Incidental Mutation 'R4878:Mybpc1'
ID |
375071 |
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 |
042487-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.837)
|
Stock # |
R4878 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88387292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 473
(Q473R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
AlphaFold |
A0A571BEN1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000119185
AA Change: Q459R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000112699 Gene: ENSMUSG00000020061 AA Change: Q459R
Domain | Start | End | E-Value | Type |
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: Q473R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112615 Gene: ENSMUSG00000020061 AA Change: Q473R
Domain | Start | End | E-Value | Type |
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 |
unknown
Transcript: ENSMUST00000156573
AA Change: Q98R
|
SMART Domains |
Protein: ENSMUSP00000119024 Gene: ENSMUSG00000020061 AA Change: Q98R
Domain | Start | End | E-Value | Type |
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 |
|
Meta Mutation Damage Score |
0.0856 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
96% (70/73) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
C |
A |
4: 144,340,415 (GRCm39) |
H47N |
possibly damaging |
Het |
Adgrg3 |
A |
T |
8: 95,761,714 (GRCm39) |
N159I |
possibly damaging |
Het |
Agrn |
A |
T |
4: 156,255,302 (GRCm39) |
L1449Q |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Atg2a |
A |
T |
19: 6,300,274 (GRCm39) |
E694V |
probably damaging |
Het |
Ccndbp1 |
T |
A |
2: 120,845,172 (GRCm39) |
L363* |
probably null |
Het |
Cdh16 |
A |
T |
8: 105,344,696 (GRCm39) |
D478E |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,246,252 (GRCm39) |
W735R |
probably benign |
Het |
Cnnm2 |
C |
T |
19: 46,847,522 (GRCm39) |
P682S |
probably benign |
Het |
Daam2 |
C |
A |
17: 49,767,738 (GRCm39) |
R951L |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 49,984,543 (GRCm39) |
F180I |
probably damaging |
Het |
Dnajc6 |
T |
C |
4: 101,456,231 (GRCm39) |
|
probably benign |
Het |
Efemp2 |
A |
T |
19: 5,530,789 (GRCm39) |
|
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,410 (GRCm39) |
D217G |
probably benign |
Het |
Enpep |
A |
T |
3: 129,070,420 (GRCm39) |
M829K |
probably benign |
Het |
Epb41l4a |
A |
G |
18: 33,931,625 (GRCm39) |
V623A |
probably damaging |
Het |
Erlin2 |
T |
A |
8: 27,517,194 (GRCm39) |
|
probably null |
Het |
Fbln2 |
T |
C |
6: 91,233,977 (GRCm39) |
|
probably null |
Het |
Gga3 |
A |
T |
11: 115,482,147 (GRCm39) |
I157N |
probably damaging |
Het |
Gtpbp6 |
C |
T |
5: 110,255,177 (GRCm39) |
|
probably benign |
Het |
Hps4 |
T |
C |
5: 112,523,234 (GRCm39) |
V584A |
probably benign |
Het |
Ighv1-50 |
T |
C |
12: 115,083,567 (GRCm39) |
Y51C |
probably benign |
Het |
Kif13b |
T |
C |
14: 65,043,603 (GRCm39) |
L1801P |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,689,923 (GRCm39) |
I330V |
probably damaging |
Het |
Klb |
A |
T |
5: 65,505,833 (GRCm39) |
R27W |
probably damaging |
Het |
Lrif1 |
A |
T |
3: 106,642,956 (GRCm39) |
K169M |
probably damaging |
Het |
Lrrc37 |
A |
G |
11: 103,508,717 (GRCm39) |
|
probably benign |
Het |
Met |
A |
G |
6: 17,549,058 (GRCm39) |
D970G |
probably damaging |
Het |
Mical3 |
A |
T |
6: 120,946,348 (GRCm39) |
M1051K |
possibly damaging |
Het |
Mios |
A |
G |
6: 8,215,094 (GRCm39) |
N97D |
probably benign |
Het |
Msh5 |
G |
A |
17: 35,257,432 (GRCm39) |
R321C |
probably damaging |
Het |
Ncoa1 |
C |
T |
12: 4,325,004 (GRCm39) |
G970D |
probably damaging |
Het |
Neb |
T |
C |
2: 52,109,406 (GRCm39) |
Y232C |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,891,333 (GRCm39) |
S429P |
probably damaging |
Het |
Notch3 |
C |
T |
17: 32,366,059 (GRCm39) |
G1014D |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,587,323 (GRCm39) |
C859S |
probably benign |
Het |
Or1d2 |
T |
C |
11: 74,255,674 (GRCm39) |
Y60H |
probably damaging |
Het |
Or2n1d |
T |
G |
17: 38,646,518 (GRCm39) |
F157V |
probably benign |
Het |
Or5m3b |
A |
G |
2: 85,871,799 (GRCm39) |
I47V |
probably benign |
Het |
Otud7b |
T |
A |
3: 96,043,821 (GRCm39) |
|
probably benign |
Het |
Pde1a |
A |
T |
2: 79,708,483 (GRCm39) |
S312T |
probably benign |
Het |
Piwil1 |
G |
T |
5: 128,818,045 (GRCm39) |
R94L |
probably damaging |
Het |
Pnma2 |
G |
A |
14: 67,154,503 (GRCm39) |
W309* |
probably null |
Het |
Ppef2 |
A |
C |
5: 92,376,599 (GRCm39) |
|
probably null |
Het |
Rabac1 |
T |
A |
7: 24,669,392 (GRCm39) |
Q212L |
possibly damaging |
Het |
Rad51 |
T |
C |
2: 118,950,973 (GRCm39) |
|
probably benign |
Het |
Rbm48 |
A |
T |
5: 3,641,853 (GRCm39) |
|
probably benign |
Het |
Rft1 |
C |
T |
14: 30,399,761 (GRCm39) |
S315L |
probably benign |
Het |
Rgs13 |
C |
T |
1: 144,047,217 (GRCm39) |
M1I |
probably null |
Het |
Rhbg |
A |
C |
3: 88,154,760 (GRCm39) |
S215A |
probably benign |
Het |
Rufy2 |
A |
T |
10: 62,837,990 (GRCm39) |
N379I |
probably damaging |
Het |
Slc17a1 |
T |
C |
13: 24,064,637 (GRCm39) |
L367P |
probably damaging |
Het |
Slc25a39 |
G |
A |
11: 102,294,501 (GRCm39) |
R308C |
probably benign |
Het |
Smo |
A |
G |
6: 29,753,570 (GRCm39) |
T149A |
probably benign |
Het |
Sqle |
A |
G |
15: 59,187,934 (GRCm39) |
K81E |
probably benign |
Het |
Tfpi |
A |
G |
2: 84,282,899 (GRCm39) |
|
probably null |
Het |
Tnk2 |
A |
G |
16: 32,498,448 (GRCm39) |
D572G |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,006,808 (GRCm39) |
M1149K |
probably benign |
Het |
Utrn |
T |
A |
10: 12,603,502 (GRCm39) |
Q626L |
probably damaging |
Het |
Virma |
T |
A |
4: 11,544,971 (GRCm39) |
H1643Q |
probably damaging |
Het |
Wnt3 |
G |
T |
11: 103,699,031 (GRCm39) |
G46C |
possibly damaging |
Het |
Zkscan7 |
G |
T |
9: 122,719,865 (GRCm39) |
G184* |
probably null |
Het |
|
Other mutations in Mybpc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
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'- GGCTGATACGCCATGGTTTG -3'
(R):5'- TGTGAAATGCCACCATGGTCG -3'
Sequencing Primer
(F):5'- ACGCCATGGTTTGAGGTATAGATAC -3'
(R):5'- CACCATGGTCGCTTGTCTGG -3'
|
Posted On |
2016-03-17 |