Incidental Mutation 'R9460:Mybpc1'
| ID |
714823 |
| 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)
|
| Stock # |
R9460 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88372197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 797
(I797N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
| AlphaFold |
A0A571BEN1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119185
AA Change: I797N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: I797N
| 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 |
probably damaging
Transcript: ENSMUST00000121629
AA Change: I811N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: I811N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122472
Gene: ENSMUSG00000020061
AA Change: I49N
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YUW|A
|
2 |
52 |
2e-25 |
PDB |
|
low complexity region
|
53 |
65 |
N/A |
INTRINSIC |
|
IG
|
68 |
151 |
9.06e-2 |
SMART |
|
FN3
|
154 |
236 |
2.06e-12 |
SMART |
|
IGc2
|
281 |
348 |
1.88e-8 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
AA Change: I454N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
C |
T |
17: 57,183,316 (GRCm39) |
T19I |
probably damaging |
Het |
| Alg1 |
T |
A |
16: 5,060,425 (GRCm39) |
M382K |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,879,286 (GRCm39) |
S822P |
unknown |
Het |
| Bend7 |
A |
C |
2: 4,749,302 (GRCm39) |
T140P |
probably benign |
Het |
| C1rb |
T |
G |
6: 124,557,865 (GRCm39) |
D667E |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,253,750 (GRCm39) |
C794R |
probably damaging |
Het |
| Cd36 |
T |
C |
5: 18,000,608 (GRCm39) |
D365G |
probably null |
Het |
| Cep164 |
T |
C |
9: 45,685,282 (GRCm39) |
N825S |
probably benign |
Het |
| Cp |
T |
C |
3: 20,018,566 (GRCm39) |
L90P |
|
Het |
| Cpeb2 |
C |
T |
5: 43,390,769 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,222,281 (GRCm39) |
S146P |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,617,130 (GRCm39) |
D1019E |
|
Het |
| Cyp2d10 |
T |
A |
15: 82,289,470 (GRCm39) |
D214V |
probably benign |
Het |
| Dcaf17 |
G |
C |
2: 70,917,695 (GRCm39) |
V406L |
possibly damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,728,791 (GRCm39) |
V703A |
probably benign |
Het |
| Ermp1 |
A |
C |
19: 29,609,916 (GRCm39) |
V293G |
probably benign |
Het |
| Fancd2os |
C |
A |
6: 113,574,569 (GRCm39) |
V146F |
probably benign |
Het |
| Galnt12 |
C |
T |
4: 47,117,983 (GRCm39) |
T426I |
probably damaging |
Het |
| Gm11011 |
T |
A |
2: 169,429,289 (GRCm39) |
T44S |
unknown |
Het |
| Gm2832 |
C |
T |
14: 41,000,843 (GRCm39) |
T27I |
|
Het |
| Klhl32 |
A |
G |
4: 24,649,866 (GRCm39) |
V310A |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,941,378 (GRCm39) |
C1728* |
probably null |
Het |
| Lama2 |
T |
A |
10: 27,298,475 (GRCm39) |
N207I |
probably damaging |
Het |
| Lpar5 |
A |
G |
6: 125,058,234 (GRCm39) |
|
probably benign |
Het |
| Map3k8 |
T |
C |
18: 4,349,277 (GRCm39) |
I14V |
probably benign |
Het |
| Marf1 |
A |
T |
16: 13,947,526 (GRCm39) |
V1151E |
probably damaging |
Het |
| Me1 |
G |
A |
9: 86,495,685 (GRCm39) |
A274V |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,372,566 (GRCm39) |
|
probably null |
Het |
| N4bp2 |
A |
T |
5: 65,963,886 (GRCm39) |
D645V |
probably benign |
Het |
| Nlrp4f |
G |
T |
13: 65,342,006 (GRCm39) |
D546E |
possibly damaging |
Het |
| Npc1 |
T |
C |
18: 12,346,398 (GRCm39) |
D266G |
possibly damaging |
Het |
| Or4a81 |
G |
A |
2: 89,618,778 (GRCm39) |
S306L |
probably benign |
Het |
| Or8k16 |
A |
G |
2: 85,520,359 (GRCm39) |
I195M |
probably benign |
Het |
| Pcdha12 |
C |
T |
18: 37,153,574 (GRCm39) |
R98W |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pigr |
T |
C |
1: 130,772,403 (GRCm39) |
I207T |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,700,895 (GRCm39) |
E596D |
probably benign |
Het |
| Polr1e |
C |
T |
4: 45,018,691 (GRCm39) |
P7L |
probably benign |
Het |
| Ppp5c |
G |
T |
7: 16,741,137 (GRCm39) |
Y313* |
probably null |
Het |
| Sacs |
C |
A |
14: 61,441,611 (GRCm39) |
T1219K |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,300,535 (GRCm39) |
V1277A |
probably damaging |
Het |
| Serinc5 |
G |
T |
13: 92,844,607 (GRCm39) |
A450S |
possibly damaging |
Het |
| Serinc5 |
T |
C |
13: 92,844,619 (GRCm39) |
C454R |
probably benign |
Het |
| Slc12a6 |
G |
A |
2: 112,183,280 (GRCm39) |
V771I |
probably benign |
Het |
| Slc4a1ap |
T |
C |
5: 31,685,463 (GRCm39) |
I247T |
probably benign |
Het |
| Snx10 |
T |
A |
6: 51,565,888 (GRCm39) |
S184R |
probably damaging |
Het |
| Tgm2 |
A |
T |
2: 157,971,241 (GRCm39) |
|
probably null |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
T |
C |
1: 130,090,674 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
G |
A |
17: 3,487,585 (GRCm39) |
G702E |
probably damaging |
Het |
| Tmco4 |
T |
A |
4: 138,747,387 (GRCm39) |
V212D |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vipas39 |
A |
G |
12: 87,288,021 (GRCm39) |
L482P |
probably damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,829 (GRCm39) |
M168K |
|
Het |
| Vps13c |
T |
C |
9: 67,837,904 (GRCm39) |
L1818S |
possibly damaging |
Het |
| Vwa2 |
A |
G |
19: 56,886,388 (GRCm39) |
I152V |
probably benign |
Het |
| Zfp180 |
G |
A |
7: 23,804,399 (GRCm39) |
G273R |
probably damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
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 |
|
|
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 |
|
|
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'- CATTTGGCCTTTGCTGGTAC -3'
(R):5'- GATGGCTTCTCTCACTAAACACC -3'
Sequencing Primer
(F):5'- TTTGAGAGGGATCCACTAGCC -3'
(R):5'- CACTAAACACCGTTTCCTGC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation