Incidental Mutation 'R6324:Mybpc1'
ID |
510662 |
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 |
044478-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.837)
|
Stock # |
R6324 (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 G
at 88404481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 172
(I172T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
AlphaFold |
A0A571BEN1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119185
AA Change: I158T
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112699 Gene: ENSMUSG00000020061 AA Change: I158T
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: I172T
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000112615 Gene: ENSMUSG00000020061 AA Change: I172T
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 |
|
Meta Mutation Damage Score |
0.2846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
96% (47/49) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
Atp13a3 |
A |
G |
16: 30,151,103 (GRCm39) |
V1069A |
possibly damaging |
Het |
Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,737,292 (GRCm39) |
S1877P |
probably damaging |
Het |
Ccdc27 |
A |
T |
4: 154,120,648 (GRCm39) |
S383T |
probably benign |
Het |
Cr1l |
A |
G |
1: 194,793,430 (GRCm39) |
V377A |
probably benign |
Het |
Dazap1 |
A |
G |
10: 80,113,494 (GRCm39) |
E130G |
probably benign |
Het |
Dchs1 |
G |
T |
7: 105,414,145 (GRCm39) |
A890E |
probably benign |
Het |
Dock10 |
G |
A |
1: 80,482,893 (GRCm39) |
T2143I |
probably benign |
Het |
Eif3j1 |
A |
G |
2: 121,871,659 (GRCm39) |
D60G |
probably benign |
Het |
Enah |
A |
G |
1: 181,746,136 (GRCm39) |
S382P |
probably damaging |
Het |
Fam171b |
A |
T |
2: 83,709,608 (GRCm39) |
K427* |
probably null |
Het |
Fmn2 |
A |
T |
1: 174,440,119 (GRCm39) |
I1179L |
possibly damaging |
Het |
Focad |
C |
T |
4: 88,319,305 (GRCm39) |
R1505* |
probably null |
Het |
Frem1 |
T |
C |
4: 82,901,574 (GRCm39) |
T985A |
probably benign |
Het |
Gm3404 |
A |
T |
5: 146,464,917 (GRCm39) |
Q219L |
possibly damaging |
Het |
Gm5592 |
A |
C |
7: 40,935,959 (GRCm39) |
S154R |
probably damaging |
Het |
Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,815,365 (GRCm39) |
E586G |
probably damaging |
Het |
Gstp2 |
A |
T |
19: 4,090,499 (GRCm39) |
I162N |
probably benign |
Het |
Lin7a |
T |
A |
10: 107,216,076 (GRCm39) |
|
probably null |
Het |
Loxl4 |
G |
A |
19: 42,583,817 (GRCm39) |
L745F |
probably benign |
Het |
Ms4a19 |
T |
A |
19: 11,140,811 (GRCm39) |
M3L |
probably benign |
Het |
Nalcn |
A |
G |
14: 123,647,161 (GRCm39) |
W571R |
possibly damaging |
Het |
Nkx2-5 |
G |
C |
17: 27,060,095 (GRCm39) |
P79A |
probably benign |
Het |
Nufip2 |
A |
G |
11: 77,582,487 (GRCm39) |
T134A |
probably benign |
Het |
Odad1 |
A |
G |
7: 45,591,134 (GRCm39) |
E203G |
probably damaging |
Het |
Or13p4 |
G |
A |
4: 118,547,728 (GRCm39) |
|
probably benign |
Het |
Or5al1 |
C |
T |
2: 85,989,800 (GRCm39) |
V305I |
probably benign |
Het |
Or5b109 |
A |
G |
19: 13,212,468 (GRCm39) |
M285V |
possibly damaging |
Het |
Phkb |
A |
G |
8: 86,745,171 (GRCm39) |
D616G |
probably benign |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Prl7b1 |
A |
T |
13: 27,786,878 (GRCm39) |
|
probably null |
Het |
Prop1 |
G |
A |
11: 50,843,026 (GRCm39) |
P54S |
probably benign |
Het |
Ptcd3 |
C |
T |
6: 71,862,311 (GRCm39) |
V509I |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,226,314 (GRCm38) |
D527E |
probably damaging |
Het |
Rapgef2 |
C |
T |
3: 78,986,439 (GRCm39) |
V1182I |
probably benign |
Het |
Rfx7 |
C |
A |
9: 72,525,696 (GRCm39) |
P962Q |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Slc38a9 |
A |
G |
13: 112,862,634 (GRCm39) |
I444M |
probably benign |
Het |
Sorbs1 |
T |
C |
19: 40,310,263 (GRCm39) |
T492A |
probably damaging |
Het |
Synj1 |
A |
T |
16: 90,735,518 (GRCm39) |
S1478R |
probably benign |
Het |
Tnn |
T |
A |
1: 159,972,774 (GRCm39) |
N276I |
probably damaging |
Het |
Trbv19 |
G |
A |
6: 41,155,692 (GRCm39) |
G21D |
probably damaging |
Het |
Ube2o |
A |
T |
11: 116,430,185 (GRCm39) |
D1184E |
probably benign |
Het |
Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,691,977 (GRCm39) |
L182* |
probably null |
Het |
Vmn2r15 |
A |
G |
5: 109,434,137 (GRCm39) |
*856R |
probably null |
Het |
Vmn2r70 |
G |
A |
7: 85,208,087 (GRCm39) |
H797Y |
probably benign |
Het |
Zfp11 |
C |
T |
5: 129,733,587 (GRCm39) |
A625T |
possibly 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 |
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 |
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'- TAACCAGGAGATCTGCAGAATG -3'
(R):5'- TGGCGATGTCCTGGTAACTC -3'
Sequencing Primer
(F):5'- GAGTTACCACTCTGACACGAATTC -3'
(R):5'- GATGTCCTGGTAACTCAGCCAC -3'
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Posted On |
2018-04-02 |