Mutagenetix > Incidental Mutation

Incidental Mutation 'R7840:Cox20'

606194

Institutional Source

Beutler Lab

Gene Symbol

Cox20

Ensembl Gene

ENSMUSG00000026500

Gene Name

cytochrome c oxidase assembly protein 20

Synonyms

Fam36a, 2310005N03Rik

MMRRC Submission

045894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7840 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

178146695-178150258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 178150126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 100 (Y100F)

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: Y100F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027781
Gene: ENSMUSG00000026500
AA Change: Y100F

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (73/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,074,689 (GRCm39)	N577S	probably benign	Het
Ang4	A	G	14: 52,001,529 (GRCm39)	S140P	probably damaging	Het
Ankdd1b	T	C	13: 96,556,306 (GRCm39)		probably null	Het
Anln	G	T	9: 22,274,019 (GRCm39)	A606D	probably benign	Het
Ano5	T	G	7: 51,237,480 (GRCm39)	V768G	possibly damaging	Het
Ccdc180	A	T	4: 45,900,461 (GRCm39)	Y275F	possibly damaging	Het
Chpf	T	C	1: 75,453,271 (GRCm39)	Y334C	probably damaging	Het
Chrdl2	T	C	7: 99,682,863 (GRCm39)	L381S	probably damaging	Het
Cibar2	T	C	8: 120,893,372 (GRCm39)	D273G	probably benign	Het
Dbn1	T	C	13: 55,623,322 (GRCm39)	D433G	possibly damaging	Het
Dclre1a	A	T	19: 56,519,684 (GRCm39)	I983N	probably damaging	Het
Dok6	A	T	18: 89,578,182 (GRCm39)	H78Q	probably benign	Het
Efcab3	G	A	11: 104,624,539 (GRCm39)	D878N	probably benign	Het
Fpr1	A	T	17: 18,097,634 (GRCm39)	F118L	probably benign	Het
Fscn3	A	G	6: 28,430,175 (GRCm39)	Y115C	probably damaging	Het
Gabra4	A	C	5: 71,798,256 (GRCm39)		probably null	Het
Gm45861	T	C	8: 28,072,751 (GRCm39)	V1290A	unknown	Het
Hivep1	T	C	13: 42,308,828 (GRCm39)	V356A	probably benign	Het
Ikbip	T	C	10: 90,937,617 (GRCm39)	Y97H	possibly damaging	Het
Il10	A	G	1: 130,947,805 (GRCm39)	T53A	probably benign	Het
Inpp5f	T	C	7: 128,296,526 (GRCm39)	V959A	probably benign	Het
Insr	T	C	8: 3,308,415 (GRCm39)	E207G	probably benign	Het
Kndc1	T	A	7: 139,503,731 (GRCm39)	S1012T	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Ksr2	T	C	5: 117,693,329 (GRCm39)	V259A	probably benign	Het
Lox	A	T	18: 52,658,194 (GRCm39)	Y326*	probably null	Het
Lpin2	C	A	17: 71,537,269 (GRCm39)	T272N	probably benign	Het
Lrp2	C	T	2: 69,295,128 (GRCm39)	E3397K	probably damaging	Het
Megf11	G	A	9: 64,602,709 (GRCm39)	C850Y	possibly damaging	Het
Morc1	T	C	16: 48,319,147 (GRCm39)	F284L	probably benign	Het
Moxd2	T	A	6: 40,862,378 (GRCm39)	D147V	possibly damaging	Het
Mrpl21	T	C	19: 3,337,752 (GRCm39)	L153P	probably damaging	Het
Naip2	T	C	13: 100,280,917 (GRCm39)	T1432A	probably benign	Het
Naip6	T	A	13: 100,451,979 (GRCm39)	D211V	probably damaging	Het
Ncoa5	T	C	2: 164,854,816 (GRCm39)	H102R	possibly damaging	Het
Ndel1	A	T	11: 68,720,806 (GRCm39)	C293*	probably null	Het
Ninl	A	T	2: 150,808,016 (GRCm39)	M82K	probably benign	Het
Nrcam	G	A	12: 44,587,858 (GRCm39)		probably null	Het
Nup210l	A	T	3: 90,030,036 (GRCm39)	I250L	probably benign	Het
Obscn	T	C	11: 58,968,776 (GRCm39)	E2532G	possibly damaging	Het
Or1e1	C	A	11: 73,244,585 (GRCm39)	A2E	probably benign	Het
Or5v1	G	T	17: 37,809,868 (GRCm39)	G109C	probably damaging	Het
Or8j3c	A	G	2: 86,253,583 (GRCm39)	F146L	probably benign	Het
Osgin1	G	A	8: 120,171,773 (GRCm39)	S189N	possibly damaging	Het
Otud7b	A	G	3: 96,062,690 (GRCm39)	E643G	probably damaging	Het
Phldb2	T	A	16: 45,571,727 (GRCm39)	T1222S	probably damaging	Het
Pwp1	C	T	10: 85,723,914 (GRCm39)	R472W	probably damaging	Het
Rad21	T	C	15: 51,836,538 (GRCm39)	Y211C	probably damaging	Het
Rexo1	A	G	10: 80,386,572 (GRCm39)	V162A	probably benign	Het
Rtl1	C	T	12: 109,560,589 (GRCm39)	V417I	probably benign	Het
Setbp1	G	A	18: 78,826,639 (GRCm39)	P1325S	probably benign	Het
Shld1	A	G	2: 132,592,510 (GRCm39)	T186A	probably damaging	Het
Shld2	A	G	14: 33,959,523 (GRCm39)	Y820H	probably damaging	Het
Skint7	G	T	4: 111,839,423 (GRCm39)	C239F	probably benign	Het
Slc25a1	A	G	16: 17,744,138 (GRCm39)	L221P	probably benign	Het
Snrnp70	T	A	7: 45,026,214 (GRCm39)	D385V	unknown	Het
Sp7	A	C	15: 102,267,533 (GRCm39)	V109G	probably benign	Het
Syne1	A	T	10: 5,082,078 (GRCm39)	Y849N	probably damaging	Het
Tas2r108	T	C	6: 40,470,790 (GRCm39)	F89L	possibly damaging	Het
Tcf3	C	T	10: 80,246,301 (GRCm39)	A581T	possibly damaging	Het
Tcta	A	G	9: 108,182,986 (GRCm39)	L53P	probably damaging	Het
Traf3ip2	C	G	10: 39,502,451 (GRCm39)	Q200E	probably damaging	Het
Trgc1	A	T	13: 19,400,691 (GRCm39)	Y140F		Het
Tyk2	A	T	9: 21,036,263 (GRCm39)	C75S	probably damaging	Het
Ugt3a1	G	A	15: 9,311,903 (GRCm39)	G382R	probably damaging	Het
Upp2	G	T	2: 58,664,127 (GRCm39)		probably null	Het
Vmn1r212	A	T	13: 23,067,323 (GRCm39)	F337I	unknown	Het
Vmn1r58	T	C	7: 5,414,242 (GRCm39)		probably benign	Het
Vps13d	A	T	4: 144,830,246 (GRCm39)	V2856D		Het
Wdr37	A	C	13: 8,886,911 (GRCm39)	L292R	probably damaging	Het
Yipf3	T	C	17: 46,561,790 (GRCm39)	I199T	probably benign	Het
Zdhhc23	A	G	16: 43,791,907 (GRCm39)	S289P	possibly damaging	Het
Zfp229	A	T	17: 21,965,131 (GRCm39)	K454*	probably null	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
R7780:Cox20	UTSW	1	178,149,566 (GRCm39)	missense	probably benign	0.20
R9332:Cox20	UTSW	1	178,146,771 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCAAGAGATTCCTACAGTGTTTG -3'
(R):5'- TGGCATGGTCTAACAAACATACTG -3'

Sequencing Primer
(F):5'- CCTACAGTGTTTGTTCTACAACAGG -3'
(R):5'- GGTCTAACAAACATACTGTACTGGC -3'

Posted On

2019-12-20