Incidental Mutation 'R9488:Mybpc1'
ID 716760
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R9488 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 88354141-88441014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88379624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 625 (M625K)
Ref Sequence ENSEMBL: ENSMUSP00000112699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119185] [ENSMUST00000121629]
AlphaFold A0A571BEN1
Predicted Effect possibly damaging
Transcript: ENSMUST00000119185
AA Change: M625K

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: M625K

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 possibly damaging
Transcript: ENSMUST00000121629
AA Change: M639K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: M639K

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: M264K

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,643,212 (GRCm39) I294L probably benign Het
Ankrd35 A T 3: 96,589,343 (GRCm39) K187N probably damaging Het
Arhgap40 C T 2: 158,391,571 (GRCm39) T631M possibly damaging Het
Arpin T C 7: 79,584,979 (GRCm39) Y5C probably damaging Het
B020011L13Rik A G 1: 117,728,724 (GRCm39) Y77C Het
Cdk17 A G 10: 93,044,066 (GRCm39) K2E probably damaging Het
Cdk18 A G 1: 132,049,260 (GRCm39) F86L probably benign Het
Cfap418 A G 4: 10,893,271 (GRCm39) D130G probably damaging Het
Clca4a T C 3: 144,659,532 (GRCm39) T775A probably damaging Het
Clvs2 T A 10: 33,389,301 (GRCm39) D313V possibly damaging Het
Col6a5 T C 9: 105,741,788 (GRCm39) Y2377C probably damaging Het
Drd2 T C 9: 49,311,094 (GRCm39) V115A probably damaging Het
Dsp A G 13: 38,377,218 (GRCm39) R1668G probably benign Het
Eif2d T A 1: 131,082,962 (GRCm39) V102E probably damaging Het
Fmo4 A G 1: 162,631,337 (GRCm39) V210A probably damaging Het
Galntl5 A G 5: 25,415,437 (GRCm39) R323G probably damaging Het
Git2 T C 5: 114,904,533 (GRCm39) T129A probably benign Het
Gm572 A G 4: 148,752,913 (GRCm39) H264R possibly damaging Het
Hnrnpll T C 17: 80,369,385 (GRCm39) T13A unknown Het
Ighv7-4 T C 12: 114,186,619 (GRCm39) Y51C probably damaging Het
Irag2 G A 6: 145,113,753 (GRCm39) R307Q probably damaging Het
Jam2 A G 16: 84,619,676 (GRCm39) D289G probably damaging Het
Krt27 A G 11: 99,239,535 (GRCm39) probably null Het
Lama5 T C 2: 179,823,234 (GRCm39) N2704S possibly damaging Het
Lhx8 A T 3: 154,033,764 (GRCm39) S70T possibly damaging Het
Lmo7 C A 14: 102,122,783 (GRCm39) T324N possibly damaging Het
Man2a1 A G 17: 65,040,734 (GRCm39) T907A possibly damaging Het
Map3k4 C T 17: 12,489,860 (GRCm39) A524T probably damaging Het
Mga C T 2: 119,795,304 (GRCm39) A2996V possibly damaging Het
Ncald T A 15: 37,372,369 (GRCm39) N159Y probably damaging Het
Nfasc T C 1: 132,527,866 (GRCm39) T832A possibly damaging Het
P2rx5 T A 11: 73,056,427 (GRCm39) I117N Het
Pcdhb3 C A 18: 37,435,416 (GRCm39) R461S possibly damaging Het
Polr1b T C 2: 128,967,417 (GRCm39) S937P probably damaging Het
Prep C A 10: 44,996,807 (GRCm39) Q362K Het
Prg4 T C 1: 150,327,024 (GRCm39) M342V probably benign Het
Prr14 A T 7: 127,073,687 (GRCm39) T184S possibly damaging Het
Prss58 A G 6: 40,874,382 (GRCm39) I98T probably benign Het
Pum3 T C 19: 27,394,188 (GRCm39) T361A probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,129 (GRCm39) probably benign Het
Sema4c A G 1: 36,591,067 (GRCm39) V424A probably benign Het
Sema6a A T 18: 47,437,216 (GRCm39) I58N probably damaging Het
Slc13a3 T A 2: 165,250,851 (GRCm39) Y506F probably damaging Het
Slc15a2 A G 16: 36,579,651 (GRCm39) V365A probably benign Het
Slc39a5 G A 10: 128,233,628 (GRCm39) L290F probably damaging Het
Spata31f1a A G 4: 42,850,560 (GRCm39) V532A probably benign Het
Taf6l T C 19: 8,759,436 (GRCm39) T161A probably benign Het
Tbl2 T A 5: 135,187,471 (GRCm39) C243S probably benign Het
Tet2 A T 3: 133,193,103 (GRCm39) S444T probably benign Het
Thoc1 C T 18: 9,992,168 (GRCm39) L499F probably damaging Het
Tnc A G 4: 63,913,942 (GRCm39) V1290A probably damaging Het
Tnpo1 T C 13: 98,990,003 (GRCm39) D716G probably damaging Het
Tpp2 A T 1: 44,041,272 (GRCm39) K1236N probably benign Het
Tshr T C 12: 91,504,589 (GRCm39) V509A probably damaging Het
U2surp T C 9: 95,356,535 (GRCm39) T775A Het
Ubap2l T C 3: 89,928,656 (GRCm39) T486A probably benign Het
Usp28 C A 9: 48,935,288 (GRCm39) P457T probably damaging Het
Usp44 A G 10: 93,682,851 (GRCm39) I387V possibly damaging Het
Vmn1r225 A G 17: 20,722,793 (GRCm39) D78G probably damaging Het
Vps13b T C 15: 35,447,880 (GRCm39) M537T possibly damaging Het
Wdr6 G A 9: 108,453,182 (GRCm39) R234C probably damaging Het
Zfp1005 G A 2: 150,110,477 (GRCm39) G389D unknown Het
Zfp949 C A 9: 88,452,182 (GRCm39) T584N 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
R9081:Mybpc1 UTSW 10 88,389,168 (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
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'- TAGTATATTAAGCACCACCTCTTCCT -3'
(R):5'- CACTATACACTTACCTTGTATTGACTT -3'

Sequencing Primer
(F):5'- TACTAAGAGTTGAGTCCAGAGCCTC -3'
(R):5'- CAGATTCTGACTTTCACCCA -3'
Posted On 2022-07-18