Incidental Mutation 'R9081:Mybpc1'
ID 690025
Institutional Source Beutler Lab
Gene Symbol Mybpc1
Ensembl Gene ENSMUSG00000020061
Gene Name myosin binding protein C, slow-type
Synonyms Slow-type C-protein, 8030451F13Rik
MMRRC Submission 068900-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.837) question?
Stock # R9081 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 88354141-88441014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 88389168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 400 (Y400S)
Ref Sequence ENSEMBL: ENSMUSP00000112699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119185] [ENSMUST00000121629]
AlphaFold A0A571BEN1
Predicted Effect probably damaging
Transcript: ENSMUST00000119185
AA Change: Y400S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: Y400S

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 damaging
Transcript: ENSMUST00000121629
AA Change: Y414S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: Y414S

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
SMART Domains Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
AA Change: Y39S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (71/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,248,502 (GRCm39) V271E probably damaging Het
Abca1 A G 4: 53,109,162 (GRCm39) probably null Het
Abcb11 C T 2: 69,122,388 (GRCm39) C365Y possibly damaging Het
Abcd2 A T 15: 91,075,772 (GRCm39) W14R probably damaging Het
Acmsd A G 1: 127,687,468 (GRCm39) D250G possibly damaging Het
Ahnak T A 19: 8,985,890 (GRCm39) D2391E possibly damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Cbr1 G T 16: 93,406,994 (GRCm39) G237* probably null Het
Cdr2l T A 11: 115,284,939 (GRCm39) V425E probably damaging Het
Chd9 A T 8: 91,704,144 (GRCm39) K693* probably null Het
Clgn T G 8: 84,153,169 (GRCm39) D590E probably damaging Het
Col14a1 T A 15: 55,291,387 (GRCm39) S952T unknown Het
Crip3 T C 17: 46,740,959 (GRCm39) L90P probably benign Het
Dchs1 A G 7: 105,403,636 (GRCm39) S2969P probably benign Het
Dnai2 T A 11: 114,629,493 (GRCm39) D173E probably damaging Het
Dnpep A T 1: 75,291,060 (GRCm39) F257Y probably damaging Het
Egln2 A G 7: 26,864,286 (GRCm39) V213A probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Eps8 A G 6: 137,504,415 (GRCm39) I106T probably benign Het
Evi5 A G 5: 107,963,571 (GRCm39) F379L probably benign Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Fpgs A T 2: 32,577,500 (GRCm39) probably benign Het
Garnl3 T G 2: 32,896,920 (GRCm39) D573A possibly damaging Het
Gja8 A G 3: 96,826,676 (GRCm39) S329P probably damaging Het
Gzf1 T A 2: 148,525,317 (GRCm39) probably benign Het
Hgs T A 11: 120,366,076 (GRCm39) probably benign Het
Ifi203 A G 1: 173,757,048 (GRCm39) I245T unknown Het
Ighv1-74 C A 12: 115,766,454 (GRCm39) W55C probably damaging Het
Iqcb1 A G 16: 36,656,006 (GRCm39) K131R probably null Het
Kit A T 5: 75,801,218 (GRCm39) M539L probably benign Het
Klk1 A G 7: 43,874,952 (GRCm39) probably benign Het
Krt84 C T 15: 101,440,814 (GRCm39) G126D unknown Het
Lama5 A T 2: 179,833,930 (GRCm39) C1473* probably null Het
Loxl3 T C 6: 83,025,638 (GRCm39) V332A possibly damaging Het
Mcf2l T A 8: 13,068,697 (GRCm39) Y1120N probably damaging Het
Meioc G A 11: 102,565,001 (GRCm39) V150M probably benign Het
Ncmap T C 4: 135,104,292 (GRCm39) probably benign Het
Noc2l A G 4: 156,326,224 (GRCm39) Y437C probably damaging Het
Nol8 A T 13: 49,814,881 (GRCm39) M330L probably benign Het
Or10d4c A T 9: 39,558,196 (GRCm39) Y58F probably damaging Het
Or5b113 C T 19: 13,342,019 (GRCm39) T9I probably benign Het
P4ha1 T C 10: 59,184,185 (GRCm39) Y216H probably damaging Het
Pamr1 A T 2: 102,441,933 (GRCm39) D174V probably damaging Het
Pdcd1 C T 1: 93,968,880 (GRCm39) probably null Het
Plec A G 15: 76,059,908 (GRCm39) V3343A probably damaging Het
Pnliprp1 A T 19: 58,723,406 (GRCm39) I266F probably benign Het
Poglut2 T A 1: 44,153,966 (GRCm39) Q161L probably benign Het
Ppp1r12b C T 1: 134,705,085 (GRCm39) V868I probably benign Het
Ppp2r2b A T 18: 42,781,825 (GRCm39) H325Q probably benign Het
Rif1 C T 2: 52,000,989 (GRCm39) T1481I probably damaging Het
Rnf213 A T 11: 119,357,062 (GRCm39) D4204V Het
Rps6kl1 T C 12: 85,185,881 (GRCm39) N409S probably damaging Het
Rundc1 T G 11: 101,316,053 (GRCm39) W42G probably damaging Het
Sec1 C T 7: 45,333,987 (GRCm39) probably benign Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Shc2 T C 10: 79,462,762 (GRCm39) probably null Het
Slc19a1 T C 10: 76,877,750 (GRCm39) V95A possibly damaging Het
Slc22a5 A T 11: 53,762,447 (GRCm39) D333E probably damaging Het
Specc1 A C 11: 62,010,051 (GRCm39) R522S possibly damaging Het
Syne2 C T 12: 76,016,290 (GRCm39) Q3291* probably null Het
Taar7e G A 10: 23,913,893 (GRCm39) V128I probably benign Het
Tdrd3 A G 14: 87,743,717 (GRCm39) N555S probably benign Het
Themis C T 10: 28,544,582 (GRCm39) probably benign Het
Tjp1 A G 7: 64,964,010 (GRCm39) V945A possibly damaging Het
Tom1 G A 8: 75,778,151 (GRCm39) V78I probably damaging Het
Usp13 A G 3: 32,935,542 (GRCm39) T323A probably benign Het
Usp49 T C 17: 47,984,236 (GRCm39) S414P possibly damaging Het
Vmn1r104 G A 7: 20,268,378 (GRCm39) S206N probably damaging Het
Vps45 A T 3: 95,940,125 (GRCm39) V446E probably benign Het
Wwc1 T C 11: 35,782,331 (GRCm39) K222R probably benign Het
Zc3h13 CAGAGACCGGGACAGAAGGAGAGAC CAGAGAC 14: 75,569,381 (GRCm39) probably benign Het
Other mutations in Mybpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Mybpc1 APN 10 88,385,124 (GRCm39) missense probably damaging 0.98
IGL00577:Mybpc1 APN 10 88,372,246 (GRCm39) missense probably damaging 1.00
IGL00703:Mybpc1 APN 10 88,360,970 (GRCm39) splice site probably null
IGL00964:Mybpc1 APN 10 88,391,604 (GRCm39) critical splice acceptor site probably null
IGL01738:Mybpc1 APN 10 88,406,507 (GRCm39) missense probably damaging 1.00
IGL01978:Mybpc1 APN 10 88,367,632 (GRCm39) missense probably damaging 1.00
IGL02255:Mybpc1 APN 10 88,372,290 (GRCm39) missense probably damaging 1.00
IGL02997:Mybpc1 APN 10 88,362,235 (GRCm39) missense probably damaging 1.00
R0098:Mybpc1 UTSW 10 88,365,426 (GRCm39) missense probably benign 0.02
R0240:Mybpc1 UTSW 10 88,391,600 (GRCm39) missense possibly damaging 0.59
R0240:Mybpc1 UTSW 10 88,391,600 (GRCm39) missense possibly damaging 0.59
R0449:Mybpc1 UTSW 10 88,376,822 (GRCm39) missense probably damaging 1.00
R0879:Mybpc1 UTSW 10 88,407,378 (GRCm39) splice site probably benign
R1321:Mybpc1 UTSW 10 88,406,463 (GRCm39) missense probably damaging 1.00
R1321:Mybpc1 UTSW 10 88,365,403 (GRCm39) missense possibly damaging 0.85
R1562:Mybpc1 UTSW 10 88,389,193 (GRCm39) missense probably damaging 1.00
R1783:Mybpc1 UTSW 10 88,406,430 (GRCm39) missense probably damaging 1.00
R1803:Mybpc1 UTSW 10 88,389,157 (GRCm39) missense possibly damaging 0.65
R1962:Mybpc1 UTSW 10 88,384,688 (GRCm39) missense probably damaging 1.00
R1972:Mybpc1 UTSW 10 88,387,404 (GRCm39) missense probably benign 0.00
R2006:Mybpc1 UTSW 10 88,381,921 (GRCm39) missense probably damaging 0.99
R2125:Mybpc1 UTSW 10 88,409,299 (GRCm39) nonsense probably null
R2129:Mybpc1 UTSW 10 88,387,314 (GRCm39) missense probably damaging 1.00
R2163:Mybpc1 UTSW 10 88,376,804 (GRCm39) splice site probably benign
R2200:Mybpc1 UTSW 10 88,391,557 (GRCm39) missense probably damaging 1.00
R2219:Mybpc1 UTSW 10 88,391,540 (GRCm39) missense probably damaging 1.00
R2270:Mybpc1 UTSW 10 88,387,269 (GRCm39) missense probably benign 0.01
R2961:Mybpc1 UTSW 10 88,367,641 (GRCm39) missense probably damaging 1.00
R3767:Mybpc1 UTSW 10 88,406,521 (GRCm39) splice site probably null
R4032:Mybpc1 UTSW 10 88,365,426 (GRCm39) missense probably benign 0.02
R4226:Mybpc1 UTSW 10 88,409,387 (GRCm39) nonsense probably null
R4821:Mybpc1 UTSW 10 88,384,727 (GRCm39) missense probably damaging 0.98
R4876:Mybpc1 UTSW 10 88,372,286 (GRCm39) missense probably benign 0.03
R4876:Mybpc1 UTSW 10 88,358,853 (GRCm39) missense probably benign
R4878:Mybpc1 UTSW 10 88,387,292 (GRCm39) missense possibly damaging 0.95
R4910:Mybpc1 UTSW 10 88,391,586 (GRCm39) nonsense probably null
R4913:Mybpc1 UTSW 10 88,389,116 (GRCm39) critical splice donor site probably null
R4964:Mybpc1 UTSW 10 88,391,525 (GRCm39) missense probably benign 0.31
R5023:Mybpc1 UTSW 10 88,379,636 (GRCm39) missense probably damaging 1.00
R5098:Mybpc1 UTSW 10 88,381,926 (GRCm39) missense probably damaging 1.00
R5196:Mybpc1 UTSW 10 88,372,213 (GRCm39) missense probably damaging 0.97
R5344:Mybpc1 UTSW 10 88,406,430 (GRCm39) missense probably damaging 1.00
R5399:Mybpc1 UTSW 10 88,358,876 (GRCm39) missense probably damaging 1.00
R5538:Mybpc1 UTSW 10 88,381,891 (GRCm39) missense possibly damaging 0.89
R5808:Mybpc1 UTSW 10 88,406,428 (GRCm39) missense possibly damaging 0.83
R5970:Mybpc1 UTSW 10 88,378,318 (GRCm39) missense probably damaging 1.00
R6324:Mybpc1 UTSW 10 88,404,481 (GRCm39) missense possibly damaging 0.56
R6433:Mybpc1 UTSW 10 88,396,217 (GRCm39) missense probably damaging 1.00
R6441:Mybpc1 UTSW 10 88,389,139 (GRCm39) missense probably benign 0.09
R6648:Mybpc1 UTSW 10 88,358,861 (GRCm39) missense probably damaging 0.96
R6844:Mybpc1 UTSW 10 88,372,243 (GRCm39) missense possibly damaging 0.50
R6931:Mybpc1 UTSW 10 88,378,192 (GRCm39) nonsense probably null
R6972:Mybpc1 UTSW 10 88,396,223 (GRCm39) missense possibly damaging 0.50
R6973:Mybpc1 UTSW 10 88,396,223 (GRCm39) missense possibly damaging 0.50
R6978:Mybpc1 UTSW 10 88,358,886 (GRCm39) missense probably damaging 1.00
R7007:Mybpc1 UTSW 10 88,389,274 (GRCm39) missense probably damaging 1.00
R7019:Mybpc1 UTSW 10 88,379,581 (GRCm39) missense probably damaging 1.00
R7407:Mybpc1 UTSW 10 88,385,209 (GRCm39) missense probably damaging 0.99
R7442:Mybpc1 UTSW 10 88,362,155 (GRCm39) missense probably damaging 1.00
R7577:Mybpc1 UTSW 10 88,385,187 (GRCm39) missense probably damaging 1.00
R7660:Mybpc1 UTSW 10 88,384,716 (GRCm39) missense possibly damaging 0.51
R7768:Mybpc1 UTSW 10 88,378,234 (GRCm39) missense probably damaging 1.00
R7818:Mybpc1 UTSW 10 88,394,529 (GRCm39) missense probably damaging 1.00
R8171:Mybpc1 UTSW 10 88,358,865 (GRCm39) missense probably damaging 1.00
R8195:Mybpc1 UTSW 10 88,394,553 (GRCm39) missense possibly damaging 0.47
R8241:Mybpc1 UTSW 10 88,372,286 (GRCm39) missense probably benign 0.03
R8360:Mybpc1 UTSW 10 88,409,359 (GRCm39) nonsense probably null
R8494:Mybpc1 UTSW 10 88,362,291 (GRCm39) missense probably benign 0.01
R8849:Mybpc1 UTSW 10 88,407,447 (GRCm39) missense probably benign 0.01
R8936:Mybpc1 UTSW 10 88,394,437 (GRCm39) missense probably benign 0.44
R9031:Mybpc1 UTSW 10 88,358,906 (GRCm39) missense probably damaging 0.99
R9061:Mybpc1 UTSW 10 88,391,501 (GRCm39) missense probably damaging 1.00
R9172:Mybpc1 UTSW 10 88,379,615 (GRCm39) missense possibly damaging 0.93
R9323:Mybpc1 UTSW 10 88,360,829 (GRCm39) critical splice donor site probably null
R9460:Mybpc1 UTSW 10 88,372,197 (GRCm39) missense probably damaging 0.99
R9488:Mybpc1 UTSW 10 88,379,624 (GRCm39) missense possibly damaging 0.47
R9757:Mybpc1 UTSW 10 88,372,257 (GRCm39) missense probably damaging 1.00
R9796:Mybpc1 UTSW 10 88,406,497 (GRCm39) missense possibly damaging 0.56
Z1176:Mybpc1 UTSW 10 88,396,189 (GRCm39) missense probably benign
Z1177:Mybpc1 UTSW 10 88,409,299 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGAGACCTGAGTCCAATTCTAC -3'
(R):5'- TCTGTTAGGAACCTTGAAGACTC -3'

Sequencing Primer
(F):5'- GACCTGAGTCCAATTCTACATATTTC -3'
(R):5'- ACATTTAGTTCCTGGAATTAAAGGG -3'
Posted On 2021-11-19