Incidental Mutation 'R8849:Mybpc1'
ID 674890
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 068672-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R8849 (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 88407447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 87 (M87L)
Ref Sequence ENSEMBL: ENSMUSP00000112699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119185] [ENSMUST00000121629]
AlphaFold A0A571BEN1
Predicted Effect probably benign
Transcript: ENSMUST00000119185
AA Change: M87L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: M87L

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: M101L

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: M101L

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (52/52)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik G A 16: 14,439,376 (GRCm39) probably null Het
Adgrv1 T C 13: 81,669,324 (GRCm39) T2411A probably benign Het
Aldh5a1 T A 13: 25,121,464 (GRCm39) T30S probably benign Het
Alg1 G A 16: 5,051,532 (GRCm39) A7T possibly damaging Het
Ano10 T A 9: 122,090,510 (GRCm39) M268L probably benign Het
Avil T C 10: 126,844,661 (GRCm39) V264A possibly damaging Het
Bicc1 T A 10: 70,782,694 (GRCm39) I558F probably benign Het
Bst1 A T 5: 43,977,927 (GRCm39) H92L possibly damaging Het
C1s2 T C 6: 124,602,754 (GRCm39) N486D probably benign Het
Carmil3 A T 14: 55,734,627 (GRCm39) H452L probably benign Het
Ccser1 T A 6: 61,288,537 (GRCm39) D233E probably benign Het
Ceacam18 G T 7: 43,294,967 (GRCm39) L342F probably benign Het
Cep95 T A 11: 106,707,630 (GRCm39) M691K Het
Cfap221 G A 1: 119,922,874 (GRCm39) P23S probably damaging Het
Ciao2b C T 8: 105,367,599 (GRCm39) probably null Het
Col20a1 T C 2: 180,640,432 (GRCm39) Y572H probably damaging Het
Cr2 C T 1: 194,839,547 (GRCm39) V627M probably damaging Het
Cul2 T A 18: 3,423,551 (GRCm39) H320Q probably benign Het
Ddx5 A T 11: 106,675,975 (GRCm39) V266E probably damaging Het
Dgkd T C 1: 87,846,365 (GRCm39) V336A probably damaging Het
Dnah6 T C 6: 73,121,156 (GRCm39) probably null Het
Dnhd1 C A 7: 105,370,723 (GRCm39) Q4668K probably benign Het
Dock7 C T 4: 98,904,986 (GRCm39) E630K Het
Dolk T C 2: 30,174,935 (GRCm39) E370G probably damaging Het
Ercc6 T A 14: 32,291,565 (GRCm39) L1003Q probably damaging Het
Foxc1 T C 13: 31,992,817 (GRCm39) S543P unknown Het
Gbp2b A C 3: 142,313,913 (GRCm39) M398L probably benign Het
Gigyf2 G T 1: 87,361,592 (GRCm39) R908L unknown Het
Gpr176 T A 2: 118,110,095 (GRCm39) E388V probably damaging Het
Gpx8 C T 13: 113,179,704 (GRCm39) G199E probably benign Het
Gtf2a1l A G 17: 89,001,566 (GRCm39) T141A possibly damaging Het
Ifi208 G A 1: 173,506,184 (GRCm39) probably benign Het
Itgad T A 7: 127,789,157 (GRCm39) probably benign Het
Kif20b C T 19: 34,915,716 (GRCm39) Q498* probably null Het
Lmo7 T C 14: 102,163,543 (GRCm39) Y1463H unknown Het
Mms19 A T 19: 41,952,767 (GRCm39) L114Q probably damaging Het
Mogs T C 6: 83,094,986 (GRCm39) V601A possibly damaging Het
Nhlrc2 T C 19: 56,580,184 (GRCm39) V439A possibly damaging Het
Npc1l1 T A 11: 6,179,038 (GRCm39) H124L probably damaging Het
Opn4 A G 14: 34,318,986 (GRCm39) W200R probably damaging Het
Or2b2b T C 13: 21,858,226 (GRCm39) E296G possibly damaging Het
Pax2 T C 19: 44,749,111 (GRCm39) probably benign Het
Phf20 G T 2: 156,118,440 (GRCm39) Q381H probably damaging Het
Pramel25 A G 4: 143,521,596 (GRCm39) N404S probably damaging Het
Pramel32 T A 4: 88,546,014 (GRCm39) T443S probably benign Het
Pramel34 A T 5: 93,784,197 (GRCm39) H422Q probably benign Het
Rb1 C T 14: 73,434,709 (GRCm39) R903Q probably damaging Het
Scamp4 T A 10: 80,445,266 (GRCm39) V37E probably damaging Het
Sema3e T C 5: 14,302,673 (GRCm39) W733R probably damaging Het
Sertm1 A G 3: 54,806,749 (GRCm39) V92A possibly damaging Het
Slc4a5 T C 6: 83,250,180 (GRCm39) F638L probably damaging Het
Tprn T C 2: 25,159,171 (GRCm39) S703P probably damaging Het
Tulp4 T A 17: 6,272,656 (GRCm39) M570K probably benign Het
Zfp433 T C 10: 81,556,875 (GRCm39) I459T probably benign Het
Zfp697 A G 3: 98,334,943 (GRCm39) E236G 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
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'- TGAATGGTAATGTATTCCCTGAGG -3'
(R):5'- AGCAGATCAGATGGACTTTCC -3'

Sequencing Primer
(F):5'- GGGGGAGGGGCGGAAAC -3'
(R):5'- GCAGATCAGATGGACTTTCCTAAGAC -3'
Posted On 2021-07-15