Incidental Mutation 'R8830:Mybpc2'
| ID |
673744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc2
|
| Ensembl Gene |
ENSMUSG00000038670 |
| Gene Name |
myosin binding protein C, fast-type |
| Synonyms |
Fast-type C-protein |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8830 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44161965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 495
(V495D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165208]
|
| AlphaFold |
Q5XKE0 |
| PDB Structure |
Solution structure of the fibronectin type-III domain of mouse myosin-binding protein C, Fast-type homolog [SOLUTION NMR]
Solution structure of the Ig-like domain(433- 525) of murine myosin-binding protein C, fast-type [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165208
AA Change: V495D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: V495D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
|
IG
|
54 |
150 |
6.26e-5 |
SMART |
|
PDB:2LHU|A
|
160 |
236 |
7e-9 |
PDB |
|
low complexity region
|
237 |
252 |
N/A |
INTRINSIC |
|
IG
|
258 |
337 |
5.21e-2 |
SMART |
|
IG
|
347 |
430 |
1.2e-1 |
SMART |
|
IG
|
440 |
526 |
2.72e-5 |
SMART |
|
IG
|
546 |
631 |
1.68e-5 |
SMART |
|
FN3
|
634 |
717 |
3.29e-11 |
SMART |
|
FN3
|
732 |
815 |
1.23e-10 |
SMART |
|
IG
|
842 |
925 |
6.07e-3 |
SMART |
|
FN3
|
928 |
1010 |
2.08e-8 |
SMART |
|
IGc2
|
1055 |
1122 |
6.91e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207516
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (68/68) |
| 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. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
T |
3: 59,654,744 (GRCm39) |
T193S |
probably benign |
Het |
| Abca7 |
T |
A |
10: 79,844,805 (GRCm39) |
V1509E |
probably damaging |
Het |
| Abraxas2 |
A |
G |
7: 132,485,085 (GRCm39) |
D376G |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 75,985,059 (GRCm39) |
T159A |
|
Het |
| Ahnak2 |
G |
A |
12: 112,750,656 (GRCm39) |
R89W |
|
Het |
| Ajm1 |
T |
G |
2: 25,467,262 (GRCm39) |
D883A |
|
Het |
| Arhgef40 |
A |
C |
14: 52,241,165 (GRCm39) |
D1396A |
probably damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,066,928 (GRCm39) |
F1060I |
probably damaging |
Het |
| Atp6v1c1 |
T |
A |
15: 38,677,789 (GRCm39) |
F105I |
probably damaging |
Het |
| Atp9b |
C |
T |
18: 80,809,015 (GRCm39) |
E635K |
|
Het |
| Brix1 |
T |
A |
15: 10,479,682 (GRCm39) |
Q124L |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,180,418 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,195,565 (GRCm39) |
S2208P |
unknown |
Het |
| Crisp1 |
T |
A |
17: 40,605,310 (GRCm39) |
K234* |
probably null |
Het |
| Cryzl1 |
C |
T |
16: 91,509,092 (GRCm39) |
V70I |
probably benign |
Het |
| Cybc1 |
C |
T |
11: 121,119,549 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,230,953 (GRCm39) |
Y1404H |
probably damaging |
Het |
| Dot1l |
A |
G |
10: 80,607,033 (GRCm39) |
H109R |
possibly damaging |
Het |
| E330034G19Rik |
A |
C |
14: 24,359,576 (GRCm39) |
H329P |
unknown |
Het |
| Erbb4 |
A |
T |
1: 68,114,627 (GRCm39) |
L939Q |
probably damaging |
Het |
| Fst |
A |
T |
13: 114,592,364 (GRCm39) |
C118S |
probably damaging |
Het |
| Gfra3 |
A |
G |
18: 34,844,189 (GRCm39) |
V117A |
possibly damaging |
Het |
| Gldc |
C |
G |
19: 30,078,212 (GRCm39) |
M928I |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,738,520 (GRCm39) |
M1481T |
probably benign |
Het |
| Hecw2 |
G |
A |
1: 53,930,305 (GRCm39) |
R1045C |
probably damaging |
Het |
| Hexb |
C |
T |
13: 97,330,762 (GRCm39) |
V84I |
probably benign |
Het |
| Hpse |
T |
C |
5: 100,843,452 (GRCm39) |
E240G |
probably benign |
Het |
| Hspa12a |
T |
C |
19: 58,793,895 (GRCm39) |
D322G |
possibly damaging |
Het |
| Hspa9 |
A |
T |
18: 35,081,157 (GRCm39) |
|
probably null |
Het |
| Kif9 |
A |
G |
9: 110,353,998 (GRCm39) |
K790R |
probably damaging |
Het |
| Klc2 |
C |
T |
19: 5,160,394 (GRCm39) |
|
probably null |
Het |
| Ldha |
C |
G |
7: 46,499,702 (GRCm39) |
N144K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,980,403 (GRCm39) |
T126A |
probably benign |
Het |
| Mrpl15 |
A |
T |
1: 4,852,807 (GRCm39) |
V137D |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,557,365 (GRCm39) |
T2976I |
unknown |
Het |
| Or10a5 |
A |
G |
7: 106,635,889 (GRCm39) |
N176D |
probably benign |
Het |
| Or52ab2 |
A |
G |
7: 102,970,212 (GRCm39) |
K198R |
|
Het |
| Or6c203 |
A |
T |
10: 129,010,715 (GRCm39) |
Y58* |
probably null |
Het |
| Pcnt |
G |
A |
10: 76,218,008 (GRCm39) |
T2089I |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,021,512 (GRCm39) |
D563G |
probably damaging |
Het |
| Phlpp1 |
T |
G |
1: 106,278,333 (GRCm39) |
L915R |
probably damaging |
Het |
| Plekhh2 |
T |
A |
17: 84,829,231 (GRCm39) |
I34N |
probably damaging |
Het |
| Pou6f2 |
T |
A |
13: 18,553,083 (GRCm39) |
T84S |
|
Het |
| Prxl2c |
G |
A |
13: 64,445,114 (GRCm39) |
Q170* |
probably null |
Het |
| Ptprq |
A |
G |
10: 107,422,556 (GRCm39) |
V1612A |
possibly damaging |
Het |
| Pvrig-ps |
T |
G |
5: 138,340,410 (GRCm39) |
|
probably benign |
Het |
| Rasl10b |
A |
T |
11: 83,303,502 (GRCm39) |
I20F |
probably damaging |
Het |
| Rimbp3 |
T |
A |
16: 17,026,870 (GRCm39) |
V98E |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,300,758 (GRCm39) |
I355T |
possibly damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,566,360 (GRCm39) |
H30R |
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,810,794 (GRCm39) |
V389M |
possibly damaging |
Het |
| Slc7a13 |
T |
C |
4: 19,819,189 (GRCm39) |
S130P |
probably benign |
Het |
| Sp140 |
TTTTTTTT |
TTTTTTTTTTTTT |
1: 85,572,295 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
T |
A |
3: 100,032,751 (GRCm39) |
H2320Q |
possibly damaging |
Het |
| Speer4a1 |
T |
C |
5: 26,241,793 (GRCm39) |
E111G |
possibly damaging |
Het |
| Ss18l1 |
T |
C |
2: 179,709,131 (GRCm39) |
Y397H |
unknown |
Het |
| Tbck |
T |
C |
3: 132,543,818 (GRCm39) |
S890P |
probably damaging |
Het |
| Tcp11 |
T |
C |
17: 28,299,204 (GRCm39) |
E17G |
probably benign |
Het |
| Tesk2 |
C |
T |
4: 116,659,484 (GRCm39) |
R315C |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,556,383 (GRCm39) |
N45S |
probably benign |
Het |
| Trim10 |
C |
T |
17: 37,180,846 (GRCm39) |
P26S |
probably damaging |
Het |
| Vmac |
C |
A |
17: 57,022,573 (GRCm39) |
G146C |
probably damaging |
Het |
| Vmn1r14 |
G |
A |
6: 57,211,017 (GRCm39) |
M198I |
probably damaging |
Het |
| Vmn1r194 |
T |
C |
13: 22,429,006 (GRCm39) |
Y208H |
possibly damaging |
Het |
| Vmn1r78 |
G |
A |
7: 11,887,118 (GRCm39) |
C243Y |
probably damaging |
Het |
| Wasf3 |
C |
T |
5: 146,403,672 (GRCm39) |
Q261* |
probably null |
Het |
| Ybx2 |
A |
G |
11: 69,827,063 (GRCm39) |
K88R |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,463,949 (GRCm39) |
R1394H |
probably damaging |
Het |
| Zfp871 |
T |
C |
17: 32,993,901 (GRCm39) |
T425A |
probably benign |
Het |
| Zfy2 |
C |
T |
Y: 2,106,600 (GRCm39) |
S678N |
possibly damaging |
Het |
| Zswim4 |
T |
C |
8: 84,949,945 (GRCm39) |
E650G |
possibly damaging |
Het |
|
| Other mutations in Mybpc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Mybpc2
|
APN |
7 |
44,154,829 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00586:Mybpc2
|
APN |
7 |
44,154,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00976:Mybpc2
|
APN |
7 |
44,171,741 (GRCm39) |
splice site |
probably null |
|
|
IGL01099:Mybpc2
|
APN |
7 |
44,165,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01348:Mybpc2
|
APN |
7 |
44,165,352 (GRCm39) |
missense |
probably benign |
|
|
IGL01625:Mybpc2
|
APN |
7 |
44,166,337 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01733:Mybpc2
|
APN |
7 |
44,155,622 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01946:Mybpc2
|
APN |
7 |
44,159,322 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02078:Mybpc2
|
APN |
7 |
44,153,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Mybpc2
|
APN |
7 |
44,171,812 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02341:Mybpc2
|
APN |
7 |
44,164,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02904:Mybpc2
|
APN |
7 |
44,171,765 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03034:Mybpc2
|
APN |
7 |
44,161,321 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03296:Mybpc2
|
APN |
7 |
44,156,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0094:Mybpc2
|
UTSW |
7 |
44,166,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Mybpc2
|
UTSW |
7 |
44,158,453 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0330:Mybpc2
|
UTSW |
7 |
44,158,453 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0336:Mybpc2
|
UTSW |
7 |
44,155,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Mybpc2
|
UTSW |
7 |
44,161,994 (GRCm39) |
unclassified |
probably benign |
|
|
R0821:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0822:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0823:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0854:Mybpc2
|
UTSW |
7 |
44,166,426 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0938:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0939:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0940:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0941:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1166:Mybpc2
|
UTSW |
7 |
44,154,449 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1219:Mybpc2
|
UTSW |
7 |
44,165,458 (GRCm39) |
splice site |
probably null |
|
|
R1559:Mybpc2
|
UTSW |
7 |
44,163,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1732:Mybpc2
|
UTSW |
7 |
44,163,099 (GRCm39) |
missense |
probably benign |
|
|
R1802:Mybpc2
|
UTSW |
7 |
44,161,894 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2157:Mybpc2
|
UTSW |
7 |
44,159,269 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2216:Mybpc2
|
UTSW |
7 |
44,161,924 (GRCm39) |
splice site |
probably null |
|
|
R2406:Mybpc2
|
UTSW |
7 |
44,171,149 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2411:Mybpc2
|
UTSW |
7 |
44,155,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3079:Mybpc2
|
UTSW |
7 |
44,155,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Mybpc2
|
UTSW |
7 |
44,155,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4736:Mybpc2
|
UTSW |
7 |
44,161,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5316:Mybpc2
|
UTSW |
7 |
44,169,806 (GRCm39) |
nonsense |
probably null |
|
|
R5426:Mybpc2
|
UTSW |
7 |
44,159,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5498:Mybpc2
|
UTSW |
7 |
44,165,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5539:Mybpc2
|
UTSW |
7 |
44,164,317 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5644:Mybpc2
|
UTSW |
7 |
44,156,477 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5909:Mybpc2
|
UTSW |
7 |
44,156,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6435:Mybpc2
|
UTSW |
7 |
44,155,481 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6662:Mybpc2
|
UTSW |
7 |
44,155,590 (GRCm39) |
missense |
probably benign |
|
|
R6901:Mybpc2
|
UTSW |
7 |
44,154,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7188:Mybpc2
|
UTSW |
7 |
44,155,617 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7389:Mybpc2
|
UTSW |
7 |
44,155,028 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7405:Mybpc2
|
UTSW |
7 |
44,156,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Mybpc2
|
UTSW |
7 |
44,155,571 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7597:Mybpc2
|
UTSW |
7 |
44,159,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7772:Mybpc2
|
UTSW |
7 |
44,165,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7824:Mybpc2
|
UTSW |
7 |
44,154,284 (GRCm39) |
splice site |
probably null |
|
|
R8003:Mybpc2
|
UTSW |
7 |
44,158,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8179:Mybpc2
|
UTSW |
7 |
44,159,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8187:Mybpc2
|
UTSW |
7 |
44,161,894 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8413:Mybpc2
|
UTSW |
7 |
44,157,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Mybpc2
|
UTSW |
7 |
44,155,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Mybpc2
|
UTSW |
7 |
44,158,999 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9441:Mybpc2
|
UTSW |
7 |
44,166,330 (GRCm39) |
missense |
probably null |
0.96 |
|
X0052:Mybpc2
|
UTSW |
7 |
44,156,566 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0065:Mybpc2
|
UTSW |
7 |
44,154,809 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Mybpc2
|
UTSW |
7 |
44,165,927 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1176:Mybpc2
|
UTSW |
7 |
44,171,120 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTATGACCTCCATAGCAACTAGG -3'
(R):5'- GCTCCCTGCTAGATGTCTCT -3'
Sequencing Primer
(F):5'- CTCCATAGCAACTAGGGATCTC -3'
(R):5'- CCTAGCTTACTTGATGAGACCAGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation