Incidental Mutation 'R5539:Mybpc2'
| ID |
435822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc2
|
| Ensembl Gene |
ENSMUSG00000038670 |
| Gene Name |
myosin binding protein C, fast-type |
| Synonyms |
Fast-type C-protein |
| MMRRC Submission |
043097-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5539 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44164317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 416
(V416A)
|
| 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 benign
Transcript: ENSMUST00000165208
AA Change: V416A
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: V416A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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. 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,555,917 (GRCm39) |
S44C |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,963,557 (GRCm39) |
I846V |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,111,932 (GRCm39) |
L144H |
probably benign |
Het |
| Ccdc141 |
A |
T |
2: 76,845,437 (GRCm39) |
I1210N |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,191,587 (GRCm39) |
T330A |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,964,486 (GRCm39) |
K2444E |
probably benign |
Het |
| Dnajc3 |
G |
A |
14: 119,208,159 (GRCm39) |
V265M |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,753 (GRCm39) |
Y2222N |
unknown |
Het |
| Flnc |
G |
T |
6: 29,446,229 (GRCm39) |
G882V |
probably damaging |
Het |
| Fndc5 |
T |
A |
4: 129,032,514 (GRCm39) |
V39D |
probably damaging |
Het |
| Gabrr3 |
A |
T |
16: 59,281,758 (GRCm39) |
H371L |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,030,438 (GRCm39) |
H33L |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,124,646 (GRCm39) |
|
noncoding transcript |
Het |
| Kri1 |
G |
A |
9: 21,190,668 (GRCm39) |
Q280* |
probably null |
Het |
| Lcp1 |
T |
C |
14: 75,466,738 (GRCm39) |
V615A |
probably benign |
Het |
| Ltbp4 |
T |
C |
7: 27,027,149 (GRCm39) |
Y407C |
probably damaging |
Het |
| Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,044,898 (GRCm39) |
R1607C |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,056,525 (GRCm39) |
|
probably null |
Het |
| Ntf5 |
G |
T |
7: 45,065,354 (GRCm39) |
R162L |
probably benign |
Het |
| Nxpe3 |
A |
G |
16: 55,711,034 (GRCm39) |
W2R |
possibly damaging |
Het |
| Or10d1c |
T |
C |
9: 38,893,573 (GRCm39) |
I256V |
possibly damaging |
Het |
| Or14j4 |
T |
A |
17: 37,921,646 (GRCm39) |
M1L |
probably benign |
Het |
| Or1m1 |
G |
A |
9: 18,666,134 (GRCm39) |
R266C |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,433 (GRCm39) |
C115S |
probably benign |
Het |
| Pan2 |
C |
A |
10: 128,144,002 (GRCm39) |
D99E |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,414,797 (GRCm39) |
H776R |
possibly damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,264 (GRCm39) |
H1342R |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,394,464 (GRCm39) |
T1800A |
probably benign |
Het |
| Prss40 |
T |
C |
1: 34,591,760 (GRCm39) |
*148W |
probably null |
Het |
| Pygo1 |
C |
T |
9: 72,852,061 (GRCm39) |
P83S |
probably damaging |
Het |
| Raf1 |
G |
T |
6: 115,596,317 (GRCm39) |
S619R |
probably damaging |
Het |
| Rtf1 |
A |
G |
2: 119,560,405 (GRCm39) |
M596V |
possibly damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,829,126 (GRCm39) |
D578E |
possibly damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,153,737 (GRCm39) |
V18A |
probably damaging |
Het |
| Spata31 |
T |
A |
13: 65,070,783 (GRCm39) |
I977K |
probably benign |
Het |
| Tor2a |
T |
C |
2: 32,650,672 (GRCm39) |
I222T |
probably damaging |
Het |
| Trim23 |
T |
C |
13: 104,334,541 (GRCm39) |
V347A |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,851,386 (GRCm39) |
S893P |
probably damaging |
Het |
| Trmt10c |
G |
A |
16: 55,855,324 (GRCm39) |
P104S |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,850,877 (GRCm39) |
Y1765F |
probably damaging |
Het |
| Zfp951 |
C |
T |
5: 104,962,712 (GRCm39) |
E285K |
probably 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 |
|
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 |
|
R8830:Mybpc2
|
UTSW |
7 |
44,161,965 (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'- TGGACTCCACGTCAACCAG -3'
(R):5'- CTTCCACACTGAGACCGCTG -3'
Sequencing Primer
(F):5'- AGCATACAGACCTCCTTCAGTGTTG -3'
(R):5'- GCTGGCCGCCTTCCCTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation