Mutagenetix > Incidental Mutation

Incidental Mutation 'R5344:Cox20'

422469

Institutional Source

Beutler Lab

Gene Symbol

Cox20

Ensembl Gene

ENSMUSG00000026500

Gene Name

cytochrome c oxidase assembly protein 20

Synonyms

Fam36a, 2310005N03Rik

MMRRC Submission

042923-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

178146695-178150258 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 178149598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027781] [ENSMUST00000037748] [ENSMUST00000161769]

AlphaFold

Q9D7J4

Predicted Effect

probably benign
Transcript: ENSMUST00000027781

SMART Domains

Protein: ENSMUSP00000027781
Gene: ENSMUSG00000026500

Domain	Start	End	E-Value	Type
Pfam:DUF3767	9	104	5.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000037748

SMART Domains

Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630

Domain	Start	End	E-Value	Type
SAP	8	42	3.57e-11	SMART
low complexity region	70	96	N/A	INTRINSIC
low complexity region	101	154	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
low complexity region	194	207	N/A	INTRINSIC
SPRY	307	439	2.35e-34	SMART
Pfam:AAA_33	475	619	2e-30	PFAM
coiled coil region	626	653	N/A	INTRINSIC
low complexity region	657	675	N/A	INTRINSIC
low complexity region	676	732	N/A	INTRINSIC
low complexity region	736	750	N/A	INTRINSIC
low complexity region	753	791	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159117

Predicted Effect

probably benign
Transcript: ENSMUST00000161769

SMART Domains

Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630

Domain	Start	End	E-Value	Type
SAP	8	42	3.57e-11	SMART
low complexity region	70	96	N/A	INTRINSIC
low complexity region	101	154	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
low complexity region	194	207	N/A	INTRINSIC
SPRY	307	439	2.35e-34	SMART
Pfam:AAA_33	475	619	6.7e-31	PFAM
coiled coil region	626	653	N/A	INTRINSIC
low complexity region	657	675	N/A	INTRINSIC
low complexity region	676	732	N/A	INTRINSIC
low complexity region	736	750	N/A	INTRINSIC
low complexity region	753	773	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162916

Predicted Effect

probably benign
Transcript: ENSMUST00000188044

Predicted Effect

probably benign
Transcript: ENSMUST00000189450

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,289,801 (GRCm39)	C1499G	probably benign	Het
Aldoart1	A	G	4: 72,770,352 (GRCm39)	V152A	possibly damaging	Het
Alms1	T	C	6: 85,673,771 (GRCm39)	L3591P	probably benign	Het
Ankrd12	A	T	17: 66,356,843 (GRCm39)	M58K	probably damaging	Het
Asb3	A	C	11: 31,051,114 (GRCm39)	I523L	probably benign	Het
Ascl2	T	C	7: 142,522,436 (GRCm39)	H4R	possibly damaging	Het
Asic2	T	C	11: 80,862,413 (GRCm39)	M246V	probably damaging	Het
Btc	A	T	5: 91,524,779 (GRCm39)	C53S	possibly damaging	Het
Cdhr5	T	C	7: 140,856,437 (GRCm39)	I39M	probably damaging	Het
Cdkn3	T	A	14: 47,004,807 (GRCm39)	M123K	possibly damaging	Het
Cebpz	A	G	17: 79,233,542 (GRCm39)	Y762H	possibly damaging	Het
Ces1g	T	A	8: 94,063,821 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,236,763 (GRCm39)		probably null	Het
Chd7	G	T	4: 8,844,417 (GRCm39)	G1537W	probably damaging	Het
Clca3a2	A	T	3: 144,793,703 (GRCm39)	D317E	probably damaging	Het
Clec3a	C	A	8: 115,149,712 (GRCm39)	N56K	probably damaging	Het
Col11a1	T	A	3: 114,002,011 (GRCm39)		probably null	Het
Cyp2d22	A	G	15: 82,255,839 (GRCm39)	V471A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,135,163 (GRCm39)	V1339A	probably damaging	Het
Duox2	T	C	2: 122,112,352 (GRCm39)	D1278G	probably benign	Het
Epc1	G	A	18: 6,450,614 (GRCm39)	P284L	probably benign	Het
Evi5l	G	T	8: 4,235,990 (GRCm39)	R61L	possibly damaging	Het
Fbln2	T	C	6: 91,243,365 (GRCm39)	Y914H	probably damaging	Het
Fbxo44	A	G	4: 148,238,030 (GRCm39)	S191P	probably damaging	Het
Fign	A	G	2: 63,809,569 (GRCm39)	I567T	probably benign	Het
Fryl	C	T	5: 73,262,117 (GRCm39)	R550K	probably damaging	Het
Gpcpd1	G	A	2: 132,400,597 (GRCm39)		probably benign	Het
Hectd4	T	C	5: 121,481,739 (GRCm39)	I3096T	probably benign	Het
Hic2	T	A	16: 17,075,712 (GRCm39)	D180E	probably benign	Het
Ibtk	A	G	9: 85,617,057 (GRCm39)	F172L	possibly damaging	Het
Itga1	A	G	13: 115,138,845 (GRCm39)	S369P	possibly damaging	Het
Itgb4	G	A	11: 115,880,575 (GRCm39)	R675Q	probably null	Het
Lrrc3b	T	C	14: 15,358,591 (GRCm38)	D5G	probably damaging	Het
Maml3	T	A	3: 52,011,146 (GRCm39)	D140V	probably damaging	Het
Med21	A	G	6: 146,550,683 (GRCm39)	T65A	probably benign	Het
Mta1	T	C	12: 113,095,186 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,430 (GRCm39)	D152G	probably damaging	Het
Oas1b	C	A	5: 120,960,269 (GRCm39)	Q325K	probably benign	Het
Or10j27	A	G	1: 172,958,673 (GRCm39)	L37P	probably benign	Het
Or2n1c	C	A	17: 38,519,995 (GRCm39)	N286K	probably damaging	Het
Or5d44	A	C	2: 88,141,334 (GRCm39)	C269G	probably benign	Het
Pclo	A	G	5: 14,726,626 (GRCm39)		probably benign	Het
Phactr2	C	T	10: 13,129,360 (GRCm39)	V233I	possibly damaging	Het
Plekha2	A	T	8: 25,533,063 (GRCm39)		probably null	Het
Reg3b	A	G	6: 78,349,843 (GRCm39)	M128V	probably benign	Het
Rnaseh2a	A	G	8: 85,684,735 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,363,073 (GRCm39)	S516G	probably benign	Het
Serpina12	T	A	12: 104,001,807 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,000,540 (GRCm39)	T320A	possibly damaging	Het
Slc26a7	A	T	4: 14,519,402 (GRCm39)	D539E	probably benign	Het
Specc1l	C	A	10: 75,082,007 (GRCm39)	R485S	possibly damaging	Het
Srp54b	T	G	12: 55,302,366 (GRCm39)	I339S	probably damaging	Het
Tada1	G	A	1: 166,207,081 (GRCm39)		probably benign	Het
Trim16	T	C	11: 62,711,751 (GRCm39)	C54R	probably damaging	Het
Trio	C	T	15: 27,735,618 (GRCm39)	R2824Q	probably benign	Het
Ttpa	A	G	4: 20,021,245 (GRCm39)	I138V	probably damaging	Het
Ubap2	A	C	4: 41,251,578 (GRCm39)	M18R	possibly damaging	Het
Usp38	A	G	8: 81,712,392 (GRCm39)	S548P	possibly damaging	Het
Vmn2r73	T	C	7: 85,525,046 (GRCm39)	D34G	probably benign	Het
Vps13d	T	A	4: 144,904,904 (GRCm39)	H74L	probably damaging	Het
Zfp408	C	T	2: 91,475,588 (GRCm39)	C622Y	probably benign	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly damaging	Het
Zfp9	C	A	6: 118,442,140 (GRCm39)	C174F	probably damaging	Het
Zfyve16	A	G	13: 92,658,096 (GRCm39)	I605T	possibly damaging	Het
Zmym5	T	C	14: 57,031,519 (GRCm39)	T530A	probably damaging	Het

Other mutations in Cox20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02154:Cox20	APN	1	178,150,119 (GRCm39)	missense	probably benign	0.01
IGL02318:Cox20	APN	1	178,150,043 (GRCm39)	splice site	probably null
R2128:Cox20	UTSW	1	178,149,512 (GRCm39)	missense	probably benign	0.00
R4551:Cox20	UTSW	1	178,150,114 (GRCm39)	missense	probably benign	0.15
R6155:Cox20	UTSW	1	178,149,362 (GRCm39)	missense	possibly damaging	0.67
R7653:Cox20	UTSW	1	178,150,164 (GRCm39)	missense	probably benign	0.05
R7780:Cox20	UTSW	1	178,149,566 (GRCm39)	missense	probably benign	0.20
R7840:Cox20	UTSW	1	178,150,126 (GRCm39)	missense	probably benign	0.04
R9332:Cox20	UTSW	1	178,146,771 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGACATTTCTTGGTGACCAGTG -3'
(R):5'- ATGGAATTCTGCCACTCGTC -3'

Sequencing Primer
(F):5'- CTTGGTGACCAGTGAGTATTTTCC -3'
(R):5'- CCACTCGTCTGTTAAACATTCAATGG -3'

Posted On

2016-08-04