Mutagenetix > Incidental Mutation

Incidental Mutation 'R2698:Cox4i1'

476703

Institutional Source

Beutler Lab

Gene Symbol

Cox4i1

Ensembl Gene

ENSMUSG00000031818

Gene Name

cytochrome c oxidase subunit 4I1

Synonyms

COXIV, Cox4a, Cox4

MMRRC Submission

040436-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121394964-121400948 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 121396102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034276] [ENSMUST00000034277] [ENSMUST00000127664] [ENSMUST00000180417] [ENSMUST00000181795] [ENSMUST00000181847] [ENSMUST00000181586] [ENSMUST00000181333] [ENSMUST00000181950] [ENSMUST00000181334]

AlphaFold

P19783

Predicted Effect

silent
Transcript: ENSMUST00000034276

SMART Domains

Protein: ENSMUSP00000034276
Gene: ENSMUSG00000031818

Domain	Start	End	E-Value	Type
Pfam:COX4	28	168	2.5e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034277

SMART Domains

Protein: ENSMUSP00000034277
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	3	199	4.2e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180417

SMART Domains

Protein: ENSMUSP00000137767
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	103	1.4e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181026

Predicted Effect

probably benign
Transcript: ENSMUST00000181795

SMART Domains

Protein: ENSMUSP00000138063
Gene: ENSMUSG00000031818

Domain	Start	End	E-Value	Type
Pfam:COX4	2	92	4.5e-35	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000181847

SMART Domains

Protein: ENSMUSP00000138053
Gene: ENSMUSG00000031818

Domain	Start	End	E-Value	Type
PDB:2Y69\|Q	1	35	4e-7	PDB

Predicted Effect

silent
Transcript: ENSMUST00000181586

SMART Domains

Protein: ENSMUSP00000138019
Gene: ENSMUSG00000031818

Domain	Start	End	E-Value	Type
Pfam:COX4	26	168	3.7e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181172

Predicted Effect

probably benign
Transcript: ENSMUST00000181111

Predicted Effect

probably benign
Transcript: ENSMUST00000181836

Predicted Effect

probably benign
Transcript: ENSMUST00000181333

SMART Domains

Protein: ENSMUSP00000137785
Gene: ENSMUSG00000097919

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	79	4.9e-29	PFAM
Pfam:DUF4597	93	155	2.5e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181950

SMART Domains

Protein: ENSMUSP00000137970
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	74	1.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181334

SMART Domains

Protein: ENSMUSP00000137850
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	101	6.8e-43	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,578,862 (GRCm39)	R901G	possibly damaging	Het
Abhd18	T	A	3: 40,885,401 (GRCm39)	M262K	probably benign	Het
Ano2	C	A	6: 125,689,309 (GRCm39)	L145I	probably benign	Het
Ckap5	T	C	2: 91,408,426 (GRCm39)	W874R	probably damaging	Het
Cwc27	A	T	13: 104,943,259 (GRCm39)	N94K	probably damaging	Het
Dcaf11	T	C	14: 55,804,342 (GRCm39)	S372P	probably damaging	Het
Dpysl4	A	G	7: 138,676,681 (GRCm39)	N356S	probably damaging	Het
Dusp8	A	G	7: 141,635,701 (GRCm39)		probably benign	Het
Erc2	G	A	14: 27,993,662 (GRCm39)	V894M	probably benign	Het
Fbxo28	T	A	1: 182,144,719 (GRCm39)	I282F	probably benign	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gabra4	T	C	5: 71,729,421 (GRCm39)	H453R	probably benign	Het
Glrx	T	A	13: 75,988,065 (GRCm39)		probably null	Het
Gm11541	A	T	11: 94,586,441 (GRCm39)	L102*	probably null	Het
Gm5113	T	A	7: 29,878,150 (GRCm39)	Y79*	probably null	Het
Gpr87	T	A	3: 59,086,587 (GRCm39)	N306I	probably damaging	Het
Hydin	T	A	8: 111,336,561 (GRCm39)	Y5113N	possibly damaging	Het
Iqsec3	C	T	6: 121,390,430 (GRCm39)		probably benign	Het
Kbtbd8	C	A	6: 95,103,570 (GRCm39)	Y406*	probably null	Het
Lamb1	G	T	12: 31,348,882 (GRCm39)	R590L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lnpk	T	C	2: 74,367,845 (GRCm39)	E165G	probably damaging	Het
Lrp4	C	T	2: 91,305,557 (GRCm39)	R276C	probably damaging	Het
Lrrc7	T	A	3: 157,841,028 (GRCm39)	T1384S	probably benign	Het
Mia2	T	C	12: 59,217,780 (GRCm39)		probably null	Het
Morc2a	T	C	11: 3,635,400 (GRCm39)	V797A	probably damaging	Het
Mrps23	T	C	11: 88,096,193 (GRCm39)		probably benign	Het
Muc17	A	T	5: 137,175,484 (GRCm39)	I62K	probably damaging	Het
Nlrp4g	T	A	9: 124,349,630 (GRCm38)		noncoding transcript	Het
Nptx1	A	T	11: 119,435,669 (GRCm39)		probably benign	Het
Or1j20	T	A	2: 36,760,208 (GRCm39)	I210K	possibly damaging	Het
Pabpc1l	T	G	2: 163,886,302 (GRCm39)		probably null	Het
Pdcd6ip	A	T	9: 113,503,575 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Plcxd1	A	G	5: 110,250,349 (GRCm39)	Q230R	probably benign	Het
Psme4	T	A	11: 30,824,282 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptch1	T	A	13: 63,690,038 (GRCm39)	N320Y	probably damaging	Het
Qars1	G	A	9: 108,385,642 (GRCm39)	V60I	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rhag	T	C	17: 41,147,367 (GRCm39)	S410P	probably damaging	Het
Rnf213	A	G	11: 119,300,970 (GRCm39)	K297E	probably benign	Het
Rps6ka4	T	C	19: 6,814,720 (GRCm39)	E294G	probably benign	Het
Scaf4	T	A	16: 90,041,244 (GRCm39)	I695F	unknown	Het
Scrn2	T	C	11: 96,923,122 (GRCm39)		probably benign	Het
Scx	T	A	15: 76,342,363 (GRCm39)	C188S	probably damaging	Het
Sdk1	G	T	5: 142,197,805 (GRCm39)	V1893L	possibly damaging	Het
Sema5a	C	A	15: 32,673,546 (GRCm39)	Q795K	probably damaging	Het
Slc24a3	A	G	2: 145,455,487 (GRCm39)	S459G	probably benign	Het
Smurf1	A	G	5: 144,820,372 (GRCm39)		probably benign	Het
Taar4	T	C	10: 23,837,328 (GRCm39)	Y313H	probably damaging	Het
Tmprss11c	A	G	5: 86,419,322 (GRCm39)	F79S	probably damaging	Het
Tnfaip8l2	T	A	3: 95,047,672 (GRCm39)	I64F	possibly damaging	Het
Trbv13-1	A	G	6: 41,093,372 (GRCm39)	T102A	probably damaging	Het
Trpa1	A	T	1: 14,976,222 (GRCm39)	N160K	probably damaging	Het
Ttc22	A	G	4: 106,496,435 (GRCm39)	Y495C	probably benign	Het
Usp50	A	G	2: 126,619,949 (GRCm39)	I121T	probably damaging	Het
Vmn2r117	A	G	17: 23,678,885 (GRCm39)	S780P	probably damaging	Het
Vmn2r66	A	T	7: 84,644,607 (GRCm39)	V601D	probably damaging	Het
Wapl	G	A	14: 34,413,734 (GRCm39)	A199T	probably benign	Het
Zfp658	A	G	7: 43,222,969 (GRCm39)	T415A	possibly damaging	Het
Zfp760	C	T	17: 21,939,935 (GRCm39)	T9I	probably damaging	Het
Zfp998	A	G	13: 66,581,495 (GRCm39)	S59P	probably damaging	Het

Other mutations in Cox4i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Cox4i1	APN	8	121,399,604 (GRCm39)	missense	probably benign	0.15
R1174:Cox4i1	UTSW	8	121,400,789 (GRCm39)	missense	probably benign	0.41
R1276:Cox4i1	UTSW	8	121,400,089 (GRCm39)	missense	probably damaging	1.00
R2507:Cox4i1	UTSW	8	121,400,029 (GRCm39)	missense	possibly damaging	0.95
R2508:Cox4i1	UTSW	8	121,400,029 (GRCm39)	missense	possibly damaging	0.95
R6523:Cox4i1	UTSW	8	121,399,480 (GRCm39)	missense	probably benign	0.13
R6747:Cox4i1	UTSW	8	121,399,969 (GRCm39)	missense	possibly damaging	0.95
R7429:Cox4i1	UTSW	8	121,400,770 (GRCm39)	missense	probably damaging	1.00
R7430:Cox4i1	UTSW	8	121,400,770 (GRCm39)	missense	probably damaging	1.00
R7750:Cox4i1	UTSW	8	121,400,049 (GRCm39)	missense	probably benign	0.01
R8086:Cox4i1	UTSW	8	121,400,779 (GRCm39)	missense	probably damaging	1.00
R8709:Cox4i1	UTSW	8	121,396,110 (GRCm39)	missense	possibly damaging	0.95
R9028:Cox4i1	UTSW	8	121,398,022 (GRCm39)	unclassified	probably benign
Z1177:Cox4i1	UTSW	8	121,395,019 (GRCm39)	unclassified	probably benign

Predicted Primers

Posted On

2017-05-15