Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00904:Mybpc3'

26837

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: 0.580) question?

Stock #

IGL00904

Quality Score

Status

Chromosome

Chromosomal Location

91118144-91136516 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91120029 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 123 (V123A)

Ref Sequence

ENSEMBL: ENSMUSP00000127070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002180] [ENSMUST00000111430] [ENSMUST00000137942] [ENSMUST00000169776]

Predicted Effect

probably benign
Transcript: ENSMUST00000002180

SMART Domains

Protein: ENSMUSP00000002180
Gene: ENSMUSG00000002111

Domain	Start	End	E-Value	Type
low complexity region	56	73	N/A	INTRINSIC
low complexity region	78	85	N/A	INTRINSIC
low complexity region	154	167	N/A	INTRINSIC
ETS	171	259	9.71e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111430
AA Change: V123A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: V123A

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

probably benign
Transcript: ENSMUST00000137942

SMART Domains

Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100

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 benign
Transcript: ENSMUST00000169776
AA Change: V123A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: V123A

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,946,153	G236C	probably damaging	Het
Abi1	C	T	2: 22,941,930	R404Q	possibly damaging	Het
Atp8b3	C	T	10: 80,528,764	G532R	probably damaging	Het
Bysl	C	T	17: 47,601,871	M331I	probably benign	Het
Cndp1	A	G	18: 84,611,665	S468P	probably benign	Het
Esd	A	G	14: 74,749,688	*266W	probably null	Het
F5	T	C	1: 164,194,009	V1351A	probably benign	Het
Fchsd2	A	G	7: 101,271,622	D454G	probably benign	Het
Fndc1	T	A	17: 7,756,363	M1415L	probably benign	Het
Ghr	T	A	15: 3,328,120	Y222F	probably benign	Het
Gm6583	G	A	5: 112,355,128	R237*	probably null	Het
Gtf3c2	C	T	5: 31,172,858	S299N	probably damaging	Het
Ice1	C	T	13: 70,602,289	D93N	probably damaging	Het
Ints7	T	A	1: 191,596,164		probably null	Het
Kif18a	A	G	2: 109,292,126	D182G	probably damaging	Het
Mcm9	A	T	10: 53,622,921	H308Q	possibly damaging	Het
Mesp2	A	G	7: 79,812,653	D319G	probably benign	Het
Mrpl55	T	A	11: 59,205,673	S84T	probably benign	Het
Myom1	T	C	17: 71,099,949		probably benign	Het
Nfia	C	T	4: 98,065,386	P325S	probably damaging	Het
Notch4	T	C	17: 34,575,561		probably null	Het
Npepps	A	C	11: 97,258,306	V130G	probably damaging	Het
Olfr1356	A	T	10: 78,847,763	S51T	probably damaging	Het
Pja2	G	T	17: 64,283,531	T669K	probably damaging	Het
Rnf112	G	T	11: 61,452,784	D98E	probably damaging	Het
Rsl1d1	G	A	16: 11,199,694	T136I	probably damaging	Het
Samsn1	A	T	16: 75,909,120		probably benign	Het
Slc6a9	T	C	4: 117,864,617	L280P	probably damaging	Het
Svep1	T	C	4: 58,097,398	N1382D	probably benign	Het
Vmn2r100	T	G	17: 19,526,000	C474G	probably damaging	Het
Vmn2r74	C	T	7: 85,957,580	R186H	probably benign	Het
Wdr7	T	C	18: 63,796,231	I1046T	probably benign	Het

Other mutations in Mybpc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03118:Mybpc3	APN	2	91124503	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
R8486:Mybpc3	UTSW	2	91128772	missense	probably damaging	1.00
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

2013-04-17