Mutagenetix > Incidental Mutation

Incidental Mutation 'R8883:Cox10'

677118

Institutional Source

Beutler Lab

Gene Symbol

Cox10

Ensembl Gene

ENSMUSG00000042148

Gene Name

heme A:farnesyltransferase cytochrome c oxidase assembly factor 10

Synonyms

2410004F01Rik

MMRRC Submission

068689-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R8883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63853453-63970294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63884775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 210 (E210G)

Ref Sequence

ENSEMBL: ENSMUSP00000040138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049091]

AlphaFold

Q8CFY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000049091
AA Change: E210G

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

SMART Domains

Protein: ENSMUSP00000040138
Gene: ENSMUSG00000042148
AA Change: E210G

Domain	Start	End	E-Value	Type
Pfam:UbiA	168	418	5e-58	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,283,168 (GRCm39)	S3197P	probably benign	Het
Arih2	A	G	9: 108,486,992 (GRCm39)	S315P	probably damaging	Het
Atp1b3	A	T	9: 96,246,122 (GRCm39)	L29Q	probably damaging	Het
Bsn	G	A	9: 107,990,227 (GRCm39)	P1842S	probably damaging	Het
Ccnb1ip1	G	C	14: 51,027,359 (GRCm39)	P248A	probably benign	Het
Cep76	T	C	18: 67,766,540 (GRCm39)	Q262R	probably benign	Het
Dcaf1	T	G	9: 106,724,839 (GRCm39)		probably benign	Het
Dgki	A	T	6: 36,993,608 (GRCm39)	D584E	probably damaging	Het
Evpl	T	C	11: 116,121,243 (GRCm39)	E428G	probably damaging	Het
Fbh1	A	G	2: 11,753,922 (GRCm39)	F807L	probably benign	Het
Fbxo11	A	G	17: 88,305,044 (GRCm39)	V533A		Het
Fermt3	G	T	19: 6,980,600 (GRCm39)	D322E	probably damaging	Het
Fsip2	G	T	2: 82,809,524 (GRCm39)	V1948L	possibly damaging	Het
Gata4	T	C	14: 63,442,204 (GRCm39)	D206G	probably benign	Het
Gjd3	A	G	11: 102,691,769 (GRCm39)	V78A	probably damaging	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Hmces	G	A	6: 87,910,396 (GRCm39)	A269T	probably benign	Het
Kalrn	A	T	16: 33,814,025 (GRCm39)	N2434K	probably damaging	Het
Kif1b	A	T	4: 149,361,342 (GRCm39)	S49T	probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lap3	C	A	5: 45,669,272 (GRCm39)	H474N	probably benign	Het
Ldlrad1	A	G	4: 107,073,412 (GRCm39)	Y149C	probably damaging	Het
Lsm8	T	C	6: 18,851,747 (GRCm39)	V62A	probably benign	Het
Map3k14	T	G	11: 103,130,278 (GRCm39)	Q213P	probably benign	Het
Mboat2	T	G	12: 25,009,033 (GRCm39)	H478Q		Het
Mepce	C	A	5: 137,784,779 (GRCm39)		probably benign	Het
Mical1	G	A	10: 41,355,636 (GRCm39)	R233H		Het
Muc2	A	G	7: 141,287,469 (GRCm39)	H216R	probably damaging	Het
Ntmt1	G	A	2: 30,712,466 (GRCm39)	A170T	probably benign	Het
Or2ag15	A	G	7: 106,340,274 (GRCm39)	I289T	possibly damaging	Het
Or2d3	A	C	7: 106,490,536 (GRCm39)	M260R	probably damaging	Het
Or5w17	T	A	2: 87,583,838 (GRCm39)	L166F	probably damaging	Het
Or8g19	A	G	9: 39,056,083 (GRCm39)	H229R	probably benign	Het
Pebp4	G	T	14: 70,085,098 (GRCm39)	C52F	probably damaging	Het
Pigm	T	A	1: 172,205,085 (GRCm39)	Y274N	probably damaging	Het
Pik3r6	T	C	11: 68,424,468 (GRCm39)	S358P	probably benign	Het
Plekhd1	T	C	12: 80,767,368 (GRCm39)	I252T	probably benign	Het
Prss3b	G	T	6: 41,009,305 (GRCm39)	Y176*	probably null	Het
Racgap1	A	G	15: 99,526,540 (GRCm39)	V341A	probably benign	Het
Rprd1a	T	C	18: 24,640,260 (GRCm39)	D172G	possibly damaging	Het
Spg11	T	C	2: 121,943,561 (GRCm39)	D197G	probably damaging	Het
Spmap2	T	C	10: 79,412,474 (GRCm39)	D339G	probably benign	Het
Spta1	A	T	1: 174,021,145 (GRCm39)	K574N	possibly damaging	Het
Srrd	A	T	5: 112,487,790 (GRCm39)	F130L	possibly damaging	Het
Stim1	A	T	7: 102,080,257 (GRCm39)	H547L	unknown	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tap1	T	C	17: 34,406,867 (GRCm39)	V5A	unknown	Het
Tent5c	C	A	3: 100,379,707 (GRCm39)	A350S	probably benign	Het
Usp45	G	A	4: 21,825,006 (GRCm39)	G586D	probably damaging	Het
Vps13c	G	T	9: 67,855,479 (GRCm39)	A2515S	probably benign	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfyve28	T	C	5: 34,375,211 (GRCm39)		probably null	Het

Other mutations in Cox10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02746:Cox10	APN	11	63,855,357 (GRCm39)	splice site	probably benign
PIT4504001:Cox10	UTSW	11	63,855,042 (GRCm39)	missense	possibly damaging	0.66
R0548:Cox10	UTSW	11	63,867,178 (GRCm39)	missense	probably damaging	1.00
R0811:Cox10	UTSW	11	63,962,539 (GRCm39)	missense	probably benign
R0812:Cox10	UTSW	11	63,962,539 (GRCm39)	missense	probably benign
R2175:Cox10	UTSW	11	63,962,475 (GRCm39)	missense	probably benign	0.01
R4290:Cox10	UTSW	11	63,855,081 (GRCm39)	missense	probably benign	0.00
R4681:Cox10	UTSW	11	63,867,277 (GRCm39)	missense	possibly damaging	0.94
R4770:Cox10	UTSW	11	63,854,989 (GRCm39)	missense	probably benign	0.00
R5873:Cox10	UTSW	11	63,962,512 (GRCm39)	missense	probably benign	0.00
R6457:Cox10	UTSW	11	63,855,198 (GRCm39)	missense	probably damaging	0.99
R7955:Cox10	UTSW	11	63,884,750 (GRCm39)	missense	probably benign	0.25
R8731:Cox10	UTSW	11	63,855,045 (GRCm39)	missense	probably damaging	1.00
R8821:Cox10	UTSW	11	63,855,306 (GRCm39)	missense	probably damaging	1.00
R8831:Cox10	UTSW	11	63,855,306 (GRCm39)	missense	probably damaging	1.00
R9684:Cox10	UTSW	11	63,855,207 (GRCm39)	missense	probably damaging	1.00
X0064:Cox10	UTSW	11	63,884,783 (GRCm39)	critical splice acceptor site	probably null
Z1177:Cox10	UTSW	11	63,867,296 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TGCTAATGAGGCCAAGAACCTG -3'
(R):5'- ACTTCTTGTTATCAGAGGTGAGATG -3'

Sequencing Primer
(F):5'- GCCAAGAACCTGAGACTAGATG -3'
(R):5'- CTTGTTATCAGAGGTGAGATGAGAAG -3'

Posted On

2021-08-02