Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00976:Mybpc2'

27933

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mybpc2

Ensembl Gene

ENSMUSG00000038670

Gene Name

myosin binding protein C, fast-type

Synonyms

Fast-type C-protein

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00976

Quality Score

Status

Chromosome

Chromosomal Location

44151123-44174080 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 44171741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035323] [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 benign
Transcript: ENSMUST00000035323

SMART Domains

Protein: ENSMUSP00000035539
Gene: ENSMUSG00000008193

Domain	Start	End	E-Value	Type
low complexity region	50	58	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
ETS	173	261	2.05e-41	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000165208

SMART Domains

Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670

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

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519F16Rik	A	G	X: 102,226,868 (GRCm39)		probably benign	Het
Aldob	C	A	4: 49,541,220 (GRCm39)	V151L	probably damaging	Het
Cacna1i	G	A	15: 80,239,846 (GRCm39)	M298I	probably benign	Het
Capn3	A	G	2: 120,322,382 (GRCm39)	N414S	possibly damaging	Het
Ccdc186	G	A	19: 56,785,932 (GRCm39)	T701M	probably damaging	Het
Ccdc190	A	T	1: 169,761,309 (GRCm39)	H137L	probably benign	Het
Clhc1	G	A	11: 29,511,389 (GRCm39)	D278N	probably benign	Het
Cntnap3	T	C	13: 64,942,166 (GRCm39)	Y188C	probably damaging	Het
Dnah1	A	C	14: 31,000,095 (GRCm39)	V2466G	probably damaging	Het
Dnah8	A	G	17: 31,070,684 (GRCm39)	T4457A	probably damaging	Het
Hectd4	A	G	5: 121,487,169 (GRCm39)	Q3388R	probably benign	Het
Hecw1	T	A	13: 14,493,557 (GRCm39)	D316V	probably damaging	Het
Il1rap	T	C	16: 26,517,589 (GRCm39)	V263A	probably benign	Het
Il6	G	A	5: 30,219,839 (GRCm39)	G72S	probably benign	Het
Katnal2	T	C	18: 77,105,189 (GRCm39)	Y86C	probably damaging	Het
Kdm7a	G	T	6: 39,121,332 (GRCm39)	S874R	possibly damaging	Het
Nphs1	T	G	7: 30,160,110 (GRCm39)	S130A	possibly damaging	Het
Ntrk3	C	T	7: 78,100,701 (GRCm39)	V444I	probably benign	Het
Numbl	T	C	7: 26,968,235 (GRCm39)	V144A	possibly damaging	Het
Or8g33	T	A	9: 39,337,953 (GRCm39)	Y138F	probably benign	Het
P2rx1	T	C	11: 72,903,826 (GRCm39)		probably null	Het
Pcdhb3	G	A	18: 37,436,001 (GRCm39)	V656I	probably benign	Het
Pole	A	G	5: 110,471,438 (GRCm39)	Y1394C	probably benign	Het
Pramel24	T	A	4: 143,453,585 (GRCm39)	M231K	probably damaging	Het
Rbm47	A	G	5: 66,184,081 (GRCm39)	V174A	possibly damaging	Het
Rhox4f	T	C	X: 36,786,048 (GRCm39)		probably benign	Het
Serpina12	T	C	12: 103,998,787 (GRCm39)	Y317C	probably damaging	Het
Slc12a5	T	A	2: 164,821,224 (GRCm39)	I236N	probably damaging	Het
Slc4a4	G	A	5: 89,102,657 (GRCm39)	G32R	probably damaging	Het
Slco1a4	T	C	6: 141,752,908 (GRCm39)		probably null	Het
Sorcs3	A	T	19: 48,755,542 (GRCm39)	N894I	probably damaging	Het
Stk38l	A	G	6: 146,676,900 (GRCm39)	E393G	probably benign	Het
Synpo	A	G	18: 60,736,491 (GRCm39)	I485T	possibly damaging	Het
Tenm3	T	A	8: 48,709,876 (GRCm39)	M1687L	probably benign	Het
Ttc39c	T	C	18: 12,817,952 (GRCm39)		probably benign	Het
Unc13d	T	C	11: 115,961,293 (GRCm39)	E378G	probably damaging	Het
Vmn2r118	T	A	17: 55,900,204 (GRCm39)	N567Y	probably damaging	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
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
R0094:Mybpc2	UTSW	7	44,166,328 (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

2013-04-17