Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01476:Cybc1'

88476

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cybc1

Ensembl Gene

ENSMUSG00000039294

Gene Name

cytochrome b 245 chaperone 1

Synonyms

BC017643

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01476

Quality Score

Status

Chromosome

Chromosomal Location

121113414-121120135 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121116671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 86 (Y86C)

Ref Sequence

ENSEMBL: ENSMUSP00000117829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038709] [ENSMUST00000038831] [ENSMUST00000106115] [ENSMUST00000106117] [ENSMUST00000137299] [ENSMUST00000147490] [ENSMUST00000169393]

AlphaFold

Q3TYS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000038709
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042277
Gene: ENSMUSG00000039294
AA Change: Y86C

Domain	Start	End	E-Value	Type
Pfam:DUF4564	1	187	1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038831

SMART Domains

Protein: ENSMUSP00000048479
Gene: ENSMUSG00000039307

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_20	30	223	2.9e-12	PFAM
low complexity region	528	538	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106115
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101721
Gene: ENSMUSG00000039294
AA Change: Y86C

Domain	Start	End	E-Value	Type
Pfam:DUF4564	2	184	3e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106117

SMART Domains

Protein: ENSMUSP00000101723
Gene: ENSMUSG00000039307

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_20	31	229	1.7e-18	PFAM
low complexity region	455	465	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124761

SMART Domains

Protein: ENSMUSP00000116406
Gene: ENSMUSG00000039307

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_20	20	194	6.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133535

Predicted Effect

probably damaging
Transcript: ENSMUST00000137299
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120541
Gene: ENSMUSG00000039294
AA Change: Y86C

Domain	Start	End	E-Value	Type
Pfam:DUF4564	1	150	9.9e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000147490
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117829
Gene: ENSMUSG00000039294
AA Change: Y86C

Domain	Start	End	E-Value	Type
Pfam:DUF4564	1	132	7.2e-65	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000169393

SMART Domains

Protein: ENSMUSP00000127260
Gene: ENSMUSG00000039294

Domain	Start	End	E-Value	Type
Pfam:DUF4564	1	51	6.9e-20	PFAM
low complexity region	67	78	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156214

SMART Domains

Protein: ENSMUSP00000131293
Gene: ENSMUSG00000039294

Domain	Start	End	E-Value	Type
Pfam:DUF4564	1	57	1.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151495

SMART Domains

Protein: ENSMUSP00000123073
Gene: ENSMUSG00000039307

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_20	27	220	3.1e-12	PFAM
low complexity region	525	535	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,353,834 (GRCm39)	T3719A	probably damaging	Het
Abcc10	A	G	17: 46,638,863 (GRCm39)		probably benign	Het
Atp13a2	G	A	4: 140,728,081 (GRCm39)	C558Y	probably damaging	Het
Btbd1	G	A	7: 81,450,797 (GRCm39)	R328*	probably null	Het
Cdk8	A	G	5: 146,231,973 (GRCm39)		probably null	Het
Chd8	A	T	14: 52,442,947 (GRCm39)	N534K	probably benign	Het
Dlgap2	C	T	8: 14,828,301 (GRCm39)	R570*	probably null	Het
Eri2	A	C	7: 119,389,472 (GRCm39)	F149V	probably damaging	Het
Esyt1	A	G	10: 128,347,363 (GRCm39)	M1054T	probably damaging	Het
Gcm2	A	G	13: 41,259,217 (GRCm39)	V84A	probably damaging	Het
Got1	A	C	19: 43,512,848 (GRCm39)	V16G	probably damaging	Het
Itga9	C	T	9: 118,436,179 (GRCm39)	R62C	probably damaging	Het
Kif21a	T	C	15: 90,828,067 (GRCm39)	R1232G	possibly damaging	Het
Map1a	A	G	2: 121,135,688 (GRCm39)	Y1930C	probably damaging	Het
Or1e25	T	C	11: 73,494,056 (GRCm39)	S217P	probably damaging	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or2ag2b	G	A	7: 106,417,827 (GRCm39)	C179Y	probably damaging	Het
Pclo	A	G	5: 14,571,122 (GRCm39)	K169R	probably damaging	Het
Rnf169	A	C	7: 99,604,691 (GRCm39)	Y174D	probably damaging	Het
Sarm1	T	C	11: 78,381,637 (GRCm39)	E282G	probably damaging	Het
Sec24a	A	G	11: 51,599,783 (GRCm39)	S840P	possibly damaging	Het
Skor2	A	T	18: 76,946,362 (GRCm39)	Q28L	unknown	Het
Slc35f2	T	C	9: 53,713,990 (GRCm39)	V168A	possibly damaging	Het
Slc6a7	A	T	18: 61,138,845 (GRCm39)	L221Q	probably damaging	Het
Spata31e5	A	T	1: 28,816,534 (GRCm39)	H499Q	probably benign	Het
Syt4	A	T	18: 31,574,696 (GRCm39)	V307E	probably damaging	Het
Tasp1	A	G	2: 139,850,693 (GRCm39)	L110S	probably benign	Het
Thnsl1	T	A	2: 21,216,970 (GRCm39)	D241E	probably benign	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tpbpb	A	T	13: 61,049,948 (GRCm39)	D60E	probably benign	Het
Trip11	T	C	12: 101,865,170 (GRCm39)	I168V	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Wscd2	A	G	5: 113,710,382 (GRCm39)	D302G	probably damaging	Het

Other mutations in Cybc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Cybc1	APN	11	121,119,156 (GRCm39)	missense	probably damaging	1.00
R0737:Cybc1	UTSW	11	121,118,068 (GRCm39)	critical splice donor site	probably null
R4067:Cybc1	UTSW	11	121,115,528 (GRCm39)	splice site	probably null
R4162:Cybc1	UTSW	11	121,115,492 (GRCm39)	missense	probably damaging	0.99
R4523:Cybc1	UTSW	11	121,114,934 (GRCm39)	unclassified	probably benign
R4524:Cybc1	UTSW	11	121,114,934 (GRCm39)	unclassified	probably benign
R8560:Cybc1	UTSW	11	121,115,041 (GRCm39)	missense	probably damaging	1.00
R8830:Cybc1	UTSW	11	121,119,549 (GRCm39)	intron	probably benign
X0013:Cybc1	UTSW	11	121,119,168 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18