Mutagenetix > Incidental Mutation

Incidental Mutation 'R4162:Cybc1'

321575

Institutional Source

Beutler Lab

Gene Symbol

Cybc1

Ensembl Gene

ENSMUSG00000039294

Gene Name

cytochrome b 245 chaperone 1

Synonyms

BC017643

MMRRC Submission

041005-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121113414-121120135 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121115492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 109 (D109G)

Ref Sequence

ENSEMBL: ENSMUSP00000117829 (fasta)

Gene Model

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

AlphaFold

Q3TYS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000038709
AA Change: D109G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042277
Gene: ENSMUSG00000039294
AA Change: D109G

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: D109G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101721
Gene: ENSMUSG00000039294
AA Change: D109G

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

probably damaging
Transcript: ENSMUST00000147490
AA Change: D109G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117829
Gene: ENSMUSG00000039294
AA Change: D109G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133535

Predicted Effect

probably damaging
Transcript: ENSMUST00000137299
AA Change: D109G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120541
Gene: ENSMUSG00000039294
AA Change: D109G

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

Meta Mutation Damage Score

0.4017

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

93% (38/41)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	A	10: 83,342,518 (GRCm39)	I431F	possibly damaging	Het
Atrn	A	G	2: 130,836,148 (GRCm39)		probably benign	Het
Cep57	C	T	9: 13,723,929 (GRCm39)		probably null	Het
Cgas	G	A	9: 78,341,686 (GRCm39)	R364C	probably damaging	Het
Defb41	C	T	1: 18,330,821 (GRCm39)	C42Y	probably damaging	Het
Dnah3	C	T	7: 119,522,061 (GRCm39)	G4033D	probably damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Gli3	G	T	13: 15,899,700 (GRCm39)	S1029I	possibly damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm5592	A	G	7: 40,867,202 (GRCm39)		probably benign	Het
Grin2d	T	C	7: 45,507,042 (GRCm39)	K478E	probably damaging	Het
Il18	T	C	9: 50,490,712 (GRCm39)	S116P	probably damaging	Het
Itsn1	C	A	16: 91,649,790 (GRCm39)	P155T	probably benign	Het
Kdm5b	C	T	1: 134,552,899 (GRCm39)	P1292S	probably benign	Het
Mef2b	T	C	8: 70,618,961 (GRCm39)	F181S	probably damaging	Het
Mfn1	T	C	3: 32,617,147 (GRCm39)		probably benign	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Nrxn2	G	A	19: 6,582,173 (GRCm39)	V660I	probably damaging	Het
Nsun4	G	T	4: 115,891,391 (GRCm39)	Y329*	probably null	Het
Pank4	T	C	4: 155,064,051 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,540,068 (GRCm39)	E1075V	probably damaging	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Prkcd	A	G	14: 30,323,154 (GRCm39)	F461L	probably damaging	Het
Saxo5	C	T	8: 3,529,067 (GRCm39)	P214L	probably damaging	Het
Snx21	T	C	2: 164,628,770 (GRCm39)	Y138H	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,071,586 (GRCm39)	S2378P	probably damaging	Het
Thap12	C	T	7: 98,359,285 (GRCm39)		probably benign	Het
Trav3-1	T	C	14: 52,818,496 (GRCm39)	Y57H	probably damaging	Het
Ttc39c	A	G	18: 12,857,994 (GRCm39)		probably null	Het
Tubgcp3	C	T	8: 12,689,547 (GRCm39)	R573Q	possibly damaging	Het
Ush2a	A	C	1: 188,475,877 (GRCm39)	K2938T	probably benign	Het
Vasp	A	T	7: 18,993,397 (GRCm39)		probably null	Het
Zfhx3	C	A	8: 109,683,619 (GRCm39)	T3686K	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- TGCCCTGGAAAACACTAAGGG -3'
(R):5'- TCAGGAAAGCCAGCATCTG -3'

Sequencing Primer
(F):5'- GGACAGATATCCCAGTCTTGC -3'
(R):5'- ATCCACAAGTTATTCTGGGTCCATCG -3'

Posted On

2015-06-12