Incidental Mutation 'R1562:Mybpc1'
| ID |
170690 |
| 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 |
039601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R1562 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88389193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 406
(A406T)
|
| 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: A392T
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: A392T
| 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 damaging
Transcript: ENSMUST00000121629
AA Change: A406T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: A406T
| 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 |
unknown
Transcript: ENSMUST00000156573
AA Change: A31T
|
| SMART Domains |
Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
AA Change: A31T
| 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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,331 (GRCm39) |
I2201V |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,145,007 (GRCm39) |
N817S |
probably damaging |
Het |
| Alox12 |
C |
A |
11: 70,140,991 (GRCm39) |
R348L |
probably damaging |
Het |
| Asb17 |
A |
T |
3: 153,559,143 (GRCm39) |
T285S |
probably benign |
Het |
| Casp4 |
T |
C |
9: 5,324,733 (GRCm39) |
S182P |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,944,155 (GRCm39) |
M985T |
possibly damaging |
Het |
| Clcn1 |
C |
T |
6: 42,277,169 (GRCm39) |
P420L |
probably benign |
Het |
| Coro2a |
T |
C |
4: 46,548,917 (GRCm39) |
I126V |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,432,778 (GRCm39) |
Y1181C |
probably damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,258,179 (GRCm39) |
L147Q |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,200,800 (GRCm39) |
N758S |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,163,162 (GRCm39) |
D15G |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,281,323 (GRCm39) |
E803G |
probably damaging |
Het |
| Folr1 |
T |
G |
7: 101,507,801 (GRCm39) |
D213A |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,579,094 (GRCm39) |
V359A |
probably damaging |
Het |
| Gabrb3 |
C |
T |
7: 57,415,262 (GRCm39) |
R111* |
probably null |
Het |
| Gm17324 |
T |
C |
9: 78,355,964 (GRCm39) |
|
probably benign |
Het |
| Hormad2 |
A |
T |
11: 4,358,848 (GRCm39) |
|
probably null |
Het |
| Ifi27l2b |
T |
A |
12: 103,422,780 (GRCm39) |
|
probably null |
Het |
| Isg20 |
G |
T |
7: 78,569,891 (GRCm39) |
C176F |
probably benign |
Het |
| Katnip |
C |
A |
7: 125,442,020 (GRCm39) |
S643Y |
probably damaging |
Het |
| Krt15 |
C |
A |
11: 100,024,007 (GRCm39) |
V346L |
probably benign |
Het |
| Liat1 |
A |
T |
11: 75,894,024 (GRCm39) |
I134F |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,876,584 (GRCm39) |
K920R |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,313,694 (GRCm39) |
F831I |
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,771,786 (GRCm39) |
S267P |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,102,196 (GRCm39) |
M829T |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,780,497 (GRCm39) |
Q209R |
possibly damaging |
Het |
| Nceh1 |
T |
A |
3: 27,293,701 (GRCm39) |
V153D |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,889,169 (GRCm39) |
I3N |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,676,696 (GRCm39) |
D53G |
probably damaging |
Het |
| Or2ag1b |
C |
T |
7: 106,288,187 (GRCm39) |
M250I |
probably benign |
Het |
| Or4c103 |
T |
A |
2: 88,513,423 (GRCm39) |
I218F |
probably benign |
Het |
| Or8c20 |
C |
A |
9: 38,260,658 (GRCm39) |
S87* |
probably null |
Het |
| Pcnt |
G |
A |
10: 76,203,164 (GRCm39) |
T2646M |
probably benign |
Het |
| Phf10 |
A |
T |
17: 15,166,512 (GRCm39) |
C453S |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,812,367 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
A |
G |
12: 79,123,482 (GRCm39) |
H1185R |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,476,602 (GRCm39) |
V404L |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,175,372 (GRCm39) |
D1122E |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,711,921 (GRCm39) |
|
probably null |
Het |
| Rasa2 |
G |
T |
9: 96,427,803 (GRCm39) |
N687K |
possibly damaging |
Het |
| Rbm11 |
A |
G |
16: 75,393,423 (GRCm39) |
T40A |
probably damaging |
Het |
| Rem2 |
T |
C |
14: 54,713,775 (GRCm39) |
V16A |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,007,588 (GRCm39) |
M574K |
possibly damaging |
Het |
| Rpap3 |
A |
T |
15: 97,592,098 (GRCm39) |
V186D |
possibly damaging |
Het |
| Sertad3 |
G |
A |
7: 27,176,048 (GRCm39) |
E161K |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,304,130 (GRCm39) |
S278P |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,680,401 (GRCm39) |
T400A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,024,178 (GRCm39) |
I402N |
probably damaging |
Het |
| Synj1 |
C |
T |
16: 90,784,290 (GRCm39) |
V283I |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,471,000 (GRCm39) |
|
probably null |
Het |
| Ttpal |
A |
G |
2: 163,457,323 (GRCm39) |
N265S |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,677,116 (GRCm39) |
G2015D |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,796,017 (GRCm39) |
W138* |
probably null |
Het |
| Vmn1r25 |
T |
G |
6: 57,955,786 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,510,301 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn2r4 |
G |
T |
3: 64,296,865 (GRCm39) |
T640N |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,843,030 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
T |
G |
1: 63,342,747 (GRCm39) |
S375R |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,080,138 (GRCm39) |
Q99R |
probably benign |
Het |
| Zfp964 |
C |
T |
8: 70,115,654 (GRCm39) |
P85S |
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 |
|
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 |
|
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'- CACACAGAAGGAGAGTTTCCTAAAAGCG -3'
(R):5'- GCACTGCCTCTGACTGAAGGAGAAC -3'
Sequencing Primer
(F):5'- GAGTTTCCTAAAAGCGGAGTTAC -3'
(R):5'- ACACGATGCTTGTTACACTAGGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation