Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01299:Cox6b1'

75206

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cox6b1

Ensembl Gene

ENSMUSG00000036751

Gene Name

cytochrome c oxidase, subunit 6B1

Synonyms

2010000G05Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01299

Quality Score

Status

Chromosome

Chromosomal Location

30316396-30325539 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30316553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 81 (T81I)

Ref Sequence

ENSEMBL: ENSMUSP00000075150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006476] [ENSMUST00000075738] [ENSMUST00000208838]

AlphaFold

P56391

Predicted Effect

probably benign
Transcript: ENSMUST00000006476

SMART Domains

Protein: ENSMUSP00000006476
Gene: ENSMUSG00000006313

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	14	257	1.8e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075738
AA Change: T81I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075150
Gene: ENSMUSG00000036751
AA Change: T81I

Domain	Start	End	E-Value	Type
Pfam:COX6B	19	83	1.9e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208352

Predicted Effect

probably benign
Transcript: ENSMUST00000208838
AA Change: T38I

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,248,743 (GRCm39)	T2830I	probably benign	Het
Akap1	C	T	11: 88,735,080 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cdk12	C	T	11: 98,101,272 (GRCm39)	R377C	unknown	Het
Creb1	T	C	1: 64,609,284 (GRCm39)		probably benign	Het
Cyp4f40	G	T	17: 32,886,948 (GRCm39)	A140S	probably benign	Het
Dus4l	A	G	12: 31,690,823 (GRCm39)	M276T	probably benign	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Fmo2	A	T	1: 162,705,599 (GRCm39)	N413K	probably benign	Het
Gabrp	T	C	11: 33,504,476 (GRCm39)	T280A	probably damaging	Het
Golph3l	A	G	3: 95,524,588 (GRCm39)	T217A	possibly damaging	Het
Mtr	T	C	13: 12,240,536 (GRCm39)		probably benign	Het
Nbea	T	G	3: 55,598,315 (GRCm39)	D2398A	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Phyh	T	A	2: 4,935,604 (GRCm39)	W193R	probably null	Het
Rab36	A	G	10: 74,884,298 (GRCm39)	Q82R	probably damaging	Het
Ranbp2	T	C	10: 58,328,639 (GRCm39)	V2846A	probably damaging	Het
Rprd2	G	A	3: 95,683,859 (GRCm39)	S374L	probably damaging	Het
Slc9a3	A	G	13: 74,308,382 (GRCm39)	R462G	probably benign	Het
Slitrk3	T	C	3: 72,956,349 (GRCm39)	N808D	probably benign	Het
Tbck	A	T	3: 132,430,638 (GRCm39)	I345F	probably damaging	Het
Tor2a	T	A	2: 32,649,558 (GRCm39)	V146D	probably damaging	Het
Trpc6	C	A	9: 8,653,062 (GRCm39)	Q623K	probably damaging	Het
Ube2q1	A	G	3: 89,688,681 (GRCm39)	S192G	probably damaging	Het
Vnn1	T	A	10: 23,770,949 (GRCm39)	L59Q	probably damaging	Het

Other mutations in Cox6b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01646:Cox6b1	APN	7	30,323,929 (GRCm39)	nonsense	probably null
R7108:Cox6b1	UTSW	7	30,322,929 (GRCm39)	missense	possibly damaging	0.88

Posted On

2013-10-07