Mutagenetix > Incidental Mutation

Incidental Mutation 'R8360:Mybpc1'

652157

Institutional Source

Beutler Lab

Gene Symbol

Mybpc1

Ensembl Gene

ENSMUSG00000020061

Gene Name

myosin binding protein C, slow-type

Synonyms

Slow-type C-protein, 8030451F13Rik

MMRRC Submission

067734-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.837) question?

Stock #

R8360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88354141-88441014 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 88409359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 32 (E32*)

Ref Sequence

ENSEMBL: ENSMUSP00000112699 (fasta)

Gene Model

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

AlphaFold

A0A571BEN1

Predicted Effect

probably null
Transcript: ENSMUST00000119185
AA Change: E32*

SMART Domains

Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: E32*

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
AA Change: E46*

SMART Domains

Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: E46*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

96% (43/45)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	C	T	19: 21,655,888 (GRCm39)	Q57*	probably null	Het
Acad8	C	T	9: 26,890,352 (GRCm39)	A288T	possibly damaging	Het
Adamtsl3	G	A	7: 82,197,187 (GRCm39)	C711Y	probably damaging	Het
Ahcyl2	C	A	6: 29,768,869 (GRCm39)	D111E	probably benign	Het
Asxl3	T	C	18: 22,649,174 (GRCm39)	F388L	probably benign	Het
Bcr	T	A	10: 74,981,271 (GRCm39)	S697T	probably damaging	Het
Catspere2	G	A	1: 177,842,724 (GRCm39)	V50M	possibly damaging	Het
Dgka	C	A	10: 128,563,997 (GRCm39)	V451F	probably damaging	Het
Dnajc2	A	T	5: 21,962,705 (GRCm39)	C617S	unknown	Het
Erich3	C	A	3: 154,469,991 (GRCm39)	T1481K	unknown	Het
Golm2	A	T	2: 121,697,632 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,874,059 (GRCm39)	D396E	probably benign	Het
Hmgcs2	A	T	3: 98,204,724 (GRCm39)	D294V	possibly damaging	Het
Hnf1a	A	G	5: 115,091,391 (GRCm39)	V434A	possibly damaging	Het
Il4ra	T	C	7: 125,169,138 (GRCm39)	L130P	probably damaging	Het
Inpp5j	T	C	11: 3,449,767 (GRCm39)	K672E	probably damaging	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Kif26b	T	C	1: 178,743,938 (GRCm39)	S1345P	probably benign	Het
Lrrc28	A	T	7: 67,290,909 (GRCm39)	D37E	probably benign	Het
Mlx	G	T	11: 100,978,140 (GRCm39)		probably benign	Het
Muc16	T	C	9: 18,436,554 (GRCm39)	H7878R	probably benign	Het
Nebl	C	T	2: 17,465,298 (GRCm39)	V18M	probably benign	Het
Nhsl3	C	T	4: 129,117,995 (GRCm39)	R268Q	possibly damaging	Het
Nlrp3	T	C	11: 59,440,229 (GRCm39)	V602A	probably benign	Het
Npepps	G	A	11: 97,120,665 (GRCm39)	P532S	probably benign	Het
Or7g12	T	A	9: 18,900,139 (GRCm39)	M285K	probably benign	Het
Or8g19	C	T	9: 39,055,761 (GRCm39)	R122*	probably null	Het
Or8k53	T	C	2: 86,177,668 (GRCm39)	I147M	possibly damaging	Het
Pfdn1	G	A	18: 36,584,214 (GRCm39)	T40M	probably benign	Het
Pkd2	G	T	5: 104,607,653 (GRCm39)	E51*	probably null	Het
Prss40	T	A	1: 34,599,876 (GRCm39)	H37L	probably benign	Het
Rab11fip1	A	T	8: 27,642,374 (GRCm39)	C808*	probably null	Het
Rab3gap2	A	T	1: 184,999,270 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,017,232 (GRCm39)	R232H	probably benign	Het
Sbk3	A	G	7: 4,970,707 (GRCm39)	F221L	probably damaging	Het
Sema7a	T	G	9: 57,862,974 (GRCm39)		probably benign	Het
Serpina3b	C	A	12: 104,104,962 (GRCm39)	N379K	probably benign	Het
Ssbp4	A	G	8: 71,052,039 (GRCm39)	L208P	probably benign	Het
Stxbp5	C	T	10: 9,688,003 (GRCm39)		probably null	Het
Tecrl	A	G	5: 83,448,764 (GRCm39)	Y160H	probably damaging	Het
Tnc	T	C	4: 63,885,511 (GRCm39)	I1773V	probably benign	Het
Ush2a	A	G	1: 188,198,468 (GRCm39)	T1511A	probably benign	Het
Utp15	T	C	13: 98,391,499 (GRCm39)	N246S	probably damaging	Het
Vmn1r49	C	T	6: 90,049,991 (GRCm39)	A4T	probably benign	Het
Vmn2r57	A	T	7: 41,049,640 (GRCm39)	I703N	probably damaging	Het
Wdr93	A	G	7: 79,398,974 (GRCm39)	D36G	probably damaging	Het
Zfp334	A	G	2: 165,225,278 (GRCm39)	I8T	probably benign	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
IGL00964:Mybpc1	APN	10	88,391,604 (GRCm39)	critical splice acceptor 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
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

Predicted Primers

PCR Primer
(F):5'- GAAGAATGGTCTCATGGCTACAG -3'
(R):5'- TGGAAGACCCATCCTGTAAGAATG -3'

Sequencing Primer
(F):5'- ATGGTCTCATGGCTACAGAAGTCTC -3'
(R):5'- GTAAGAATGAGAATCTGTCCCTCTCC -3'

Posted On

2020-10-20