Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01946:Mybpc2'

180977

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 #

IGL01946

Quality Score

Status

Chromosome

Chromosomal Location

44151123-44174080 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 44159322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q5XKE0

Predicted Effect

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000207516

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,547,442 (GRCm39)	E343K	possibly damaging	Het
Abcc9	T	C	6: 142,571,763 (GRCm39)	I1087V	probably benign	Het
Bcam	A	C	7: 19,494,042 (GRCm39)	Y416*	probably null	Het
Bhlhe22	T	A	3: 18,109,960 (GRCm39)	C337S	probably damaging	Het
Cerkl	T	C	2: 79,223,364 (GRCm39)	D119G	probably benign	Het
Cog6	T	C	3: 52,909,825 (GRCm39)		probably benign	Het
Dchs1	T	C	7: 105,408,312 (GRCm39)	D1840G	probably damaging	Het
Dhx16	G	T	17: 36,196,396 (GRCm39)	M521I	probably benign	Het
Dnaja2	A	G	8: 86,273,329 (GRCm39)	I196T	probably damaging	Het
Fbxw7	T	C	3: 84,811,369 (GRCm39)	Y165H	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm3371	A	G	14: 44,646,178 (GRCm39)	Y96H	probably damaging	Het
H2-T10	G	A	17: 36,431,608 (GRCm39)	A82V	possibly damaging	Het
Hydin	A	G	8: 111,217,350 (GRCm39)	T1413A	possibly damaging	Het
Krt23	T	A	11: 99,383,665 (GRCm39)	M76L	possibly damaging	Het
Lipe	A	T	7: 25,082,701 (GRCm39)	M504K	possibly damaging	Het
Lrrc37	T	A	11: 103,503,759 (GRCm39)	R560S	probably benign	Het
Lta4h	T	A	10: 93,307,232 (GRCm39)		probably benign	Het
Ltbp2	T	C	12: 84,877,522 (GRCm39)	T348A	probably damaging	Het
Or51r1	T	C	7: 102,227,734 (GRCm39)		probably null	Het
Or52r1b	T	A	7: 102,691,357 (GRCm39)	S219T	probably damaging	Het
Pdp2	G	A	8: 105,320,824 (GRCm39)	M224I	probably benign	Het
Pimreg	C	T	11: 71,935,804 (GRCm39)		probably benign	Het
Pld1	A	T	3: 28,178,766 (GRCm39)	S887C	probably damaging	Het
Ppp1r3g	G	A	13: 36,152,978 (GRCm39)	A133T	possibly damaging	Het
Prpf8	G	A	11: 75,390,818 (GRCm39)	G1323D	probably damaging	Het
Rab3ip	A	G	10: 116,773,300 (GRCm39)		probably null	Het
Rpain	A	G	11: 70,861,358 (GRCm39)	H9R	possibly damaging	Het
Scin	T	C	12: 40,110,490 (GRCm39)		probably benign	Het
Serpinb6d	A	G	13: 33,855,369 (GRCm39)	T348A	probably benign	Het
Smad3	A	G	9: 63,664,835 (GRCm39)	L42P	probably damaging	Het
Smr3a	C	T	5: 88,156,014 (GRCm39)		probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r13	G	A	5: 109,322,085 (GRCm39)	T204I	probably benign	Het
Zfhx3	A	G	8: 109,660,561 (GRCm39)	N1272D	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
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
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

2014-05-07