Mutagenetix > Incidental Mutation

Incidental Mutation 'R6523:Cox4i1'

521504

Institutional Source

Beutler Lab

Gene Symbol

Cox4i1

Ensembl Gene

ENSMUSG00000031818

Gene Name

cytochrome c oxidase subunit 4I1

Synonyms

COXIV, Cox4a, Cox4

MMRRC Submission

044649-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121394964-121400948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121399480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 30 (S30R)

Ref Sequence

ENSEMBL: ENSMUSP00000138019 (fasta)

Gene Model

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

AlphaFold

P19783

Predicted Effect

probably benign
Transcript: ENSMUST00000034276
AA Change: S30R

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034276
Gene: ENSMUSG00000031818
AA Change: S30R

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: ENSMUST00000181586
AA Change: S30R

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138019
Gene: ENSMUSG00000031818
AA Change: S30R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181172

Predicted Effect

probably benign
Transcript: ENSMUST00000181836

Predicted Effect

probably benign
Transcript: ENSMUST00000181111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181402

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

Predicted Effect

probably benign
Transcript: ENSMUST00000181847

SMART Domains

Protein: ENSMUSP00000138053
Gene: ENSMUSG00000031818

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

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

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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,160,120 (GRCm39)		probably null	Het
Alg2	A	T	4: 47,472,071 (GRCm39)	S246T	possibly damaging	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Arid4a	A	G	12: 71,114,115 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,762,553 (GRCm39)		probably null	Het
B430306N03Rik	A	G	17: 48,626,193 (GRCm39)	T129A	possibly damaging	Het
Blvrb	C	A	7: 27,165,142 (GRCm39)		probably null	Het
Ccdc175	T	C	12: 72,191,565 (GRCm39)	N337S	probably benign	Het
Ccdc28b	A	C	4: 129,514,780 (GRCm39)	F110V	probably damaging	Het
Cd200	A	G	16: 45,220,633 (GRCm39)	Y16H	probably benign	Het
Cfh	T	G	1: 140,029,445 (GRCm39)	E950A	possibly damaging	Het
Clec3a	A	T	8: 115,152,345 (GRCm39)	Y117F	probably damaging	Het
CN725425	A	G	15: 91,115,784 (GRCm39)	S9G	probably benign	Het
Coasy	T	A	11: 100,976,944 (GRCm39)	W535R	probably damaging	Het
Csnk1a1	G	A	18: 61,688,829 (GRCm39)	S3N	probably benign	Het
Dcst2	C	G	3: 89,280,808 (GRCm39)	L669V	probably benign	Het
Dnah14	A	G	1: 181,471,186 (GRCm39)	I1346V	probably benign	Het
Fbxw24	G	A	9: 109,434,048 (GRCm39)	R421*	probably null	Het
Fstl5	G	A	3: 76,443,641 (GRCm39)	V329I	probably benign	Het
Gli3	T	C	13: 15,888,235 (GRCm39)		probably null	Het
Gna11	A	T	10: 81,380,688 (GRCm39)	I25N	probably damaging	Het
Greb1	C	T	12: 16,734,374 (GRCm39)	V1539I	possibly damaging	Het
Hipk3	T	A	2: 104,269,753 (GRCm39)	T479S	possibly damaging	Het
Hspa1b	A	G	17: 35,176,167 (GRCm39)	I606T	probably benign	Het
Idnk	T	A	13: 58,311,457 (GRCm39)	F141L	probably damaging	Het
Ifit3	A	G	19: 34,565,555 (GRCm39)	N367S	probably benign	Het
Kcnn1	A	T	8: 71,299,169 (GRCm39)	D448E	possibly damaging	Het
Krt14	T	C	11: 100,095,923 (GRCm39)	T212A	possibly damaging	Het
Ldlr	G	A	9: 21,648,549 (GRCm39)	C285Y	probably damaging	Het
Mark3	G	A	12: 111,593,669 (GRCm39)	V234I	probably damaging	Het
Meikin	T	A	11: 54,289,327 (GRCm39)	Y233*	probably null	Het
Mtcl2	G	A	2: 156,902,263 (GRCm39)	Q251*	probably null	Het
Muc20	T	C	16: 32,613,820 (GRCm39)	D519G	possibly damaging	Het
Nalcn	T	A	14: 123,555,255 (GRCm39)	H876L	probably benign	Het
Ncaph	A	T	2: 126,947,809 (GRCm39)	I698K	probably damaging	Het
Nipal1	A	T	5: 72,824,951 (GRCm39)	I215F	probably damaging	Het
Nrde2	A	T	12: 100,100,664 (GRCm39)	D607E	possibly damaging	Het
Nt5dc2	T	C	14: 30,857,662 (GRCm39)	F217S	probably damaging	Het
Ntsr2	T	A	12: 16,706,697 (GRCm39)	S156T	probably benign	Het
Or13c9	A	T	4: 52,935,500 (GRCm39)	I261N	probably damaging	Het
Or5b110-ps1	A	C	19: 13,259,728 (GRCm39)	D231E	probably benign	Het
Or5p4	A	C	7: 107,680,762 (GRCm39)	T254P	probably benign	Het
Pfas	A	T	11: 68,881,283 (GRCm39)	I1028K	probably benign	Het
Pnpla5	C	A	15: 83,999,912 (GRCm39)	R329L	possibly damaging	Het
Pramel30	T	C	4: 144,058,218 (GRCm39)	V275A	probably benign	Het
Rhot2	A	G	17: 26,058,394 (GRCm39)	V393A	possibly damaging	Het
Rigi	T	A	4: 40,205,947 (GRCm39)	T882S	probably benign	Het
Rnase9	T	A	14: 51,276,684 (GRCm39)	Y98F	possibly damaging	Het
Sacs	C	A	14: 61,440,410 (GRCm39)	L819I	probably damaging	Het
Sall3	C	T	18: 81,016,403 (GRCm39)	M508I	possibly damaging	Het
Scube3	G	A	17: 28,381,362 (GRCm39)	C301Y	probably damaging	Het
Sgo2b	G	T	8: 64,380,538 (GRCm39)	H765N	probably benign	Het
Sh3gl1	A	T	17: 56,324,617 (GRCm39)	Y344N	possibly damaging	Het
Slc15a2	A	G	16: 36,572,683 (GRCm39)	V635A	probably benign	Het
Slc1a4	T	A	11: 20,282,114 (GRCm39)	Y40F	probably damaging	Het
Slc4a10	A	T	2: 62,117,305 (GRCm39)	K755*	probably null	Het
Slco1a5	C	T	6: 142,212,121 (GRCm39)	G38R	probably damaging	Het
Snx25	T	A	8: 46,508,892 (GRCm39)	D564V	probably damaging	Het
Spon1	T	A	7: 113,486,018 (GRCm39)	D189E	probably benign	Het
Sptbn5	T	C	2: 119,896,095 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,841,170 (GRCm39)	I317V	probably benign	Het
Stil	AAGATTTCCAG	A	4: 114,889,911 (GRCm39)		probably null	Het
Strn3	A	T	12: 51,689,881 (GRCm39)		probably null	Het
Tcaf2	A	T	6: 42,619,953 (GRCm39)	F25I	probably benign	Het
Themis	C	T	10: 28,657,894 (GRCm39)	T154I	possibly damaging	Het
Ttn	T	C	2: 76,626,390 (GRCm39)	R13176G	probably damaging	Het
Utp4	G	A	8: 107,625,095 (GRCm39)	V125M	probably damaging	Het
Vmn1r119	T	A	7: 20,745,777 (GRCm39)	M202L	possibly damaging	Het
Zfp292	G	C	4: 34,816,301 (GRCm39)	F329L	probably benign	Het
Zfp541	C	T	7: 15,829,445 (GRCm39)	P1281L	probably damaging	Het
Zfp616	A	T	11: 73,973,968 (GRCm39)	Q79L	possibly 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
R2698:Cox4i1	UTSW	8	121,396,102 (GRCm39)	unclassified	probably benign
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

PCR Primer
(F):5'- TCTGAGTATGAGACCCTGCG -3'
(R):5'- ACTACTGAGTGTTTGTGCACC -3'

Sequencing Primer
(F):5'- GGGTCTCCATTTAGTCCAGTTGC -3'
(R):5'- GAGTGTTTGTGCACCCCCTC -3'

Posted On

2018-06-06