Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Cox4i1'

282093

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cox4i1

Ensembl Gene

ENSMUSG00000031818

Gene Name

cytochrome c oxidase subunit 4I1

Synonyms

COXIV, Cox4a, Cox4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

121394964-121400948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121399604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 72 (S72G)

Ref Sequence

ENSEMBL: ENSMUSP00000138019 (fasta)

Gene Model

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

AlphaFold

P19783

Predicted Effect

probably benign
Transcript: ENSMUST00000034276
AA Change: S72G

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034276
Gene: ENSMUSG00000031818
AA Change: S72G

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
AA Change: S19G

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138063
Gene: ENSMUSG00000031818
AA Change: S19G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000181586
AA Change: S72G

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138019
Gene: ENSMUSG00000031818
AA Change: S72G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181402

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: 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

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

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,695,983 (GRCm39)	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,460,991 (GRCm39)	Y289H	possibly damaging	Het
Adamts17	T	A	7: 66,774,748 (GRCm39)	S956T	probably benign	Het
Adamts6	A	T	13: 104,450,168 (GRCm39)	S290C	probably null	Het
Apaf1	A	T	10: 90,897,681 (GRCm39)	H267Q	probably benign	Het
Aplp2	G	A	9: 31,122,947 (GRCm39)	P26L	unknown	Het
Arid1b	C	T	17: 5,364,243 (GRCm39)	S1019F	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Ass1	T	C	2: 31,382,336 (GRCm39)	I169T	probably damaging	Het
Ccser1	A	G	6: 61,288,692 (GRCm39)	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,381,209 (GRCm39)	V2737A	probably benign	Het
Chrm5	A	G	2: 112,310,913 (GRCm39)	Y68H	probably damaging	Het
Cops4	A	G	5: 100,681,456 (GRCm39)	T164A	probably benign	Het
Cpox	A	G	16: 58,494,787 (GRCm39)	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,891,281 (GRCm39)	I68T	probably benign	Het
Efna5	T	C	17: 62,958,055 (GRCm39)	D67G	probably benign	Het
Enpp3	T	C	10: 24,649,900 (GRCm39)	E842G	probably damaging	Het
Fam210b	A	G	2: 172,193,423 (GRCm39)	K79E	probably benign	Het
Gm4799	T	C	10: 82,790,589 (GRCm39)		noncoding transcript	Het
Gpr146	A	T	5: 139,378,467 (GRCm39)	R90W	probably damaging	Het
H2ac10	A	G	13: 23,718,451 (GRCm39)	H124R	probably benign	Het
Hal	A	G	10: 93,339,404 (GRCm39)	I498V	possibly damaging	Het
Hnrnpm	C	T	17: 33,877,386 (GRCm39)	G365R	probably damaging	Het
Jakmip3	A	G	7: 138,627,217 (GRCm39)	D407G	probably damaging	Het
Kank1	A	G	19: 25,405,536 (GRCm39)	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 110,916,036 (GRCm39)	M233L	probably benign	Het
Klhl5	A	T	5: 65,306,143 (GRCm39)	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Las1l	A	G	X: 94,996,908 (GRCm39)	V130A	probably damaging	Het
Liat1	A	G	11: 75,894,051 (GRCm39)	I143V	probably benign	Het
Lrp2bp	A	T	8: 46,476,081 (GRCm39)	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,356,917 (GRCm39)	K285M	probably damaging	Het
Mpp3	A	T	11: 101,916,216 (GRCm39)	Y45*	probably null	Het
Muc4	T	A	16: 32,598,023 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,353,914 (GRCm39)	C837R	possibly damaging	Het
Nr2f6	T	A	8: 71,828,810 (GRCm39)	I155F	probably damaging	Het
Nsg1	A	G	5: 38,302,145 (GRCm39)	F50L	probably benign	Het
Or14a258	T	A	7: 86,035,251 (GRCm39)	M206L	probably benign	Het
Ostf1	C	A	19: 18,567,822 (GRCm39)	G101C	probably damaging	Het
Pam	C	T	1: 97,768,474 (GRCm39)	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 110,395,924 (GRCm39)	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,487,149 (GRCm39)	H484L	probably benign	Het
Pwwp3a	A	G	10: 80,075,812 (GRCm39)	D466G	probably damaging	Het
Rfx5	G	A	3: 94,864,493 (GRCm39)	R213Q	probably damaging	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,552,971 (GRCm39)	S73P	probably damaging	Het
Sec22c	G	A	9: 121,513,845 (GRCm39)	A264V	probably benign	Het
Sis	A	C	3: 72,796,319 (GRCm39)		probably benign	Het
Spam1	T	A	6: 24,800,802 (GRCm39)		probably benign	Het
Spmip2	T	C	3: 79,252,839 (GRCm39)	I18T	possibly damaging	Het
St13	T	A	15: 81,250,583 (GRCm39)	I318F	probably damaging	Het
Syne1	T	C	10: 5,374,382 (GRCm39)	I142V	probably damaging	Het
Tasor2	C	T	13: 3,635,371 (GRCm39)	E479K	probably benign	Het
Trpm6	A	T	19: 18,809,903 (GRCm39)	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,026,366 (GRCm39)	W90*	probably null	Het
Txndc12	T	A	4: 108,691,989 (GRCm39)	C9*	probably null	Het
Ubr7	C	T	12: 102,734,535 (GRCm39)	Q270*	probably null	Het
Vps33b	A	G	7: 79,934,817 (GRCm39)	S302G	probably benign	Het
Xylt1	T	A	7: 117,233,997 (GRCm39)	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,326,703 (GRCm39)	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,379,702 (GRCm39)		probably benign	Het
Zscan18	A	T	7: 12,509,223 (GRCm39)		probably benign	Het

Other mutations in Cox4i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16