Incidental Mutation 'R7677:Mybpc3'
| ID |
592487 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90959376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 704
(D704V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111430]
[ENSMUST00000137942]
[ENSMUST00000169776]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111430
AA Change: D703V
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: D703V
| 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: D539V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: D539V
| 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 |
probably benign
Transcript: ENSMUST00000169776
AA Change: D704V
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: D704V
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,349 (GRCm39) |
R2699* |
probably null |
Het |
| Adra2a |
G |
A |
19: 54,035,375 (GRCm39) |
V244M |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,344,845 (GRCm39) |
S12G |
probably benign |
Het |
| Arhgap20 |
T |
A |
9: 51,751,698 (GRCm39) |
M383K |
probably damaging |
Het |
| Armc12 |
T |
C |
17: 28,756,865 (GRCm39) |
V210A |
probably benign |
Het |
| Ash1l |
A |
T |
3: 88,950,500 (GRCm39) |
H2131L |
probably damaging |
Het |
| Atg5 |
T |
C |
10: 44,223,035 (GRCm39) |
L219P |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,474,915 (GRCm39) |
M507L |
probably benign |
Het |
| Atr |
T |
A |
9: 95,767,515 (GRCm39) |
L1191I |
probably damaging |
Het |
| B4galt5 |
T |
C |
2: 167,146,998 (GRCm39) |
T279A |
probably damaging |
Het |
| Bglap2 |
T |
C |
3: 88,285,280 (GRCm39) |
E62G |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,127,926 (GRCm39) |
S1157P |
unknown |
Het |
| Ccdc17 |
T |
C |
4: 116,454,962 (GRCm39) |
|
probably null |
Het |
| Cdc6 |
T |
A |
11: 98,810,191 (GRCm39) |
L500* |
probably null |
Het |
| Dst |
G |
T |
1: 34,208,403 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
C |
T |
3: 84,811,373 (GRCm39) |
T166I |
|
Het |
| Fer1l6 |
T |
C |
15: 58,474,139 (GRCm39) |
V955A |
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,344,941 (GRCm38) |
E82G |
probably benign |
Het |
| Flii |
T |
C |
11: 60,610,971 (GRCm39) |
D486G |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,804,854 (GRCm39) |
T476A |
probably benign |
Het |
| Gbp3 |
C |
T |
3: 142,266,264 (GRCm39) |
|
probably benign |
Het |
| Hebp2 |
T |
C |
10: 18,421,547 (GRCm39) |
|
probably benign |
Het |
| Hhipl2 |
T |
A |
1: 183,204,951 (GRCm39) |
M88K |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,459,171 (GRCm39) |
C605R |
probably benign |
Het |
| Hoxd13 |
T |
C |
2: 74,498,909 (GRCm39) |
S86P |
probably benign |
Het |
| Hspa12a |
G |
T |
19: 58,849,317 (GRCm39) |
A2E |
probably benign |
Het |
| Il1rl1 |
A |
C |
1: 40,485,864 (GRCm39) |
*338C |
probably null |
Het |
| Lrrc37a |
G |
T |
11: 103,390,464 (GRCm39) |
P1654T |
probably benign |
Het |
| Napsa |
A |
T |
7: 44,231,130 (GRCm39) |
K120* |
probably null |
Het |
| Nat3 |
A |
C |
8: 68,000,139 (GRCm39) |
Y6S |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,774,823 (GRCm39) |
Q180* |
probably null |
Het |
| Nynrin |
T |
A |
14: 56,107,693 (GRCm39) |
D933E |
probably benign |
Het |
| Or10al3 |
T |
A |
17: 38,011,957 (GRCm39) |
I132K |
probably damaging |
Het |
| Or10c1 |
A |
T |
17: 37,522,386 (GRCm39) |
Y119* |
probably null |
Het |
| Or2l5 |
G |
A |
16: 19,333,678 (GRCm39) |
A236V |
probably benign |
Het |
| Or6k2 |
A |
T |
1: 173,986,614 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,831 (GRCm39) |
S263T |
possibly damaging |
Het |
| Or8c16 |
T |
A |
9: 38,130,324 (GRCm39) |
N65K |
probably damaging |
Het |
| Or9s23 |
C |
T |
1: 92,500,983 (GRCm39) |
T30I |
not run |
Het |
| Pbx1 |
A |
T |
1: 168,030,995 (GRCm39) |
F208I |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,144,605 (GRCm39) |
V232A |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,558,593 (GRCm39) |
Y605H |
possibly damaging |
Het |
| Pde3a |
T |
A |
6: 141,195,983 (GRCm39) |
L223Q |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pitpnm2 |
G |
A |
5: 124,261,632 (GRCm39) |
R977C |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,699,788 (GRCm39) |
D2049E |
probably benign |
Het |
| Psmd6 |
T |
C |
14: 14,120,837 (GRCm38) |
D16G |
probably benign |
Het |
| Pth2r |
C |
A |
1: 65,427,605 (GRCm39) |
T426N |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,705,928 (GRCm39) |
L1865M |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,664,245 (GRCm39) |
Q1702L |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,446,176 (GRCm39) |
Y135C |
probably benign |
Het |
| Sdha |
G |
A |
13: 74,481,172 (GRCm39) |
R345* |
probably null |
Het |
| Selp |
A |
T |
1: 163,961,525 (GRCm39) |
S413C |
probably damaging |
Het |
| Sirt2 |
G |
A |
7: 28,484,835 (GRCm39) |
C221Y |
probably damaging |
Het |
| Skic2 |
A |
T |
17: 35,067,140 (GRCm39) |
S100T |
probably benign |
Het |
| Socs7 |
C |
A |
11: 97,280,468 (GRCm39) |
Q566K |
probably benign |
Het |
| Spdye4c |
G |
A |
2: 128,436,056 (GRCm39) |
V151M |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,158,980 (GRCm39) |
D2952G |
unknown |
Het |
| Srd5a2 |
A |
T |
17: 74,354,749 (GRCm39) |
L25Q |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,298,410 (GRCm39) |
V254D |
probably damaging |
Het |
| Tap2 |
T |
C |
17: 34,424,494 (GRCm39) |
F76L |
probably benign |
Het |
| Tdpoz4 |
T |
A |
3: 93,704,815 (GRCm39) |
*371R |
probably null |
Het |
| Tm9sf3 |
A |
T |
19: 41,209,743 (GRCm39) |
F441I |
probably damaging |
Het |
| Tmem259 |
C |
T |
10: 79,814,414 (GRCm39) |
R314Q |
probably damaging |
Het |
| Trim28 |
G |
T |
7: 12,762,040 (GRCm39) |
R312L |
possibly damaging |
Het |
| Tsc1 |
A |
G |
2: 28,562,829 (GRCm39) |
T393A |
probably benign |
Het |
| Txndc11 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 10,952,338 (GRCm39) |
|
probably benign |
Het |
| Ube2v2 |
T |
C |
16: 15,398,964 (GRCm39) |
T42A |
probably benign |
Het |
| Vmn2r-ps158 |
A |
C |
7: 42,674,163 (GRCm39) |
H414P |
probably damaging |
Het |
| Zfp609 |
A |
T |
9: 65,604,456 (GRCm39) |
S1342R |
possibly damaging |
Het |
| Zg16 |
A |
T |
7: 126,649,763 (GRCm39) |
V66E |
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 |
|
IGL02135:Mybpc3
|
APN |
2 |
90,955,171 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGGGTGAAGCTTTGCTC -3'
(R):5'- ATTCCAATGACGTCCTAGCAAAG -3'
Sequencing Primer
(F):5'- TCCCGTCCTGAAGGCATAC -3'
(R):5'- TGACGTCCTAGCAAAGTCAAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation