Incidental Mutation 'R8241:Mybpc1'
ID |
637561 |
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 # |
R8241 (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 88372286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 781
(N781K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
AlphaFold |
A0A571BEN1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000119185
AA Change: N767K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112699 Gene: ENSMUSG00000020061 AA Change: N767K
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: N781K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000112615 Gene: ENSMUSG00000020061 AA Change: N781K
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 |
noncoding transcript
Transcript: ENSMUST00000148205
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000122472 Gene: ENSMUSG00000020061 AA Change: N19K
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 |
|
SMART Domains |
Protein: ENSMUSP00000119024 Gene: ENSMUSG00000020061 AA Change: N424K
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 98.1%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,079,456 (GRCm39) |
R1233G |
probably null |
Het |
Acacb |
A |
T |
5: 114,333,297 (GRCm39) |
I474F |
possibly damaging |
Het |
Adora1 |
A |
T |
1: 134,131,062 (GRCm39) |
V203D |
probably damaging |
Het |
Aff4 |
A |
G |
11: 53,290,998 (GRCm39) |
S653G |
probably benign |
Het |
Agtr1a |
T |
C |
13: 30,565,082 (GRCm39) |
V49A |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,984,659 (GRCm39) |
V1981A |
probably benign |
Het |
Arhgap5 |
T |
G |
12: 52,565,098 (GRCm39) |
Y690D |
probably benign |
Het |
Bbs9 |
A |
G |
9: 22,590,214 (GRCm39) |
I651V |
probably benign |
Het |
Brms1 |
C |
T |
19: 5,096,007 (GRCm39) |
A27V |
probably benign |
Het |
Camta1 |
A |
G |
4: 151,168,282 (GRCm39) |
V256A |
probably benign |
Het |
Capg |
G |
T |
6: 72,533,236 (GRCm39) |
|
probably null |
Het |
Chpt1 |
T |
C |
10: 88,288,953 (GRCm39) |
K154E |
|
Het |
Cyp1b1 |
T |
C |
17: 80,021,223 (GRCm39) |
E173G |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fbxw27 |
T |
G |
9: 109,602,283 (GRCm39) |
N230T |
possibly damaging |
Het |
Fer1l4 |
T |
C |
2: 155,891,585 (GRCm39) |
T126A |
probably benign |
Het |
Fut10 |
C |
A |
8: 31,750,034 (GRCm39) |
S440* |
probably null |
Het |
Gbf1 |
T |
C |
19: 46,234,576 (GRCm39) |
V71A |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,378,347 (GRCm39) |
E201G |
unknown |
Het |
Hic2 |
A |
G |
16: 17,076,950 (GRCm39) |
Y593C |
probably damaging |
Het |
Hlcs |
A |
T |
16: 94,068,677 (GRCm39) |
V181E |
probably damaging |
Het |
Itpr2 |
A |
T |
6: 146,320,013 (GRCm39) |
I176N |
possibly damaging |
Het |
Kcna2 |
G |
T |
3: 107,012,338 (GRCm39) |
K306N |
probably damaging |
Het |
Kcnb1 |
A |
G |
2: 166,948,117 (GRCm39) |
Y244H |
probably damaging |
Het |
Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
Mapk14 |
T |
A |
17: 28,934,374 (GRCm39) |
D88E |
possibly damaging |
Het |
Marchf10 |
C |
A |
11: 105,280,741 (GRCm39) |
A515S |
probably benign |
Het |
Mrpl1 |
T |
A |
5: 96,386,733 (GRCm39) |
L241I |
probably damaging |
Het |
Nfkb2 |
T |
A |
19: 46,296,054 (GRCm39) |
D186E |
probably benign |
Het |
Or3a1b |
G |
A |
11: 74,013,035 (GRCm39) |
V307I |
probably benign |
Het |
Plcl1 |
A |
G |
1: 55,734,976 (GRCm39) |
I106V |
probably benign |
Het |
Ppp4r2 |
A |
G |
6: 100,842,044 (GRCm39) |
I168M |
probably damaging |
Het |
Prpf4b |
A |
T |
13: 35,079,974 (GRCm39) |
K779N |
probably damaging |
Het |
Qrich1 |
T |
C |
9: 108,433,760 (GRCm39) |
|
probably null |
Het |
Rgs12 |
T |
C |
5: 35,123,117 (GRCm39) |
F300S |
probably damaging |
Het |
Sart3 |
T |
A |
5: 113,884,029 (GRCm39) |
K661M |
probably benign |
Het |
Scyl2 |
T |
C |
10: 89,489,971 (GRCm39) |
I464V |
possibly damaging |
Het |
Sema5a |
A |
G |
15: 32,575,064 (GRCm39) |
T391A |
probably benign |
Het |
Sh3bgr |
A |
G |
16: 96,025,070 (GRCm39) |
T183A |
unknown |
Het |
Sh3rf3 |
C |
T |
10: 58,940,242 (GRCm39) |
P688S |
probably benign |
Het |
Themis3 |
T |
C |
17: 66,866,962 (GRCm39) |
T93A |
probably benign |
Het |
Thsd7b |
T |
A |
1: 130,117,688 (GRCm39) |
S1402T |
probably damaging |
Het |
Ubr1 |
A |
T |
2: 120,793,937 (GRCm39) |
D82E |
possibly damaging |
Het |
Vmn1r223 |
T |
C |
13: 23,433,982 (GRCm39) |
F192S |
probably benign |
Het |
Vmn2r98 |
A |
G |
17: 19,301,031 (GRCm39) |
K678E |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,875,047 (GRCm39) |
T1826N |
|
Het |
Vps41 |
A |
G |
13: 19,033,168 (GRCm39) |
D633G |
possibly damaging |
Het |
Wdr3 |
A |
T |
3: 100,057,259 (GRCm39) |
I448N |
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 |
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 |
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'- CATTTGGCCTTTGCTGGTAC -3'
(R):5'- CCAGACCCTGTTCTTTCCAAAG -3'
Sequencing Primer
(F):5'- TTTGAGAGGGATCCACTAGCC -3'
(R):5'- ACCCTGTTCTTTCCAAAGGATCTAAG -3'
|
Posted On |
2020-07-13 |