Mutagenetix > Incidental Mutation

Incidental Mutation 'R0967:Cyc1'

83921

Institutional Source

Beutler Lab

Gene Symbol

Cyc1

Ensembl Gene

ENSMUSG00000022551

Gene Name

cytochrome c-1

Synonyms

Cyct1, 2610002H19Rik

MMRRC Submission

039096-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R0967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76227723-76230460 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 76229848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155170 (fasta)

Gene Model

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

AlphaFold

Q9D0M3

Predicted Effect

probably benign
Transcript: ENSMUST00000023210

SMART Domains

Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551

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: ENSMUST00000154477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152151

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: 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: ENSMUST00000229292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229946

Predicted Effect

probably benign
Transcript: ENSMUST00000231045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229536

Predicted Effect

probably benign
Transcript: ENSMUST00000230706

Predicted Effect

probably benign
Transcript: ENSMUST00000230314

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.1%
20x: 90.5%

Validation Efficiency

100% (44/44)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	T	18: 59,105,812 (GRCm39)	E736*	probably null	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
Camk1g	T	C	1: 193,032,604 (GRCm39)	E269G	probably damaging	Het
Ccrl2	G	A	9: 110,884,754 (GRCm39)	T248M	probably benign	Het
Chd9	T	C	8: 91,716,107 (GRCm39)	S421P	probably damaging	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Cplane2	T	C	4: 140,947,162 (GRCm39)	M181T	probably benign	Het
Csmd3	T	C	15: 47,721,227 (GRCm39)	E1468G	probably null	Het
Fli1	T	A	9: 32,372,745 (GRCm39)	T98S	probably benign	Het
Gk2	T	C	5: 97,604,155 (GRCm39)	S228G	probably benign	Het
Gse1	T	A	8: 121,297,594 (GRCm39)		probably benign	Het
Hgf	T	A	5: 16,798,839 (GRCm39)		probably benign	Het
Hif1a	G	A	12: 73,984,444 (GRCm39)	V300I	possibly damaging	Het
Hsd17b4	C	A	18: 50,316,328 (GRCm39)	H652N	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kif5c	T	A	2: 49,588,128 (GRCm39)		probably benign	Het
Lgr6	T	C	1: 134,921,750 (GRCm39)	Y198C	probably damaging	Het
Lpcat2b	T	A	5: 107,582,084 (GRCm39)	M471K	possibly damaging	Het
Med21	A	G	6: 146,551,697 (GRCm39)	E116G	probably benign	Het
Mos	A	G	4: 3,870,932 (GRCm39)	S295P	probably benign	Het
Ms4a15	A	T	19: 10,956,685 (GRCm39)	V209E	probably damaging	Het
Mttp	A	G	3: 137,798,484 (GRCm39)	V804A	probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,594 (GRCm39)	M121T	probably damaging	Het
Or52n4b	T	C	7: 108,143,996 (GRCm39)	I86T	probably damaging	Het
Or5ac23	T	A	16: 59,149,546 (GRCm39)	T109S	possibly damaging	Het
Plagl1	T	C	10: 13,003,986 (GRCm39)		probably benign	Het
Prpf8	T	A	11: 75,385,256 (GRCm39)	V797E	probably damaging	Het
Rars2	A	G	4: 34,646,587 (GRCm39)	D284G	probably benign	Het
Rassf8	T	C	6: 145,765,676 (GRCm39)		probably benign	Het
Rfx3	A	G	19: 27,783,751 (GRCm39)		probably benign	Het
Ripk4	A	T	16: 97,545,372 (GRCm39)	M362K	probably damaging	Het
Rubcn	C	A	16: 32,646,087 (GRCm39)	E815D	probably benign	Het
Scn8a	A	G	15: 100,933,527 (GRCm39)	Y1577C	probably damaging	Het
Sec24b	C	T	3: 129,790,431 (GRCm39)	R698Q	probably damaging	Het
Ssc5d	T	A	7: 4,947,342 (GRCm39)	L1232*	probably null	Het
Usp7	A	T	16: 8,514,518 (GRCm39)		probably benign	Het
Vmn2r51	T	G	7: 9,834,012 (GRCm39)	H342P	probably damaging	Het
Vmn2r70	A	G	7: 85,208,827 (GRCm39)	M550T	probably damaging	Het
Vmn2r81	T	C	10: 79,083,857 (GRCm39)		probably benign	Het
Zc3h13	T	C	14: 75,581,179 (GRCm39)	I1722T	possibly damaging	Het

Other mutations in Cyc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Cyc1	APN	15	76,229,365 (GRCm39)	missense	probably benign	0.39
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
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

Predicted Primers

PCR Primer
(F):5'- CACAAGTAGCTAAGGATGTCGCCAC -3'
(R):5'- TATTCCCACACTGAGGGCTGAAGG -3'

Sequencing Primer
(F):5'- AAGGATGTCGCCACCTTCC -3'
(R):5'- CCCTTGTATCTGATGAAAAGGGC -3'

Posted On

2013-11-08