Mutagenetix > Incidental Mutation

Incidental Mutation 'R0122:Cox15'

21136

Institutional Source

Beutler Lab

Gene Symbol

Cox15

Ensembl Gene

ENSMUSG00000040018

Gene Name

cytochrome c oxidase assembly protein 15

Synonyms

2900026G05Rik

MMRRC Submission

038407-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0122 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

43721693-43741439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43737229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 135 (I135T)

Ref Sequence

ENSEMBL: ENSMUSP00000041820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026199] [ENSMUST00000045562] [ENSMUST00000112047] [ENSMUST00000153295]

AlphaFold

Q8BJ03

Predicted Effect

probably benign
Transcript: ENSMUST00000026199

SMART Domains

Protein: ENSMUSP00000026199
Gene: ENSMUSG00000025193

Domain	Start	End	E-Value	Type
Pfam:CutC	25	216	1.1e-71	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045562
AA Change: I135T

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041820
Gene: ENSMUSG00000040018
AA Change: I135T

Domain	Start	End	E-Value	Type
Pfam:COX15-CtaA	73	402	2.3e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112047

SMART Domains

Protein: ENSMUSP00000107678
Gene: ENSMUSG00000025193

Domain	Start	End	E-Value	Type
Pfam:CutC	25	226	7.8e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153295

SMART Domains

Protein: ENSMUSP00000118906
Gene: ENSMUSG00000025193

Domain	Start	End	E-Value	Type
Pfam:CutC	23	224	7.7e-82	PFAM

Meta Mutation Damage Score

0.1089

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Adam12	T	A	7: 133,614,077 (GRCm39)	I60F	probably benign	Het
Adamts10	A	G	17: 33,747,454 (GRCm39)		probably benign	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Adamts7	A	G	9: 90,061,474 (GRCm39)	E360G	probably damaging	Het
Atn1	A	T	6: 124,720,197 (GRCm39)		probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Baz2b	G	T	2: 59,743,963 (GRCm39)		probably null	Het
Bloc1s6	G	C	2: 122,587,963 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qa	T	A	4: 136,625,142 (GRCm39)	T3S	probably benign	Het
Cacna1e	A	T	1: 154,319,647 (GRCm39)	F1351Y	probably damaging	Het
Car9	C	T	4: 43,512,206 (GRCm39)	A356V	probably benign	Het
Ccdc116	T	A	16: 16,960,598 (GRCm39)	D73V	probably damaging	Het
Ces2g	T	C	8: 105,694,932 (GRCm39)	Y518H	probably damaging	Het
Ciz1	A	G	2: 32,261,431 (GRCm39)		probably benign	Het
Cmc1	A	T	9: 117,894,388 (GRCm39)	C29S	probably damaging	Het
Coil	T	A	11: 88,875,833 (GRCm39)		probably benign	Het
Col3a1	C	T	1: 45,380,057 (GRCm39)		probably benign	Het
Cyld	T	C	8: 89,468,920 (GRCm39)	S564P	probably damaging	Het
Dnah5	T	A	15: 28,378,509 (GRCm39)	N2948K	probably damaging	Het
Dnah7a	G	A	1: 53,436,301 (GRCm39)	R4014W	probably damaging	Het
Dnmt3b	T	C	2: 153,518,618 (GRCm39)	Y594H	probably damaging	Het
Dntt	A	G	19: 41,041,477 (GRCm39)	K387R	possibly damaging	Het
Efcab7	G	A	4: 99,749,560 (GRCm39)		probably benign	Het
Flvcr1	G	T	1: 190,753,423 (GRCm39)	P250T	possibly damaging	Het
Gga2	C	A	7: 121,590,797 (GRCm39)	V504L	probably damaging	Het
Gm12239	T	A	11: 55,906,738 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,578,890 (GRCm39)		noncoding transcript	Het
Krt26	G	T	11: 99,224,545 (GRCm39)	Y324*	probably null	Het
Lamb2	A	T	9: 108,363,713 (GRCm39)	H939L	probably benign	Het
Lipo3	C	T	19: 33,600,086 (GRCm39)		probably benign	Het
Mmp1b	G	A	9: 7,386,689 (GRCm39)	T145M	probably damaging	Het
Mrps27	G	T	13: 99,501,736 (GRCm39)	V76L	probably benign	Het
Mup6	T	A	4: 60,003,995 (GRCm39)	Y29*	probably null	Het
Nlrc3	T	C	16: 3,776,822 (GRCm39)	K756E	probably damaging	Het
Nnt	T	C	13: 119,505,133 (GRCm39)	H527R	probably damaging	Het
Nudt8	T	C	19: 4,051,306 (GRCm39)	V59A	probably benign	Het
Ofcc1	A	T	13: 40,434,032 (GRCm39)		probably null	Het
Or10d1	A	T	9: 39,484,020 (GRCm39)	D178E	probably damaging	Het
Or2a25	T	C	6: 42,888,889 (GRCm39)	V144A	probably benign	Het
Or51q1c	T	C	7: 103,652,565 (GRCm39)	W28R	probably damaging	Het
Pdgfd	T	C	9: 6,293,851 (GRCm39)	S142P	probably damaging	Het
Pias4	G	T	10: 80,992,921 (GRCm39)	Q22K	probably damaging	Het
Pin1	T	C	9: 20,573,600 (GRCm39)	I95T	probably benign	Het
Pramel23	A	T	4: 143,424,974 (GRCm39)	D156E	probably benign	Het
Prickle2	G	A	6: 92,388,326 (GRCm39)	Q359*	probably null	Het
Qrich2	G	T	11: 116,337,639 (GRCm39)	Q1950K	possibly damaging	Het
Rab10	C	A	12: 3,359,357 (GRCm39)	G21V	probably damaging	Het
Rbm27	T	A	18: 42,447,033 (GRCm39)		probably benign	Het
Samd4	C	A	14: 47,254,017 (GRCm39)	S160R	probably benign	Het
Scube3	A	C	17: 28,385,502 (GRCm39)		probably benign	Het
Serpinf2	A	G	11: 75,327,372 (GRCm39)	L185P	probably damaging	Het
Slc16a12	A	G	19: 34,652,264 (GRCm39)	I294T	probably benign	Het
Slc45a3	T	A	1: 131,905,478 (GRCm39)	M167K	probably damaging	Het
Sspo	T	A	6: 48,450,910 (GRCm39)	L2673Q	possibly damaging	Het
Supt3	A	G	17: 45,314,028 (GRCm39)	D139G	probably damaging	Het
Tas1r3	T	C	4: 155,945,290 (GRCm39)	M644V	probably benign	Het
Tgfbi	A	G	13: 56,775,781 (GRCm39)	T276A	probably damaging	Het
Tmem177	T	C	1: 119,838,308 (GRCm39)	I124V	probably benign	Het
Tmprss11f	G	T	5: 86,681,484 (GRCm39)		probably benign	Het
Tmprss3	G	A	17: 31,412,876 (GRCm39)		probably benign	Het
Twf1	A	G	15: 94,484,430 (GRCm39)		probably benign	Het
Uba52	T	A	8: 70,961,951 (GRCm39)	Q166L	probably damaging	Het
Ubr3	G	T	2: 69,809,756 (GRCm39)	G1242V	probably damaging	Het
Unc13d	C	T	11: 115,956,308 (GRCm39)	S835N	probably benign	Het
Ush2a	A	G	1: 188,680,652 (GRCm39)	K4877E	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,662 (GRCm39)	I387V	probably benign	Het
Vps11	A	T	9: 44,265,809 (GRCm39)	I490N	probably damaging	Het
Vstm4	T	A	14: 32,585,768 (GRCm39)		probably null	Het
Zfp110	C	A	7: 12,582,524 (GRCm39)	H391N	possibly damaging	Het
Zfp212	C	T	6: 47,907,957 (GRCm39)	P312L	possibly damaging	Het
Zfp329	A	T	7: 12,544,914 (GRCm39)	H203Q	probably damaging	Het
Zscan12	G	A	13: 21,553,139 (GRCm39)	G321E	probably damaging	Het

Other mutations in Cox15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Cox15	APN	19	43,732,104 (GRCm39)	nonsense	probably null
R1452:Cox15	UTSW	19	43,735,344 (GRCm39)	missense	probably damaging	1.00
R1931:Cox15	UTSW	19	43,735,224 (GRCm39)	missense	probably benign	0.01
R1932:Cox15	UTSW	19	43,735,224 (GRCm39)	missense	probably benign	0.01
R6268:Cox15	UTSW	19	43,728,365 (GRCm39)	missense	possibly damaging	0.88
R6720:Cox15	UTSW	19	43,725,228 (GRCm39)	missense	probably damaging	1.00
R7141:Cox15	UTSW	19	43,725,186 (GRCm39)	missense	probably benign	0.05
R7743:Cox15	UTSW	19	43,728,380 (GRCm39)	missense	possibly damaging	0.94
R8545:Cox15	UTSW	19	43,728,421 (GRCm39)	missense	probably damaging	1.00
R8698:Cox15	UTSW	19	43,739,948 (GRCm39)	missense	probably benign
R8725:Cox15	UTSW	19	43,735,181 (GRCm39)	nonsense	probably null
R8727:Cox15	UTSW	19	43,735,181 (GRCm39)	nonsense	probably null
R8941:Cox15	UTSW	19	43,732,172 (GRCm39)	missense	probably benign	0.01
R9650:Cox15	UTSW	19	43,735,318 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TTAGACTGCCCTGCGTTTAGGCTC -3'
(R):5'- TCGGGAGAACCTGGATTCCACATC -3'

Sequencing Primer
(F):5'- aacaaccctcccctctcc -3'
(R):5'- TCACACCCATGAGTTAAGTTCGG -3'

Posted On

2013-04-11