Mutagenetix > Incidental Mutation

Incidental Mutation 'R6457:Cox18'

516521

Institutional Source

Beutler Lab

Gene Symbol

Cox18

Ensembl Gene

ENSMUSG00000035505

Gene Name

cytochrome c oxidase assembly protein 18

Synonyms

MMRRC Submission

044592-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.418) question?

Stock #

R6457 (G1)

Quality Score

85.0076

Status

Not validated

Chromosome

Chromosomal Location

90362583-90371860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90371548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 84 (I84T)

Ref Sequence

ENSEMBL: ENSMUSP00000116430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014421] [ENSMUST00000048363] [ENSMUST00000081914] [ENSMUST00000118816] [ENSMUST00000148480] [ENSMUST00000168058]

AlphaFold

Q8VC74

Predicted Effect

probably benign
Transcript: ENSMUST00000014421

SMART Domains

Protein: ENSMUSP00000014421
Gene: ENSMUSG00000055204

Domain	Start	End	E-Value	Type
low complexity region	6	40	N/A	INTRINSIC
low complexity region	55	71	N/A	INTRINSIC
low complexity region	82	130	N/A	INTRINSIC
ANK	229	258	8.62e1	SMART
ANK	262	291	3.31e-1	SMART
ANK	296	325	3.51e-5	SMART
ANK	329	358	1.33e-5	SMART
ANK	362	391	3.46e-4	SMART
ANK	396	425	3.23e-4	SMART
ANK	429	458	1.61e-4	SMART
ANK	462	491	1.46e-2	SMART
ANK	495	524	3.88e-7	SMART
ANK	529	558	4.19e-3	SMART
ANK	559	588	1.76e-5	SMART
ANK	592	621	3.51e-5	SMART
ANK	625	654	5.62e-4	SMART
ANK	659	688	1.29e-3	SMART
ANK	692	721	1.44e-1	SMART
coiled coil region	800	883	N/A	INTRINSIC
low complexity region	890	903	N/A	INTRINSIC
low complexity region	955	968	N/A	INTRINSIC
low complexity region	986	997	N/A	INTRINSIC
low complexity region	1046	1060	N/A	INTRINSIC
ANK	1078	1107	2.13e-4	SMART
ANK	1111	1140	8.19e-6	SMART
ANK	1145	1174	1.68e-2	SMART
ANK	1178	1207	1.61e-4	SMART
ANK	1213	1242	1.43e-5	SMART
ANK	1247	1276	1.83e-3	SMART
ANK	1280	1309	3.91e-3	SMART
ANK	1315	1344	1.93e-2	SMART
ANK	1348	1377	8.78e-6	SMART
ANK	1381	1410	7.59e-1	SMART
coiled coil region	1454	1522	N/A	INTRINSIC
low complexity region	1597	1611	N/A	INTRINSIC
low complexity region	1616	1636	N/A	INTRINSIC
KH	1720	1790	8.31e-14	SMART
low complexity region	1816	1827	N/A	INTRINSIC
low complexity region	1834	1850	N/A	INTRINSIC
low complexity region	1946	1989	N/A	INTRINSIC
low complexity region	1996	2024	N/A	INTRINSIC
low complexity region	2035	2052	N/A	INTRINSIC
low complexity region	2068	2077	N/A	INTRINSIC
low complexity region	2086	2110	N/A	INTRINSIC
low complexity region	2175	2189	N/A	INTRINSIC
low complexity region	2348	2365	N/A	INTRINSIC
low complexity region	2392	2411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048363
AA Change: I84T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044144
Gene: ENSMUSG00000035505
AA Change: I84T

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
low complexity region	32	51	N/A	INTRINSIC
Pfam:60KD_IMP	78	298	1.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081914

SMART Domains

Protein: ENSMUSP00000080587
Gene: ENSMUSG00000055204

Domain	Start	End	E-Value	Type
low complexity region	6	40	N/A	INTRINSIC
low complexity region	55	71	N/A	INTRINSIC
low complexity region	82	130	N/A	INTRINSIC
ANK	229	258	8.62e1	SMART
ANK	262	291	3.31e-1	SMART
ANK	296	325	3.51e-5	SMART
ANK	329	358	1.33e-5	SMART
ANK	362	391	3.46e-4	SMART
ANK	396	425	3.23e-4	SMART
ANK	429	458	1.61e-4	SMART
ANK	462	491	1.46e-2	SMART
ANK	495	524	3.88e-7	SMART
ANK	529	558	4.19e-3	SMART
ANK	559	588	1.76e-5	SMART
ANK	592	621	3.51e-5	SMART
ANK	625	654	5.62e-4	SMART
ANK	659	688	1.29e-3	SMART
ANK	692	721	1.44e-1	SMART
low complexity region	795	809	N/A	INTRINSIC
ANK	827	856	2.13e-4	SMART
ANK	860	889	8.19e-6	SMART
ANK	894	923	1.68e-2	SMART
ANK	927	956	1.61e-4	SMART
ANK	962	991	1.43e-5	SMART
ANK	996	1025	1.83e-3	SMART
ANK	1029	1058	3.91e-3	SMART
ANK	1064	1093	1.93e-2	SMART
ANK	1097	1126	8.78e-6	SMART
ANK	1130	1159	7.59e-1	SMART
coiled coil region	1203	1271	N/A	INTRINSIC
low complexity region	1346	1360	N/A	INTRINSIC
low complexity region	1365	1385	N/A	INTRINSIC
KH	1469	1539	8.31e-14	SMART
low complexity region	1565	1576	N/A	INTRINSIC
low complexity region	1583	1599	N/A	INTRINSIC
low complexity region	1695	1738	N/A	INTRINSIC
low complexity region	1745	1773	N/A	INTRINSIC
low complexity region	1784	1801	N/A	INTRINSIC
low complexity region	1817	1826	N/A	INTRINSIC
low complexity region	1835	1859	N/A	INTRINSIC
low complexity region	1924	1938	N/A	INTRINSIC
low complexity region	2097	2114	N/A	INTRINSIC
low complexity region	2141	2160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118816
AA Change: I84T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113353
Gene: ENSMUSG00000035505
AA Change: I84T

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
low complexity region	32	51	N/A	INTRINSIC
Pfam:60KD_IMP	79	296	5.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131068

Predicted Effect

probably benign
Transcript: ENSMUST00000148480
AA Change: I84T

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116430
Gene: ENSMUSG00000035505
AA Change: I84T

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
low complexity region	32	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168058

SMART Domains

Protein: ENSMUSP00000128960
Gene: ENSMUSG00000055204

Domain	Start	End	E-Value	Type
low complexity region	6	40	N/A	INTRINSIC
low complexity region	55	71	N/A	INTRINSIC
low complexity region	82	130	N/A	INTRINSIC
ANK	229	258	8.62e1	SMART
ANK	262	291	3.31e-1	SMART
ANK	296	325	3.51e-5	SMART
ANK	329	358	1.33e-5	SMART
ANK	362	391	3.46e-4	SMART
ANK	396	425	3.23e-4	SMART
ANK	429	458	1.61e-4	SMART
ANK	462	491	1.46e-2	SMART
ANK	495	524	3.88e-7	SMART
ANK	529	558	4.19e-3	SMART
ANK	559	588	1.76e-5	SMART
ANK	592	621	3.51e-5	SMART
ANK	625	654	5.62e-4	SMART
ANK	659	688	1.29e-3	SMART
ANK	692	721	1.44e-1	SMART
coiled coil region	800	883	N/A	INTRINSIC
low complexity region	890	903	N/A	INTRINSIC
low complexity region	955	968	N/A	INTRINSIC
low complexity region	986	997	N/A	INTRINSIC
low complexity region	1046	1060	N/A	INTRINSIC
ANK	1078	1107	2.13e-4	SMART
ANK	1111	1140	8.19e-6	SMART
ANK	1145	1174	1.68e-2	SMART
ANK	1178	1207	1.61e-4	SMART
ANK	1213	1242	1.43e-5	SMART
ANK	1247	1276	1.83e-3	SMART
ANK	1280	1309	3.91e-3	SMART
ANK	1315	1344	1.93e-2	SMART
ANK	1348	1377	8.78e-6	SMART
ANK	1381	1410	7.59e-1	SMART
coiled coil region	1454	1522	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196919

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,383 (GRCm39)	V524E	probably damaging	Het
Acer2	T	A	4: 86,818,808 (GRCm39)	M152K	probably damaging	Het
Actn3	T	C	19: 4,921,876 (GRCm39)	D130G	probably damaging	Het
Ank1	T	A	8: 23,577,983 (GRCm39)	F211Y	probably damaging	Het
Ankfn1	C	T	11: 89,282,670 (GRCm39)	A326T	probably benign	Het
Ankrd11	G	A	8: 123,635,503 (GRCm39)	R44C	probably damaging	Het
Ankrd46	A	G	15: 36,484,217 (GRCm39)		probably benign	Het
Aurkb	G	A	11: 68,939,172 (GRCm39)	E132K	possibly damaging	Het
Bsdc1	C	T	4: 129,359,069 (GRCm39)	T9I	possibly damaging	Het
Card14	C	T	11: 119,230,428 (GRCm39)	R767*	probably null	Het
Ccdc82	T	A	9: 13,272,745 (GRCm39)	F411L	possibly damaging	Het
Col12a1	C	T	9: 79,552,973 (GRCm39)	G2106D	probably damaging	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,855,198 (GRCm39)	L361P	probably damaging	Het
Dhrs3	T	C	4: 144,646,522 (GRCm39)	S125P	probably damaging	Het
Fbxl15	A	G	19: 46,317,765 (GRCm39)	H149R	probably benign	Het
Flg2	T	A	3: 93,127,789 (GRCm39)	S2234T	unknown	Het
Gtf2e1	A	C	16: 37,356,698 (GRCm39)		probably null	Het
H2-Q7	A	T	17: 35,658,655 (GRCm39)	S98C	probably damaging	Het
Hcn2	G	T	10: 79,569,607 (GRCm39)	E536*	probably null	Het
Kat6b	A	T	14: 21,720,748 (GRCm39)	H1700L	probably damaging	Het
Klhl3	C	T	13: 58,248,192 (GRCm39)	V35I	probably benign	Het
Krt34	A	T	11: 99,930,916 (GRCm39)	L162Q	probably damaging	Het
Ly9	A	G	1: 171,416,663 (GRCm39)	S644P	probably damaging	Het
Magi1	A	T	6: 93,676,620 (GRCm39)	V685E	probably damaging	Het
Malrd1	A	G	2: 15,531,408 (GRCm39)		probably benign	Het
Malrd1	A	T	2: 15,672,740 (GRCm39)	H599L	probably benign	Het
Matn2	T	A	15: 34,426,380 (GRCm39)	C631S	probably damaging	Het
Megf8	A	T	7: 25,049,120 (GRCm39)	D1739V	probably damaging	Het
Mlf1	G	A	3: 67,300,277 (GRCm39)	R98Q	probably benign	Het
Mprip	T	A	11: 59,649,815 (GRCm39)	I1173K	possibly damaging	Het
Mrc1	A	G	2: 14,275,016 (GRCm39)	D439G	probably damaging	Het
Mroh5	A	T	15: 73,662,691 (GRCm39)	W208R	probably damaging	Het
Ms4a5	T	G	19: 11,256,646 (GRCm39)	I84L	probably benign	Het
Myt1	G	A	2: 181,405,218 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,907,990 (GRCm39)	H1374L	probably damaging	Het
Nbeal1	T	A	1: 60,292,633 (GRCm39)	I1095K	probably benign	Het
Nolc1	A	G	19: 46,071,509 (GRCm39)		probably benign	Het
Nr5a2	A	G	1: 136,887,976 (GRCm39)	L18P	probably benign	Het
Nup188	G	T	2: 30,212,199 (GRCm39)	C562F	probably damaging	Het
Obscn	A	G	11: 58,971,597 (GRCm39)	V2415A	probably damaging	Het
Pacsin2	A	T	15: 83,263,879 (GRCm39)		probably null	Het
Pias3	A	G	3: 96,606,839 (GRCm39)	H34R	possibly damaging	Het
Ppfia2	T	C	10: 106,729,361 (GRCm39)	V903A	probably damaging	Het
Pramel1	T	A	4: 143,123,275 (GRCm39)	L84Q	probably damaging	Het
Pramel6	G	A	2: 87,339,782 (GRCm39)	C182Y	probably damaging	Het
Prdm4	A	G	10: 85,743,896 (GRCm39)	Y120H	probably damaging	Het
Prss28	A	G	17: 25,530,331 (GRCm39)	M212V	probably benign	Het
Rbp3	G	T	14: 33,677,224 (GRCm39)	G391*	probably null	Het
Rc3h2	C	T	2: 37,301,151 (GRCm39)		probably null	Het
Ret	A	G	6: 118,150,582 (GRCm39)	F645L	probably benign	Het
Saxo5	T	C	8: 3,529,268 (GRCm39)	L251P	probably damaging	Het
Sgsm2	A	G	11: 74,755,995 (GRCm39)	S402P	possibly damaging	Het
Shc3	T	A	13: 51,636,915 (GRCm39)		probably null	Het
Slc25a16	A	G	10: 62,776,938 (GRCm39)	N246S	probably benign	Het
Snrpd1	T	A	18: 10,623,694 (GRCm39)	H26Q	probably benign	Het
Thsd1	A	G	8: 22,733,363 (GRCm39)	T137A	probably damaging	Het
Tnik	A	T	3: 28,593,597 (GRCm39)	H151L	probably damaging	Het
Tns1	T	A	1: 73,957,209 (GRCm39)	K1725N	probably damaging	Het
Tomm40l	T	A	1: 171,048,161 (GRCm39)	T147S	probably damaging	Het
Tomm6	G	T	17: 47,998,932 (GRCm39)		probably benign	Het
Trp53	G	A	11: 69,480,440 (GRCm39)	C272Y	probably damaging	Het
Trpm7	A	T	2: 126,649,214 (GRCm39)	V1492E	probably benign	Het
Tsen2	G	A	6: 115,536,592 (GRCm39)	R116H	probably benign	Het
Uvrag	A	G	7: 98,555,726 (GRCm39)	F456S	probably damaging	Het
Vmn1r86	A	T	7: 12,836,279 (GRCm39)	M199K	possibly damaging	Het
Vmn2r4	C	T	3: 64,317,378 (GRCm39)	C120Y	probably damaging	Het

Other mutations in Cox18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Cox18	APN	5	90,365,447 (GRCm39)	nonsense	probably null
IGL02260:Cox18	APN	5	90,365,384 (GRCm39)	missense	possibly damaging	0.94
PIT4585001:Cox18	UTSW	5	90,365,434 (GRCm39)	missense	possibly damaging	0.69
R0399:Cox18	UTSW	5	90,362,887 (GRCm39)	missense	probably benign	0.00
R7309:Cox18	UTSW	5	90,362,917 (GRCm39)	missense	possibly damaging	0.95
R8006:Cox18	UTSW	5	90,371,672 (GRCm39)	missense	probably damaging	0.99
R8536:Cox18	UTSW	5	90,362,877 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTGGAAGGTACTCGAGTCAC -3'
(R):5'- CTCCGTGTAACCATGCTGTG -3'

Sequencing Primer
(F):5'- GGAAGGTACTCGAGTCACCAACC -3'
(R):5'- TAACCATGCTGTGCCGGTC -3'

Posted On

2018-05-21