Mutagenetix > Incidental Mutation

Incidental Mutation 'R0094:Mybpc2'

17023

Institutional Source

Beutler Lab

Gene Symbol

Mybpc2

Ensembl Gene

ENSMUSG00000038670

Gene Name

myosin binding protein C, fast-type

Synonyms

Fast-type C-protein

MMRRC Submission

038380-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0094 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44151123-44174080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44166328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 221 (Y221H)

Ref Sequence

ENSEMBL: ENSMUSP00000130127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165208]

AlphaFold

Q5XKE0

PDB Structure

Solution structure of the fibronectin type-III domain of mouse myosin-binding protein C, Fast-type homolog [SOLUTION NMR]
Solution structure of the Ig-like domain(433- 525) of murine myosin-binding protein C, fast-type [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000165208
AA Change: Y221H

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

SMART Domains

Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: Y221H

Domain	Start	End	E-Value	Type
low complexity region	2	37	N/A	INTRINSIC
IG	54	150	6.26e-5	SMART
PDB:2LHU\|A	160	236	7e-9	PDB
low complexity region	237	252	N/A	INTRINSIC
IG	258	337	5.21e-2	SMART
IG	347	430	1.2e-1	SMART
IG	440	526	2.72e-5	SMART
IG	546	631	1.68e-5	SMART
FN3	634	717	3.29e-11	SMART
FN3	732	815	1.23e-10	SMART
IG	842	925	6.07e-3	SMART
FN3	928	1010	2.08e-8	SMART
IGc2	1055	1122	6.91e-7	SMART

Meta Mutation Damage Score

0.2157

Coding Region Coverage

1x: 84.5%
3x: 75.9%
10x: 43.5%
20x: 12.9%

Validation Efficiency

86% (51/59)

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. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,203,427 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,260,236 (GRCm39)		noncoding transcript	Het
4931429L15Rik	T	A	9: 46,218,184 (GRCm39)	T185S	possibly damaging	Het
Ahnak	T	A	19: 8,991,257 (GRCm39)	D4180E	probably benign	Het
Amotl1	A	G	9: 14,486,683 (GRCm39)	S441P	probably benign	Het
Ankrd12	A	T	17: 66,277,171 (GRCm39)	D2034E	probably damaging	Het
B3gnt2	T	C	11: 22,786,655 (GRCm39)	R178G	probably damaging	Het
Colgalt1	T	C	8: 72,075,802 (GRCm39)	V483A	probably damaging	Het
Ctsj	A	C	13: 61,151,519 (GRCm39)		probably null	Het
Dap3	T	A	3: 88,834,335 (GRCm39)	M294L	probably benign	Het
Ddias	T	C	7: 92,509,108 (GRCm39)	N269S	possibly damaging	Het
Dsg2	A	T	18: 20,724,910 (GRCm39)	T439S	probably benign	Het
Eif2b1	A	G	5: 124,709,829 (GRCm39)	F250L	probably benign	Het
Emc1	T	A	4: 139,087,796 (GRCm39)	F100Y	probably damaging	Het
Hfm1	T	A	5: 107,065,344 (GRCm39)	M112L	probably benign	Het
Lipg	T	C	18: 75,078,917 (GRCm39)	Y445C	probably benign	Het
Lrp1b	T	C	2: 41,172,042 (GRCm39)		probably benign	Het
Ltbp2	A	G	12: 84,846,200 (GRCm39)	Y897H	probably damaging	Het
Mfap5	G	A	6: 122,502,951 (GRCm39)	V54I	probably damaging	Het
Mvd	C	T	8: 123,166,442 (GRCm39)	R65H	probably benign	Het
Nbeal1	T	A	1: 60,344,468 (GRCm39)	I2323N	possibly damaging	Het
Or14c40	A	G	7: 86,313,502 (GRCm39)	S211G	probably benign	Het
Otol1	G	A	3: 69,926,016 (GRCm39)	A64T	probably benign	Het
Pcdh8	G	T	14: 80,005,588 (GRCm39)	D933E	probably damaging	Het
Pkd1	A	G	17: 24,800,250 (GRCm39)	T3004A	possibly damaging	Het
Pkhd1	T	A	1: 20,279,470 (GRCm39)	R2949S	probably damaging	Het
Ptpro	T	C	6: 137,363,350 (GRCm39)	Y495H	probably benign	Het
Rad54b	T	C	4: 11,599,681 (GRCm39)	V72A	possibly damaging	Het
Ranbp3	A	G	17: 57,016,338 (GRCm39)		probably benign	Het
Rpa2	T	C	4: 132,497,893 (GRCm39)	S52P	probably damaging	Het
Serping1	T	G	2: 84,603,620 (GRCm39)	R140S	probably benign	Het
Slc34a2	T	C	5: 53,221,310 (GRCm39)	F252S	probably benign	Het
Spata45	A	G	1: 190,772,059 (GRCm39)		probably benign	Het
Sptan1	T	C	2: 29,896,635 (GRCm39)	S1174P	probably benign	Het
Ss18l2	T	C	9: 121,541,699 (GRCm39)	L64P	probably benign	Het
Tmem81	A	G	1: 132,435,787 (GRCm39)	I198V	probably benign	Het
Trappc9	A	T	15: 72,894,929 (GRCm38)		probably benign	Het
Ubr3	C	T	2: 69,781,706 (GRCm39)	T628I	probably damaging	Het
Zzef1	C	T	11: 72,708,791 (GRCm39)	T130I	probably benign	Het

Other mutations in Mybpc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Mybpc2	APN	7	44,154,829 (GRCm39)	unclassified	probably benign
IGL00586:Mybpc2	APN	7	44,154,806 (GRCm39)	missense	probably damaging	0.96
IGL00976:Mybpc2	APN	7	44,171,741 (GRCm39)	splice site	probably null
IGL01099:Mybpc2	APN	7	44,165,591 (GRCm39)	missense	probably damaging	0.99
IGL01348:Mybpc2	APN	7	44,165,352 (GRCm39)	missense	probably benign
IGL01625:Mybpc2	APN	7	44,166,337 (GRCm39)	missense	possibly damaging	0.65
IGL01733:Mybpc2	APN	7	44,155,622 (GRCm39)	missense	probably benign	0.03
IGL01946:Mybpc2	APN	7	44,159,322 (GRCm39)	unclassified	probably benign
IGL02078:Mybpc2	APN	7	44,153,204 (GRCm39)	missense	probably damaging	1.00
IGL02314:Mybpc2	APN	7	44,171,812 (GRCm39)	missense	possibly damaging	0.82
IGL02341:Mybpc2	APN	7	44,164,354 (GRCm39)	missense	probably benign	0.00
IGL02904:Mybpc2	APN	7	44,171,765 (GRCm39)	missense	probably benign	0.05
IGL03034:Mybpc2	APN	7	44,161,321 (GRCm39)	missense	possibly damaging	0.87
IGL03296:Mybpc2	APN	7	44,156,308 (GRCm39)	missense	probably damaging	1.00
R0329:Mybpc2	UTSW	7	44,158,453 (GRCm39)	missense	possibly damaging	0.94
R0330:Mybpc2	UTSW	7	44,158,453 (GRCm39)	missense	possibly damaging	0.94
R0336:Mybpc2	UTSW	7	44,155,040 (GRCm39)	missense	probably damaging	1.00
R0503:Mybpc2	UTSW	7	44,161,994 (GRCm39)	unclassified	probably benign
R0821:Mybpc2	UTSW	7	44,156,311 (GRCm39)	missense	probably benign	0.02
R0822:Mybpc2	UTSW	7	44,156,311 (GRCm39)	missense	probably benign	0.02
R0823:Mybpc2	UTSW	7	44,156,311 (GRCm39)	missense	probably benign	0.02
R0854:Mybpc2	UTSW	7	44,166,426 (GRCm39)	missense	probably benign	0.06
R0938:Mybpc2	UTSW	7	44,156,311 (GRCm39)	missense	probably benign	0.02
R0939:Mybpc2	UTSW	7	44,156,311 (GRCm39)	missense	probably benign	0.02
R0940:Mybpc2	UTSW	7	44,156,311 (GRCm39)	missense	probably benign	0.02
R0941:Mybpc2	UTSW	7	44,156,311 (GRCm39)	missense	probably benign	0.02
R1166:Mybpc2	UTSW	7	44,154,449 (GRCm39)	missense	possibly damaging	0.84
R1219:Mybpc2	UTSW	7	44,165,458 (GRCm39)	splice site	probably null
R1559:Mybpc2	UTSW	7	44,163,111 (GRCm39)	missense	probably benign	0.01
R1732:Mybpc2	UTSW	7	44,163,099 (GRCm39)	missense	probably benign
R1802:Mybpc2	UTSW	7	44,161,894 (GRCm39)	missense	possibly damaging	0.81
R2157:Mybpc2	UTSW	7	44,159,269 (GRCm39)	missense	possibly damaging	0.93
R2216:Mybpc2	UTSW	7	44,161,924 (GRCm39)	splice site	probably null
R2406:Mybpc2	UTSW	7	44,171,149 (GRCm39)	missense	possibly damaging	0.62
R2411:Mybpc2	UTSW	7	44,155,662 (GRCm39)	missense	probably damaging	1.00
R3079:Mybpc2	UTSW	7	44,155,505 (GRCm39)	missense	probably damaging	1.00
R4663:Mybpc2	UTSW	7	44,155,066 (GRCm39)	missense	probably damaging	0.99
R4736:Mybpc2	UTSW	7	44,161,971 (GRCm39)	missense	probably damaging	1.00
R5316:Mybpc2	UTSW	7	44,169,806 (GRCm39)	nonsense	probably null
R5426:Mybpc2	UTSW	7	44,159,253 (GRCm39)	missense	probably benign	0.01
R5498:Mybpc2	UTSW	7	44,165,689 (GRCm39)	missense	probably damaging	1.00
R5539:Mybpc2	UTSW	7	44,164,317 (GRCm39)	missense	probably benign	0.17
R5644:Mybpc2	UTSW	7	44,156,477 (GRCm39)	missense	probably benign	0.13
R5909:Mybpc2	UTSW	7	44,156,515 (GRCm39)	missense	probably damaging	1.00
R6435:Mybpc2	UTSW	7	44,155,481 (GRCm39)	missense	possibly damaging	0.73
R6662:Mybpc2	UTSW	7	44,155,590 (GRCm39)	missense	probably benign
R6901:Mybpc2	UTSW	7	44,154,779 (GRCm39)	missense	probably damaging	0.99
R7188:Mybpc2	UTSW	7	44,155,617 (GRCm39)	missense	probably benign	0.06
R7389:Mybpc2	UTSW	7	44,155,028 (GRCm39)	missense	probably benign	0.11
R7405:Mybpc2	UTSW	7	44,156,618 (GRCm39)	missense	probably damaging	1.00
R7553:Mybpc2	UTSW	7	44,155,571 (GRCm39)	missense	possibly damaging	0.51
R7597:Mybpc2	UTSW	7	44,159,223 (GRCm39)	missense	probably damaging	1.00
R7772:Mybpc2	UTSW	7	44,165,348 (GRCm39)	critical splice donor site	probably null
R7824:Mybpc2	UTSW	7	44,154,284 (GRCm39)	splice site	probably null
R8003:Mybpc2	UTSW	7	44,158,488 (GRCm39)	missense	probably damaging	0.99
R8179:Mybpc2	UTSW	7	44,159,254 (GRCm39)	missense	probably benign	0.01
R8187:Mybpc2	UTSW	7	44,161,894 (GRCm39)	missense	possibly damaging	0.81
R8413:Mybpc2	UTSW	7	44,157,729 (GRCm39)	missense	probably damaging	1.00
R8729:Mybpc2	UTSW	7	44,155,611 (GRCm39)	missense	probably damaging	1.00
R8830:Mybpc2	UTSW	7	44,161,965 (GRCm39)	missense	probably damaging	1.00
R9377:Mybpc2	UTSW	7	44,158,999 (GRCm39)	missense	probably benign	0.22
R9441:Mybpc2	UTSW	7	44,166,330 (GRCm39)	missense	probably null	0.96
X0052:Mybpc2	UTSW	7	44,156,566 (GRCm39)	missense	probably benign	0.23
X0065:Mybpc2	UTSW	7	44,154,809 (GRCm39)	missense	probably benign	0.01
Z1088:Mybpc2	UTSW	7	44,165,927 (GRCm39)	missense	possibly damaging	0.47
Z1176:Mybpc2	UTSW	7	44,171,120 (GRCm39)	missense	probably benign

Posted On

2013-01-20