Mutagenetix > Incidental Mutation

Incidental Mutation 'R0865:Cox6a2'

82303

Institutional Source

Beutler Lab

Gene Symbol

Cox6a2

Ensembl Gene

ENSMUSG00000030785

Gene Name

cytochrome c oxidase subunit 6A2

Synonyms

VIaH, subunit VIaH (heart-type), COXVIaH

MMRRC Submission

039039-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.500) question?

Stock #

R0865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127804607-127805538 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 127804995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033049] [ENSMUST00000033051] [ENSMUST00000106237] [ENSMUST00000176249] [ENSMUST00000177111] [ENSMUST00000177383]

AlphaFold

P43023

Predicted Effect

probably benign
Transcript: ENSMUST00000033049

SMART Domains

Protein: ENSMUSP00000033049
Gene: ENSMUSG00000030785

Domain	Start	End	E-Value	Type
Pfam:COX6A	10	90	4.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033051

SMART Domains

Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Int_alpha	38	88	1.35e1	SMART
VWA	155	376	1.24e-36	SMART
Blast:VWA	405	436	1e-9	BLAST
Int_alpha	443	492	3.67e-3	SMART
Int_alpha	496	553	1.03e-6	SMART
Int_alpha	559	615	1.73e-13	SMART
Int_alpha	622	676	1.69e-2	SMART
transmembrane domain	1142	1164	N/A	INTRINSIC
Pfam:Integrin_alpha	1165	1179	1.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106237

SMART Domains

Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369

Domain	Start	End	E-Value	Type
Int_alpha	40	90	1.35e1	SMART
VWA	157	342	1.31e-44	SMART
Blast:VWA	371	402	9e-10	BLAST
Int_alpha	409	458	3.67e-3	SMART
Int_alpha	462	519	1.03e-6	SMART
Int_alpha	525	581	1.73e-13	SMART
Int_alpha	588	642	1.69e-2	SMART
transmembrane domain	1108	1130	N/A	INTRINSIC
Pfam:Integrin_alpha	1131	1145	4.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176249

SMART Domains

Protein: ENSMUSP00000135309
Gene: ENSMUSG00000070369

Domain	Start	End	E-Value	Type
PDB:3K72\|C	1	37	5e-11	PDB
transmembrane domain	40	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177111

SMART Domains

Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Int_alpha	38	88	1.35e1	SMART
VWA	155	340	1.31e-44	SMART
Blast:VWA	369	400	9e-10	BLAST
Int_alpha	407	456	3.67e-3	SMART
Int_alpha	460	517	1.03e-6	SMART
Int_alpha	523	579	1.73e-13	SMART
Int_alpha	586	640	1.69e-2	SMART
transmembrane domain	1106	1128	N/A	INTRINSIC
Pfam:Integrin_alpha	1129	1143	5.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177383

SMART Domains

Protein: ENSMUSP00000135104
Gene: ENSMUSG00000070369

Domain	Start	End	E-Value	Type
PDB:3K72\|C	2	34	1e-9	PDB
transmembrane domain	47	69	N/A	INTRINSIC
Pfam:Integrin_alpha	70	84	2.9e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205646

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.5%
20x: 95.2%

Validation Efficiency

98% (53/54)

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 polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation exhibit cardiac dysfunction as a result of abnormal ventricular filling or diastolic dysfunction under maximal cardiac load. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,479,843 (GRCm39)	E581G	probably damaging	Het
Adcy5	A	G	16: 35,094,841 (GRCm39)	N666S	probably damaging	Het
Apcs	T	C	1: 172,721,782 (GRCm39)	D188G	probably benign	Het
Arih2	A	G	9: 108,526,499 (GRCm39)		probably benign	Het
AU040320	A	G	4: 126,742,677 (GRCm39)	K981E	possibly damaging	Het
Brwd1	A	T	16: 95,869,784 (GRCm39)	I81K	probably damaging	Het
Cacng8	T	A	7: 3,460,625 (GRCm39)	I136N	possibly damaging	Het
Cdh22	A	T	2: 165,022,976 (GRCm39)	W32R	probably damaging	Het
Cel	A	G	2: 28,450,627 (GRCm39)	S133P	probably damaging	Het
Clasp2	A	G	9: 113,740,568 (GRCm39)	T495A	possibly damaging	Het
Clock	A	T	5: 76,414,271 (GRCm39)		probably benign	Het
Cyp2b19	C	A	7: 26,461,654 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 118,154,579 (GRCm39)	Q234*	probably null	Het
Gga3	A	T	11: 115,483,285 (GRCm39)	N91K	probably damaging	Het
Idh1	T	C	1: 65,200,315 (GRCm39)	T350A	probably benign	Het
Ints11	A	G	4: 155,971,564 (GRCm39)		probably null	Het
Itgb1	A	G	8: 129,436,732 (GRCm39)		probably null	Het
Kank4	A	T	4: 98,662,900 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,315,194 (GRCm39)	D281E	probably benign	Het
Kmt2a	T	C	9: 44,730,067 (GRCm39)		probably benign	Het
Kpna4	T	C	3: 69,008,750 (GRCm39)	E145G	probably damaging	Het
Lacc1	A	G	14: 77,271,584 (GRCm39)	I201T	possibly damaging	Het
Larp7	T	C	3: 127,337,884 (GRCm39)	K392E	probably damaging	Het
Lbh	T	A	17: 73,228,224 (GRCm39)	M23K	probably benign	Het
Myo15a	A	T	11: 60,382,514 (GRCm39)	E361V	probably damaging	Het
Ncor2	A	G	5: 125,116,046 (GRCm39)	S470P	probably benign	Het
Ngef	T	A	1: 87,412,323 (GRCm39)	M449L	probably benign	Het
Odad1	A	G	7: 45,591,512 (GRCm39)	T259A	probably benign	Het
Or2w3	T	C	11: 58,556,478 (GRCm39)	I31T	possibly damaging	Het
Or7e178	T	A	9: 20,226,045 (GRCm39)	Y57F	probably damaging	Het
Peak1	A	T	9: 56,165,116 (GRCm39)	D937E	probably benign	Het
Pnpla7	A	G	2: 24,872,135 (GRCm39)	K72E	probably benign	Het
Ptprn	T	G	1: 75,224,782 (GRCm39)		probably null	Het
Scgn	C	T	13: 24,146,102 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,741,748 (GRCm39)	I824V	probably benign	Het
Slc38a3	A	G	9: 107,532,847 (GRCm39)	S326P	probably damaging	Het
Spen	A	G	4: 141,199,181 (GRCm39)	S3126P	probably benign	Het
Tbcd	T	C	11: 121,493,815 (GRCm39)	C902R	possibly damaging	Het
Tmem63b	T	C	17: 45,972,445 (GRCm39)	I721V	probably benign	Het
Trim30c	A	G	7: 104,039,658 (GRCm39)	S46P	probably damaging	Het
Trim59	T	C	3: 68,944,941 (GRCm39)	D133G	probably damaging	Het
Trpm7	A	T	2: 126,641,159 (GRCm39)		probably null	Het
Ttll10	A	G	4: 156,128,135 (GRCm39)	L391P	probably damaging	Het
Ttn	T	C	2: 76,623,585 (GRCm39)	T15331A	possibly damaging	Het
Vmn1r237	C	T	17: 21,534,976 (GRCm39)	T233I	probably damaging	Het
Vmn2r115	A	T	17: 23,565,382 (GRCm39)	D423V	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,976 (GRCm39)	R58S	probably benign	Het
Vmn2r71	A	T	7: 85,268,516 (GRCm39)	I240F	probably benign	Het
Wdr3	A	G	3: 100,060,112 (GRCm39)		probably benign	Het
Zc3h14	T	C	12: 98,745,528 (GRCm39)		probably null	Het
Zc3hav1	C	T	6: 38,330,837 (GRCm39)		probably benign	Het
Zfp335	A	T	2: 164,741,415 (GRCm39)		probably null	Het

Other mutations in Cox6a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02336:Cox6a2	APN	7	127,805,103 (GRCm39)	missense	possibly damaging	0.70
IGL02901:Cox6a2	APN	7	127,805,454 (GRCm39)	missense	probably damaging	0.99
IGL03347:Cox6a2	APN	7	127,804,900 (GRCm39)	unclassified	probably benign
R0008:Cox6a2	UTSW	7	127,805,212 (GRCm39)	unclassified	probably benign
R0309:Cox6a2	UTSW	7	127,805,107 (GRCm39)	missense	probably damaging	1.00
R4581:Cox6a2	UTSW	7	127,805,152 (GRCm39)	missense	possibly damaging	0.59
R6269:Cox6a2	UTSW	7	127,805,437 (GRCm39)	missense	probably benign	0.32
R9338:Cox6a2	UTSW	7	127,804,914 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATGCTGTTCCCAAAGAGCC -3'
(R):5'- TGCTCCCTTAACTGCTGGATGCAC -3'

Sequencing Primer
(F):5'- TTGGAACTGTCCACTGGAAC -3'
(R):5'- TGCTGGATGCACGCTGG -3'

Posted On

2013-11-08