Incidental Mutation 'R7007:Mybpc1'
ID 544776
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 045109-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R7007 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 88354141-88441014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88389274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 379 (G379S)
Ref Sequence ENSEMBL: ENSMUSP00000112615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119185] [ENSMUST00000121629]
AlphaFold A0A571BEN1
Predicted Effect probably damaging
Transcript: ENSMUST00000119185
AA Change: G365S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: G365S

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: G379S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: G379S

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: G4S

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: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (63/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 35,817,121 (GRCm39) T57I probably benign Het
Adcy8 T C 15: 64,576,565 (GRCm39) N999S possibly damaging Het
Adgrv1 T A 13: 81,684,483 (GRCm39) I1073F possibly damaging Het
Akap3 A G 6: 126,843,439 (GRCm39) D686G probably damaging Het
Alg2 A T 4: 47,471,881 (GRCm39) I309N probably benign Het
Ankrd36 A G 11: 5,639,168 (GRCm39) E1360G probably benign Het
Aox1 C A 1: 58,370,051 (GRCm39) Q788K probably damaging Het
Apoc2 A T 7: 19,407,282 (GRCm39) D26E possibly damaging Het
Bbx G A 16: 50,022,851 (GRCm39) T703I possibly damaging Het
C2cd4d T C 3: 94,271,378 (GRCm39) Y215H probably benign Het
C3 C T 17: 57,525,809 (GRCm39) E858K probably benign Het
Ciita T C 16: 10,329,171 (GRCm39) L482P probably damaging Het
Cldn9 T C 17: 23,902,052 (GRCm39) E191G probably benign Het
Cnst T A 1: 179,438,133 (GRCm39) S566T probably damaging Het
Col5a2 A G 1: 45,417,609 (GRCm39) I1322T possibly damaging Het
Cp G A 3: 20,024,137 (GRCm39) V326M probably damaging Het
Cyp7b1 G A 3: 18,151,782 (GRCm39) Q144* probably null Het
Dnah10 T C 5: 124,864,490 (GRCm39) S2232P probably damaging Het
Dnah17 T C 11: 118,009,697 (GRCm39) E625G possibly damaging Het
Dnah7c T A 1: 46,571,910 (GRCm39) D794E probably benign Het
Dusp10 G A 1: 183,769,414 (GRCm39) V127M probably benign Het
Dysf G C 6: 84,090,962 (GRCm39) W1015C probably damaging Het
Fbxw17 T C 13: 50,577,808 (GRCm39) Y104H probably damaging Het
Gm6408 G A 5: 146,420,647 (GRCm39) E176K probably damaging Het
Gp1bb T A 16: 18,439,689 (GRCm39) D135V possibly damaging Het
Gprin1 C T 13: 54,886,069 (GRCm39) C735Y probably damaging Het
Heatr9 T A 11: 83,411,446 (GRCm39) M30L possibly damaging Het
Hhat G A 1: 192,376,134 (GRCm39) T333I possibly damaging Het
Htr5b A G 1: 121,438,223 (GRCm39) F336S probably damaging Het
Ippk T G 13: 49,590,181 (GRCm39) probably null Het
Jph1 T A 1: 17,074,410 (GRCm39) H11L possibly damaging Het
Kif12 T A 4: 63,084,717 (GRCm39) I534L probably benign Het
Lemd3 A T 10: 120,788,137 (GRCm39) F523I probably benign Het
Lgsn C A 1: 31,229,508 (GRCm39) H76Q probably benign Het
Lipm T A 19: 34,089,497 (GRCm39) W152R probably damaging Het
Mei1 A T 15: 81,978,200 (GRCm39) R216W probably damaging Het
Myh8 A G 11: 67,179,142 (GRCm39) T512A probably benign Het
Nf1 A G 11: 79,337,849 (GRCm39) probably null Het
Npc1 T C 18: 12,343,605 (GRCm39) T463A probably benign Het
Or12e10 A G 2: 87,640,230 (GRCm39) N22S probably damaging Het
Or2y13 G A 11: 49,415,011 (GRCm39) V154M probably benign Het
Or6c7 A T 10: 129,323,277 (GRCm39) I133F probably damaging Het
Osbpl11 T G 16: 33,047,309 (GRCm39) I424R possibly damaging Het
Pnma8b A T 7: 16,680,181 (GRCm39) K388N possibly damaging Het
Ppp1r26 A T 2: 28,341,171 (GRCm39) K267I probably damaging Het
Psmb5 A T 14: 54,854,166 (GRCm39) M104K probably damaging Het
Ptges2 T C 2: 32,292,318 (GRCm39) V378A probably benign Het
Rcan2 C T 17: 44,147,216 (GRCm39) S18F probably benign Het
Saxo5 A T 8: 3,526,309 (GRCm39) D154V probably damaging Het
Sf3b2 C T 19: 5,324,545 (GRCm39) R859Q probably benign Het
Slc7a1 G A 5: 148,289,256 (GRCm39) Het
Spata31d1a T A 13: 59,851,448 (GRCm39) T227S probably benign Het
Sptbn2 T A 19: 4,794,173 (GRCm39) V1459E possibly damaging Het
Srgap2 T C 1: 131,247,275 (GRCm39) I586V probably benign Het
St6galnac1 G A 11: 116,657,833 (GRCm39) R356* probably null Het
Taf5 T A 19: 47,059,650 (GRCm39) F265I probably damaging Het
Tkfc T A 19: 10,573,727 (GRCm39) I229L probably benign Het
Tmem132c T A 5: 127,436,679 (GRCm39) L56Q probably damaging Het
Togaram2 C T 17: 72,016,638 (GRCm39) A665V probably damaging Het
Ttn G A 2: 76,537,390 (GRCm39) T34846I probably benign Het
Tyr G A 7: 87,142,548 (GRCm39) A4V probably benign Het
Ubap2 A C 4: 41,206,221 (GRCm39) F549L probably damaging Het
Usp2 T C 9: 44,001,339 (GRCm39) S294P probably damaging Het
Vrk3 A G 7: 44,407,187 (GRCm39) N53D probably damaging Het
Zfp324 T C 7: 12,705,142 (GRCm39) S444P probably damaging Het
Zfp597 T C 16: 3,683,791 (GRCm39) I322V 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
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
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'- GAGCCGTACTTACAGTCAACGC -3'
(R):5'- TAGGAACCTTGAAGACTCTGC -3'

Sequencing Primer
(F):5'- ACAGTCAACGCTGAGTTTGGC -3'
(R):5'- ACATTTAGTTCCTGGAATTAAAGGG -3'
Posted On 2019-05-13