Mutagenetix > Incidental Mutation

Incidental Mutation 'R6844:Mybpc1'

534677

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

044950-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R6844 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88354141-88441014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88372243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 796 (I796F)

Ref Sequence

ENSEMBL: ENSMUSP00000112615 (fasta)

Gene Model

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

AlphaFold

A0A571BEN1

Predicted Effect

probably benign
Transcript: ENSMUST00000119185
AA Change: I782F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: I782F

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

possibly damaging
Transcript: ENSMUST00000121629
AA Change: I796F

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: I796F

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

SMART Domains

Protein: ENSMUSP00000122472
Gene: ENSMUSG00000020061
AA Change: I34F

Domain	Start	End	E-Value	Type
PDB:2YUW\|A	2	52	2e-25	PDB
low complexity region	53	65	N/A	INTRINSIC
IG	68	151	9.06e-2	SMART
FN3	154	236	2.06e-12	SMART
IGc2	281	348	1.88e-8	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
AA Change: I439F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

92% (36/39)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap18	G	A	10: 26,648,682 (GRCm39)	A35T	probably benign	Het
Arhgap21	A	G	2: 20,886,116 (GRCm39)	S354P	probably benign	Het
Casq2	A	T	3: 102,017,578 (GRCm39)	H86L	possibly damaging	Het
Ccdc188	G	A	16: 18,036,074 (GRCm39)	G83E	probably damaging	Het
Cd22	G	T	7: 30,572,856 (GRCm39)		probably null	Het
Cyp2b13	T	A	7: 25,781,122 (GRCm39)	I178N	probably damaging	Het
Cyp4a31	T	A	4: 115,420,989 (GRCm39)	C26S	probably null	Het
Eif3h	T	C	15: 51,728,729 (GRCm39)	D42G	possibly damaging	Het
Elovl4	T	A	9: 83,672,164 (GRCm39)	I52L	probably benign	Het
Fgfbp3	C	A	19: 36,896,280 (GRCm39)	A113S	possibly damaging	Het
Fsip2	A	T	2: 82,813,969 (GRCm39)	K3429N	possibly damaging	Het
Gemin5	T	C	11: 58,054,730 (GRCm39)	D224G	probably benign	Het
Gm3415	T	C	5: 146,494,811 (GRCm39)	I158T	probably benign	Het
Gpr22	C	A	12: 31,759,951 (GRCm39)	R20L	probably benign	Het
Htr1a	A	G	13: 105,581,455 (GRCm39)	K232E	possibly damaging	Het
Itgax	T	A	7: 127,747,106 (GRCm39)		probably null	Het
Jag2	T	C	12: 112,880,334 (GRCm39)	Y310C	probably damaging	Het
Lce1j	A	G	3: 92,696,656 (GRCm39)	S41P	unknown	Het
Mllt10	A	G	2: 18,164,294 (GRCm39)	I197V	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nr2c1	T	A	10: 94,007,029 (GRCm39)	L289*	probably null	Het
Omp	T	A	7: 97,794,283 (GRCm39)	M115L	probably benign	Het
Pdcd1	C	T	1: 93,967,106 (GRCm39)	R264H	probably benign	Het
Plxna2	T	C	1: 194,476,136 (GRCm39)	F1119L	probably benign	Het
Ralyl	A	G	3: 13,841,938 (GRCm39)	T25A	probably damaging	Het
Rapgef4	A	G	2: 72,064,970 (GRCm39)	T656A	probably damaging	Het
Ripor3	C	T	2: 167,835,253 (GRCm39)		probably null	Het
Samd8	T	C	14: 21,825,205 (GRCm39)	S54P	probably damaging	Het
Serpinb9g	A	T	13: 33,670,616 (GRCm39)	I35F	probably damaging	Het
Shisa8	T	C	15: 82,096,310 (GRCm39)	S102G	probably damaging	Het
Slc4a1ap	T	A	5: 31,684,822 (GRCm39)	S153T	probably damaging	Het
Slc4a4	T	A	5: 89,376,831 (GRCm39)	D1028E	probably damaging	Het
Slc6a13	T	A	6: 121,302,012 (GRCm39)	I198N	probably damaging	Het
Sst	C	T	16: 23,708,592 (GRCm39)	D80N	probably benign	Het
Synj2	A	G	17: 6,026,081 (GRCm39)	K47E	probably damaging	Het
Tal1	C	T	4: 114,920,464 (GRCm39)	P46L	probably benign	Het
Top2b	A	T	14: 16,429,383 (GRCm38)	N1541I	possibly damaging	Het
Vps13b	T	A	15: 35,877,736 (GRCm39)	N2903K	probably benign	Het
Zfp949	A	G	9: 88,451,464 (GRCm39)	T345A	possibly damaging	Het
Zmat3	A	G	3: 32,395,644 (GRCm39)	Y288H	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
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
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'- CATTTGGCCTTTGCTGGTAC -3'
(R):5'- AGACCCTGTTCTTTCCAAAGG -3'

Sequencing Primer
(F):5'- TTTGAGAGGGATCCACTAGCC -3'
(R):5'- ACCCTGTTCTTTCCAAAGGATCTAAG -3'

Posted On

2018-09-12