Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03296:Mybpc2'

416086

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 #

IGL03296

Quality Score

Status

Chromosome

Chromosomal Location

44151123-44174080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44156308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 835 (I835N)

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: I835N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: I835N

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

noncoding transcript
Transcript: ENSMUST00000205847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207290

Predicted Effect

unknown
Transcript: ENSMUST00000207516
AA Change: I116N

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	T	C	17: 43,632,044 (GRCm39)		probably benign	Het
Arhgef26	A	G	3: 62,330,926 (GRCm39)	T547A	probably damaging	Het
Cdc14a	T	A	3: 116,090,807 (GRCm39)	H375L	probably benign	Het
Ddx43	T	C	9: 78,306,380 (GRCm39)		probably null	Het
Dennd6a	T	C	14: 26,338,115 (GRCm39)		probably null	Het
Dock4	A	T	12: 40,783,256 (GRCm39)	E730V	possibly damaging	Het
Gpr55	A	G	1: 85,868,753 (GRCm39)	L276S	probably damaging	Het
Grid1	T	C	14: 35,302,524 (GRCm39)	F930L	possibly damaging	Het
Inf2	C	T	12: 112,570,642 (GRCm39)	Q394*	probably null	Het
Ints11	T	C	4: 155,969,780 (GRCm39)		probably null	Het
Kcnd2	T	C	6: 21,714,208 (GRCm39)	V397A	probably damaging	Het
Lmntd1	A	G	6: 145,359,203 (GRCm39)	F316L	probably benign	Het
Loxl4	A	T	19: 42,587,262 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mindy4	T	C	6: 55,274,738 (GRCm39)		probably null	Het
Myo5a	T	C	9: 75,023,484 (GRCm39)	I15T	probably damaging	Het
Nfkb2	A	T	19: 46,298,367 (GRCm39)	D557V	probably damaging	Het
Or11g27	A	T	14: 50,771,402 (GRCm39)	I178L	possibly damaging	Het
Pdk3	T	C	X: 92,875,503 (GRCm39)	Y19C	probably damaging	Het
Pdpr	G	T	8: 111,841,430 (GRCm39)	V221F	probably damaging	Het
Rab6a	T	C	7: 100,283,931 (GRCm39)	Y128H	probably benign	Het
Rars1	A	T	11: 35,707,523 (GRCm39)	Y429*	probably null	Het
Rsl24d1	T	C	9: 73,025,229 (GRCm39)		probably null	Het
Slc7a9	T	C	7: 35,151,852 (GRCm39)	F49S	probably damaging	Het
St14	C	T	9: 31,020,008 (GRCm39)	E34K	probably damaging	Het
Tcp10b	A	G	17: 13,292,443 (GRCm39)	T289A	probably damaging	Het
Tenm2	T	C	11: 35,942,852 (GRCm39)		probably null	Het
Tshz3	A	T	7: 36,470,761 (GRCm39)	T917S	probably damaging	Het
Vrtn	T	A	12: 84,695,622 (GRCm39)	I124N	probably damaging	Het
Vwa8	A	G	14: 79,420,540 (GRCm39)	E1747G	probably damaging	Het
Wdr33	A	T	18: 31,960,444 (GRCm39)	Q36L	probably benign	Het
Xpo5	C	T	17: 46,532,320 (GRCm39)	R452*	probably null	Het
Zdhhc8	A	T	16: 18,044,587 (GRCm39)	L311Q	possibly 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
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
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

2016-08-02