Incidental Mutation 'R7818:Mybpc1'
ID 601681
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 045872-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R7818 (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 A at 88394529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 266 (D266V)
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: D252V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: D252V

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: D266V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: D266V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 99% (88/89)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,215,519 (GRCm39) R342S probably benign Het
Aatk C T 11: 119,912,281 (GRCm39) V55I probably benign Het
Abhd10 T A 16: 45,557,916 (GRCm39) I128L probably benign Het
Abraxas1 T A 5: 100,954,176 (GRCm39) M325L probably benign Het
Adgrb2 C A 4: 129,908,353 (GRCm39) L1087I probably damaging Het
Adgrb2 C T 4: 129,908,762 (GRCm39) P1124S possibly damaging Het
Akap9 T A 5: 4,063,875 (GRCm39) Y1741* probably null Het
Ap1g2 A T 14: 55,337,181 (GRCm39) V718D probably benign Het
Asph A T 4: 9,475,015 (GRCm39) M637K probably damaging Het
Atp2c1 T C 9: 105,291,956 (GRCm39) I869V probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cacna1e T C 1: 154,274,152 (GRCm39) D2251G probably damaging Het
Camk2b A G 11: 5,927,812 (GRCm39) S413P probably benign Het
Casz1 G A 4: 149,030,533 (GRCm39) C1184Y probably damaging Het
Cbr4 G A 8: 61,940,976 (GRCm39) V32I probably benign Het
Ccdc166 A G 15: 75,852,864 (GRCm39) S368P possibly damaging Het
Ccdc170 A G 10: 4,499,603 (GRCm39) N508S probably benign Het
Ccdc187 A G 2: 26,166,186 (GRCm39) S748P possibly damaging Het
Cdca8 A T 4: 124,820,456 (GRCm39) probably null Het
Cep120 T C 18: 53,856,175 (GRCm39) D414G probably benign Het
Dcp1a G T 14: 30,201,678 (GRCm39) A34S probably damaging Het
Ddit3 C T 10: 127,131,662 (GRCm39) T70I probably benign Het
Dlg2 C G 7: 91,589,225 (GRCm39) A313G probably damaging Het
Dnah9 A T 11: 65,916,037 (GRCm39) V2305D possibly damaging Het
Dock1 T A 7: 134,365,594 (GRCm39) D427E probably damaging Het
Dolpp1 T C 2: 30,286,503 (GRCm39) L141P probably benign Het
Dsc2 A T 18: 20,183,189 (GRCm39) D76E probably damaging Het
Dusp7 C A 9: 106,246,329 (GRCm39) N111K probably benign Het
Fam193a A G 5: 34,622,997 (GRCm39) E1195G possibly damaging Het
Fig4 A G 10: 41,139,162 (GRCm39) L347P probably damaging Het
Frem1 T C 4: 82,932,245 (GRCm39) E152G probably damaging Het
Galnt2 G T 8: 125,056,527 (GRCm39) D234Y probably damaging Het
H1f3 C T 13: 23,739,165 (GRCm39) probably benign Het
Igkv4-59 T C 6: 69,415,475 (GRCm39) T27A possibly damaging Het
Ihh T C 1: 74,985,804 (GRCm39) D227G possibly damaging Het
Il1rap T A 16: 26,517,597 (GRCm39) C266S probably damaging Het
Iqcf4 A T 9: 106,447,738 (GRCm39) L57* probably null Het
Kif2b A G 11: 91,466,952 (GRCm39) S444P probably damaging Het
Lmf1 T G 17: 25,881,565 (GRCm39) I538S probably benign Het
Mical2 A G 7: 111,944,514 (GRCm39) Y948C probably damaging Het
Mr1 G A 1: 155,006,382 (GRCm39) Q322* probably null Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mup6 A G 4: 60,004,884 (GRCm39) T100A probably benign Het
Myocos T C 1: 162,475,063 (GRCm39) N48S unknown Het
Naf1 G A 8: 67,342,028 (GRCm39) G551E probably damaging Het
Nrarp A G 2: 25,071,250 (GRCm39) N43S possibly damaging Het
Or4a80 A G 2: 89,582,288 (GRCm39) S295P possibly damaging Het
Or5p52 G A 7: 107,502,230 (GRCm39) C102Y probably benign Het
Or7a40 A C 16: 16,491,437 (GRCm39) M136R probably damaging Het
Or7g19 T A 9: 18,856,305 (GRCm39) Y120* probably null Het
Or8b57 T A 9: 40,004,008 (GRCm39) M85L probably damaging Het
Padi3 T A 4: 140,525,453 (GRCm39) T177S possibly damaging Het
Pde3b A G 7: 114,090,675 (GRCm39) M305V probably damaging Het
Pde6a T A 18: 61,414,580 (GRCm39) probably null Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Prph A G 15: 98,955,753 (GRCm39) T446A probably damaging Het
Pwwp2b T C 7: 138,835,240 (GRCm39) V227A probably benign Het
Rev3l T C 10: 39,699,898 (GRCm39) I1465T possibly damaging Het
Rin1 A G 19: 5,102,219 (GRCm39) S243G probably benign Het
Ripor3 A T 2: 167,831,346 (GRCm39) I485N probably benign Het
Rnpc3 G T 3: 113,423,600 (GRCm39) P35Q probably damaging Het
Sbpl G T 17: 24,172,236 (GRCm39) Q228K unknown Het
Scn11a A C 9: 119,613,177 (GRCm39) N804K probably damaging Het
Selenoo A G 15: 88,981,019 (GRCm39) T453A probably damaging Het
Sez6 C T 11: 77,867,728 (GRCm39) P882S probably damaging Het
Skint5 C T 4: 113,799,923 (GRCm39) R82H possibly damaging Het
Slc18a2 A C 19: 59,251,593 (GRCm39) T115P probably benign Het
Slc1a2 A G 2: 102,574,301 (GRCm39) D237G probably benign Het
Spidr T C 16: 15,932,729 (GRCm39) S184G probably damaging Het
Stag3 A T 5: 138,299,705 (GRCm39) Q872L probably benign Het
Suds3 T C 5: 117,253,814 (GRCm39) probably benign Het
Sv2c T A 13: 96,123,328 (GRCm39) K382* probably null Het
Taf2 T C 15: 54,929,326 (GRCm39) I77V probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tdrd3 G T 14: 87,709,636 (GRCm39) C100F probably damaging Het
Tek T A 4: 94,715,953 (GRCm39) H458Q possibly damaging Het
Tes C A 6: 17,099,743 (GRCm39) P246Q probably damaging Het
Tgif1 A T 17: 71,156,603 (GRCm39) probably null Het
Tlr11 A T 14: 50,599,285 (GRCm39) N424Y probably damaging Het
Tmc8 A T 11: 117,682,953 (GRCm39) N626I probably damaging Het
Tmem132c T A 5: 127,641,152 (GRCm39) *1108K probably null Het
Tnks A T 8: 35,340,182 (GRCm39) Y479N probably benign Het
Trip12 C T 1: 84,738,527 (GRCm39) G776D probably damaging Het
Tssk1 A G 16: 17,712,311 (GRCm39) E32G probably benign Het
Ube2o T C 11: 116,434,736 (GRCm39) D575G probably damaging Het
Uckl1 A T 2: 181,216,460 (GRCm39) M16K probably damaging Het
Zfp948 A T 17: 21,807,985 (GRCm39) E392D probably benign Het
Zmynd8 G A 2: 165,684,751 (GRCm39) T167I probably damaging 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
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'- GACATATGCCCAGAAAGTTCTTCG -3'
(R):5'- TCCGCATGTCAACAAAACTCTG -3'

Sequencing Primer
(F):5'- ATATGCCCAGAAAGTTCTTCGATTCC -3'
(R):5'- ACACAGTAATTGGGAAGGCTTC -3'
Posted On 2019-12-03