Mutagenetix > Incidental Mutation

Incidental Mutation 'R7780:Cox20'

599138

Institutional Source

Beutler Lab

Gene Symbol

Cox20

Ensembl Gene

ENSMUSG00000026500

Gene Name

cytochrome c oxidase assembly protein 20

Synonyms

Fam36a, 2310005N03Rik

MMRRC Submission

045836-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7780 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

178146695-178150258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 178149566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 72 (C72R)

Ref Sequence

ENSEMBL: ENSMUSP00000027781 (fasta)

Gene Model

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

AlphaFold

Q9D7J4

Predicted Effect

probably benign
Transcript: ENSMUST00000027781
AA Change: C72R

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027781
Gene: ENSMUSG00000026500
AA Change: C72R

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

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

probably benign
Transcript: ENSMUST00000188044

Predicted Effect

probably benign
Transcript: ENSMUST00000189450

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	C	T	8: 25,294,432 (GRCm39)	R389K	possibly damaging	Het
Ahnak2	C	T	12: 112,746,716 (GRCm39)	V1205M		Het
Ccr3	A	G	9: 123,828,989 (GRCm39)	Y108C	probably benign	Het
Cers5	T	G	15: 99,637,589 (GRCm39)	H220P	probably damaging	Het
Cfap61	A	T	2: 145,995,692 (GRCm39)	N1086Y	possibly damaging	Het
Cip2a	T	A	16: 48,822,023 (GRCm39)	L217*	probably null	Het
Clstn3	T	C	6: 124,439,161 (GRCm39)	E32G	probably damaging	Het
Csf1	A	T	3: 107,657,709 (GRCm39)	N154K	probably damaging	Het
Cyp2j7	T	A	4: 96,118,256 (GRCm39)	K112N	probably benign	Het
Drosha	A	G	15: 12,848,172 (GRCm39)	D488G	probably benign	Het
Edem1	A	G	6: 108,818,589 (GRCm39)	K199R	probably benign	Het
Esyt2	T	C	12: 116,305,718 (GRCm39)	I316T	probably benign	Het
Evpl	C	T	11: 116,125,000 (GRCm39)	R154H	not run	Het
Fbn1	A	G	2: 125,143,678 (GRCm39)	L2817P	probably benign	Het
Fbxo42	T	A	4: 140,921,131 (GRCm39)		probably null	Het
Fbxo43	T	C	15: 36,162,358 (GRCm39)	D283G	probably damaging	Het
Fdxr	A	T	11: 115,167,656 (GRCm39)	S20T	probably benign	Het
Fkbp10	T	C	11: 100,312,048 (GRCm39)	Y203H	probably damaging	Het
Galntl6	C	T	8: 58,880,733 (GRCm39)		probably null	Het
Gask1b	G	A	3: 79,848,711 (GRCm39)	G486S	probably damaging	Het
Gm26657	C	A	4: 56,741,056 (GRCm39)	Y80*	probably null	Het
Gm973	T	A	1: 59,597,289 (GRCm39)	W440R	probably damaging	Het
Helz	T	A	11: 107,528,689 (GRCm39)	F903Y	probably damaging	Het
Iqcf4	T	A	9: 106,445,860 (GRCm39)	I96F	possibly damaging	Het
Kcnq5	T	A	1: 22,031,555 (GRCm39)	Q84L	probably benign	Het
Krit1	G	A	5: 3,862,772 (GRCm39)	G254S	probably damaging	Het
Krtap6-2	A	T	16: 89,216,510 (GRCm39)	Y152*	probably null	Het
Loricrin	A	T	3: 91,988,460 (GRCm39)	Y275*	probably null	Het
Map4	T	C	9: 109,863,720 (GRCm39)	I315T	probably benign	Het
Mcpt1	T	A	14: 56,256,609 (GRCm39)		probably null	Het
Mdh1b	C	A	1: 63,759,133 (GRCm39)	S153I	possibly damaging	Het
Mfsd12	C	A	10: 81,193,718 (GRCm39)	A96E	probably benign	Het
Mki67	T	C	7: 135,315,697 (GRCm39)	E55G	probably benign	Het
Mterf4	T	C	1: 93,232,689 (GRCm39)	E54G	probably benign	Het
Mucl3	A	G	17: 35,947,874 (GRCm39)	S452P	possibly damaging	Het
Nuggc	T	A	14: 65,882,490 (GRCm39)	I745N	probably damaging	Het
Or6k6	T	C	1: 173,945,115 (GRCm39)	I156V	probably benign	Het
Or7g18	A	G	9: 18,786,910 (GRCm39)	T93A	possibly damaging	Het
Parg	A	T	14: 31,930,758 (GRCm39)	N126I	possibly damaging	Het
Pcdh9	T	C	14: 94,123,987 (GRCm39)	I728V	possibly damaging	Het
Pcdha1	C	G	18: 37,065,511 (GRCm39)	P725R	probably benign	Het
Pcdha11	T	A	18: 37,145,849 (GRCm39)	L647M	probably damaging	Het
Phb2	T	C	6: 124,692,995 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,483,610 (GRCm39)		probably null	Het
Pmch	T	A	10: 87,927,113 (GRCm39)	F39I	probably benign	Het
Psmd7	A	T	8: 108,307,920 (GRCm39)	S188T	possibly damaging	Het
Pycr2	T	A	1: 180,733,913 (GRCm39)	D168E	probably damaging	Het
Rab43	A	G	6: 87,771,692 (GRCm39)	Y96H	probably damaging	Het
Ralgapa2	C	T	2: 146,184,334 (GRCm39)	G1511S	probably benign	Het
Rb1cc1	T	A	1: 6,319,138 (GRCm39)	C852*	probably null	Het
Rexo2	T	C	9: 48,380,145 (GRCm39)	N229S	probably damaging	Het
Sema4f	A	G	6: 82,890,941 (GRCm39)	V622A	possibly damaging	Het
Serpina10	T	C	12: 103,594,806 (GRCm39)	S138G	probably benign	Het
Sptbn4	T	A	7: 27,061,059 (GRCm39)	T2415S	possibly damaging	Het
Tbc1d22b	A	G	17: 29,792,040 (GRCm39)	N257D	probably benign	Het
Tbl3	A	G	17: 24,921,205 (GRCm39)	F529L	probably damaging	Het
Them6	A	T	15: 74,593,427 (GRCm39)	N95I	probably benign	Het
Thrb	T	C	14: 18,008,608 (GRCm38)	S156P	possibly damaging	Het
Tmem186	G	A	16: 8,453,731 (GRCm39)	R177C	probably benign	Het
Ttn	T	A	2: 76,660,937 (GRCm39)		probably null	Het
Unc13a	T	A	8: 72,110,979 (GRCm39)	I411F	probably benign	Het
Uqcc1	T	C	2: 155,752,073 (GRCm39)		probably null	Het
Vmn1r56	T	C	7: 5,199,516 (GRCm39)	T34A	possibly damaging	Het
Vps39	A	T	2: 120,155,680 (GRCm39)	Y542*	probably null	Het
Wdr64	T	C	1: 175,556,542 (GRCm39)	L263P	probably damaging	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Wfdc16	A	G	2: 164,477,785 (GRCm39)	M88T	probably benign	Het
Wnk4	A	G	11: 101,160,403 (GRCm39)	D679G	probably damaging	Het
Ykt6	T	C	11: 5,912,751 (GRCm39)	I151T	probably benign	Het
Zbtb46	A	G	2: 181,033,225 (GRCm39)	C479R	probably damaging	Het
Zc3h7a	A	G	16: 10,967,115 (GRCm39)	I559T	probably benign	Het
Zfhx3	A	G	8: 109,678,283 (GRCm39)	N3111S	possibly damaging	Het
Zfp619	T	C	7: 39,184,432 (GRCm39)	V154A	possibly damaging	Het
Zfp629	A	T	7: 127,211,601 (GRCm39)	D69E	probably benign	Het
Zfp882	T	A	8: 72,668,073 (GRCm39)	I300N	possibly damaging	Het
Zfp934	T	C	13: 62,666,358 (GRCm39)	H106R	possibly damaging	Het
Zfta	T	C	19: 7,399,737 (GRCm39)	S495P	probably damaging	Het
Zfyve9	G	A	4: 108,576,298 (GRCm39)	T261I	possibly 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
R5344:Cox20	UTSW	1	178,149,598 (GRCm39)	unclassified	probably benign
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
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'- TGTGACTGGACTTGGACATTTC -3'
(R):5'- AATTCTGCCACTCGTCTGTTAAAC -3'

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

Posted On

2019-11-26