Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01926:Mybpc3'

180308

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

Essential gene?

Possibly essential (E-score: 0.624) question?

Stock #

IGL01926

Quality Score

Status

Chromosome

Chromosomal Location

90948489-90966861 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90965752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1188 (T1188I)

Ref Sequence

ENSEMBL: ENSMUSP00000127070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066473] [ENSMUST00000075269] [ENSMUST00000077941] [ENSMUST00000099723] [ENSMUST00000099725] [ENSMUST00000111369] [ENSMUST00000111370] [ENSMUST00000111430] [ENSMUST00000137942] [ENSMUST00000111372] [ENSMUST00000111373] [ENSMUST00000111376] [ENSMUST00000111371] [ENSMUST00000111375] [ENSMUST00000111381] [ENSMUST00000169776]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066473

SMART Domains

Protein: ENSMUSP00000069350
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075269

SMART Domains

Protein: ENSMUSP00000074746
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	719	N/A	INTRINSIC
low complexity region	762	770	N/A	INTRINSIC
low complexity region	797	820	N/A	INTRINSIC
low complexity region	889	899	N/A	INTRINSIC
low complexity region	1276	1290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077941

SMART Domains

Protein: ENSMUSP00000077094
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1354	1368	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099723

SMART Domains

Protein: ENSMUSP00000097311
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1189	1203	N/A	INTRINSIC
low complexity region	1353	1367	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099725

SMART Domains

Protein: ENSMUSP00000097313
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111369

SMART Domains

Protein: ENSMUSP00000107000
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	773	796	N/A	INTRINSIC
low complexity region	865	875	N/A	INTRINSIC
low complexity region	1108	1122	N/A	INTRINSIC
low complexity region	1251	1265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111370

SMART Domains

Protein: ENSMUSP00000107001
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111430
AA Change: T1187I

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: T1187I

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
AA Change: T1023I

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: T1023I

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

noncoding transcript
Transcript: ENSMUST00000154028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156368

Predicted Effect

probably benign
Transcript: ENSMUST00000111372

SMART Domains

Protein: ENSMUSP00000107003
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1295	1309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111373

SMART Domains

Protein: ENSMUSP00000107004
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	2.9e-29	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	8.7e-71	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	2.8e-16	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	773	796	N/A	INTRINSIC
low complexity region	865	875	N/A	INTRINSIC
low complexity region	1108	1122	N/A	INTRINSIC
low complexity region	1251	1265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111376

SMART Domains

Protein: ENSMUSP00000107007
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1151	1162	N/A	INTRINSIC
low complexity region	1312	1326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111371

SMART Domains

Protein: ENSMUSP00000107002
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	719	N/A	INTRINSIC
low complexity region	762	770	N/A	INTRINSIC
low complexity region	797	820	N/A	INTRINSIC
low complexity region	909	919	N/A	INTRINSIC
low complexity region	1296	1310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111375

SMART Domains

Protein: ENSMUSP00000107006
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	773	796	N/A	INTRINSIC
low complexity region	885	895	N/A	INTRINSIC
low complexity region	1272	1286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111381

SMART Domains

Protein: ENSMUSP00000107012
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1315	1329	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169776
AA Change: T1188I

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: T1188I

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,026,155 (GRCm39)		probably benign	Het
Ano1	C	T	7: 144,164,612 (GRCm39)	V671M	possibly damaging	Het
Atf7ip2	G	T	16: 10,059,749 (GRCm39)	D430Y	probably damaging	Het
Atp7b	A	T	8: 22,501,797 (GRCm39)	D740E	probably damaging	Het
Bbs1	A	C	19: 4,952,891 (GRCm39)	S191A	probably benign	Het
Capn5	C	T	7: 97,777,679 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,791,099 (GRCm39)	I244T	probably benign	Het
Dsg1a	G	T	18: 20,466,641 (GRCm39)	D504Y	possibly damaging	Het
Eif3a	T	C	19: 60,758,399 (GRCm39)	D793G	unknown	Het
Exoc4	C	A	6: 33,839,077 (GRCm39)	D704E	probably damaging	Het
Fmo5	A	C	3: 97,544,797 (GRCm39)	T109P	probably damaging	Het
Ggt5	A	G	10: 75,439,935 (GRCm39)	I179V	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Irs1	G	T	1: 82,267,680 (GRCm39)	R179S	probably damaging	Het
Jmy	A	T	13: 93,596,294 (GRCm39)	V445E	probably damaging	Het
Jup	C	A	11: 100,274,412 (GRCm39)	V93F	probably benign	Het
Krt20	T	C	11: 99,328,652 (GRCm39)	Y91C	probably damaging	Het
Mug2	T	A	6: 122,013,063 (GRCm39)		probably benign	Het
Myt1	T	C	2: 181,463,790 (GRCm39)	L1032P	probably benign	Het
Naip6	A	T	13: 100,436,704 (GRCm39)	N606K	probably damaging	Het
Nfrkb	A	T	9: 31,325,475 (GRCm39)	M973L	probably benign	Het
Or5aq6	C	T	2: 86,923,318 (GRCm39)	C141Y	probably damaging	Het
Or5b120	A	T	19: 13,480,105 (GRCm39)	T133S	possibly damaging	Het
Parp8	T	C	13: 116,998,838 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,471,642 (GRCm39)	M131K	probably benign	Het
Pomt1	T	A	2: 32,133,484 (GRCm39)	S207T	probably benign	Het
Prlr	T	A	15: 10,314,306 (GRCm39)	M1K	probably null	Het
Prr15	A	G	6: 54,306,490 (GRCm39)	K83E	probably damaging	Het
Rnf4	A	G	5: 34,504,123 (GRCm39)	N5S	probably benign	Het
Sel1l3	T	A	5: 53,357,485 (GRCm39)	H169L	probably benign	Het
Slc24a5	A	G	2: 124,910,823 (GRCm39)	I85V	probably benign	Het
Tmc2	T	C	2: 130,102,160 (GRCm39)	I775T	possibly damaging	Het
Trnau1ap	A	T	4: 132,046,873 (GRCm39)	F141L	probably benign	Het
Zscan4d	A	G	7: 10,898,921 (GRCm39)	C119R	probably damaging	Het
Zswim9	A	T	7: 12,994,248 (GRCm39)	V636D	possibly 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
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
R0139:Mybpc3	UTSW	2	90,950,682 (GRCm39)	splice site	probably benign
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

Posted On

2014-05-07