Mutagenetix > Incidental Mutation

Incidental Mutation 'R4284:Cox16'

322005

Institutional Source

Beutler Lab

Gene Symbol

Cox16

Ensembl Gene

ENSMUSG00000091803

Gene Name

cytochrome c oxidase assembly protein 16

Synonyms

1810020G14Rik, 1810055I05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R4284 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81405800-81531901 bp(-) (GRCm39)

Type of Mutation

splice site (68 bp from exon)

DNA Base Change (assembly)

T to C at 81521293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002757] [ENSMUST00000002757] [ENSMUST00000110340] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000164386] [ENSMUST00000166664] [ENSMUST00000166664] [ENSMUST00000166723] [ENSMUST00000166723] [ENSMUST00000168463] [ENSMUST00000168463] [ENSMUST00000171459] [ENSMUST00000169124]

AlphaFold

Q9CR63

Predicted Effect

probably null
Transcript: ENSMUST00000002757

SMART Domains

Protein: ENSMUSP00000002757
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	88	1.8e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000002757

SMART Domains

Protein: ENSMUSP00000002757
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	88	1.8e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163282

Predicted Effect

probably null
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166664

SMART Domains

Protein: ENSMUSP00000131728
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166664

SMART Domains

Protein: ENSMUSP00000131728
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167819

Predicted Effect

probably null
Transcript: ENSMUST00000168463

SMART Domains

Protein: ENSMUSP00000127295
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	78	2e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000168463

SMART Domains

Protein: ENSMUSP00000127295
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	78	2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170958

Predicted Effect

probably benign
Transcript: ENSMUST00000169124

SMART Domains

Protein: ENSMUSP00000128281
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	69	3.2e-16	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	G	A	3: 116,545,827 (GRCm39)	S1323L	possibly damaging	Het
Capg	T	C	6: 72,538,082 (GRCm39)	Y323H	probably damaging	Het
Cdh23	T	C	10: 60,139,272 (GRCm39)	T3314A	possibly damaging	Het
Cilp	A	T	9: 65,185,560 (GRCm39)	T552S	probably damaging	Het
Ctu2	G	A	8: 123,204,978 (GRCm39)	V88I	probably benign	Het
Elfn1	A	T	5: 139,958,069 (GRCm39)	K358*	probably null	Het
Enpp6	T	C	8: 47,522,050 (GRCm39)	F328S	probably damaging	Het
Galnt12	T	C	4: 47,104,231 (GRCm39)	L163P	probably damaging	Het
Gcfc2	G	A	6: 81,918,372 (GRCm39)	R354H	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Ikbke	C	T	1: 131,203,515 (GRCm39)		probably null	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Jmjd6	T	C	11: 116,733,534 (GRCm39)	R48G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lilra6	T	C	7: 3,911,803 (GRCm39)	H285R	possibly damaging	Het
Lrp2	G	A	2: 69,310,438 (GRCm39)	R2712C	possibly damaging	Het
Magi3	C	A	3: 103,923,184 (GRCm39)	G1178*	probably null	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mug2	T	A	6: 122,040,632 (GRCm39)	D727E	probably benign	Het
Relch	A	G	1: 105,649,012 (GRCm39)	D717G	probably damaging	Het
Sema3c	A	G	5: 17,883,345 (GRCm39)	T318A	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc20a2	G	A	8: 23,051,365 (GRCm39)	R466Q	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Sox5	T	C	6: 143,781,055 (GRCm39)	K570E	probably damaging	Het
Ssbp1	T	G	6: 40,454,851 (GRCm39)		probably null	Het
Sult5a1	A	G	8: 123,875,969 (GRCm39)	S116P	probably damaging	Het
Tktl2	T	A	8: 66,965,808 (GRCm39)	D455E	probably damaging	Het
Tm9sf1	T	C	14: 55,878,780 (GRCm39)	Y204C	probably damaging	Het
Tmem161a	A	G	8: 70,630,076 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,623,211 (GRCm39)	K13663*	probably null	Het
Unc5c	T	C	3: 141,420,435 (GRCm39)	I52T	probably damaging	Het

Other mutations in Cox16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1332:Cox16	UTSW	12	81,519,064 (GRCm39)	missense	probably damaging	1.00
R1336:Cox16	UTSW	12	81,519,064 (GRCm39)	missense	probably damaging	1.00
R1489:Cox16	UTSW	12	81,521,389 (GRCm39)	missense	probably null	0.99
R4079:Cox16	UTSW	12	81,521,109 (GRCm39)	unclassified	probably benign
R5509:Cox16	UTSW	12	81,519,032 (GRCm39)	missense	probably benign	0.00
R5538:Cox16	UTSW	12	81,531,703 (GRCm39)	missense	possibly damaging	0.92
R6356:Cox16	UTSW	12	81,519,115 (GRCm39)	missense	probably damaging	1.00
R7126:Cox16	UTSW	12	81,518,940 (GRCm39)	missense	probably benign	0.01
R7594:Cox16	UTSW	12	81,521,352 (GRCm39)	splice site	probably null
R8267:Cox16	UTSW	12	81,527,713 (GRCm39)	missense	probably benign	0.00
R9447:Cox16	UTSW	12	81,406,109 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGGCCATTTACAGGAAAGACTC -3'
(R):5'- ACAAACAGTTTCAGGGTTTGG -3'

Sequencing Primer
(F):5'- GGAAAGACTCCTTGTAGAAAATCTAC -3'
(R):5'- CCAGTTGGGGCATCTCTCTG -3'

Posted On

2015-06-20