Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02530:Cox8c'

297291

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cox8c

Ensembl Gene

ENSMUSG00000043319

Gene Name

cytochrome c oxidase subunit 8C

Synonyms

COXVIII-3, 1700007F21Rik, COX8-3

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02530

Quality Score

Status

Chromosome

Chromosomal Location

102865575-102866785 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 102865752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053611]

AlphaFold

A6H666

Predicted Effect

probably null
Transcript: ENSMUST00000053611

SMART Domains

Protein: ENSMUSP00000056155
Gene: ENSMUSG00000043319

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:COX8	30	72	2.7e-13	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 66,559,124 (GRCm39)	F305L	probably damaging	Het
Ankrd12	T	C	17: 66,291,398 (GRCm39)	H1345R	probably benign	Het
Bloc1s5	A	T	13: 38,787,859 (GRCm39)	M175K	probably damaging	Het
C9	T	A	15: 6,526,613 (GRCm39)	M549K	probably benign	Het
Cfap52	A	G	11: 67,845,007 (GRCm39)		probably benign	Het
Cntnap2	A	T	6: 46,998,670 (GRCm39)	K907N	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp26b1	A	T	6: 84,551,294 (GRCm39)	N307K	possibly damaging	Het
Cyp2s1	T	C	7: 25,515,849 (GRCm39)		probably benign	Het
Dpysl2	G	A	14: 67,061,847 (GRCm39)	T253I	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Egflam	T	A	15: 7,252,293 (GRCm39)	I835F	probably damaging	Het
Eif5a	A	T	11: 69,809,989 (GRCm39)	H51Q	possibly damaging	Het
Fancd2	T	A	6: 113,539,422 (GRCm39)	I637N	probably damaging	Het
Gpr173	T	A	X: 151,130,092 (GRCm39)	H127L	probably damaging	Het
Klc3	T	C	7: 19,130,969 (GRCm39)	I203V	probably benign	Het
Lsg1	T	C	16: 30,390,060 (GRCm39)	K352E	probably benign	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Med12l	G	T	3: 58,984,510 (GRCm39)	D483Y	probably damaging	Het
Mlh1	A	G	9: 111,058,943 (GRCm39)	Y694H	probably benign	Het
Mmrn1	A	G	6: 60,935,160 (GRCm39)	R219G	possibly damaging	Het
Nsd1	T	C	13: 55,450,646 (GRCm39)		probably benign	Het
Or2y1f	A	T	11: 49,184,555 (GRCm39)	M136L	possibly damaging	Het
Or8k33	C	T	2: 86,384,224 (GRCm39)	M81I	possibly damaging	Het
Pax3	A	T	1: 78,098,424 (GRCm39)	S322T	possibly damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Plekhb2	T	C	1: 34,916,022 (GRCm39)	V187A	possibly damaging	Het
Pot1a	A	T	6: 25,794,592 (GRCm39)	F31I	probably damaging	Het
Rpap1	A	T	2: 119,613,720 (GRCm39)		probably benign	Het
Scmh1	T	A	4: 120,385,343 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,560,522 (GRCm39)	T1251A	probably damaging	Het
Siglecf	T	C	7: 43,001,634 (GRCm39)	V148A	probably benign	Het
Slit3	A	G	11: 35,598,969 (GRCm39)	*1524W	probably null	Het
Son	C	A	16: 91,455,359 (GRCm39)	P1369T	possibly damaging	Het
Spp2	T	A	1: 88,338,868 (GRCm39)	L25*	probably null	Het
Sptbn4	T	C	7: 27,090,976 (GRCm39)	Q1405R	probably damaging	Het
Traf3ip2	G	T	10: 39,522,902 (GRCm39)	A463S	possibly damaging	Het
Trappc11	T	C	8: 47,960,617 (GRCm39)	E27G	probably damaging	Het
Vmn2r12	C	T	5: 109,233,858 (GRCm39)	V785I	probably damaging	Het
Zc3h8	A	G	2: 128,785,846 (GRCm39)		probably benign	Het
Zfp57	T	A	17: 37,317,056 (GRCm39)	S45T	probably damaging	Het

Other mutations in Cox8c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Cox8c	APN	12	102,865,626 (GRCm39)	start codon destroyed	probably null
R2280:Cox8c	UTSW	12	102,865,713 (GRCm39)	missense	possibly damaging	0.71
R4695:Cox8c	UTSW	12	102,865,742 (GRCm39)	missense	possibly damaging	0.80
R6066:Cox8c	UTSW	12	102,866,534 (GRCm39)	missense	probably benign
R8848:Cox8c	UTSW	12	102,865,577 (GRCm39)	utr 5 prime	probably benign
X0025:Cox8c	UTSW	12	102,865,627 (GRCm39)	start codon destroyed	probably null

Posted On

2015-04-16