Incidental Mutation 'R9488:Mybpc1'
ID |
716760 |
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 # |
R9488 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88379624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 625
(M625K)
|
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: M625K
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112699 Gene: ENSMUSG00000020061 AA Change: M625K
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: M639K
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112615 Gene: ENSMUSG00000020061 AA Change: M639K
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: ENSMUSP00000119024 Gene: ENSMUSG00000020061 AA Change: M264K
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: 99.6%
- 20x: 98.9%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,643,212 (GRCm39) |
I294L |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,589,343 (GRCm39) |
K187N |
probably damaging |
Het |
Arhgap40 |
C |
T |
2: 158,391,571 (GRCm39) |
T631M |
possibly damaging |
Het |
Arpin |
T |
C |
7: 79,584,979 (GRCm39) |
Y5C |
probably damaging |
Het |
B020011L13Rik |
A |
G |
1: 117,728,724 (GRCm39) |
Y77C |
|
Het |
Cdk17 |
A |
G |
10: 93,044,066 (GRCm39) |
K2E |
probably damaging |
Het |
Cdk18 |
A |
G |
1: 132,049,260 (GRCm39) |
F86L |
probably benign |
Het |
Cfap418 |
A |
G |
4: 10,893,271 (GRCm39) |
D130G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,659,532 (GRCm39) |
T775A |
probably damaging |
Het |
Clvs2 |
T |
A |
10: 33,389,301 (GRCm39) |
D313V |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,741,788 (GRCm39) |
Y2377C |
probably damaging |
Het |
Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,377,218 (GRCm39) |
R1668G |
probably benign |
Het |
Eif2d |
T |
A |
1: 131,082,962 (GRCm39) |
V102E |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,631,337 (GRCm39) |
V210A |
probably damaging |
Het |
Galntl5 |
A |
G |
5: 25,415,437 (GRCm39) |
R323G |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,904,533 (GRCm39) |
T129A |
probably benign |
Het |
Gm572 |
A |
G |
4: 148,752,913 (GRCm39) |
H264R |
possibly damaging |
Het |
Hnrnpll |
T |
C |
17: 80,369,385 (GRCm39) |
T13A |
unknown |
Het |
Ighv7-4 |
T |
C |
12: 114,186,619 (GRCm39) |
Y51C |
probably damaging |
Het |
Irag2 |
G |
A |
6: 145,113,753 (GRCm39) |
R307Q |
probably damaging |
Het |
Jam2 |
A |
G |
16: 84,619,676 (GRCm39) |
D289G |
probably damaging |
Het |
Krt27 |
A |
G |
11: 99,239,535 (GRCm39) |
|
probably null |
Het |
Lama5 |
T |
C |
2: 179,823,234 (GRCm39) |
N2704S |
possibly damaging |
Het |
Lhx8 |
A |
T |
3: 154,033,764 (GRCm39) |
S70T |
possibly damaging |
Het |
Lmo7 |
C |
A |
14: 102,122,783 (GRCm39) |
T324N |
possibly damaging |
Het |
Man2a1 |
A |
G |
17: 65,040,734 (GRCm39) |
T907A |
possibly damaging |
Het |
Map3k4 |
C |
T |
17: 12,489,860 (GRCm39) |
A524T |
probably damaging |
Het |
Mga |
C |
T |
2: 119,795,304 (GRCm39) |
A2996V |
possibly damaging |
Het |
Ncald |
T |
A |
15: 37,372,369 (GRCm39) |
N159Y |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,527,866 (GRCm39) |
T832A |
possibly damaging |
Het |
P2rx5 |
T |
A |
11: 73,056,427 (GRCm39) |
I117N |
|
Het |
Pcdhb3 |
C |
A |
18: 37,435,416 (GRCm39) |
R461S |
possibly damaging |
Het |
Polr1b |
T |
C |
2: 128,967,417 (GRCm39) |
S937P |
probably damaging |
Het |
Prep |
C |
A |
10: 44,996,807 (GRCm39) |
Q362K |
|
Het |
Prg4 |
T |
C |
1: 150,327,024 (GRCm39) |
M342V |
probably benign |
Het |
Prr14 |
A |
T |
7: 127,073,687 (GRCm39) |
T184S |
possibly damaging |
Het |
Prss58 |
A |
G |
6: 40,874,382 (GRCm39) |
I98T |
probably benign |
Het |
Pum3 |
T |
C |
19: 27,394,188 (GRCm39) |
T361A |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
Sema4c |
A |
G |
1: 36,591,067 (GRCm39) |
V424A |
probably benign |
Het |
Sema6a |
A |
T |
18: 47,437,216 (GRCm39) |
I58N |
probably damaging |
Het |
Slc13a3 |
T |
A |
2: 165,250,851 (GRCm39) |
Y506F |
probably damaging |
Het |
Slc15a2 |
A |
G |
16: 36,579,651 (GRCm39) |
V365A |
probably benign |
Het |
Slc39a5 |
G |
A |
10: 128,233,628 (GRCm39) |
L290F |
probably damaging |
Het |
Spata31f1a |
A |
G |
4: 42,850,560 (GRCm39) |
V532A |
probably benign |
Het |
Taf6l |
T |
C |
19: 8,759,436 (GRCm39) |
T161A |
probably benign |
Het |
Tbl2 |
T |
A |
5: 135,187,471 (GRCm39) |
C243S |
probably benign |
Het |
Tet2 |
A |
T |
3: 133,193,103 (GRCm39) |
S444T |
probably benign |
Het |
Thoc1 |
C |
T |
18: 9,992,168 (GRCm39) |
L499F |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,913,942 (GRCm39) |
V1290A |
probably damaging |
Het |
Tnpo1 |
T |
C |
13: 98,990,003 (GRCm39) |
D716G |
probably damaging |
Het |
Tpp2 |
A |
T |
1: 44,041,272 (GRCm39) |
K1236N |
probably benign |
Het |
Tshr |
T |
C |
12: 91,504,589 (GRCm39) |
V509A |
probably damaging |
Het |
U2surp |
T |
C |
9: 95,356,535 (GRCm39) |
T775A |
|
Het |
Ubap2l |
T |
C |
3: 89,928,656 (GRCm39) |
T486A |
probably benign |
Het |
Usp28 |
C |
A |
9: 48,935,288 (GRCm39) |
P457T |
probably damaging |
Het |
Usp44 |
A |
G |
10: 93,682,851 (GRCm39) |
I387V |
possibly damaging |
Het |
Vmn1r225 |
A |
G |
17: 20,722,793 (GRCm39) |
D78G |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,447,880 (GRCm39) |
M537T |
possibly damaging |
Het |
Wdr6 |
G |
A |
9: 108,453,182 (GRCm39) |
R234C |
probably damaging |
Het |
Zfp1005 |
G |
A |
2: 150,110,477 (GRCm39) |
G389D |
unknown |
Het |
Zfp949 |
C |
A |
9: 88,452,182 (GRCm39) |
T584N |
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 |
|
R9460:Mybpc1
|
UTSW |
10 |
88,372,197 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TAGTATATTAAGCACCACCTCTTCCT -3'
(R):5'- CACTATACACTTACCTTGTATTGACTT -3'
Sequencing Primer
(F):5'- TACTAAGAGTTGAGTCCAGAGCCTC -3'
(R):5'- CAGATTCTGACTTTCACCCA -3'
|
Posted On |
2022-07-18 |