Incidental Mutation 'R9323:Mybpc1'
| ID |
706334 |
| 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 # |
R9323 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 88360829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
| AlphaFold |
A0A571BEN1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000119185
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
| 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 benign
Transcript: ENSMUST00000121629
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
| 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 |
probably benign
Transcript: ENSMUST00000153964
|
| SMART Domains |
Protein: ENSMUSP00000122472
Gene: ENSMUSG00000020061
| 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 |
probably benign
Transcript: ENSMUST00000156573
|
| SMART Domains |
Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abat |
G |
A |
16: 8,420,235 (GRCm39) |
W178* |
probably null |
Het |
| Alx1 |
G |
A |
10: 102,858,124 (GRCm39) |
R192* |
probably null |
Het |
| Apom |
A |
G |
17: 35,350,633 (GRCm39) |
C23R |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,162,148 (GRCm39) |
N35S |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,682,682 (GRCm39) |
Y43* |
probably null |
Het |
| Atosa |
C |
T |
9: 74,883,415 (GRCm39) |
|
probably benign |
Het |
| Bag4 |
T |
C |
8: 26,261,361 (GRCm39) |
S127G |
possibly damaging |
Het |
| Bag4 |
G |
T |
8: 26,275,180 (GRCm39) |
S7* |
probably null |
Het |
| Ccdc88b |
A |
G |
19: 6,826,475 (GRCm39) |
L1080P |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,828,401 (GRCm39) |
N285K |
probably damaging |
Het |
| Cdkl2 |
A |
T |
5: 92,168,107 (GRCm39) |
D362E |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,586,068 (GRCm39) |
S575P |
probably benign |
Het |
| Col4a2 |
C |
T |
8: 11,493,413 (GRCm39) |
P1374L |
possibly damaging |
Het |
| Cpt2 |
T |
C |
4: 107,761,556 (GRCm39) |
H617R |
probably benign |
Het |
| Cyp2d22 |
A |
G |
15: 82,258,207 (GRCm39) |
S138P |
probably damaging |
Het |
| Cyp2j11 |
T |
C |
4: 96,195,619 (GRCm39) |
D359G |
probably benign |
Het |
| Ddb2 |
T |
C |
2: 91,042,337 (GRCm39) |
S419G |
possibly damaging |
Het |
| Dmrtc2 |
A |
T |
7: 24,572,341 (GRCm39) |
I121F |
probably benign |
Het |
| Dus1l |
C |
T |
11: 120,684,724 (GRCm39) |
R149H |
probably damaging |
Het |
| Fam90a1a |
T |
A |
8: 22,453,640 (GRCm39) |
Y332N |
probably benign |
Het |
| Fbxo47 |
A |
T |
11: 97,770,254 (GRCm39) |
V46D |
probably benign |
Het |
| Grep1 |
A |
G |
17: 23,937,387 (GRCm39) |
S54P |
unknown |
Het |
| Grpel1 |
T |
A |
5: 36,628,007 (GRCm39) |
V96E |
possibly damaging |
Het |
| Ifi207 |
A |
T |
1: 173,555,143 (GRCm39) |
N853K |
probably damaging |
Het |
| Igkv4-80 |
C |
T |
6: 68,993,751 (GRCm39) |
A47T |
probably damaging |
Het |
| Il1a |
T |
A |
2: 129,149,826 (GRCm39) |
I25F |
probably benign |
Het |
| Ireb2 |
T |
A |
9: 54,811,523 (GRCm39) |
|
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,328,979 (GRCm39) |
Y131C |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,261 (GRCm39) |
|
probably benign |
Het |
| Lancl1 |
T |
A |
1: 67,077,794 (GRCm39) |
|
probably benign |
Het |
| Lpl |
G |
A |
8: 69,340,196 (GRCm39) |
V64M |
possibly damaging |
Het |
| Marchf10 |
T |
C |
11: 105,280,581 (GRCm39) |
H568R |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,775,685 (GRCm39) |
V546M |
probably damaging |
Het |
| Mss51 |
A |
T |
14: 20,534,939 (GRCm39) |
I277N |
probably benign |
Het |
| Myct1 |
A |
C |
10: 5,554,195 (GRCm39) |
I21L |
probably benign |
Het |
| Myo5c |
C |
A |
9: 75,153,531 (GRCm39) |
A139E |
probably damaging |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Npy2r |
A |
T |
3: 82,447,728 (GRCm39) |
I349N |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,378,255 (GRCm39) |
I19V |
probably benign |
Het |
| Or10g7 |
T |
C |
9: 39,905,360 (GRCm39) |
S85P |
possibly damaging |
Het |
| Or14j2 |
A |
C |
17: 37,886,135 (GRCm39) |
Y60D |
probably damaging |
Het |
| Or52n20 |
T |
C |
7: 104,320,220 (GRCm39) |
F104L |
possibly damaging |
Het |
| Or5p6 |
C |
T |
7: 107,631,230 (GRCm39) |
V107I |
probably benign |
Het |
| Or6c3b |
A |
T |
10: 129,527,829 (GRCm39) |
V27D |
probably benign |
Het |
| Or8d23 |
T |
C |
9: 38,841,818 (GRCm39) |
V117A |
probably benign |
Het |
| Pde6b |
A |
T |
5: 108,551,298 (GRCm39) |
N194I |
probably damaging |
Het |
| Polg |
TCTGGATGA |
TCTGGATGACTGGATGA |
7: 79,114,779 (GRCm39) |
|
probably null |
Het |
| Polg |
GA |
GACTGGAGCA |
7: 79,114,786 (GRCm39) |
|
probably null |
Het |
| Ptpn9 |
T |
C |
9: 56,934,701 (GRCm39) |
M155T |
possibly damaging |
Het |
| Ret |
A |
G |
6: 118,158,975 (GRCm39) |
Y146H |
probably benign |
Het |
| Sdf2l1 |
T |
C |
16: 16,949,498 (GRCm39) |
H116R |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,981,596 (GRCm39) |
V514A |
probably damaging |
Het |
| Slc37a1 |
T |
C |
17: 31,552,643 (GRCm39) |
I316T |
probably damaging |
Het |
| Slc4a11 |
A |
C |
2: 130,528,830 (GRCm39) |
L473R |
possibly damaging |
Het |
| Smg7 |
A |
G |
1: 152,731,753 (GRCm39) |
M344T |
probably benign |
Het |
| Smg9 |
T |
C |
7: 24,114,465 (GRCm39) |
L268P |
probably damaging |
Het |
| Tiparp |
C |
T |
3: 65,439,272 (GRCm39) |
T196I |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,742,491 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
A |
T |
15: 72,565,431 (GRCm39) |
N953K |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,968,564 (GRCm39) |
V428A |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,583,170 (GRCm39) |
R2728G |
probably damaging |
Het |
| Zfp612 |
A |
G |
8: 110,815,372 (GRCm39) |
E193G |
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 |
|
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'- GTGAAACCACACCCCATTTG -3'
(R):5'- ACACTCTCAAGCTGACTTCC -3'
Sequencing Primer
(F):5'- GACATATACCACGTTCGTTACTAC -3'
(R):5'- CTCAAGCTGACTTCCATTTTTAAAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation