Incidental Mutation 'IGL02752:Mybpc3'
ID 304250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mybpc3
Ensembl Gene ENSMUSG00000002100
Gene Name myosin binding protein C, cardiac
Synonyms cardiac C-protein
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # IGL02752
Quality Score
Status
Chromosome 2
Chromosomal Location 90948489-90966861 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 90962982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066473] [ENSMUST00000075269] [ENSMUST00000077941] [ENSMUST00000099723] [ENSMUST00000099725] [ENSMUST00000111369] [ENSMUST00000137942] [ENSMUST00000111430] [ENSMUST00000111376] [ENSMUST00000111381] [ENSMUST00000111370] [ENSMUST00000111371] [ENSMUST00000111373] [ENSMUST00000111372] [ENSMUST00000111375] [ENSMUST00000169776]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000066473
SMART Domains Protein: ENSMUSP00000069350
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
low complexity region 1334 1348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075269
SMART Domains Protein: ENSMUSP00000074746
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 719 N/A INTRINSIC
low complexity region 762 770 N/A INTRINSIC
low complexity region 797 820 N/A INTRINSIC
low complexity region 889 899 N/A INTRINSIC
low complexity region 1276 1290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077941
SMART Domains Protein: ENSMUSP00000077094
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 928 938 N/A INTRINSIC
low complexity region 1354 1368 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099723
SMART Domains Protein: ENSMUSP00000097311
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 928 938 N/A INTRINSIC
low complexity region 1189 1203 N/A INTRINSIC
low complexity region 1353 1367 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099725
SMART Domains Protein: ENSMUSP00000097313
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
low complexity region 1334 1348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111369
SMART Domains Protein: ENSMUSP00000107000
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 721 N/A INTRINSIC
low complexity region 773 796 N/A INTRINSIC
low complexity region 865 875 N/A INTRINSIC
low complexity region 1108 1122 N/A INTRINSIC
low complexity region 1251 1265 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000137942
SMART Domains Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100

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 probably null
Transcript: ENSMUST00000111430
SMART Domains Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100

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 noncoding transcript
Transcript: ENSMUST00000150461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125321
Predicted Effect probably benign
Transcript: ENSMUST00000111376
SMART Domains Protein: ENSMUSP00000107007
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 721 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
low complexity region 1151 1162 N/A INTRINSIC
low complexity region 1312 1326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111381
SMART Domains Protein: ENSMUSP00000107012
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 928 938 N/A INTRINSIC
low complexity region 1315 1329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111370
SMART Domains Protein: ENSMUSP00000107001
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
low complexity region 1334 1348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111371
SMART Domains Protein: ENSMUSP00000107002
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 719 N/A INTRINSIC
low complexity region 762 770 N/A INTRINSIC
low complexity region 797 820 N/A INTRINSIC
low complexity region 909 919 N/A INTRINSIC
low complexity region 1296 1310 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111373
SMART Domains Protein: ENSMUSP00000107004
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 2.9e-29 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 8.7e-71 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 2.8e-16 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 721 N/A INTRINSIC
low complexity region 773 796 N/A INTRINSIC
low complexity region 865 875 N/A INTRINSIC
low complexity region 1108 1122 N/A INTRINSIC
low complexity region 1251 1265 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111372
SMART Domains Protein: ENSMUSP00000107003
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
low complexity region 1295 1309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111375
SMART Domains Protein: ENSMUSP00000107006
Gene: ENSMUSG00000040687

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 721 N/A INTRINSIC
low complexity region 773 796 N/A INTRINSIC
low complexity region 885 895 N/A INTRINSIC
low complexity region 1272 1286 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169776
SMART Domains Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154028
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C A 15: 84,840,042 (GRCm39) E145* probably null Het
Abca9 A G 11: 110,018,194 (GRCm39) F1142S probably damaging Het
Bod1l T C 5: 41,973,806 (GRCm39) T2503A possibly damaging Het
Bpi A G 2: 158,104,344 (GRCm39) D149G probably damaging Het
Cntnap5a A G 1: 116,508,261 (GRCm39) T1258A probably benign Het
Col4a3 A G 1: 82,637,946 (GRCm39) D256G unknown Het
Cul5 T C 9: 53,546,278 (GRCm39) T338A probably damaging Het
Efs A G 14: 55,154,880 (GRCm39) V453A probably damaging Het
Fbxw19 T A 9: 109,323,709 (GRCm39) N89Y probably benign Het
Fbxw8 A G 5: 118,280,815 (GRCm39) F114S probably damaging Het
Flnb A G 14: 7,917,338 (GRCm38) I1606V probably benign Het
Gpr158 A G 2: 21,831,638 (GRCm39) T913A possibly damaging Het
Gtf2f1 A T 17: 57,316,682 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,387,678 (GRCm39) *1059L probably null Het
Hmgb4 T C 4: 128,154,134 (GRCm39) K145E probably damaging Het
Igf2bp2 T A 16: 21,898,860 (GRCm39) M250L probably benign Het
Igkv14-111 A G 6: 68,233,561 (GRCm39) K21E probably benign Het
Il6st C T 13: 112,616,729 (GRCm39) T92I probably damaging Het
Jak3 G T 8: 72,135,595 (GRCm39) V581L possibly damaging Het
Kank2 C T 9: 21,706,329 (GRCm39) V230M probably damaging Het
Kif1a G A 1: 92,967,569 (GRCm39) A1123V possibly damaging Het
Kpna4 T A 3: 69,002,863 (GRCm39) R125* probably null Het
Ntn4 T C 10: 93,546,421 (GRCm39) V358A possibly damaging Het
Pacsin1 A T 17: 27,921,672 (GRCm39) probably null Het
Pcsk2 A G 2: 143,615,865 (GRCm39) N221S probably benign Het
Pik3cg A G 12: 32,254,262 (GRCm39) L575P probably damaging Het
Pkhd1 A T 1: 20,623,815 (GRCm39) V760E possibly damaging Het
Plxnc1 T C 10: 94,630,542 (GRCm39) probably null Het
Ppfia1 T C 7: 144,073,341 (GRCm39) T217A probably benign Het
Rictor A G 15: 6,816,852 (GRCm39) T1375A probably benign Het
Scn1a A G 2: 66,161,756 (GRCm39) I264T probably damaging Het
Sez6l2 T C 7: 126,552,905 (GRCm39) S164P probably damaging Het
Slc31a1 C T 4: 62,303,869 (GRCm39) probably benign Het
Slc45a1 T C 4: 150,722,478 (GRCm39) N469D probably benign Het
Slco1a5 T C 6: 142,208,438 (GRCm39) T76A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stfa3 G A 16: 36,270,999 (GRCm39) T95I probably damaging Het
Stk11ip A C 1: 75,501,325 (GRCm39) probably null Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Traf1 A G 2: 34,848,020 (GRCm39) S25P probably benign Het
Ttn G T 2: 76,622,125 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,798,283 (GRCm39) I2041N probably damaging Het
Zfp512b A T 2: 181,229,864 (GRCm39) D556E possibly damaging Het
Zfpm2 T A 15: 40,965,415 (GRCm39) D633E probably benign Het
Other mutations in Mybpc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Mybpc3 APN 2 90,950,374 (GRCm39) missense probably benign
IGL00985:Mybpc3 APN 2 90,965,704 (GRCm39) missense probably benign 0.16
IGL01926:Mybpc3 APN 2 90,965,752 (GRCm39) missense possibly damaging 0.61
IGL02135:Mybpc3 APN 2 90,955,171 (GRCm39) missense possibly damaging 0.58
IGL02187:Mybpc3 APN 2 90,965,797 (GRCm39) missense probably benign
IGL02219:Mybpc3 APN 2 90,951,368 (GRCm39) critical splice acceptor site probably null
IGL03002:Mybpc3 APN 2 90,954,234 (GRCm39) missense probably damaging 1.00
IGL03118:Mybpc3 APN 2 90,954,848 (GRCm39) missense probably damaging 1.00
IGL03238:Mybpc3 APN 2 90,962,004 (GRCm39) missense probably damaging 1.00
amanitin UTSW 2 90,948,524 (GRCm39) missense probably null 0.98
fungus UTSW 2 90,954,306 (GRCm39) missense possibly damaging 0.87
R0010:Mybpc3 UTSW 2 90,965,178 (GRCm39) nonsense probably null
R0114:Mybpc3 UTSW 2 90,954,839 (GRCm39) missense probably damaging 1.00
R0139:Mybpc3 UTSW 2 90,950,682 (GRCm39) splice site probably benign
R0282:Mybpc3 UTSW 2 90,954,369 (GRCm39) splice site probably benign
R0673:Mybpc3 UTSW 2 90,950,772 (GRCm39) missense probably damaging 1.00
R1388:Mybpc3 UTSW 2 90,953,219 (GRCm39) missense probably benign 0.43
R2159:Mybpc3 UTSW 2 90,955,715 (GRCm39) missense probably damaging 1.00
R2424:Mybpc3 UTSW 2 90,966,138 (GRCm39) missense probably benign 0.20
R3983:Mybpc3 UTSW 2 90,965,714 (GRCm39) missense probably benign
R4322:Mybpc3 UTSW 2 90,954,306 (GRCm39) missense possibly damaging 0.87
R4909:Mybpc3 UTSW 2 90,965,157 (GRCm39) missense probably benign
R4913:Mybpc3 UTSW 2 90,956,609 (GRCm39) missense possibly damaging 0.46
R4965:Mybpc3 UTSW 2 90,949,592 (GRCm39) missense possibly damaging 0.50
R5248:Mybpc3 UTSW 2 90,955,573 (GRCm39) splice site probably null
R5311:Mybpc3 UTSW 2 90,959,023 (GRCm39) nonsense probably null
R5332:Mybpc3 UTSW 2 90,953,283 (GRCm39) missense probably damaging 1.00
R5635:Mybpc3 UTSW 2 90,965,174 (GRCm39) missense probably benign 0.00
R5647:Mybpc3 UTSW 2 90,952,067 (GRCm39) splice site probably null
R5698:Mybpc3 UTSW 2 90,955,194 (GRCm39) missense possibly damaging 0.85
R5832:Mybpc3 UTSW 2 90,949,520 (GRCm39) splice site probably null
R5895:Mybpc3 UTSW 2 90,955,010 (GRCm39) missense probably damaging 0.99
R6833:Mybpc3 UTSW 2 90,955,773 (GRCm39) splice site probably null
R7061:Mybpc3 UTSW 2 90,955,749 (GRCm39) missense possibly damaging 0.93
R7144:Mybpc3 UTSW 2 90,964,949 (GRCm39) missense probably benign 0.03
R7169:Mybpc3 UTSW 2 90,948,524 (GRCm39) missense possibly damaging 0.85
R7472:Mybpc3 UTSW 2 90,962,001 (GRCm39) missense probably damaging 1.00
R7538:Mybpc3 UTSW 2 90,950,832 (GRCm39) missense probably damaging 1.00
R7677:Mybpc3 UTSW 2 90,959,376 (GRCm39) missense probably benign 0.04
R7955:Mybpc3 UTSW 2 90,956,401 (GRCm39) splice site probably null
R8290:Mybpc3 UTSW 2 90,951,473 (GRCm39) missense probably benign 0.00
R8486:Mybpc3 UTSW 2 90,959,117 (GRCm39) missense probably damaging 1.00
R8821:Mybpc3 UTSW 2 90,948,524 (GRCm39) missense probably null 0.98
R8885:Mybpc3 UTSW 2 90,954,237 (GRCm39) missense probably benign
R8938:Mybpc3 UTSW 2 90,954,294 (GRCm39) missense probably damaging 1.00
R9420:Mybpc3 UTSW 2 90,965,478 (GRCm39) nonsense probably null
R9581:Mybpc3 UTSW 2 90,949,616 (GRCm39) missense probably benign
Z1088:Mybpc3 UTSW 2 90,965,704 (GRCm39) missense probably benign 0.16
Z1176:Mybpc3 UTSW 2 90,950,748 (GRCm39) missense possibly damaging 0.85
Z1177:Mybpc3 UTSW 2 90,954,309 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16