Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00964:Mybpc1'

28401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mybpc1

Ensembl Gene

ENSMUSG00000020061

Gene Name

myosin binding protein C, slow-type

Synonyms

Slow-type C-protein, 8030451F13Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

IGL00964

Quality Score

Status

Chromosome

Chromosomal Location

88354141-88441014 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 88391604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119185] [ENSMUST00000121629]

AlphaFold

A0A571BEN1

Predicted Effect

probably null
Transcript: ENSMUST00000119185

SMART Domains

Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061

Domain	Start	End	E-Value	Type
IG	51	147	1.96e-6	SMART
low complexity region	221	233	N/A	INTRINSIC
IG	246	325	4.53e-2	SMART
IG	335	416	1.13e-2	SMART
IG	426	506	6.97e-3	SMART
IG	519	604	2.83e-3	SMART
FN3	607	690	4.28e-10	SMART
FN3	705	788	1.49e-9	SMART
low complexity region	800	812	N/A	INTRINSIC
IG	815	898	9.06e-2	SMART
FN3	901	983	2.06e-12	SMART
IGc2	1028	1095	1.88e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000121629

SMART Domains

Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
IG	65	161	1.96e-6	SMART
low complexity region	235	247	N/A	INTRINSIC
IG	260	339	4.53e-2	SMART
IG	349	430	1.13e-2	SMART
IG	440	520	6.97e-3	SMART
IG	533	618	2.83e-3	SMART
FN3	621	704	4.28e-10	SMART
FN3	719	802	1.49e-9	SMART
low complexity region	814	826	N/A	INTRINSIC
IG	829	912	9.06e-2	SMART
FN3	915	997	2.06e-12	SMART
IGc2	1042	1109	1.88e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156573

SMART Domains

Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061

Domain	Start	End	E-Value	Type
PDB:1X44\|A	2	58	1e-26	PDB
IG	66	146	6.97e-3	SMART
IG	159	244	2.83e-3	SMART
FN3	247	330	4.28e-10	SMART
FN3	345	446	1.6e-9	SMART
low complexity region	458	470	N/A	INTRINSIC
IG	473	556	9.06e-2	SMART
FN3	559	617	8.17e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	T	A	7: 44,009,610 (GRCm39)	*197C	probably null	Het
Acsl6	A	G	11: 54,216,472 (GRCm39)	Y213C	probably damaging	Het
Agt	T	C	8: 125,284,634 (GRCm39)		probably benign	Het
Aifm3	A	G	16: 17,318,228 (GRCm39)	D144G	probably damaging	Het
Alad	T	C	4: 62,432,330 (GRCm39)	I32V	probably benign	Het
Astn2	T	A	4: 66,103,424 (GRCm39)	M330L	unknown	Het
AU040320	T	A	4: 126,748,199 (GRCm39)	C1029*	probably null	Het
Brca2	T	A	5: 150,455,775 (GRCm39)	I172N	probably damaging	Het
Brme1	T	C	8: 84,893,343 (GRCm39)	I170T	probably benign	Het
Cdk5rap3	A	G	11: 96,800,765 (GRCm39)		probably null	Het
Dusp26	G	T	8: 31,584,136 (GRCm39)	R81L	probably benign	Het
Dync2h1	T	C	9: 7,174,881 (GRCm39)		probably benign	Het
Ehd4	A	G	2: 119,958,163 (GRCm39)	C141R	probably benign	Het
Ftsj3	G	T	11: 106,143,941 (GRCm39)	A261D	probably benign	Het
Gm5431	G	A	11: 48,780,094 (GRCm39)	T554I	probably damaging	Het
Hyls1	A	G	9: 35,473,408 (GRCm39)		probably benign	Het
Ifi213	T	A	1: 173,421,518 (GRCm39)	T124S	possibly damaging	Het
Ints10	T	A	8: 69,264,638 (GRCm39)	I457N	probably damaging	Het
Klk1b1	T	G	7: 43,620,593 (GRCm39)	S228A	possibly damaging	Het
Lpar2	T	C	8: 70,279,162 (GRCm39)	S319P	probably benign	Het
Lsr	T	C	7: 30,671,421 (GRCm39)	N104S	probably damaging	Het
Nalcn	T	A	14: 123,532,796 (GRCm39)		probably benign	Het
Ovol2	G	A	2: 144,147,599 (GRCm39)	A217V	probably damaging	Het
Pcdh12	T	A	18: 38,415,784 (GRCm39)	Q447L	probably benign	Het
Pdgfra	T	C	5: 75,335,726 (GRCm39)	I453T	probably damaging	Het
Ptprd	C	T	4: 75,916,793 (GRCm39)	W1037*	probably null	Het
Rabgef1	T	C	5: 130,219,863 (GRCm39)	S109P	probably damaging	Het
Rev3l	T	C	10: 39,740,802 (GRCm39)	I2995T	probably benign	Het
Slamf6	T	A	1: 171,745,347 (GRCm39)	C25S	probably null	Het
Slc28a2b	A	T	2: 122,347,527 (GRCm39)	Q229H	probably damaging	Het
Sorbs2	A	C	8: 46,248,714 (GRCm39)	N520T	probably damaging	Het
Spr-ps1	C	A	6: 85,132,016 (GRCm39)		noncoding transcript	Het
Stx4a	A	G	7: 127,441,898 (GRCm39)	Q92R	probably benign	Het
Tab2	A	C	10: 7,785,837 (GRCm39)	V638G	probably benign	Het
Trim41	C	A	11: 48,703,190 (GRCm39)	R79S	possibly damaging	Het
Ttll5	A	G	12: 85,896,057 (GRCm39)	Y135C	possibly damaging	Het
Zan	T	C	5: 137,404,203 (GRCm39)		probably benign	Het
Zdhhc14	T	A	17: 5,762,756 (GRCm39)	L220Q	probably damaging	Het

Other mutations in Mybpc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Mybpc1	APN	10	88,385,124 (GRCm39)	missense	probably damaging	0.98
IGL00577:Mybpc1	APN	10	88,372,246 (GRCm39)	missense	probably damaging	1.00
IGL00703:Mybpc1	APN	10	88,360,970 (GRCm39)	splice site	probably null
IGL01738:Mybpc1	APN	10	88,406,507 (GRCm39)	missense	probably damaging	1.00
IGL01978:Mybpc1	APN	10	88,367,632 (GRCm39)	missense	probably damaging	1.00
IGL02255:Mybpc1	APN	10	88,372,290 (GRCm39)	missense	probably damaging	1.00
IGL02997:Mybpc1	APN	10	88,362,235 (GRCm39)	missense	probably damaging	1.00
R0098:Mybpc1	UTSW	10	88,365,426 (GRCm39)	missense	probably benign	0.02
R0240:Mybpc1	UTSW	10	88,391,600 (GRCm39)	missense	possibly damaging	0.59
R0240:Mybpc1	UTSW	10	88,391,600 (GRCm39)	missense	possibly damaging	0.59
R0449:Mybpc1	UTSW	10	88,376,822 (GRCm39)	missense	probably damaging	1.00
R0879:Mybpc1	UTSW	10	88,407,378 (GRCm39)	splice site	probably benign
R1321:Mybpc1	UTSW	10	88,406,463 (GRCm39)	missense	probably damaging	1.00
R1321:Mybpc1	UTSW	10	88,365,403 (GRCm39)	missense	possibly damaging	0.85
R1562:Mybpc1	UTSW	10	88,389,193 (GRCm39)	missense	probably damaging	1.00
R1783:Mybpc1	UTSW	10	88,406,430 (GRCm39)	missense	probably damaging	1.00
R1803:Mybpc1	UTSW	10	88,389,157 (GRCm39)	missense	possibly damaging	0.65
R1962:Mybpc1	UTSW	10	88,384,688 (GRCm39)	missense	probably damaging	1.00
R1972:Mybpc1	UTSW	10	88,387,404 (GRCm39)	missense	probably benign	0.00
R2006:Mybpc1	UTSW	10	88,381,921 (GRCm39)	missense	probably damaging	0.99
R2125:Mybpc1	UTSW	10	88,409,299 (GRCm39)	nonsense	probably null
R2129:Mybpc1	UTSW	10	88,387,314 (GRCm39)	missense	probably damaging	1.00
R2163:Mybpc1	UTSW	10	88,376,804 (GRCm39)	splice site	probably benign
R2200:Mybpc1	UTSW	10	88,391,557 (GRCm39)	missense	probably damaging	1.00
R2219:Mybpc1	UTSW	10	88,391,540 (GRCm39)	missense	probably damaging	1.00
R2270:Mybpc1	UTSW	10	88,387,269 (GRCm39)	missense	probably benign	0.01
R2961:Mybpc1	UTSW	10	88,367,641 (GRCm39)	missense	probably damaging	1.00
R3767:Mybpc1	UTSW	10	88,406,521 (GRCm39)	splice site	probably null
R4032:Mybpc1	UTSW	10	88,365,426 (GRCm39)	missense	probably benign	0.02
R4226:Mybpc1	UTSW	10	88,409,387 (GRCm39)	nonsense	probably null
R4821:Mybpc1	UTSW	10	88,384,727 (GRCm39)	missense	probably damaging	0.98
R4876:Mybpc1	UTSW	10	88,372,286 (GRCm39)	missense	probably benign	0.03
R4876:Mybpc1	UTSW	10	88,358,853 (GRCm39)	missense	probably benign
R4878:Mybpc1	UTSW	10	88,387,292 (GRCm39)	missense	possibly damaging	0.95
R4910:Mybpc1	UTSW	10	88,391,586 (GRCm39)	nonsense	probably null
R4913:Mybpc1	UTSW	10	88,389,116 (GRCm39)	critical splice donor site	probably null
R4964:Mybpc1	UTSW	10	88,391,525 (GRCm39)	missense	probably benign	0.31
R5023:Mybpc1	UTSW	10	88,379,636 (GRCm39)	missense	probably damaging	1.00
R5098:Mybpc1	UTSW	10	88,381,926 (GRCm39)	missense	probably damaging	1.00
R5196:Mybpc1	UTSW	10	88,372,213 (GRCm39)	missense	probably damaging	0.97
R5344:Mybpc1	UTSW	10	88,406,430 (GRCm39)	missense	probably damaging	1.00
R5399:Mybpc1	UTSW	10	88,358,876 (GRCm39)	missense	probably damaging	1.00
R5538:Mybpc1	UTSW	10	88,381,891 (GRCm39)	missense	possibly damaging	0.89
R5808:Mybpc1	UTSW	10	88,406,428 (GRCm39)	missense	possibly damaging	0.83
R5970:Mybpc1	UTSW	10	88,378,318 (GRCm39)	missense	probably damaging	1.00
R6324:Mybpc1	UTSW	10	88,404,481 (GRCm39)	missense	possibly damaging	0.56
R6433:Mybpc1	UTSW	10	88,396,217 (GRCm39)	missense	probably damaging	1.00
R6441:Mybpc1	UTSW	10	88,389,139 (GRCm39)	missense	probably benign	0.09
R6648:Mybpc1	UTSW	10	88,358,861 (GRCm39)	missense	probably damaging	0.96
R6844:Mybpc1	UTSW	10	88,372,243 (GRCm39)	missense	possibly damaging	0.50
R6931:Mybpc1	UTSW	10	88,378,192 (GRCm39)	nonsense	probably null
R6972:Mybpc1	UTSW	10	88,396,223 (GRCm39)	missense	possibly damaging	0.50
R6973:Mybpc1	UTSW	10	88,396,223 (GRCm39)	missense	possibly damaging	0.50
R6978:Mybpc1	UTSW	10	88,358,886 (GRCm39)	missense	probably damaging	1.00
R7007:Mybpc1	UTSW	10	88,389,274 (GRCm39)	missense	probably damaging	1.00
R7019:Mybpc1	UTSW	10	88,379,581 (GRCm39)	missense	probably damaging	1.00
R7407:Mybpc1	UTSW	10	88,385,209 (GRCm39)	missense	probably damaging	0.99
R7442:Mybpc1	UTSW	10	88,362,155 (GRCm39)	missense	probably damaging	1.00
R7577:Mybpc1	UTSW	10	88,385,187 (GRCm39)	missense	probably damaging	1.00
R7660:Mybpc1	UTSW	10	88,384,716 (GRCm39)	missense	possibly damaging	0.51
R7768:Mybpc1	UTSW	10	88,378,234 (GRCm39)	missense	probably damaging	1.00
R7818:Mybpc1	UTSW	10	88,394,529 (GRCm39)	missense	probably damaging	1.00
R8171:Mybpc1	UTSW	10	88,358,865 (GRCm39)	missense	probably damaging	1.00
R8195:Mybpc1	UTSW	10	88,394,553 (GRCm39)	missense	possibly damaging	0.47
R8241:Mybpc1	UTSW	10	88,372,286 (GRCm39)	missense	probably benign	0.03
R8360:Mybpc1	UTSW	10	88,409,359 (GRCm39)	nonsense	probably null
R8494:Mybpc1	UTSW	10	88,362,291 (GRCm39)	missense	probably benign	0.01
R8849:Mybpc1	UTSW	10	88,407,447 (GRCm39)	missense	probably benign	0.01
R8936:Mybpc1	UTSW	10	88,394,437 (GRCm39)	missense	probably benign	0.44
R9031:Mybpc1	UTSW	10	88,358,906 (GRCm39)	missense	probably damaging	0.99
R9061:Mybpc1	UTSW	10	88,391,501 (GRCm39)	missense	probably damaging	1.00
R9081:Mybpc1	UTSW	10	88,389,168 (GRCm39)	missense	probably damaging	1.00
R9172:Mybpc1	UTSW	10	88,379,615 (GRCm39)	missense	possibly damaging	0.93
R9323:Mybpc1	UTSW	10	88,360,829 (GRCm39)	critical splice donor site	probably null
R9460:Mybpc1	UTSW	10	88,372,197 (GRCm39)	missense	probably damaging	0.99
R9488:Mybpc1	UTSW	10	88,379,624 (GRCm39)	missense	possibly damaging	0.47
R9757:Mybpc1	UTSW	10	88,372,257 (GRCm39)	missense	probably damaging	1.00
R9796:Mybpc1	UTSW	10	88,406,497 (GRCm39)	missense	possibly damaging	0.56
Z1176:Mybpc1	UTSW	10	88,396,189 (GRCm39)	missense	probably benign
Z1177:Mybpc1	UTSW	10	88,409,299 (GRCm39)	missense	probably benign	0.00

Posted On

2013-04-17