Mutagenetix > Incidental Mutation

Incidental Mutation 'R6155:Cox20'

489496

Institutional Source

Beutler Lab

Gene Symbol

Cox20

Ensembl Gene

ENSMUSG00000026500

Gene Name

cytochrome c oxidase assembly protein 20

Synonyms

Fam36a, 2310005N03Rik

MMRRC Submission

044302-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

178146695-178150258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 178149362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 31 (E31G)

Ref Sequence

ENSEMBL: ENSMUSP00000027781 (fasta)

Gene Model

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

AlphaFold

Q9D7J4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027781
AA Change: E31G

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027781
Gene: ENSMUSG00000026500
AA Change: E31G

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 105,111,510 (GRCm39)	Y319C	probably benign	Het
Actn4	A	C	7: 28,595,566 (GRCm39)	I763S	probably damaging	Het
Actr8	G	A	14: 29,700,546 (GRCm39)		probably null	Het
Adrb1	T	C	19: 56,711,336 (GRCm39)	L178P	probably damaging	Het
Afap1	A	G	5: 36,092,953 (GRCm39)	Y19C	unknown	Het
Ankrd36	A	G	11: 5,637,442 (GRCm39)	E1337G	probably benign	Het
Arl4a	A	C	12: 40,086,519 (GRCm39)	V76G	probably damaging	Het
Bmp1	A	T	14: 70,745,447 (GRCm39)	I246K	probably damaging	Het
Camk4	A	T	18: 33,072,500 (GRCm39)	T18S	unknown	Het
Cep152	T	C	2: 125,423,620 (GRCm39)	H927R	probably benign	Het
Clca3a2	A	G	3: 144,525,118 (GRCm39)	I38T	probably damaging	Het
Clec2g	A	C	6: 128,957,236 (GRCm39)	T54P	probably damaging	Het
Crispld1	T	A	1: 17,823,241 (GRCm39)	H407Q	probably benign	Het
Csmd1	T	C	8: 15,953,231 (GRCm39)	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,915,170 (GRCm39)	H700Q	probably null	Het
Dnah10	G	A	5: 124,847,663 (GRCm39)	V1516M	probably damaging	Het
Dnah10	A	G	5: 124,862,239 (GRCm39)	T2165A	probably damaging	Het
Dock2	C	G	11: 34,244,123 (GRCm39)	M1072I	probably benign	Het
F11	T	A	8: 45,705,119 (GRCm39)	T141S	probably damaging	Het
Gabra6	T	A	11: 42,207,350 (GRCm39)	I245F	probably damaging	Het
H2-T5	G	A	17: 36,478,399 (GRCm39)	A211V	possibly damaging	Het
Herc1	T	A	9: 66,340,705 (GRCm39)	C1685S	possibly damaging	Het
Iftap	A	T	2: 101,406,355 (GRCm39)		probably null	Het
Il20	G	T	1: 130,838,477 (GRCm39)	D73E	probably damaging	Het
Ireb2	C	A	9: 54,793,811 (GRCm39)	P247Q	probably damaging	Het
Kcng3	T	C	17: 83,895,807 (GRCm39)	I220V	probably benign	Het
Lce1j	T	G	3: 92,696,379 (GRCm39)	Q133P	unknown	Het
Lgals9	C	T	11: 78,854,331 (GRCm39)	A287T	probably benign	Het
Lrrc52	A	G	1: 167,294,296 (GRCm39)		probably benign	Het
Map3k5	A	T	10: 19,994,187 (GRCm39)	H1027L	probably benign	Het
Morc3	A	G	16: 93,659,313 (GRCm39)	D407G	possibly damaging	Het
Myom1	T	C	17: 71,415,690 (GRCm39)		probably null	Het
Ncapg2	T	C	12: 116,401,631 (GRCm39)	F673S	possibly damaging	Het
Ncoa6	T	C	2: 155,249,368 (GRCm39)	D1312G	probably damaging	Het
Nkx1-1	A	T	5: 33,588,395 (GRCm39)	F298I	probably damaging	Het
Npas2	G	A	1: 39,326,557 (GRCm39)	R14Q	probably damaging	Het
Npas4	C	T	19: 5,036,898 (GRCm39)	C422Y	probably damaging	Het
Or11h4	T	C	14: 50,974,076 (GRCm39)	D181G	probably benign	Het
Or2y11	T	A	11: 49,443,411 (GRCm39)	I279N	possibly damaging	Het
Or4c123	A	G	2: 89,126,765 (GRCm39)	L283S	probably damaging	Het
Or5p4	T	C	7: 107,680,493 (GRCm39)	V164A	probably benign	Het
Pcdhga4	T	C	18: 37,819,546 (GRCm39)	I365T	probably damaging	Het
Pear1	T	A	3: 87,666,875 (GRCm39)	T37S	probably damaging	Het
Pkn2	A	T	3: 142,559,454 (GRCm39)	F24I	probably benign	Het
Plcb3	G	A	19: 6,943,533 (GRCm39)	A122V	probably damaging	Het
Pnliprp1	T	C	19: 58,718,565 (GRCm39)		probably null	Het
Pramel28	T	A	4: 143,691,712 (GRCm39)	H337L	probably benign	Het
Psmb3	T	A	11: 97,603,278 (GRCm39)	F164I	probably damaging	Het
Ptch2	T	A	4: 116,954,105 (GRCm39)	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,216,849 (GRCm39)		probably benign	Het
Pusl1	A	G	4: 155,975,005 (GRCm39)	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,452,531 (GRCm39)	L35I	probably damaging	Het
Rictor	T	C	15: 6,823,458 (GRCm39)	L1545P	probably benign	Het
Rtn4r	A	T	16: 17,969,258 (GRCm39)	M229L	probably benign	Het
Ruvbl1	A	T	6: 88,456,107 (GRCm39)		probably null	Het
Slc35b3	A	T	13: 39,128,572 (GRCm39)	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,387,136 (GRCm39)	V207A	possibly damaging	Het
Sox13	A	G	1: 133,321,005 (GRCm39)	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,087,403 (GRCm39)	L999R	probably damaging	Het
Taf4	A	G	2: 179,555,317 (GRCm39)	V1015A	probably damaging	Het
Top3b	T	C	16: 16,709,373 (GRCm39)	L687P	probably damaging	Het
Tpp2	T	A	1: 43,995,649 (GRCm39)	V268E	probably damaging	Het
Ttc6	T	C	12: 57,784,402 (GRCm39)	Y1824H	possibly damaging	Het
Txk	A	G	5: 72,858,069 (GRCm39)	Y360H	probably damaging	Het
Vmn2r57	T	C	7: 41,078,114 (GRCm39)	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,286,143 (GRCm39)	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,106,495 (GRCm39)		probably null	Het
Zzz3	A	G	3: 152,133,319 (GRCm39)	I126V	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
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'- GCTGAAGTAAATCCTGAAGTGGC -3'
(R):5'- ACACAGTGAGAGACCCTGTC -3'

Sequencing Primer
(F):5'- GGCAGATTAGAACACTTTAAGTTGGC -3'
(R):5'- GTGCGCGTATATACACATCCATG -3'

Posted On

2017-10-10