Incidental Mutation 'IGL00985:Mybpc3'
ID 27040
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 # IGL00985
Quality Score
Status
Chromosome 2
Chromosomal Location 90948489-90966861 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90965704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1172 (E1172G)
Ref Sequence ENSEMBL: ENSMUSP00000127070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066473] [ENSMUST00000075269] [ENSMUST00000077941] [ENSMUST00000099723] [ENSMUST00000099725] [ENSMUST00000111369] [ENSMUST00000111370] [ENSMUST00000137942] [ENSMUST00000111430] [ENSMUST00000111371] [ENSMUST00000111381] [ENSMUST00000111375] [ENSMUST00000111373] [ENSMUST00000111372] [ENSMUST00000111376] [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 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: ENSMUST00000137942
AA Change: E1007G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: E1007G

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 benign
Transcript: ENSMUST00000111430
AA Change: E1171G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: E1171G

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: ENSMUST00000154028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125321
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125227
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: 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: 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 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: 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: ENSMUST00000169776
AA Change: E1172G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: E1172G

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G T 7: 98,193,125 (GRCm39) noncoding transcript Het
Abca15 G A 7: 119,996,241 (GRCm39) G1389E probably damaging Het
Adcy3 T C 12: 4,184,600 (GRCm39) V92A probably damaging Het
Aoc1l1 A G 6: 48,954,481 (GRCm39) S540G probably benign Het
Aplnr A T 2: 84,968,007 (GRCm39) Y344F probably benign Het
Atm A T 9: 53,371,116 (GRCm39) V2241E probably damaging Het
Cep290 T C 10: 100,403,023 (GRCm39) probably benign Het
Cnpy1 A T 5: 28,414,152 (GRCm39) Y91* probably null Het
Cobl C A 11: 12,204,843 (GRCm39) G613W probably damaging Het
Csn1s2a T C 5: 87,932,439 (GRCm39) S121P possibly damaging Het
Flg2 A T 3: 93,110,585 (GRCm39) Y871F unknown Het
Gapvd1 T A 2: 34,585,575 (GRCm39) D1008V probably damaging Het
Gask1a T C 9: 121,807,401 (GRCm39) L515P probably damaging Het
Igfl3 T C 7: 17,914,000 (GRCm39) probably null Het
Kmt2b A T 7: 30,279,352 (GRCm39) V1470E probably damaging Het
Mcc A T 18: 44,624,306 (GRCm39) L413Q probably damaging Het
Mia2 G A 12: 59,235,146 (GRCm39) G610D probably damaging Het
Mlst8 A T 17: 24,696,287 (GRCm39) D147E probably damaging Het
Muc19 G T 15: 91,770,943 (GRCm39) noncoding transcript Het
Niban3 T C 8: 72,057,507 (GRCm39) probably benign Het
Nop14 A T 5: 34,802,133 (GRCm39) L557Q probably damaging Het
P3h3 T C 6: 124,822,552 (GRCm39) T540A probably benign Het
Phc3 T A 3: 30,968,346 (GRCm39) I897F probably benign Het
Plekhh2 G A 17: 84,871,356 (GRCm39) V205I probably benign Het
Poc5 A G 13: 96,547,254 (GRCm39) K506E probably damaging Het
Pum1 C A 4: 130,471,100 (GRCm39) T450K probably damaging Het
Retnlg G A 16: 48,694,688 (GRCm39) R112H possibly damaging Het
Rgl2 T C 17: 34,151,075 (GRCm39) V101A probably damaging Het
Serinc5 A G 13: 92,842,779 (GRCm39) T410A probably damaging Het
Shroom1 T C 11: 53,356,796 (GRCm39) V553A probably benign Het
Slco4c1 A T 1: 96,768,912 (GRCm39) W317R probably damaging Het
Snap91 T C 9: 86,703,790 (GRCm39) T268A probably benign Het
Supt16 T C 14: 52,399,148 (GRCm39) K1044E possibly damaging Het
Tarbp1 A T 8: 127,185,900 (GRCm39) L431I probably damaging Het
Tas2r124 C T 6: 132,732,492 (GRCm39) T267I probably benign Het
Tm7sf3 C T 6: 146,507,692 (GRCm39) V457I possibly damaging Het
Tmem132c A T 5: 127,581,930 (GRCm39) S382C probably damaging Het
Tmprss7 C A 16: 45,482,685 (GRCm39) C582F probably damaging Het
Tsc2 T C 17: 24,816,105 (GRCm39) E1694G probably damaging Het
Txndc2 G T 17: 65,945,544 (GRCm39) S211Y possibly damaging Het
Ubr3 A C 2: 69,833,775 (GRCm39) T205P probably damaging Het
Vmn2r116 G A 17: 23,620,489 (GRCm39) G741D probably damaging Het
Vps8 G A 16: 21,296,334 (GRCm39) probably benign Het
Wdr19 G A 5: 65,409,642 (GRCm39) D1127N probably benign Het
Zim1 T A 7: 6,685,759 (GRCm39) Y83F possibly damaging Het
Other mutations in Mybpc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Mybpc3 APN 2 90,950,374 (GRCm39) missense probably benign
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
IGL02752:Mybpc3 APN 2 90,962,982 (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 2013-04-17