Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03118:Mybpc3'

409862

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mybpc3

Ensembl Gene

ENSMUSG00000002100

Gene Name

myosin binding protein C, cardiac

Synonyms

cardiac C-protein

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

91118144-91136516 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91124503 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 453 (V453A)

Ref Sequence

ENSEMBL: ENSMUSP00000127070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111430] [ENSMUST00000137942] [ENSMUST00000169776]

Predicted Effect

probably damaging
Transcript: ENSMUST00000111430
AA Change: V452A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: V452A

Domain	Start	End	E-Value	Type
IG	24	103	4.86e-2	SMART
low complexity region	131	143	N/A	INTRINSIC
IG	167	263	2.81e-7	SMART
IG	373	453	1.25e-4	SMART
IG	463	544	2.48e-8	SMART
IG	554	640	3.16e-1	SMART
IG	659	772	3.91e-6	SMART
FN3	775	858	2.5e-11	SMART
FN3	873	956	7.06e-11	SMART
IG	983	1066	3.3e-4	SMART
FN3	1069	1151	4.38e-7	SMART
IGc2	1196	1263	6.21e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137942
AA Change: V288A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: V288A

Domain	Start	End	E-Value	Type
IG	3	99	2.81e-7	SMART
low complexity region	135	152	N/A	INTRINSIC
IG	209	289	1.25e-4	SMART
IG	299	380	2.48e-8	SMART
IG	390	476	3.16e-1	SMART
IG	495	608	3.91e-6	SMART
FN3	611	694	2.5e-11	SMART
FN3	709	792	7.06e-11	SMART
IG	819	902	3.3e-4	SMART
FN3	905	987	4.38e-7	SMART
IGc2	1032	1099	6.21e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169776
AA Change: V453A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: V453A

Domain	Start	End	E-Value	Type
IG	24	103	4.86e-2	SMART
low complexity region	131	143	N/A	INTRINSIC
IG	167	263	2.81e-7	SMART
IG	374	454	1.25e-4	SMART
IG	464	545	2.48e-8	SMART
IG	555	641	3.16e-1	SMART
IG	660	773	3.91e-6	SMART
FN3	776	859	2.5e-11	SMART
FN3	874	957	7.06e-11	SMART
IG	984	1067	3.3e-4	SMART
FN3	1070	1152	4.38e-7	SMART
IGc2	1197	1264	6.21e-9	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,236,753		probably benign	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cln3	T	C	7: 126,575,397	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Ighv5-12	T	A	12: 113,702,578	M1L	probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Kcnn3	T	A	3: 89,667,161	L660Q	probably damaging	Het
Lcor	C	T	19: 41,558,369	P131S	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pik3ca	A	T	3: 32,459,935	I857F	probably damaging	Het
Pold1	T	A	7: 44,539,400	I447F	probably benign	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470	A149V	probably benign	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Sept3	G	A	15: 82,284,514		probably null	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Slc27a6	C	A	18: 58,556,743	H94N	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		probably benign	Het

Other mutations in Mybpc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Mybpc3	APN	2	91120029	missense	probably benign
IGL00985:Mybpc3	APN	2	91135359	missense	probably benign	0.16
IGL01926:Mybpc3	APN	2	91135407	missense	possibly damaging	0.61
IGL02135:Mybpc3	APN	2	91124826	missense	possibly damaging	0.58
IGL02187:Mybpc3	APN	2	91135452	missense	probably benign
IGL02219:Mybpc3	APN	2	91121023	critical splice acceptor site	probably null
IGL02752:Mybpc3	APN	2	91132637	critical splice acceptor site	probably null
IGL03002:Mybpc3	APN	2	91123889	missense	probably damaging	1.00
IGL03238:Mybpc3	APN	2	91131659	missense	probably damaging	1.00
R0010:Mybpc3	UTSW	2	91134833	nonsense	probably null
R0114:Mybpc3	UTSW	2	91124494	missense	probably damaging	1.00
R0139:Mybpc3	UTSW	2	91120337	splice site	probably benign
R0282:Mybpc3	UTSW	2	91124024	splice site	probably benign
R0673:Mybpc3	UTSW	2	91120427	missense	probably damaging	1.00
R1388:Mybpc3	UTSW	2	91122874	missense	probably benign	0.43
R2159:Mybpc3	UTSW	2	91125370	missense	probably damaging	1.00
R2424:Mybpc3	UTSW	2	91135793	missense	probably benign	0.20
R3983:Mybpc3	UTSW	2	91135369	missense	probably benign
R4322:Mybpc3	UTSW	2	91123961	missense	possibly damaging	0.87
R4909:Mybpc3	UTSW	2	91134812	missense	probably benign
R4913:Mybpc3	UTSW	2	91126264	missense	possibly damaging	0.46
R4965:Mybpc3	UTSW	2	91119247	missense	possibly damaging	0.50
R5248:Mybpc3	UTSW	2	91125228	splice site	probably null
R5311:Mybpc3	UTSW	2	91128678	nonsense	probably null
R5332:Mybpc3	UTSW	2	91122938	missense	probably damaging	1.00
R5635:Mybpc3	UTSW	2	91134829	missense	probably benign	0.00
R5647:Mybpc3	UTSW	2	91121722	splice site	probably null
R5698:Mybpc3	UTSW	2	91124849	missense	possibly damaging	0.85
R5832:Mybpc3	UTSW	2	91119175	splice site	probably null
R5895:Mybpc3	UTSW	2	91124665	missense	probably damaging	0.99
R6833:Mybpc3	UTSW	2	91125428	splice site	probably null
R7061:Mybpc3	UTSW	2	91125404	missense	possibly damaging	0.93
R7144:Mybpc3	UTSW	2	91134604	missense	probably benign	0.03
R7169:Mybpc3	UTSW	2	91118179	missense	possibly damaging	0.85
R7472:Mybpc3	UTSW	2	91131656	missense	probably damaging	1.00
R7538:Mybpc3	UTSW	2	91120487	missense	probably damaging	1.00
R7677:Mybpc3	UTSW	2	91129031	missense	probably benign	0.04
R7955:Mybpc3	UTSW	2	91126056	splice site	probably null
R8290:Mybpc3	UTSW	2	91121128	missense	probably benign	0.00
Z1088:Mybpc3	UTSW	2	91135359	missense	probably benign	0.16
Z1176:Mybpc3	UTSW	2	91120403	missense	possibly damaging	0.85
Z1177:Mybpc3	UTSW	2	91123964	missense	possibly damaging	0.95

Posted On

2016-08-02