Mutagenetix > Incidental Mutation

Incidental Mutation 'R1321:Mybpc1'

157689

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

039387-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R1321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88354141-88441014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88406463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 127 (Y127F)

Ref Sequence

ENSEMBL: ENSMUSP00000112699 (fasta)

Gene Model

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

AlphaFold

A0A571BEN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000119185
AA Change: Y127F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: Y127F

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 damaging
Transcript: ENSMUST00000121629
AA Change: Y141F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: Y141F

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

Meta Mutation Damage Score

0.4199

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.0%
20x: 89.1%

Validation Efficiency

100% (41/41)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,945,318 (GRCm39)		probably benign	Het
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
C2cd2l	A	G	9: 44,228,878 (GRCm39)		probably null	Het
Cass4	T	A	2: 172,266,572 (GRCm39)	L205Q	probably benign	Het
Ccn3	G	T	15: 54,612,642 (GRCm39)	C217F	probably damaging	Het
Celsr3	G	A	9: 108,713,069 (GRCm39)	D1834N	probably damaging	Het
Col12a1	A	T	9: 79,524,991 (GRCm39)	C2723*	probably null	Het
Cps1	A	G	1: 67,182,178 (GRCm39)		probably benign	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Dppa2	A	G	16: 48,131,999 (GRCm39)	E32G	possibly damaging	Het
Eif2b5	C	T	16: 20,323,439 (GRCm39)	R397*	probably null	Het
Far2	G	T	6: 148,075,034 (GRCm39)		probably benign	Het
Fbxo42	C	T	4: 140,895,160 (GRCm39)	T41I	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Galnt13	G	A	2: 54,988,606 (GRCm39)	R476Q	probably damaging	Het
Galnt18	A	T	7: 111,378,639 (GRCm39)	V39E	probably benign	Het
Gm10801	C	T	2: 98,494,252 (GRCm39)		probably benign	Het
Gm21954	C	T	3: 55,379,627 (GRCm39)		probably benign	Het
Lct	A	C	1: 128,227,759 (GRCm39)	L1245V	probably benign	Het
Lgr5	T	C	10: 115,314,362 (GRCm39)	T192A	probably damaging	Het
Mrpl42	C	T	10: 95,329,573 (GRCm39)	V46M	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Otud4	T	C	8: 80,396,579 (GRCm39)	S613P	probably benign	Het
P2ry12	T	C	3: 59,124,646 (GRCm39)	E343G	possibly damaging	Het
Pbrm1	A	C	14: 30,789,459 (GRCm39)	K670T	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Reg3b	A	G	6: 78,349,936 (GRCm39)		probably null	Het
Sppl3	TGG	TG	5: 115,226,352 (GRCm39)		probably null	Het
Ssr2	T	C	3: 88,484,261 (GRCm39)		probably benign	Het
Syne3	A	C	12: 104,942,055 (GRCm39)	V29G	probably benign	Het
Ubr4	T	C	4: 139,187,434 (GRCm39)	V3834A	possibly damaging	Het
Vmn2r112	C	T	17: 22,837,500 (GRCm39)	Q654*	probably null	Het
Vmn2r14	C	T	5: 109,364,117 (GRCm39)	V600I	probably benign	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly 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
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	88,365,403 (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

Predicted Primers

PCR Primer
(F):5'- AACAGCATCACCCTTCTCTGGGTC -3'
(R):5'- AGCTGTCAGGCACATTCACCCTTC -3'

Sequencing Primer
(F):5'- AGGCTTACTaaatacaacacaatcag -3'
(R):5'- CCTTCATGTCCTGGATAGAGATACAG -3'

Posted On

2014-02-18