Mutagenetix > Incidental Mutation

Incidental Mutation 'R5098:Mybpc1'

388134

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

042687-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R5098 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88354141-88441014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88381926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 588 (D588G)

Ref Sequence

ENSEMBL: ENSMUSP00000112615 (fasta)

Gene Model

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

AlphaFold

A0A571BEN1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119185
AA Change: D574G

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: D574G

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: D588G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: D588G

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

unknown
Transcript: ENSMUST00000156573
AA Change: D213G

SMART Domains

Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
AA Change: D213G

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

0.4818

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (54/54)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,847,944 (GRCm39)	I784V	probably benign	Het
Agxt	A	G	1: 93,065,029 (GRCm39)	H146R	probably benign	Het
Art5	A	G	7: 101,747,177 (GRCm39)	F201L	probably damaging	Het
Bcl2a1b	T	A	9: 89,081,432 (GRCm39)	M7K	probably benign	Het
Card10	G	A	15: 78,660,917 (GRCm39)	A1030V	probably benign	Het
Ccdc66	G	A	14: 27,220,750 (GRCm39)	T58M	probably damaging	Het
Cd72	C	T	4: 43,452,610 (GRCm39)	G74R	probably damaging	Het
Cdc27	T	C	11: 104,398,113 (GRCm39)	K749R	probably damaging	Het
Commd3	A	T	2: 18,678,988 (GRCm39)	T102S	possibly damaging	Het
Cyp2f2	A	G	7: 26,829,304 (GRCm39)	T270A	possibly damaging	Het
Dclre1b	A	G	3: 103,716,452 (GRCm39)		probably benign	Het
Dennd1b	T	A	1: 139,061,459 (GRCm39)	D380E	probably damaging	Het
Dhx58	T	C	11: 100,585,999 (GRCm39)	E674G	probably benign	Het
Dnaaf9	A	G	2: 130,640,101 (GRCm39)	S128P	probably damaging	Het
Ecpas	T	C	4: 58,877,048 (GRCm39)	D129G	probably damaging	Het
Exoc5	T	C	14: 49,286,304 (GRCm39)	T108A	possibly damaging	Het
Fat4	T	C	3: 38,942,438 (GRCm39)	S444P	probably benign	Het
Gm3327	A	T	14: 44,362,292 (GRCm39)	I64F	unknown	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpr15	T	A	16: 58,538,890 (GRCm39)	R66S	probably damaging	Het
Hmga1b	T	C	11: 120,654,018 (GRCm39)	S102P	probably benign	Het
Kat6b	G	A	14: 21,669,083 (GRCm39)		probably benign	Het
Kdm1b	A	G	13: 47,216,467 (GRCm39)	Y279C	probably damaging	Het
Krtap9-3	C	A	11: 99,488,816 (GRCm39)	C22F	probably benign	Het
Map3k14	T	A	11: 103,115,185 (GRCm39)	D817V	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t6	A	G	14: 14,175,683 (GRCm38)	V133A	probably benign	Het
Or5g29	A	G	2: 85,420,976 (GRCm39)	I31V	probably benign	Het
Pcdhb20	A	G	18: 37,637,858 (GRCm39)	D128G	probably damaging	Het
Pgap6	A	T	17: 26,337,902 (GRCm39)	N429Y	probably damaging	Het
Ppil6	A	G	10: 41,366,616 (GRCm39)	E47G	probably null	Het
Rad17	A	T	13: 100,754,154 (GRCm39)	*689K	probably null	Het
Scin	A	T	12: 40,127,541 (GRCm39)	Y416*	probably null	Het
Serf1	A	G	13: 100,245,575 (GRCm39)	T18A	probably benign	Het
Sik2	T	C	9: 50,906,891 (GRCm39)		probably benign	Het
Slc39a8	C	A	3: 135,563,918 (GRCm39)	N254K	probably benign	Het
Spint3	A	G	2: 164,411,821 (GRCm39)	F63L	probably damaging	Het
Suox	A	T	10: 128,507,027 (GRCm39)	S334T	probably damaging	Het
Tas2r119	A	G	15: 32,178,228 (GRCm39)	M265V	probably benign	Het
Tmem126b	A	G	7: 90,118,850 (GRCm39)	L146P	probably damaging	Het
Trpc3	G	T	3: 36,717,047 (GRCm39)	D330E	probably benign	Het
Ugt2a2	T	C	5: 87,612,040 (GRCm39)	E290G	possibly damaging	Het
Ugt2b37	T	A	5: 87,390,812 (GRCm39)	T352S	probably damaging	Het
Vmn1r40	T	C	6: 89,691,930 (GRCm39)	V249A	probably damaging	Het
Zc3h18	A	G	8: 123,113,608 (GRCm39)	D200G	probably damaging	Het
Zfp652	T	C	11: 95,643,762 (GRCm39)	V140A	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
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'- CTCCAGTGAGTTCTCTAGATGAG -3'
(R):5'- TGTACAGGTCAGACACTTGGG -3'

Sequencing Primer
(F):5'- TAGTAAAAGAGAGATGCTGGTTGG -3'
(R):5'- TCAGACACTTGGGCCCGC -3'

Posted On

2016-06-06