Incidental Mutation 'IGL02135:Mybpc3'
ID281276
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mybpc3
Ensembl Gene ENSMUSG00000002100
Gene Namemyosin binding protein C, cardiac
Synonymscardiac C-protein
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.712) question?
Stock #IGL02135
Quality Score
Status
Chromosome2
Chromosomal Location91118144-91136516 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91124826 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 507 (F507L)
Ref Sequence ENSEMBL: ENSMUSP00000127070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111430] [ENSMUST00000137942] [ENSMUST00000169776]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111430
AA Change: F506L

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: F506L

DomainStartEndE-ValueType
IG 24 103 4.86e-2 SMART
low complexity region 131 143 N/A INTRINSIC
IG 167 263 2.81e-7 SMART
IG 373 453 1.25e-4 SMART
IG 463 544 2.48e-8 SMART
IG 554 640 3.16e-1 SMART
IG 659 772 3.91e-6 SMART
FN3 775 858 2.5e-11 SMART
FN3 873 956 7.06e-11 SMART
IG 983 1066 3.3e-4 SMART
FN3 1069 1151 4.38e-7 SMART
IGc2 1196 1263 6.21e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137942
AA Change: F342L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: F342L

DomainStartEndE-ValueType
IG 3 99 2.81e-7 SMART
low complexity region 135 152 N/A INTRINSIC
IG 209 289 1.25e-4 SMART
IG 299 380 2.48e-8 SMART
IG 390 476 3.16e-1 SMART
IG 495 608 3.91e-6 SMART
FN3 611 694 2.5e-11 SMART
FN3 709 792 7.06e-11 SMART
IG 819 902 3.3e-4 SMART
FN3 905 987 4.38e-7 SMART
IGc2 1032 1099 6.21e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169776
AA Change: F507L

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: F507L

DomainStartEndE-ValueType
IG 24 103 4.86e-2 SMART
low complexity region 131 143 N/A INTRINSIC
IG 167 263 2.81e-7 SMART
IG 374 454 1.25e-4 SMART
IG 464 545 2.48e-8 SMART
IG 555 641 3.16e-1 SMART
IG 660 773 3.91e-6 SMART
FN3 776 859 2.5e-11 SMART
FN3 874 957 7.06e-11 SMART
IG 984 1067 3.3e-4 SMART
FN3 1070 1152 4.38e-7 SMART
IGc2 1197 1264 6.21e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,773,929 K107R probably damaging Het
4930407I10Rik A G 15: 82,065,004 H1034R possibly damaging Het
App A G 16: 85,079,838 probably null Het
Arhgap23 G T 11: 97,451,702 R270L probably damaging Het
Arhgap36 T C X: 49,497,189 I342T possibly damaging Het
Arhgef12 A T 9: 42,972,165 M1356K possibly damaging Het
Asap3 A C 4: 136,241,153 probably null Het
Atl2 A G 17: 79,859,785 probably null Het
Cdh7 T A 1: 110,138,274 Y759* probably null Het
Celsr3 A G 9: 108,827,556 T413A probably benign Het
Cep97 A T 16: 55,922,967 I102K probably damaging Het
Ces2a T C 8: 104,740,181 S441P probably benign Het
Cops2 T C 2: 125,832,243 T435A probably benign Het
Ctc1 A G 11: 69,021,163 N56S probably benign Het
Dennd2a G A 6: 39,480,271 R746* probably null Het
Dnah5 T A 15: 28,247,885 C723S possibly damaging Het
Dnah7a A C 1: 53,623,473 V643G probably benign Het
Dnah9 A T 11: 66,117,492 S836T possibly damaging Het
Doxl2 G A 6: 48,975,564 R141Q probably benign Het
Edc4 T A 8: 105,885,822 V164D probably damaging Het
Gcfc2 A T 6: 81,941,400 D357V probably damaging Het
Grem1 T C 2: 113,749,787 N123S probably damaging Het
Gria1 T C 11: 57,185,853 V94A probably damaging Het
Hipk2 G A 6: 38,818,999 H112Y possibly damaging Het
Il7r T C 15: 9,508,006 N410S probably benign Het
Insr A T 8: 3,258,741 S98R probably damaging Het
Klhl7 T A 5: 24,141,281 Y308* probably null Het
Lcp1 T C 14: 75,200,486 V112A probably benign Het
Map2 A T 1: 66,380,761 R84* probably null Het
Mgst1 A T 6: 138,147,768 M27L probably damaging Het
Mroh7 A G 4: 106,702,510 L740P probably damaging Het
Nqo2 A T 13: 33,985,343 K183* probably null Het
Nt5c1b T C 12: 10,377,194 Y315H probably damaging Het
Odc1 T A 12: 17,547,673 I48N probably damaging Het
Olfr1353 T A 10: 78,970,106 S152R probably damaging Het
Olfr444 A G 6: 42,955,651 D51G probably damaging Het
Osbpl5 T A 7: 143,705,125 D236V probably damaging Het
Prkg1 A G 19: 30,993,076 Y212H probably benign Het
Pttg1ip T C 10: 77,589,744 probably null Het
Serpina1f T A 12: 103,693,715 T103S possibly damaging Het
Skp2 T C 15: 9,125,147 D115G probably benign Het
Slc25a30 C T 14: 75,766,995 V221I probably benign Het
Slc7a3 A C X: 101,079,492 D609E probably benign Het
Strc C T 2: 121,364,834 G1656D probably damaging Het
Tbc1d8 A G 1: 39,402,810 F234L probably damaging Het
Tgm7 T G 2: 121,099,038 I252L possibly damaging Het
Tlr5 A G 1: 182,973,254 D41G possibly damaging Het
Tns2 T C 15: 102,113,026 L1034P probably damaging Het
Trim15 A G 17: 36,867,064 V13A probably benign Het
Uros C T 7: 133,687,005 V258M possibly damaging Het
Wdr75 G A 1: 45,817,448 probably null Het
Wdr75 A G 1: 45,814,563 Y378C probably damaging Het
Wdr82 G T 9: 106,171,244 R9L possibly damaging Het
Ybx3 G A 6: 131,380,929 R125C probably damaging Het
Zc3h12b A G X: 95,899,264 T49A probably benign Het
Zfyve27 G A 19: 42,184,136 V279M probably damaging Het
Other mutations in Mybpc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Mybpc3 APN 2 91120029 missense probably benign
IGL00985:Mybpc3 APN 2 91135359 missense probably benign 0.16
IGL01926:Mybpc3 APN 2 91135407 missense possibly damaging 0.61
IGL02187:Mybpc3 APN 2 91135452 missense probably benign
IGL02219:Mybpc3 APN 2 91121023 critical splice acceptor site probably null
IGL02752:Mybpc3 APN 2 91132637 critical splice acceptor site probably null
IGL03002:Mybpc3 APN 2 91123889 missense probably damaging 1.00
IGL03118:Mybpc3 APN 2 91124503 missense probably damaging 1.00
IGL03238:Mybpc3 APN 2 91131659 missense probably damaging 1.00
R0010:Mybpc3 UTSW 2 91134833 nonsense probably null
R0114:Mybpc3 UTSW 2 91124494 missense probably damaging 1.00
R0139:Mybpc3 UTSW 2 91120337 splice site probably benign
R0282:Mybpc3 UTSW 2 91124024 splice site probably benign
R0673:Mybpc3 UTSW 2 91120427 missense probably damaging 1.00
R1388:Mybpc3 UTSW 2 91122874 missense probably benign 0.43
R2159:Mybpc3 UTSW 2 91125370 missense probably damaging 1.00
R2424:Mybpc3 UTSW 2 91135793 missense probably benign 0.20
R3983:Mybpc3 UTSW 2 91135369 missense probably benign
R4322:Mybpc3 UTSW 2 91123961 missense possibly damaging 0.87
R4909:Mybpc3 UTSW 2 91134812 missense probably benign
R4913:Mybpc3 UTSW 2 91126264 missense possibly damaging 0.46
R4965:Mybpc3 UTSW 2 91119247 missense possibly damaging 0.50
R5248:Mybpc3 UTSW 2 91125228 intron probably null
R5311:Mybpc3 UTSW 2 91128678 nonsense probably null
R5332:Mybpc3 UTSW 2 91122938 missense probably damaging 1.00
R5635:Mybpc3 UTSW 2 91134829 missense probably benign 0.00
R5647:Mybpc3 UTSW 2 91121722 splice site probably null
R5698:Mybpc3 UTSW 2 91124849 missense possibly damaging 0.85
R5832:Mybpc3 UTSW 2 91119175 splice site probably null
R5895:Mybpc3 UTSW 2 91124665 missense probably damaging 0.99
R6833:Mybpc3 UTSW 2 91125428 splice site probably null
R7061:Mybpc3 UTSW 2 91125404 missense possibly damaging 0.93
R7144:Mybpc3 UTSW 2 91134604 missense probably benign 0.03
R7169:Mybpc3 UTSW 2 91118179 missense possibly damaging 0.85
R7472:Mybpc3 UTSW 2 91131656 missense probably damaging 1.00
R7538:Mybpc3 UTSW 2 91120487 missense probably damaging 1.00
R7677:Mybpc3 UTSW 2 91129031 missense probably benign 0.04
Z1088:Mybpc3 UTSW 2 91135359 missense probably benign 0.16
Z1176:Mybpc3 UTSW 2 91120403 missense not run
Z1177:Mybpc3 UTSW 2 91123964 missense not run
Posted On2015-04-16