Incidental Mutation 'R3767:Mybpc1'
ID |
273067 |
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 |
040744-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.837)
|
Stock # |
R3767 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 88406521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112615
(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 null
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adipoq |
T |
A |
16: 22,975,938 (GRCm39) |
V134E |
possibly damaging |
Het |
Agmat |
A |
G |
4: 141,483,273 (GRCm39) |
T236A |
probably benign |
Het |
Anxa9 |
T |
C |
3: 95,208,425 (GRCm39) |
N197S |
probably benign |
Het |
Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
Axdnd1 |
G |
A |
1: 156,208,428 (GRCm39) |
T470M |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cdh3 |
A |
T |
8: 107,263,606 (GRCm39) |
|
probably null |
Het |
Cep85l |
A |
T |
10: 53,167,906 (GRCm39) |
I624K |
probably benign |
Het |
Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,406,292 (GRCm39) |
D2313E |
possibly damaging |
Het |
Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
Exo1 |
C |
T |
1: 175,714,312 (GRCm39) |
P73L |
probably damaging |
Het |
Fgfrl1 |
C |
A |
5: 108,853,242 (GRCm39) |
H197Q |
possibly damaging |
Het |
Fsbp |
G |
A |
4: 11,583,706 (GRCm39) |
G135D |
probably damaging |
Het |
Herc3 |
G |
A |
6: 58,839,973 (GRCm39) |
R362H |
probably benign |
Het |
Herc3 |
T |
C |
6: 58,853,587 (GRCm39) |
F583L |
probably benign |
Het |
Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
Ighv1-54 |
A |
G |
12: 115,157,596 (GRCm39) |
V17A |
possibly damaging |
Het |
Kcnh5 |
A |
G |
12: 75,134,350 (GRCm39) |
Y400H |
possibly damaging |
Het |
Kcnk16 |
T |
A |
14: 20,319,230 (GRCm39) |
M1L |
possibly damaging |
Het |
Kctd19 |
T |
C |
8: 106,123,112 (GRCm39) |
T101A |
probably benign |
Het |
Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
Lonp1 |
T |
C |
17: 56,928,952 (GRCm39) |
E270G |
possibly damaging |
Het |
Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
Mrc1 |
A |
G |
2: 14,323,981 (GRCm39) |
Y1106C |
probably damaging |
Het |
Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
Neurl1a |
T |
C |
19: 47,228,328 (GRCm39) |
L58P |
probably damaging |
Het |
Nlrp4e |
G |
T |
7: 23,039,988 (GRCm39) |
L770F |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,115,857 (GRCm39) |
*895W |
probably null |
Het |
Nphs2 |
T |
C |
1: 156,140,608 (GRCm39) |
I115T |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
Or8g22 |
T |
A |
9: 38,958,707 (GRCm39) |
H47L |
unknown |
Het |
Patj |
A |
T |
4: 98,569,456 (GRCm39) |
K1128* |
probably null |
Het |
Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
Ppp1r13b |
G |
T |
12: 111,812,851 (GRCm39) |
R123S |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,769,076 (GRCm39) |
Y323* |
probably null |
Het |
Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,113,579 (GRCm39) |
R313W |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,613,115 (GRCm39) |
D825V |
probably damaging |
Het |
Selenoi |
A |
G |
5: 30,461,187 (GRCm39) |
Y141C |
probably damaging |
Het |
Smcr8 |
A |
G |
11: 60,670,330 (GRCm39) |
T493A |
probably benign |
Het |
Tjp2 |
A |
T |
19: 24,078,190 (GRCm39) |
I901N |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttc23l |
T |
A |
15: 10,530,781 (GRCm39) |
Y277F |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdr1 |
C |
T |
5: 38,697,882 (GRCm39) |
G228R |
probably damaging |
Het |
Xab2 |
T |
C |
8: 3,669,053 (GRCm39) |
N31S |
probably damaging |
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 |
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 |
|
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'- ACCTGAGAGCATTACAGAACTCTC -3'
(R):5'- AAATGGCAATGGTTGGGTCC -3'
Sequencing Primer
(F):5'- GAGAGCATTACAGAACTCTCTTCCTC -3'
(R):5'- GAGATTTCAGTCCTATGTCTACACAC -3'
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Posted On |
2015-03-25 |