Incidental Mutation 'R7061:Mybpc3'
| ID |
548240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc3
|
| Ensembl Gene |
ENSMUSG00000002100 |
| Gene Name |
myosin binding protein C, cardiac |
| Synonyms |
cardiac C-protein |
| MMRRC Submission |
045384-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R7061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90955749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 594
(I594M)
|
| 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: I593M
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: I593M
| 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 |
possibly damaging
Transcript: ENSMUST00000137942
AA Change: I429M
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: I429M
| 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: I594M
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: I594M
| 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 |
99% (68/69) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aard |
G |
A |
15: 51,903,617 (GRCm39) |
M13I |
probably benign |
Het |
| Abcb5 |
A |
C |
12: 118,841,509 (GRCm39) |
Y979D |
probably damaging |
Het |
| Adgrb1 |
G |
C |
15: 74,441,730 (GRCm39) |
V4L |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,110,757 (GRCm39) |
R1006Q |
unknown |
Het |
| Bpifa6 |
A |
T |
2: 153,834,236 (GRCm39) |
T343S |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,724,793 (GRCm39) |
C2957* |
probably null |
Het |
| Chd6 |
G |
A |
2: 160,867,885 (GRCm39) |
Q428* |
probably null |
Het |
| Col5a1 |
C |
A |
2: 27,915,690 (GRCm39) |
C191* |
probably null |
Het |
| Cpox |
A |
G |
16: 58,491,223 (GRCm39) |
I145V |
possibly damaging |
Het |
| Csnk2a1 |
C |
T |
2: 152,116,091 (GRCm39) |
R268C |
probably benign |
Het |
| Dclk2 |
A |
G |
3: 86,739,038 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
T |
C |
7: 109,504,386 (GRCm39) |
E909G |
probably benign |
Het |
| Depdc1a |
T |
A |
3: 159,228,489 (GRCm39) |
S414T |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,007,703 (GRCm39) |
F1502S |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,558,951 (GRCm39) |
A448S |
probably benign |
Het |
| Dsg1c |
C |
A |
18: 20,410,066 (GRCm39) |
N511K |
probably benign |
Het |
| Epc2 |
G |
T |
2: 49,425,334 (GRCm39) |
R108L |
probably damaging |
Het |
| Erp44 |
T |
A |
4: 48,219,375 (GRCm39) |
I147F |
probably benign |
Het |
| Evc |
T |
C |
5: 37,476,446 (GRCm39) |
T368A |
possibly damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,452,448 (GRCm39) |
R738S |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,335,518 (GRCm39) |
T305A |
probably damaging |
Het |
| Grk5 |
A |
G |
19: 61,034,530 (GRCm39) |
T93A |
probably benign |
Het |
| Grm2 |
A |
T |
9: 106,528,424 (GRCm39) |
N153K |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,540,003 (GRCm39) |
T1007A |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,307 (GRCm39) |
L162P |
probably damaging |
Het |
| Hmgcr |
T |
A |
13: 96,802,656 (GRCm39) |
Q81L |
possibly damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,163,691 (GRCm39) |
K218E |
unknown |
Het |
| Hydin |
A |
T |
8: 111,329,920 (GRCm39) |
I4885F |
possibly damaging |
Het |
| Ibsp |
A |
G |
5: 104,457,768 (GRCm39) |
|
probably null |
Het |
| Igfals |
T |
C |
17: 25,099,281 (GRCm39) |
L124P |
probably damaging |
Het |
| Il24 |
T |
A |
1: 130,811,108 (GRCm39) |
H142L |
possibly damaging |
Het |
| Iqca1l |
A |
G |
5: 24,750,063 (GRCm39) |
M660T |
probably benign |
Het |
| Kcnh2 |
A |
T |
5: 24,536,920 (GRCm39) |
H221Q |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,796,331 (GRCm39) |
S454P |
probably damaging |
Het |
| Meiosin |
A |
T |
7: 18,834,053 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b1 |
C |
T |
10: 39,879,382 (GRCm39) |
V172M |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,946,008 (GRCm39) |
I763K |
probably benign |
Het |
| Neo1 |
T |
A |
9: 58,897,724 (GRCm39) |
R77S |
possibly damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,502,780 (GRCm39) |
I265M |
probably benign |
Het |
| Or52n5 |
T |
C |
7: 104,587,883 (GRCm39) |
L50P |
probably damaging |
Het |
| Or5bw2 |
A |
G |
7: 6,573,782 (GRCm39) |
Y264C |
probably damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,942 (GRCm39) |
V276D |
possibly damaging |
Het |
| Pcdhgb5 |
C |
A |
18: 37,864,976 (GRCm39) |
P257Q |
probably benign |
Het |
| Phactr1 |
A |
G |
13: 43,286,457 (GRCm39) |
D586G |
probably damaging |
Het |
| Pkn3 |
T |
A |
2: 29,973,548 (GRCm39) |
|
probably null |
Het |
| Prob1 |
A |
T |
18: 35,787,553 (GRCm39) |
S234T |
probably benign |
Het |
| Rab14 |
A |
T |
2: 35,073,429 (GRCm39) |
L131* |
probably null |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rhebl1 |
A |
G |
15: 98,777,164 (GRCm39) |
L103P |
probably damaging |
Het |
| Rnf10 |
G |
T |
5: 115,395,149 (GRCm39) |
F146L |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,087 (GRCm39) |
K360R |
possibly damaging |
Het |
| Slc6a9 |
C |
T |
4: 117,725,261 (GRCm39) |
T575I |
probably benign |
Het |
| Smo |
A |
G |
6: 29,760,229 (GRCm39) |
H776R |
probably damaging |
Het |
| Speer1f |
T |
C |
5: 11,469,071 (GRCm39) |
V74A |
possibly damaging |
Het |
| Tns2 |
A |
G |
15: 102,012,914 (GRCm39) |
M1V |
probably null |
Het |
| Ttn |
C |
A |
2: 76,725,036 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,240 (GRCm39) |
M130L |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,755,036 (GRCm39) |
H248Y |
probably benign |
Het |
| Vit |
A |
T |
17: 78,932,585 (GRCm39) |
N564I |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,310 (GRCm39) |
Y263* |
probably null |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,620 (GRCm39) |
Y609F |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,908,512 (GRCm39) |
I876V |
probably benign |
Het |
| Zfp442 |
A |
G |
2: 150,249,937 (GRCm39) |
I655T |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,779,622 (GRCm39) |
C215S |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,121,069 (GRCm39) |
T173A |
probably benign |
Het |
| Zfp69 |
A |
T |
4: 120,788,598 (GRCm39) |
V239D |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCCGTAACTGCACATACC -3'
(R):5'- TACTGCCACTGCCCAGTTTG -3'
Sequencing Primer
(F):5'- AGAGGCCTGCATACCACTG -3'
(R):5'- CCAGTTTGGGGAATGGCAG -3'
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| Posted On |
2019-05-13 |
Incidental Mutation