Mutagenetix > Incidental Mutation

Incidental Mutation 'R4523:Cybc1'

334320

Institutional Source

Beutler Lab

Gene Symbol

Cybc1

Ensembl Gene

ENSMUSG00000039294

Gene Name

cytochrome b 245 chaperone 1

Synonyms

BC017643

MMRRC Submission

042004-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4523 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121113414-121120135 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 121114934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127260 (fasta)

Gene Model

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

AlphaFold

Q3TYS2

Predicted Effect

probably benign
Transcript: ENSMUST00000038709

SMART Domains

Protein: ENSMUSP00000042277
Gene: ENSMUSG00000039294

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 benign
Transcript: ENSMUST00000106115

SMART Domains

Protein: ENSMUSP00000101721
Gene: ENSMUSG00000039294

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: ENSMUST00000128913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133535

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000147490

SMART Domains

Protein: ENSMUSP00000117829
Gene: ENSMUSG00000039294

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

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: ENSMUST00000137299

SMART Domains

Protein: ENSMUSP00000120541
Gene: ENSMUSG00000039294

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	G	T	5: 67,824,943 (GRCm39)	T796K	probably benign	Het
Atr	T	C	9: 95,744,916 (GRCm39)	S78P	probably damaging	Het
Calb2	C	T	8: 110,875,141 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Cdca7	A	G	2: 72,310,042 (GRCm39)	S77G	probably damaging	Het
Cfap47	A	T	X: 78,553,601 (GRCm39)	N291K	possibly damaging	Het
Cnot2	C	T	10: 116,417,379 (GRCm39)		probably benign	Het
Cstf2t	T	A	19: 31,060,482 (GRCm39)	V6D	possibly damaging	Het
Dido1	T	C	2: 180,314,085 (GRCm39)	I852V	probably damaging	Het
Dmgdh	C	T	13: 93,825,138 (GRCm39)	Q154*	probably null	Het
Dnah12	T	C	14: 26,491,979 (GRCm39)	F1138S	probably damaging	Het
Dnah12	G	A	14: 26,598,915 (GRCm39)	A998T	possibly damaging	Het
Dusp5	T	G	19: 53,526,032 (GRCm39)	Y225D	probably damaging	Het
Fam193a	G	A	5: 34,600,715 (GRCm39)	D601N	probably benign	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Fmo2	T	C	1: 162,715,277 (GRCm39)	K115R	probably benign	Het
Gak	G	T	5: 108,724,432 (GRCm39)	Q1093K	probably benign	Het
Gm5277	G	T	3: 78,799,493 (GRCm39)		noncoding transcript	Het
Hgsnat	A	G	8: 26,458,389 (GRCm39)		probably null	Het
Hycc1	T	C	5: 24,170,120 (GRCm39)	T410A	probably benign	Het
Irag1	T	C	7: 110,523,048 (GRCm39)	M338V	probably benign	Het
Map3k3	G	A	11: 106,039,694 (GRCm39)	R278H	probably damaging	Het
Muc4	T	C	16: 32,555,154 (GRCm39)		probably benign	Het
Nectin3	C	A	16: 46,268,953 (GRCm39)	R483L	probably benign	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Ntng1	A	G	3: 109,842,312 (GRCm39)	S154P	probably damaging	Het
Olfml2b	T	C	1: 170,496,791 (GRCm39)	I474T	probably benign	Het
Optc	G	T	1: 133,831,492 (GRCm39)	T138K	possibly damaging	Het
Or7g25	T	C	9: 19,160,525 (GRCm39)	T57A	probably damaging	Het
Or8k22	C	G	2: 86,163,644 (GRCm39)	D19H	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pard3	C	T	8: 128,125,108 (GRCm39)	P421S	probably benign	Het
Pcdhb22	G	T	18: 37,653,474 (GRCm39)	E647D	probably benign	Het
Pclo	A	G	5: 14,730,006 (GRCm39)		probably benign	Het
Prkce	G	T	17: 86,798,178 (GRCm39)		probably null	Het
Prr12	T	C	7: 44,697,947 (GRCm39)	D656G	unknown	Het
Ptprk	A	T	10: 28,342,048 (GRCm39)	D485V	probably damaging	Het
Ptprn2	T	C	12: 116,839,620 (GRCm39)	L381P	probably damaging	Het
Rnf144b	T	C	13: 47,361,013 (GRCm39)	I51T	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Sh3glb2	A	T	2: 30,240,711 (GRCm39)	V118E	probably damaging	Het
Sipa1l2	C	T	8: 126,219,163 (GRCm39)	G58D	probably damaging	Het
Slc5a4a	C	T	10: 75,984,196 (GRCm39)	A46V	probably damaging	Het
Spmip8	T	A	8: 96,039,638 (GRCm39)	Y18*	probably null	Het
Tgm7	C	A	2: 120,929,069 (GRCm39)		probably null	Het
Tjap1	A	G	17: 46,569,718 (GRCm39)	V424A	probably benign	Het
Trpm6	A	T	19: 18,773,864 (GRCm39)	I414F	probably damaging	Het
Tsr3	C	G	17: 25,460,723 (GRCm39)	D196E	probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn2r72	T	A	7: 85,401,134 (GRCm39)	H95L	probably benign	Het
Vmn2r97	T	A	17: 19,149,333 (GRCm39)	N240K	probably benign	Het
Xdh	C	A	17: 74,205,339 (GRCm39)	G1042V	probably damaging	Het
Zcchc4	A	G	5: 52,941,409 (GRCm39)	D68G	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
IGL01476:Cybc1	APN	11	121,116,671 (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
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

Predicted Primers

PCR Primer
(F):5'- CACACCCTGCATCCTGATAGATG -3'
(R):5'- GTGGAACTGTACCCTTTGCC -3'

Sequencing Primer
(F):5'- ATCCTGATAGATGCAACCTTTCTGGG -3'
(R):5'- TTTGCCAAGGTGACCTGC -3'

Posted On

2015-08-18