Incidental Mutation 'R5808:Mybpc1'
| ID |
448849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc1
|
| Ensembl Gene |
ENSMUSG00000020061 |
| Gene Name |
myosin binding protein C, slow-type |
| Synonyms |
Slow-type C-protein, 8030451F13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R5808 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88406428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 139
(S139G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
| AlphaFold |
A0A571BEN1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119185
AA Change: S139G
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: S139G
| 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
AA Change: S153G
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: S153G
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
T |
10: 76,286,482 (GRCm39) |
R6W |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,599 (GRCm39) |
V2961E |
possibly damaging |
Het |
| Aldh1a7 |
A |
T |
19: 20,685,561 (GRCm39) |
Y330N |
possibly damaging |
Het |
| Bag6 |
A |
G |
17: 35,365,298 (GRCm39) |
Y1041C |
probably damaging |
Het |
| Baz1b |
T |
A |
5: 135,250,812 (GRCm39) |
V866E |
probably benign |
Het |
| Bmpr2 |
A |
T |
1: 59,906,560 (GRCm39) |
Y551F |
probably benign |
Het |
| Cage1 |
A |
G |
13: 38,206,301 (GRCm39) |
|
probably benign |
Het |
| Caskin2 |
G |
T |
11: 115,692,589 (GRCm39) |
P732Q |
probably damaging |
Het |
| Cbfa2t2 |
T |
C |
2: 154,359,746 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
T |
10: 41,531,500 (GRCm39) |
M502K |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,670,657 (GRCm39) |
D197G |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,129,847 (GRCm39) |
S237T |
probably benign |
Het |
| Defb40 |
T |
C |
8: 19,025,095 (GRCm39) |
H37R |
probably benign |
Het |
| Dis3l2 |
A |
C |
1: 86,977,360 (GRCm39) |
S836R |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,568,724 (GRCm39) |
I2818T |
possibly damaging |
Het |
| Dpysl2 |
T |
A |
14: 67,102,621 (GRCm39) |
|
probably null |
Het |
| Dsc1 |
A |
T |
18: 20,219,886 (GRCm39) |
C761* |
probably null |
Het |
| Dsg1b |
A |
T |
18: 20,541,782 (GRCm39) |
D763V |
probably damaging |
Het |
| Eif2ak1 |
C |
T |
5: 143,820,812 (GRCm39) |
P251L |
probably benign |
Het |
| Epha6 |
A |
T |
16: 59,503,105 (GRCm39) |
I934K |
probably damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,744 (GRCm39) |
E122G |
probably damaging |
Het |
| Filip1 |
C |
T |
9: 79,725,983 (GRCm39) |
G879R |
possibly damaging |
Het |
| Frem2 |
A |
T |
3: 53,559,984 (GRCm39) |
F1508I |
probably damaging |
Het |
| Gja1 |
A |
G |
10: 56,264,594 (GRCm39) |
N318D |
probably benign |
Het |
| Gm11564 |
T |
C |
11: 99,705,867 (GRCm39) |
S188G |
unknown |
Het |
| Hlcs |
A |
G |
16: 94,063,491 (GRCm39) |
V523A |
probably benign |
Het |
| Kif1a |
C |
A |
1: 92,970,420 (GRCm39) |
E1041D |
probably damaging |
Het |
| Lamtor1 |
A |
G |
7: 101,559,289 (GRCm39) |
Y81C |
possibly damaging |
Het |
| Loxl1 |
A |
G |
9: 58,201,732 (GRCm39) |
L453S |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,043,937 (GRCm39) |
M1V |
probably null |
Het |
| Megf6 |
A |
G |
4: 154,352,119 (GRCm39) |
Q1208R |
probably benign |
Het |
| Morc2a |
T |
A |
11: 3,633,781 (GRCm39) |
I631N |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,360 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,720,127 (GRCm39) |
F1017L |
probably benign |
Het |
| Nup62 |
A |
C |
7: 44,479,416 (GRCm39) |
Q477P |
possibly damaging |
Het |
| P2ry13 |
T |
A |
3: 59,117,653 (GRCm39) |
I42F |
probably benign |
Het |
| Ptprb |
G |
A |
10: 116,175,392 (GRCm39) |
R1129K |
probably benign |
Het |
| Rexo4 |
T |
A |
2: 26,854,197 (GRCm39) |
K45I |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,327,121 (GRCm39) |
V1703I |
probably benign |
Het |
| Sec23ip |
C |
A |
7: 128,373,908 (GRCm39) |
A710E |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,149,362 (GRCm39) |
T194A |
probably benign |
Het |
| Slc4a10 |
G |
A |
2: 62,080,816 (GRCm39) |
A348T |
probably damaging |
Het |
| Soat2 |
G |
A |
15: 102,062,460 (GRCm39) |
|
probably null |
Het |
| Srms |
T |
C |
2: 180,850,548 (GRCm39) |
S204G |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,229,810 (GRCm39) |
R2774C |
unknown |
Het |
| Tcf7l2 |
T |
C |
19: 55,896,973 (GRCm39) |
V182A |
probably damaging |
Het |
| Tmem167b |
C |
T |
3: 108,467,559 (GRCm39) |
R29H |
probably benign |
Het |
| Trappc12 |
T |
A |
12: 28,796,863 (GRCm39) |
D223V |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,664,397 (GRCm39) |
S383R |
possibly damaging |
Het |
| Ubr1 |
C |
T |
2: 120,791,573 (GRCm39) |
R137H |
possibly damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,792,597 (GRCm39) |
C641* |
probably null |
Het |
| Vrk3 |
A |
G |
7: 44,409,298 (GRCm39) |
D155G |
probably damaging |
Het |
| Xxylt1 |
T |
C |
16: 30,869,503 (GRCm39) |
Y199C |
probably damaging |
Het |
| Zbtb46 |
A |
T |
2: 181,065,363 (GRCm39) |
D262E |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,948,766 (GRCm39) |
S58T |
probably benign |
Het |
| Zfp747l1 |
A |
T |
7: 126,984,085 (GRCm39) |
|
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,631,563 (GRCm39) |
L1344* |
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 |
|
|
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 |
|
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'- ACAGCATCACCCTTCTCTGG -3'
(R):5'- CCACTACTGAGAAATGTGTTAAGG -3'
Sequencing Primer
(F):5'- CCCTTCTCTGGGTCTGAAGG -3'
(R):5'- GGTAGGTAAGCGCCTATCTCAAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation