	G	T	4: 148,017,211 (GRCm39)	Q49K	probably benign	Het
Ppp1r10	C	T	17: 36,237,456 (GRCm39)	R209C	probably benign	Het
Prr12	T	C	7: 44,696,882 (GRCm39)	E1011G	unknown	Het
Rab27a	G	A	9: 72,982,850 (GRCm39)		probably null	Het
Rbbp6	T	A	7: 122,575,169 (GRCm39)	D59E	possibly damaging	Het
Sbf2	G	T	7: 109,929,110 (GRCm39)	T1432K	probably damaging	Het
Sorbs3	A	C	14: 70,429,017 (GRCm39)	S383A	probably benign	Het
Spta1	T	A	1: 174,014,829 (GRCm39)	D436E	probably benign	Het
Tbc1d4	A	T	14: 101,682,099 (GRCm39)	Y1266N	probably damaging	Het
Ttn	A	T	2: 76,551,173 (GRCm39)	Y29660*	probably null	Het
Ubr2	A	G	17: 47,268,247 (GRCm39)	I989T	probably damaging	Het
Zkscan14	G	T	5: 145,132,806 (GRCm39)	R242S	probably benign	Het

Other mutations in Cox19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7327:Cox19	UTSW	5	139,328,402 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21