Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00941:Cyc1'

29069

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyc1

Ensembl Gene

ENSMUSG00000022551

Gene Name

cytochrome c-1

Synonyms

Cyct1, 2610002H19Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

76227723-76230460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76229365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 242 (I242V)

Ref Sequence

ENSEMBL: ENSMUSP00000023210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023210] [ENSMUST00000023211] [ENSMUST00000160560] [ENSMUST00000230314] [ENSMUST00000231045] [ENSMUST00000229013] [ENSMUST00000230706]

AlphaFold

Q9D0M3

Predicted Effect

probably benign
Transcript: ENSMUST00000023210
AA Change: I242V

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551
AA Change: I242V

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
Pfam:Cytochrom_C1	96	314	1.5e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023211

SMART Domains

Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552

Domain	Start	End	E-Value	Type
Pfam:Sharpin_PH	13	125	1.2e-44	PFAM
low complexity region	187	202	N/A	INTRINSIC
PDB:4DBG\|A	203	299	1e-17	PDB
SCOP:d1euvb_	212	301	2e-5	SMART
Blast:UBQ	218	299	2e-26	BLAST
ZnF_RBZ	343	367	9.65e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154477

Predicted Effect

probably benign
Transcript: ENSMUST00000160560

SMART Domains

Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
PDB:4EMO\|D	24	62	2e-13	PDB
low complexity region	64	81	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230016

Predicted Effect

probably benign
Transcript: ENSMUST00000230314

Predicted Effect

probably benign
Transcript: ENSMUST00000231045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229710

Predicted Effect

probably benign
Transcript: ENSMUST00000159429

SMART Domains

Protein: ENSMUSP00000124755
Gene: ENSMUSG00000022552

Domain	Start	End	E-Value	Type
ZnF_RBZ	46	70	9.65e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229013

Predicted Effect

probably benign
Transcript: ENSMUST00000230706

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,536,104 (GRCm39)	I521S	probably damaging	Het
Ace	A	T	11: 105,870,376 (GRCm39)	K265I	probably benign	Het
Acss3	A	G	10: 106,889,187 (GRCm39)		probably null	Het
Aldh3a2	A	G	11: 61,153,082 (GRCm39)	Y215H	probably damaging	Het
Clk2	A	G	3: 89,082,729 (GRCm39)	M393V	probably damaging	Het
Evpl	G	A	11: 116,118,727 (GRCm39)	L657F	probably benign	Het
Fbxw10	G	A	11: 62,764,327 (GRCm39)	V675M	probably damaging	Het
Fgf21	A	G	7: 45,264,597 (GRCm39)	V45A	probably damaging	Het
Gm5134	T	C	10: 75,836,255 (GRCm39)	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,208,749 (GRCm39)		probably benign	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Ifna12	A	T	4: 88,521,551 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,389,856 (GRCm39)	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,307,794 (GRCm39)	V73I	probably benign	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Mical2	T	C	7: 111,920,652 (GRCm39)		probably benign	Het
Mllt1	A	T	17: 57,202,086 (GRCm39)	S428R	probably damaging	Het
Ppm1k	T	A	6: 57,501,740 (GRCm39)	H141L	probably benign	Het
Septin4	G	T	11: 87,480,599 (GRCm39)	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,270,727 (GRCm39)	F550L	probably benign	Het
Ssb	T	A	2: 69,701,179 (GRCm39)		probably null	Het
Stk36	T	A	1: 74,663,093 (GRCm39)	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,471,808 (GRCm39)	A415T	probably benign	Het
Zfp839	C	A	12: 110,827,382 (GRCm39)	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,705,573 (GRCm39)	G95W	probably damaging	Het

Other mutations in Cyc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:Cyc1	APN	15	76,229,162 (GRCm39)	nonsense	probably null
IGL03111:Cyc1	APN	15	76,229,072 (GRCm39)	missense	probably benign	0.01
Colorful	UTSW	15	76,228,850 (GRCm39)	missense	probably damaging	1.00
R0131:Cyc1	UTSW	15	76,229,159 (GRCm39)	missense	probably benign	0.01
R0967:Cyc1	UTSW	15	76,229,848 (GRCm39)	unclassified	probably benign
R1428:Cyc1	UTSW	15	76,228,548 (GRCm39)	missense	probably benign	0.00
R2357:Cyc1	UTSW	15	76,229,766 (GRCm39)	missense	possibly damaging	0.89
R6794:Cyc1	UTSW	15	76,228,850 (GRCm39)	missense	probably damaging	1.00
R7506:Cyc1	UTSW	15	76,227,885 (GRCm39)	missense	probably benign	0.06
R8784:Cyc1	UTSW	15	76,227,863 (GRCm39)	missense	probably benign
R9013:Cyc1	UTSW	15	76,229,019 (GRCm39)	missense	possibly damaging	0.89
R9299:Cyc1	UTSW	15	76,228,506 (GRCm39)	missense	probably benign
R9337:Cyc1	UTSW	15	76,228,506 (GRCm39)	missense	probably benign
R9382:Cyc1	UTSW	15	76,229,273 (GRCm39)	missense	possibly damaging	0.90
R9634:Cyc1	UTSW	15	76,227,794 (GRCm39)	missense	probably benign

Posted On

2013-04-17