Incidental Mutation 'R4910:Mybpc1'
ID 379424
Institutional Source Beutler Lab
Gene Symbol Mybpc1
Ensembl Gene ENSMUSG00000020061
Gene Name myosin binding protein C, slow-type
Synonyms 8030451F13Rik, Slow-type C-protein
MMRRC Submission 042512-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R4910 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 88518279-88605152 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 88555724 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 304 (K304*)
Ref Sequence ENSEMBL: ENSMUSP00000112615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119185] [ENSMUST00000121629]
AlphaFold A0A571BEN1
Predicted Effect probably null
Transcript: ENSMUST00000119185
AA Change: K290*
SMART Domains Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: K290*

DomainStartEndE-ValueType
IG 51 147 1.96e-6 SMART
low complexity region 221 233 N/A INTRINSIC
IG 246 325 4.53e-2 SMART
IG 335 416 1.13e-2 SMART
IG 426 506 6.97e-3 SMART
IG 519 604 2.83e-3 SMART
FN3 607 690 4.28e-10 SMART
FN3 705 788 1.49e-9 SMART
low complexity region 800 812 N/A INTRINSIC
IG 815 898 9.06e-2 SMART
FN3 901 983 2.06e-12 SMART
IGc2 1028 1095 1.88e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000121629
AA Change: K304*
SMART Domains Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: K304*

DomainStartEndE-ValueType
low complexity region 8 27 N/A INTRINSIC
IG 65 161 1.96e-6 SMART
low complexity region 235 247 N/A INTRINSIC
IG 260 339 4.53e-2 SMART
IG 349 430 1.13e-2 SMART
IG 440 520 6.97e-3 SMART
IG 533 618 2.83e-3 SMART
FN3 621 704 4.28e-10 SMART
FN3 719 802 1.49e-9 SMART
low complexity region 814 826 N/A INTRINSIC
IG 829 912 9.06e-2 SMART
FN3 915 997 2.06e-12 SMART
IGc2 1042 1109 1.88e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156573
SMART Domains Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061

DomainStartEndE-ValueType
PDB:1X44|A 2 58 1e-26 PDB
IG 66 146 6.97e-3 SMART
IG 159 244 2.83e-3 SMART
FN3 247 330 4.28e-10 SMART
FN3 345 446 1.6e-9 SMART
low complexity region 458 470 N/A INTRINSIC
IG 473 556 9.06e-2 SMART
FN3 559 617 8.17e0 SMART
Meta Mutation Damage Score 0.9716 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.6%
  • 20x: 86.1%
Validation Efficiency 95% (144/151)
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. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C A 3: 36,998,199 (GRCm38) T3016K probably damaging Het
Adam3 T A 8: 24,694,305 (GRCm38) I560L probably benign Het
Agxt T C 1: 93,135,714 (GRCm38) F113L probably benign Het
Aknad1 T A 3: 108,781,252 (GRCm38) probably null Het
Alpk2 T A 18: 65,266,286 (GRCm38) K2074* probably null Het
Apob A G 12: 8,007,848 (GRCm38) Y2077C probably damaging Het
Arhgap17 A T 7: 123,308,377 (GRCm38) L254Q probably damaging Het
Arhgap26 T A 18: 38,993,637 (GRCm38) probably benign Het
Arhgef5 A G 6: 43,272,828 (GRCm38) D171G probably benign Het
Arid1b T A 17: 5,342,203 (GRCm38) S2003T probably damaging Het
Armc5 T G 7: 128,240,728 (GRCm38) L406R possibly damaging Het
Arsb T C 13: 93,771,977 (GRCm38) V67A probably benign Het
Aspm A G 1: 139,491,543 (GRCm38) Y2982C probably damaging Het
Btbd7 A G 12: 102,808,048 (GRCm38) L487P probably damaging Het
Card11 C G 5: 140,874,414 (GRCm38) D1063H probably damaging Het
Ccdc186 G A 19: 56,798,691 (GRCm38) T615M probably damaging Het
Cd101 T A 3: 100,993,889 (GRCm38) T960S probably benign Het
Cdca7l C A 12: 117,873,785 (GRCm38) S191* probably null Het
Cemip A T 7: 83,997,411 (GRCm38) I143N probably damaging Het
Cep170 C T 1: 176,782,263 (GRCm38) E161K possibly damaging Het
Chrm2 A T 6: 36,524,233 (GRCm38) T342S probably benign Het
Cib2 A G 9: 54,549,879 (GRCm38) F34L probably benign Het
Cnot1 A T 8: 95,733,231 (GRCm38) I1836N probably benign Het
Col4a3 C A 1: 82,672,679 (GRCm38) P552Q unknown Het
Cp T A 3: 19,989,224 (GRCm38) probably benign Het
Cul3 C T 1: 80,290,089 (GRCm38) V112I probably benign Het
Dcdc5 A G 2: 106,365,550 (GRCm38) noncoding transcript Het
Disp1 A T 1: 183,135,463 (GRCm38) V133E probably damaging Het
Dlg4 A G 11: 70,030,925 (GRCm38) D30G probably damaging Het
Dopey1 C T 9: 86,492,061 (GRCm38) T191I probably damaging Het
Enam T G 5: 88,502,314 (GRCm38) S561A probably benign Het
Fbxw8 G T 5: 118,125,027 (GRCm38) probably null Het
Filip1 A G 9: 79,817,932 (GRCm38) V1135A probably benign Het
Galnt6 T C 15: 100,716,178 (GRCm38) T81A probably benign Het
Ghdc T C 11: 100,766,988 (GRCm38) K472E probably benign Het
Gm10568 T G 1: 3,680,941 (GRCm38) noncoding transcript Het
Gm4788 T G 1: 139,774,563 (GRCm38) D61A probably damaging Het
Gm4953 T A 1: 159,168,359 (GRCm38) noncoding transcript Het
Gm6871 T A 7: 41,573,592 (GRCm38) H24L probably benign Het
Gm8298 T A 3: 59,869,014 (GRCm38) probably null Het
Gpr155 G A 2: 73,367,538 (GRCm38) Q413* probably null Het
Grhl2 A G 15: 37,291,676 (GRCm38) probably null Het
Ighv1-31 G C 12: 114,829,508 (GRCm38) S36* probably null Het
Ighv8-5 A G 12: 115,067,842 (GRCm38) S26P probably damaging Het
Igkv17-134 A C 6: 67,720,926 (GRCm38) probably benign Het
Igkv5-48 A C 6: 69,726,849 (GRCm38) L24R probably damaging Het
Isg20l2 T A 3: 87,939,263 (GRCm38) V340E probably damaging Het
Lrrtm1 A G 6: 77,244,901 (GRCm38) Y447C probably damaging Het
Ltbp1 T C 17: 75,327,292 (GRCm38) S855P probably damaging Het
Mgat4e A T 1: 134,541,864 (GRCm38) N147K probably damaging Het
Mlc1 A G 15: 88,958,212 (GRCm38) L315P possibly damaging Het
Mrgpra2a A G 7: 47,426,544 (GRCm38) V322A probably benign Het
Mroh7 T C 4: 106,709,955 (GRCm38) probably null Het
Nlrp14 A C 7: 107,186,583 (GRCm38) D622A possibly damaging Het
Nlrp1b T A 11: 71,217,277 (GRCm38) H466L probably benign Het
Nlrp4d T A 7: 10,378,409 (GRCm38) noncoding transcript Het
Nrxn3 A G 12: 89,260,360 (GRCm38) E628G possibly damaging Het
Nup133 T C 8: 123,927,131 (GRCm38) R530G possibly damaging Het
Nup98 A G 7: 102,195,800 (GRCm38) S21P unknown Het
Olfr1307 A T 2: 111,945,078 (GRCm38) I126K possibly damaging Het
Olfr168 T C 16: 19,530,018 (GRCm38) T301A probably benign Het
Olfr173 T A 16: 58,797,442 (GRCm38) T135S probably benign Het
Olfr251 T A 9: 38,378,742 (GRCm38) V287E probably null Het
Olfr671 G A 7: 104,975,479 (GRCm38) P169S possibly damaging Het
Olfr753-ps1 T C 17: 37,170,043 (GRCm38) I202V probably benign Het
Olfr798 T C 10: 129,625,807 (GRCm38) T85A probably damaging Het
Otog A T 7: 46,298,534 (GRCm38) I2320F probably damaging Het
Otog A T 7: 46,264,062 (GRCm38) Y773F probably damaging Het
Otogl T C 10: 107,879,517 (GRCm38) S433G probably benign Het
Pcdhb17 A T 18: 37,485,159 (GRCm38) M1L possibly damaging Het
Pde7b T A 10: 20,724,734 (GRCm38) probably benign Het
Pgm2 T C 4: 99,963,527 (GRCm38) V207A probably damaging Het
Pkd1 T A 17: 24,572,687 (GRCm38) V1116E probably damaging Het
Pkd1l1 T A 11: 8,929,360 (GRCm38) Y497F possibly damaging Het
Pomgnt2 T C 9: 121,982,947 (GRCm38) N256S probably benign Het
Pot1a A T 6: 25,746,021 (GRCm38) probably benign Het
Prdm9 T C 17: 15,544,323 (GRCm38) T732A probably benign Het
Prg4 T A 1: 150,455,823 (GRCm38) probably benign Het
Ptpro T C 6: 137,368,338 (GRCm38) V114A probably damaging Het
Pyurf A G 6: 57,691,948 (GRCm38) S20P unknown Het
Rasgrf1 A G 9: 89,976,752 (GRCm38) T488A probably benign Het
Rassf8 A T 6: 145,815,280 (GRCm38) K111* probably null Het
Reps1 A T 10: 18,107,688 (GRCm38) E426D probably damaging Het
Robo2 T C 16: 73,933,778 (GRCm38) K982R probably damaging Het
Rps23 T C 13: 90,923,752 (GRCm38) probably null Het
Scamp4 T A 10: 80,609,671 (GRCm38) V56E probably damaging Het
Serpina1c C T 12: 103,895,032 (GRCm38) V408I probably benign Het
Sigirr A G 7: 141,093,788 (GRCm38) W49R probably damaging Het
Slc17a6 A T 7: 51,658,741 (GRCm38) H271L possibly damaging Het
Slc7a5 G T 8: 121,885,122 (GRCm38) T389K probably damaging Het
Slf1 T A 13: 77,043,880 (GRCm38) H945L probably benign Het
Slit3 T C 11: 35,632,722 (GRCm38) S662P probably damaging Het
Snta1 C A 2: 154,377,018 (GRCm38) E466* probably null Het
Sowaha A G 11: 53,478,445 (GRCm38) L488P probably damaging Het
Spata17 C A 1: 187,194,011 (GRCm38) V41F probably damaging Het
Spta1 T A 1: 174,217,863 (GRCm38) probably null Het
Srrm2 T A 17: 23,815,388 (GRCm38) probably benign Het
Stard13 T C 5: 151,062,527 (GRCm38) N388S probably benign Het
Stmn3 T C 2: 181,308,837 (GRCm38) K59E probably damaging Het
Sval1 A G 6: 41,955,444 (GRCm38) N76S probably benign Het
Svep1 T C 4: 58,096,276 (GRCm38) H1448R possibly damaging Het
Sycp2 A T 2: 178,358,224 (GRCm38) D986E probably benign Het
Sytl5 C T X: 9,915,602 (GRCm38) P181L possibly damaging Het
Tbkbp1 G A 11: 97,139,130 (GRCm38) S400L probably benign Het
Tesc G T 5: 118,056,466 (GRCm38) probably benign Het
Tjp1 C T 7: 65,343,727 (GRCm38) G33R probably damaging Het
Tlr11 C A 14: 50,362,889 (GRCm38) F777L probably benign Het
Tmem156 A G 5: 65,091,462 (GRCm38) probably benign Het
Top3a A G 11: 60,752,378 (GRCm38) probably benign Het
Tpcn1 A G 5: 120,556,519 (GRCm38) W162R probably damaging Het
Tpd52l2 A T 2: 181,515,212 (GRCm38) probably benign Het
Trim80 G A 11: 115,446,455 (GRCm38) G381D probably damaging Het
Ugt1a10 C T 1: 88,215,123 (GRCm38) P113L probably damaging Het
Vmn2r117 TC T 17: 23,479,513 (GRCm38) probably null Het
Vmn2r56 T A 7: 12,715,535 (GRCm38) I259F possibly damaging Het
Vmn2r59 T C 7: 42,043,653 (GRCm38) T508A probably benign Het
Wdr73 A G 7: 80,891,708 (GRCm38) V362A probably damaging Het
Zdhhc21 G T 4: 82,820,331 (GRCm38) T207K possibly damaging Het
Zfp120 T A 2: 150,117,952 (GRCm38) Q150L probably damaging Het
Zfp212 C A 6: 47,931,499 (GRCm38) Q471K possibly damaging Het
Zfp804b C T 5: 6,770,540 (GRCm38) G841D possibly damaging Het
Znfx1 A T 2: 167,036,804 (GRCm38) M1884K probably damaging Het
Znfx1 G T 2: 167,037,482 (GRCm38) A1658D probably benign Het
Other mutations in Mybpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Mybpc1 APN 10 88,549,262 (GRCm38) missense probably damaging 0.98
IGL00577:Mybpc1 APN 10 88,536,384 (GRCm38) missense probably damaging 1.00
IGL00703:Mybpc1 APN 10 88,525,108 (GRCm38) splice site probably null
IGL00964:Mybpc1 APN 10 88,555,742 (GRCm38) critical splice acceptor site probably null
IGL01738:Mybpc1 APN 10 88,570,645 (GRCm38) missense probably damaging 1.00
IGL01978:Mybpc1 APN 10 88,531,770 (GRCm38) missense probably damaging 1.00
IGL02255:Mybpc1 APN 10 88,536,428 (GRCm38) missense probably damaging 1.00
IGL02997:Mybpc1 APN 10 88,526,373 (GRCm38) missense probably damaging 1.00
R0098:Mybpc1 UTSW 10 88,529,564 (GRCm38) missense probably benign 0.02
R0240:Mybpc1 UTSW 10 88,555,738 (GRCm38) missense possibly damaging 0.59
R0240:Mybpc1 UTSW 10 88,555,738 (GRCm38) missense possibly damaging 0.59
R0449:Mybpc1 UTSW 10 88,540,960 (GRCm38) missense probably damaging 1.00
R0879:Mybpc1 UTSW 10 88,571,516 (GRCm38) splice site probably benign
R1321:Mybpc1 UTSW 10 88,570,601 (GRCm38) missense probably damaging 1.00
R1321:Mybpc1 UTSW 10 88,529,541 (GRCm38) missense possibly damaging 0.85
R1562:Mybpc1 UTSW 10 88,553,331 (GRCm38) missense probably damaging 1.00
R1783:Mybpc1 UTSW 10 88,570,568 (GRCm38) missense probably damaging 1.00
R1803:Mybpc1 UTSW 10 88,553,295 (GRCm38) missense possibly damaging 0.65
R1962:Mybpc1 UTSW 10 88,548,826 (GRCm38) missense probably damaging 1.00
R1972:Mybpc1 UTSW 10 88,551,542 (GRCm38) missense probably benign 0.00
R2006:Mybpc1 UTSW 10 88,546,059 (GRCm38) missense probably damaging 0.99
R2125:Mybpc1 UTSW 10 88,573,437 (GRCm38) nonsense probably null
R2129:Mybpc1 UTSW 10 88,551,452 (GRCm38) missense probably damaging 1.00
R2163:Mybpc1 UTSW 10 88,540,942 (GRCm38) splice site probably benign
R2200:Mybpc1 UTSW 10 88,555,695 (GRCm38) missense probably damaging 1.00
R2219:Mybpc1 UTSW 10 88,555,678 (GRCm38) missense probably damaging 1.00
R2270:Mybpc1 UTSW 10 88,551,407 (GRCm38) missense probably benign 0.01
R2961:Mybpc1 UTSW 10 88,531,779 (GRCm38) missense probably damaging 1.00
R3767:Mybpc1 UTSW 10 88,570,659 (GRCm38) splice site probably null
R4032:Mybpc1 UTSW 10 88,529,564 (GRCm38) missense probably benign 0.02
R4226:Mybpc1 UTSW 10 88,573,525 (GRCm38) nonsense probably null
R4821:Mybpc1 UTSW 10 88,548,865 (GRCm38) missense probably damaging 0.98
R4876:Mybpc1 UTSW 10 88,536,424 (GRCm38) missense probably benign 0.03
R4876:Mybpc1 UTSW 10 88,522,991 (GRCm38) missense probably benign
R4878:Mybpc1 UTSW 10 88,551,430 (GRCm38) missense possibly damaging 0.95
R4913:Mybpc1 UTSW 10 88,553,254 (GRCm38) critical splice donor site probably null
R4964:Mybpc1 UTSW 10 88,555,663 (GRCm38) missense probably benign 0.31
R5023:Mybpc1 UTSW 10 88,543,774 (GRCm38) missense probably damaging 1.00
R5098:Mybpc1 UTSW 10 88,546,064 (GRCm38) missense probably damaging 1.00
R5196:Mybpc1 UTSW 10 88,536,351 (GRCm38) missense probably damaging 0.97
R5344:Mybpc1 UTSW 10 88,570,568 (GRCm38) missense probably damaging 1.00
R5399:Mybpc1 UTSW 10 88,523,014 (GRCm38) missense probably damaging 1.00
R5538:Mybpc1 UTSW 10 88,546,029 (GRCm38) missense possibly damaging 0.89
R5808:Mybpc1 UTSW 10 88,570,566 (GRCm38) missense possibly damaging 0.83
R5970:Mybpc1 UTSW 10 88,542,456 (GRCm38) missense probably damaging 1.00
R6324:Mybpc1 UTSW 10 88,568,619 (GRCm38) missense possibly damaging 0.56
R6433:Mybpc1 UTSW 10 88,560,355 (GRCm38) missense probably damaging 1.00
R6441:Mybpc1 UTSW 10 88,553,277 (GRCm38) missense probably benign 0.09
R6648:Mybpc1 UTSW 10 88,522,999 (GRCm38) missense probably damaging 0.96
R6844:Mybpc1 UTSW 10 88,536,381 (GRCm38) missense possibly damaging 0.50
R6931:Mybpc1 UTSW 10 88,542,330 (GRCm38) nonsense probably null
R6972:Mybpc1 UTSW 10 88,560,361 (GRCm38) missense possibly damaging 0.50
R6973:Mybpc1 UTSW 10 88,560,361 (GRCm38) missense possibly damaging 0.50
R6978:Mybpc1 UTSW 10 88,523,024 (GRCm38) missense probably damaging 1.00
R7007:Mybpc1 UTSW 10 88,553,412 (GRCm38) missense probably damaging 1.00
R7019:Mybpc1 UTSW 10 88,543,719 (GRCm38) missense probably damaging 1.00
R7407:Mybpc1 UTSW 10 88,549,347 (GRCm38) missense probably damaging 0.99
R7442:Mybpc1 UTSW 10 88,526,293 (GRCm38) missense probably damaging 1.00
R7577:Mybpc1 UTSW 10 88,549,325 (GRCm38) missense probably damaging 1.00
R7660:Mybpc1 UTSW 10 88,548,854 (GRCm38) missense possibly damaging 0.51
R7768:Mybpc1 UTSW 10 88,542,372 (GRCm38) missense probably damaging 1.00
R7818:Mybpc1 UTSW 10 88,558,667 (GRCm38) missense probably damaging 1.00
R8171:Mybpc1 UTSW 10 88,523,003 (GRCm38) missense probably damaging 1.00
R8195:Mybpc1 UTSW 10 88,558,691 (GRCm38) missense possibly damaging 0.47
R8241:Mybpc1 UTSW 10 88,536,424 (GRCm38) missense probably benign 0.03
R8360:Mybpc1 UTSW 10 88,573,497 (GRCm38) nonsense probably null
R8494:Mybpc1 UTSW 10 88,526,429 (GRCm38) missense probably benign 0.01
R8849:Mybpc1 UTSW 10 88,571,585 (GRCm38) missense probably benign 0.01
R8936:Mybpc1 UTSW 10 88,558,575 (GRCm38) missense probably benign 0.44
R9031:Mybpc1 UTSW 10 88,523,044 (GRCm38) missense probably damaging 0.99
R9061:Mybpc1 UTSW 10 88,555,639 (GRCm38) missense probably damaging 1.00
R9081:Mybpc1 UTSW 10 88,553,306 (GRCm38) missense probably damaging 1.00
R9172:Mybpc1 UTSW 10 88,543,753 (GRCm38) missense possibly damaging 0.93
R9323:Mybpc1 UTSW 10 88,524,967 (GRCm38) critical splice donor site probably null
R9460:Mybpc1 UTSW 10 88,536,335 (GRCm38) missense probably damaging 0.99
R9488:Mybpc1 UTSW 10 88,543,762 (GRCm38) missense possibly damaging 0.47
R9757:Mybpc1 UTSW 10 88,536,395 (GRCm38) missense probably damaging 1.00
R9796:Mybpc1 UTSW 10 88,570,635 (GRCm38) missense possibly damaging 0.56
Z1176:Mybpc1 UTSW 10 88,560,327 (GRCm38) missense probably benign
Z1177:Mybpc1 UTSW 10 88,573,437 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTAGAGGGGCGATTGCTTCTC -3'
(R):5'- CTTTGGGTTGACACTAATTGGAC -3'

Sequencing Primer
(F):5'- CGATTGCTTCTCTGGGCTGAAG -3'
(R):5'- GATCACAGCTTTATCCTTGATG -3'
Posted On 2016-04-15