Incidental Mutation 'IGL02135:Mybpc3'
ID |
281276 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mybpc3
|
Ensembl Gene |
ENSMUSG00000002100 |
Gene Name |
myosin binding protein C, cardiac |
Synonyms |
cardiac C-protein |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.602)
|
Stock # |
IGL02135
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90955171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 507
(F507L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127070
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111430]
[ENSMUST00000137942]
[ENSMUST00000169776]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111430
AA Change: F506L
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107058 Gene: ENSMUSG00000002100 AA Change: F506L
Domain | Start | End | E-Value | Type |
IG
|
24 |
103 |
4.86e-2 |
SMART |
low complexity region
|
131 |
143 |
N/A |
INTRINSIC |
IG
|
167 |
263 |
2.81e-7 |
SMART |
IG
|
373 |
453 |
1.25e-4 |
SMART |
IG
|
463 |
544 |
2.48e-8 |
SMART |
IG
|
554 |
640 |
3.16e-1 |
SMART |
IG
|
659 |
772 |
3.91e-6 |
SMART |
FN3
|
775 |
858 |
2.5e-11 |
SMART |
FN3
|
873 |
956 |
7.06e-11 |
SMART |
IG
|
983 |
1066 |
3.3e-4 |
SMART |
FN3
|
1069 |
1151 |
4.38e-7 |
SMART |
IGc2
|
1196 |
1263 |
6.21e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137942
AA Change: F342L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000119994 Gene: ENSMUSG00000002100 AA Change: F342L
Domain | Start | End | E-Value | Type |
IG
|
3 |
99 |
2.81e-7 |
SMART |
low complexity region
|
135 |
152 |
N/A |
INTRINSIC |
IG
|
209 |
289 |
1.25e-4 |
SMART |
IG
|
299 |
380 |
2.48e-8 |
SMART |
IG
|
390 |
476 |
3.16e-1 |
SMART |
IG
|
495 |
608 |
3.91e-6 |
SMART |
FN3
|
611 |
694 |
2.5e-11 |
SMART |
FN3
|
709 |
792 |
7.06e-11 |
SMART |
IG
|
819 |
902 |
3.3e-4 |
SMART |
FN3
|
905 |
987 |
4.38e-7 |
SMART |
IGc2
|
1032 |
1099 |
6.21e-9 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169776
AA Change: F507L
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127070 Gene: ENSMUSG00000002100 AA Change: F507L
Domain | Start | End | E-Value | Type |
IG
|
24 |
103 |
4.86e-2 |
SMART |
low complexity region
|
131 |
143 |
N/A |
INTRINSIC |
IG
|
167 |
263 |
2.81e-7 |
SMART |
IG
|
374 |
454 |
1.25e-4 |
SMART |
IG
|
464 |
545 |
2.48e-8 |
SMART |
IG
|
555 |
641 |
3.16e-1 |
SMART |
IG
|
660 |
773 |
3.91e-6 |
SMART |
FN3
|
776 |
859 |
2.5e-11 |
SMART |
FN3
|
874 |
957 |
7.06e-11 |
SMART |
IG
|
984 |
1067 |
3.3e-4 |
SMART |
FN3
|
1070 |
1152 |
4.38e-7 |
SMART |
IGc2
|
1197 |
1264 |
6.21e-9 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,949,205 (GRCm39) |
H1034R |
possibly damaging |
Het |
Aoc1l1 |
G |
A |
6: 48,952,498 (GRCm39) |
R141Q |
probably benign |
Het |
App |
A |
G |
16: 84,876,726 (GRCm39) |
|
probably null |
Het |
Arhgap23 |
G |
T |
11: 97,342,528 (GRCm39) |
R270L |
probably damaging |
Het |
Arhgap36 |
T |
C |
X: 48,586,066 (GRCm39) |
I342T |
possibly damaging |
Het |
Arhgef12 |
A |
T |
9: 42,883,461 (GRCm39) |
M1356K |
possibly damaging |
Het |
Armh4 |
T |
C |
14: 50,011,386 (GRCm39) |
K107R |
probably damaging |
Het |
Asap3 |
A |
C |
4: 135,968,464 (GRCm39) |
|
probably null |
Het |
Atl2 |
A |
G |
17: 80,167,214 (GRCm39) |
|
probably null |
Het |
Cdh20 |
T |
A |
1: 110,066,004 (GRCm39) |
Y759* |
probably null |
Het |
Celsr3 |
A |
G |
9: 108,704,755 (GRCm39) |
T413A |
probably benign |
Het |
Cep97 |
A |
T |
16: 55,743,330 (GRCm39) |
I102K |
probably damaging |
Het |
Ces2a |
T |
C |
8: 105,466,813 (GRCm39) |
S441P |
probably benign |
Het |
Cops2 |
T |
C |
2: 125,674,163 (GRCm39) |
T435A |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,911,989 (GRCm39) |
N56S |
probably benign |
Het |
Dennd2a |
G |
A |
6: 39,457,205 (GRCm39) |
R746* |
probably null |
Het |
Dnah5 |
T |
A |
15: 28,248,031 (GRCm39) |
C723S |
possibly damaging |
Het |
Dnah7a |
A |
C |
1: 53,662,632 (GRCm39) |
V643G |
probably benign |
Het |
Dnah9 |
A |
T |
11: 66,008,318 (GRCm39) |
S836T |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,612,454 (GRCm39) |
V164D |
probably damaging |
Het |
Gcfc2 |
A |
T |
6: 81,918,381 (GRCm39) |
D357V |
probably damaging |
Het |
Grem1 |
T |
C |
2: 113,580,132 (GRCm39) |
N123S |
probably damaging |
Het |
Gria1 |
T |
C |
11: 57,076,679 (GRCm39) |
V94A |
probably damaging |
Het |
Hipk2 |
G |
A |
6: 38,795,934 (GRCm39) |
H112Y |
possibly damaging |
Het |
Il7r |
T |
C |
15: 9,508,092 (GRCm39) |
N410S |
probably benign |
Het |
Insr |
A |
T |
8: 3,308,741 (GRCm39) |
S98R |
probably damaging |
Het |
Klhl7 |
T |
A |
5: 24,346,279 (GRCm39) |
Y308* |
probably null |
Het |
Lcp1 |
T |
C |
14: 75,437,926 (GRCm39) |
V112A |
probably benign |
Het |
Map2 |
A |
T |
1: 66,419,920 (GRCm39) |
R84* |
probably null |
Het |
Mgst1 |
A |
T |
6: 138,124,766 (GRCm39) |
M27L |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,559,707 (GRCm39) |
L740P |
probably damaging |
Het |
Nqo2 |
A |
T |
13: 34,169,326 (GRCm39) |
K183* |
probably null |
Het |
Nt5c1b |
T |
C |
12: 10,427,194 (GRCm39) |
Y315H |
probably damaging |
Het |
Odc1 |
T |
A |
12: 17,597,674 (GRCm39) |
I48N |
probably damaging |
Het |
Or2a56 |
A |
G |
6: 42,932,585 (GRCm39) |
D51G |
probably damaging |
Het |
Or7a37 |
T |
A |
10: 78,805,940 (GRCm39) |
S152R |
probably damaging |
Het |
Osbpl5 |
T |
A |
7: 143,258,862 (GRCm39) |
D236V |
probably damaging |
Het |
Prkg1 |
A |
G |
19: 30,970,476 (GRCm39) |
Y212H |
probably benign |
Het |
Pttg1ip |
T |
C |
10: 77,425,578 (GRCm39) |
|
probably null |
Het |
Serpina1f |
T |
A |
12: 103,659,974 (GRCm39) |
T103S |
possibly damaging |
Het |
Skp2 |
T |
C |
15: 9,125,234 (GRCm39) |
D115G |
probably benign |
Het |
Slc25a30 |
C |
T |
14: 76,004,435 (GRCm39) |
V221I |
probably benign |
Het |
Slc7a3 |
A |
C |
X: 100,123,098 (GRCm39) |
D609E |
probably benign |
Het |
Strc |
C |
T |
2: 121,195,315 (GRCm39) |
G1656D |
probably damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,441,891 (GRCm39) |
F234L |
probably damaging |
Het |
Tgm7 |
T |
G |
2: 120,929,519 (GRCm39) |
I252L |
possibly damaging |
Het |
Tlr5 |
A |
G |
1: 182,800,819 (GRCm39) |
D41G |
possibly damaging |
Het |
Tns2 |
T |
C |
15: 102,021,461 (GRCm39) |
L1034P |
probably damaging |
Het |
Trim15 |
A |
G |
17: 37,177,956 (GRCm39) |
V13A |
probably benign |
Het |
Uros |
C |
T |
7: 133,288,734 (GRCm39) |
V258M |
possibly damaging |
Het |
Wdr75 |
A |
G |
1: 45,853,723 (GRCm39) |
Y378C |
probably damaging |
Het |
Wdr75 |
G |
A |
1: 45,856,608 (GRCm39) |
|
probably null |
Het |
Wdr82 |
G |
T |
9: 106,048,443 (GRCm39) |
R9L |
possibly damaging |
Het |
Ybx3 |
G |
A |
6: 131,357,892 (GRCm39) |
R125C |
probably damaging |
Het |
Zc3h12b |
A |
G |
X: 94,942,870 (GRCm39) |
T49A |
probably benign |
Het |
Zfyve27 |
G |
A |
19: 42,172,575 (GRCm39) |
V279M |
probably damaging |
Het |
|
Other mutations in Mybpc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00904:Mybpc3
|
APN |
2 |
90,950,374 (GRCm39) |
missense |
probably benign |
|
IGL00985:Mybpc3
|
APN |
2 |
90,965,704 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01926:Mybpc3
|
APN |
2 |
90,965,752 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02187:Mybpc3
|
APN |
2 |
90,965,797 (GRCm39) |
missense |
probably benign |
|
IGL02219:Mybpc3
|
APN |
2 |
90,951,368 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02752:Mybpc3
|
APN |
2 |
90,962,982 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03002:Mybpc3
|
APN |
2 |
90,954,234 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03118:Mybpc3
|
APN |
2 |
90,954,848 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03238:Mybpc3
|
APN |
2 |
90,962,004 (GRCm39) |
missense |
probably damaging |
1.00 |
amanitin
|
UTSW |
2 |
90,948,524 (GRCm39) |
missense |
probably null |
0.98 |
fungus
|
UTSW |
2 |
90,954,306 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0010:Mybpc3
|
UTSW |
2 |
90,965,178 (GRCm39) |
nonsense |
probably null |
|
R0114:Mybpc3
|
UTSW |
2 |
90,954,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R0139:Mybpc3
|
UTSW |
2 |
90,950,682 (GRCm39) |
splice site |
probably benign |
|
R0282:Mybpc3
|
UTSW |
2 |
90,954,369 (GRCm39) |
splice site |
probably benign |
|
R0673:Mybpc3
|
UTSW |
2 |
90,950,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R1388:Mybpc3
|
UTSW |
2 |
90,953,219 (GRCm39) |
missense |
probably benign |
0.43 |
R2159:Mybpc3
|
UTSW |
2 |
90,955,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R2424:Mybpc3
|
UTSW |
2 |
90,966,138 (GRCm39) |
missense |
probably benign |
0.20 |
R3983:Mybpc3
|
UTSW |
2 |
90,965,714 (GRCm39) |
missense |
probably benign |
|
R4322:Mybpc3
|
UTSW |
2 |
90,954,306 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4909:Mybpc3
|
UTSW |
2 |
90,965,157 (GRCm39) |
missense |
probably benign |
|
R4913:Mybpc3
|
UTSW |
2 |
90,956,609 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4965:Mybpc3
|
UTSW |
2 |
90,949,592 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5248:Mybpc3
|
UTSW |
2 |
90,955,573 (GRCm39) |
splice site |
probably null |
|
R5311:Mybpc3
|
UTSW |
2 |
90,959,023 (GRCm39) |
nonsense |
probably null |
|
R5332:Mybpc3
|
UTSW |
2 |
90,953,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R5635:Mybpc3
|
UTSW |
2 |
90,965,174 (GRCm39) |
missense |
probably benign |
0.00 |
R5647:Mybpc3
|
UTSW |
2 |
90,952,067 (GRCm39) |
splice site |
probably null |
|
R5698:Mybpc3
|
UTSW |
2 |
90,955,194 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5832:Mybpc3
|
UTSW |
2 |
90,949,520 (GRCm39) |
splice site |
probably null |
|
R5895:Mybpc3
|
UTSW |
2 |
90,955,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R6833:Mybpc3
|
UTSW |
2 |
90,955,773 (GRCm39) |
splice site |
probably null |
|
R7061:Mybpc3
|
UTSW |
2 |
90,955,749 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7144:Mybpc3
|
UTSW |
2 |
90,964,949 (GRCm39) |
missense |
probably benign |
0.03 |
R7169:Mybpc3
|
UTSW |
2 |
90,948,524 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7472:Mybpc3
|
UTSW |
2 |
90,962,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R7538:Mybpc3
|
UTSW |
2 |
90,950,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R7677:Mybpc3
|
UTSW |
2 |
90,959,376 (GRCm39) |
missense |
probably benign |
0.04 |
R7955:Mybpc3
|
UTSW |
2 |
90,956,401 (GRCm39) |
splice site |
probably null |
|
R8290:Mybpc3
|
UTSW |
2 |
90,951,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8486:Mybpc3
|
UTSW |
2 |
90,959,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R8821:Mybpc3
|
UTSW |
2 |
90,948,524 (GRCm39) |
missense |
probably null |
0.98 |
R8885:Mybpc3
|
UTSW |
2 |
90,954,237 (GRCm39) |
missense |
probably benign |
|
R8938:Mybpc3
|
UTSW |
2 |
90,954,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R9420:Mybpc3
|
UTSW |
2 |
90,965,478 (GRCm39) |
nonsense |
probably null |
|
R9581:Mybpc3
|
UTSW |
2 |
90,949,616 (GRCm39) |
missense |
probably benign |
|
Z1088:Mybpc3
|
UTSW |
2 |
90,965,704 (GRCm39) |
missense |
probably benign |
0.16 |
Z1176:Mybpc3
|
UTSW |
2 |
90,950,748 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1177:Mybpc3
|
UTSW |
2 |
90,954,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2015-04-16 |