Mutagenetix > Incidental Mutation

Incidental Mutation 'R0139:Mybpc3'

22152

Institutional Source

Beutler Lab

Gene Symbol

Mybpc3

Ensembl Gene

ENSMUSG00000002100

Gene Name

myosin binding protein C, cardiac

Synonyms

cardiac C-protein

MMRRC Submission

038424-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R0139 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

90948489-90966861 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 90950682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127070 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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

SMART Domains

Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100

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

SMART Domains

Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100

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

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	C	T	8: 12,329,899 (GRCm39)	S118L	unknown	Het
Adprs	A	G	4: 126,211,947 (GRCm39)	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,222,007 (GRCm39)	S544P	probably benign	Het
Aopep	A	G	13: 63,338,298 (GRCm39)	N558S	probably benign	Het
Arhgef7	A	G	8: 11,850,503 (GRCm39)	E111G	probably damaging	Het
Atp11a	A	G	8: 12,896,054 (GRCm39)	M755V	probably benign	Het
Atp2a2	A	G	5: 122,629,778 (GRCm39)	I97T	probably damaging	Het
Bmp3	G	A	5: 99,027,768 (GRCm39)	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,255,230 (GRCm39)		probably benign	Het
Ccdc28a	G	A	10: 18,106,188 (GRCm39)	S46F	possibly damaging	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Cenpw	T	G	10: 30,076,455 (GRCm39)	T8P	probably benign	Het
Cfap44	G	C	16: 44,253,785 (GRCm39)	G893R	possibly damaging	Het
Cimap3	A	T	3: 105,906,886 (GRCm39)	M171K	possibly damaging	Het
Cops7a	A	T	6: 124,938,323 (GRCm39)	C110S	probably damaging	Het
Cstl1	A	G	2: 148,597,245 (GRCm39)	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,511,114 (GRCm39)		probably null	Het
Dio2	T	A	12: 90,696,617 (GRCm39)	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,082,248 (GRCm39)	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,717,830 (GRCm39)	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,043,446 (GRCm39)	H162P	probably damaging	Het
Exoc5	C	T	14: 49,273,493 (GRCm39)	E301K	probably damaging	Het
F13b	G	A	1: 139,435,941 (GRCm39)	S249N	probably damaging	Het
Fam120b	C	T	17: 15,646,446 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,250,231 (GRCm39)	L396S	probably damaging	Het
Gck	T	A	11: 5,859,139 (GRCm39)	K143*	probably null	Het
Gck	C	A	11: 5,860,370 (GRCm39)	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gm4884	T	C	7: 40,692,387 (GRCm39)	F119L	probably benign	Het
Igsf11	T	C	16: 38,829,240 (GRCm39)	S45P	probably damaging	Het
Iho1	T	C	9: 108,289,695 (GRCm39)	T176A	probably damaging	Het
Il10	G	A	1: 130,950,271 (GRCm39)	V142M	probably damaging	Het
Insc	A	T	7: 114,368,237 (GRCm39)	H9L	probably damaging	Het
Iqsec1	G	T	6: 90,786,740 (GRCm39)		probably benign	Het
Katnb1	A	G	8: 95,825,050 (GRCm39)	S611G	possibly damaging	Het
Kcnb1	A	G	2: 166,947,459 (GRCm39)	I463T	possibly damaging	Het
Lao1	A	G	4: 118,821,399 (GRCm39)	N90S	probably benign	Het
Med16	T	A	10: 79,732,635 (GRCm39)	M710L	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mtus1	G	A	8: 41,469,233 (GRCm39)		probably benign	Het
Ndor1	C	T	2: 25,138,366 (GRCm39)	V405M	possibly damaging	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nme8	T	C	13: 19,862,018 (GRCm39)	I204V	probably benign	Het
Nup133	A	T	8: 124,656,082 (GRCm39)	N466K	probably benign	Het
Nxt1	A	G	2: 148,517,390 (GRCm39)	T44A	probably benign	Het
Or14c46	T	C	7: 85,918,187 (GRCm39)	E270G	probably benign	Het
Or2ag15	A	T	7: 106,340,832 (GRCm39)	I103N	probably benign	Het
Or2y12	C	T	11: 49,426,401 (GRCm39)	L130F	probably benign	Het
Or4e1	T	C	14: 52,700,669 (GRCm39)	T239A	probably damaging	Het
Or4f7	A	T	2: 111,644,699 (GRCm39)	I124K	possibly damaging	Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pced1a	T	C	2: 130,263,827 (GRCm39)	K275R	probably benign	Het
Pdcd11	A	G	19: 47,099,398 (GRCm39)		probably null	Het
Phldb2	A	C	16: 45,591,029 (GRCm39)		probably benign	Het
Piwil1	C	A	5: 128,824,387 (GRCm39)	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,054,501 (GRCm39)		probably benign	Het
Ppargc1b	A	T	18: 61,449,034 (GRCm39)		probably benign	Het
Psg19	C	T	7: 18,530,942 (GRCm39)	V71I	possibly damaging	Het
Ptk6	T	C	2: 180,838,724 (GRCm39)		probably benign	Het
Pus7	A	G	5: 23,983,090 (GRCm39)	S126P	probably damaging	Het
Rab6b	T	A	9: 103,017,576 (GRCm39)		probably null	Het
Ranbp3	G	A	17: 57,016,272 (GRCm39)	R347Q	possibly damaging	Het
Sanbr	A	T	11: 23,570,214 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,186,701 (GRCm39)	L866Q	probably damaging	Het
Slc25a34	A	G	4: 141,349,663 (GRCm39)	V164A	possibly damaging	Het
Smg1	A	G	7: 117,751,898 (GRCm39)		probably null	Het
Spin1	G	T	13: 51,303,048 (GRCm39)	V214L	probably benign	Het
Spmip2	A	T	3: 79,313,142 (GRCm39)	Y72F	probably damaging	Het
Sptbn1	T	C	11: 30,092,289 (GRCm39)	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,068,955 (GRCm39)		noncoding transcript	Het
Taar7f	T	C	10: 23,926,312 (GRCm39)	I302T	probably benign	Het
Tdrd1	C	A	19: 56,831,630 (GRCm39)	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,044,762 (GRCm39)	D498G	probably benign	Het
Tpgs2	A	G	18: 25,282,242 (GRCm39)	L103P	probably damaging	Het
Trip10	A	G	17: 57,568,633 (GRCm39)		probably null	Het
Trip6	A	T	5: 137,310,436 (GRCm39)	H269Q	probably benign	Het
Trmt12	T	C	15: 58,744,743 (GRCm39)	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,654,691 (GRCm39)	S1416T	probably benign	Het
Tsks	G	A	7: 44,603,883 (GRCm39)	A438T	probably benign	Het
Ttn	T	C	2: 76,727,630 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,155 (GRCm39)	V136M	possibly damaging	Het
Uty	A	C	Y: 1,197,223 (GRCm39)	Y115D	probably damaging	Het
Vcan	A	G	13: 89,839,380 (GRCm39)	S2055P	probably damaging	Het
Yes1	A	G	5: 32,842,039 (GRCm39)	Q521R	possibly damaging	Het
Zfp114	A	T	7: 23,880,685 (GRCm39)	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,420,532 (GRCm39)	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,747,834 (GRCm39)	Y430N	probably damaging	Het

Other mutations in Mybpc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Mybpc3	APN	2	90,950,374 (GRCm39)	missense	probably benign
IGL00985:Mybpc3	APN	2	90,965,704 (GRCm39)	missense	probably benign	0.16
IGL01926:Mybpc3	APN	2	90,965,752 (GRCm39)	missense	possibly damaging	0.61
IGL02135:Mybpc3	APN	2	90,955,171 (GRCm39)	missense	possibly damaging	0.58
IGL02187:Mybpc3	APN	2	90,965,797 (GRCm39)	missense	probably benign
IGL02219:Mybpc3	APN	2	90,951,368 (GRCm39)	critical splice acceptor site	probably null
IGL02752:Mybpc3	APN	2	90,962,982 (GRCm39)	critical splice acceptor site	probably null
IGL03002:Mybpc3	APN	2	90,954,234 (GRCm39)	missense	probably damaging	1.00
IGL03118:Mybpc3	APN	2	90,954,848 (GRCm39)	missense	probably damaging	1.00
IGL03238:Mybpc3	APN	2	90,962,004 (GRCm39)	missense	probably damaging	1.00
amanitin	UTSW	2	90,948,524 (GRCm39)	missense	probably null	0.98
fungus	UTSW	2	90,954,306 (GRCm39)	missense	possibly damaging	0.87
R0010:Mybpc3	UTSW	2	90,965,178 (GRCm39)	nonsense	probably null
R0114:Mybpc3	UTSW	2	90,954,839 (GRCm39)	missense	probably damaging	1.00
R0282:Mybpc3	UTSW	2	90,954,369 (GRCm39)	splice site	probably benign
R0673:Mybpc3	UTSW	2	90,950,772 (GRCm39)	missense	probably damaging	1.00
R1388:Mybpc3	UTSW	2	90,953,219 (GRCm39)	missense	probably benign	0.43
R2159:Mybpc3	UTSW	2	90,955,715 (GRCm39)	missense	probably damaging	1.00
R2424:Mybpc3	UTSW	2	90,966,138 (GRCm39)	missense	probably benign	0.20
R3983:Mybpc3	UTSW	2	90,965,714 (GRCm39)	missense	probably benign
R4322:Mybpc3	UTSW	2	90,954,306 (GRCm39)	missense	possibly damaging	0.87
R4909:Mybpc3	UTSW	2	90,965,157 (GRCm39)	missense	probably benign
R4913:Mybpc3	UTSW	2	90,956,609 (GRCm39)	missense	possibly damaging	0.46
R4965:Mybpc3	UTSW	2	90,949,592 (GRCm39)	missense	possibly damaging	0.50
R5248:Mybpc3	UTSW	2	90,955,573 (GRCm39)	splice site	probably null
R5311:Mybpc3	UTSW	2	90,959,023 (GRCm39)	nonsense	probably null
R5332:Mybpc3	UTSW	2	90,953,283 (GRCm39)	missense	probably damaging	1.00
R5635:Mybpc3	UTSW	2	90,965,174 (GRCm39)	missense	probably benign	0.00
R5647:Mybpc3	UTSW	2	90,952,067 (GRCm39)	splice site	probably null
R5698:Mybpc3	UTSW	2	90,955,194 (GRCm39)	missense	possibly damaging	0.85
R5832:Mybpc3	UTSW	2	90,949,520 (GRCm39)	splice site	probably null
R5895:Mybpc3	UTSW	2	90,955,010 (GRCm39)	missense	probably damaging	0.99
R6833:Mybpc3	UTSW	2	90,955,773 (GRCm39)	splice site	probably null
R7061:Mybpc3	UTSW	2	90,955,749 (GRCm39)	missense	possibly damaging	0.93
R7144:Mybpc3	UTSW	2	90,964,949 (GRCm39)	missense	probably benign	0.03
R7169:Mybpc3	UTSW	2	90,948,524 (GRCm39)	missense	possibly damaging	0.85
R7472:Mybpc3	UTSW	2	90,962,001 (GRCm39)	missense	probably damaging	1.00
R7538:Mybpc3	UTSW	2	90,950,832 (GRCm39)	missense	probably damaging	1.00
R7677:Mybpc3	UTSW	2	90,959,376 (GRCm39)	missense	probably benign	0.04
R7955:Mybpc3	UTSW	2	90,956,401 (GRCm39)	splice site	probably null
R8290:Mybpc3	UTSW	2	90,951,473 (GRCm39)	missense	probably benign	0.00
R8486:Mybpc3	UTSW	2	90,959,117 (GRCm39)	missense	probably damaging	1.00
R8821:Mybpc3	UTSW	2	90,948,524 (GRCm39)	missense	probably null	0.98
R8885:Mybpc3	UTSW	2	90,954,237 (GRCm39)	missense	probably benign
R8938:Mybpc3	UTSW	2	90,954,294 (GRCm39)	missense	probably damaging	1.00
R9420:Mybpc3	UTSW	2	90,965,478 (GRCm39)	nonsense	probably null
R9581:Mybpc3	UTSW	2	90,949,616 (GRCm39)	missense	probably benign
Z1088:Mybpc3	UTSW	2	90,965,704 (GRCm39)	missense	probably benign	0.16
Z1176:Mybpc3	UTSW	2	90,950,748 (GRCm39)	missense	possibly damaging	0.85
Z1177:Mybpc3	UTSW	2	90,954,309 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATGGGGAATATCCCAGGACAGACC -3'
(R):5'- TGCCTGCACATGACCATGATAGAAG -3'

Sequencing Primer
(F):5'- CAAAAGCCTTCTTTTCAGGGTCAG -3'
(R):5'- AGCTGGTATGGCTGAACATTTC -3'

Posted On

2013-04-16