Incidental Mutation 'R5698:Mybpc3'
| ID |
450769 |
| 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 # |
R5698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 90955194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 349
(H349Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119994
(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: H513Q
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: H513Q
| 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: H349Q
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: H349Q
| 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: H514Q
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: H514Q
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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 |
|---|
| 4930556J24Rik |
A |
G |
11: 3,926,366 (GRCm39) |
K334E |
possibly damaging |
Het |
| Ache |
G |
A |
5: 137,288,821 (GRCm39) |
V176M |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,784,605 (GRCm39) |
D539G |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,803,831 (GRCm39) |
|
probably benign |
Het |
| Amigo2 |
G |
A |
15: 97,143,607 (GRCm39) |
Q272* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,256 (GRCm39) |
T394A |
possibly damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,925 (GRCm39) |
H171Q |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,489,499 (GRCm39) |
D277G |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,417,873 (GRCm39) |
V95A |
probably benign |
Het |
| Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
A |
T |
5: 67,924,496 (GRCm39) |
N289K |
probably benign |
Het |
| Cand2 |
C |
T |
6: 115,768,704 (GRCm39) |
L505F |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,730,965 (GRCm39) |
K614R |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,272,632 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,946,511 (GRCm39) |
L976* |
probably null |
Het |
| Ddx39b |
T |
C |
17: 35,470,287 (GRCm39) |
V267A |
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,164,655 (GRCm39) |
Q709L |
probably damaging |
Het |
| Eno4 |
A |
G |
19: 58,956,904 (GRCm39) |
|
probably null |
Het |
| Exoc3 |
A |
G |
13: 74,322,134 (GRCm39) |
L647P |
probably benign |
Het |
| Eya4 |
T |
C |
10: 23,015,975 (GRCm39) |
S308G |
possibly damaging |
Het |
| Fbxo41 |
T |
C |
6: 85,454,638 (GRCm39) |
T693A |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,791,447 (GRCm39) |
T903A |
possibly damaging |
Het |
| Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,559,926 (GRCm39) |
I1527T |
possibly damaging |
Het |
| H13 |
T |
A |
2: 152,530,875 (GRCm39) |
I220N |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,531,312 (GRCm39) |
R468G |
probably damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,324,538 (GRCm39) |
S243P |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,455 (GRCm39) |
H587R |
probably benign |
Het |
| Kcnk1 |
C |
T |
8: 126,752,144 (GRCm39) |
T250M |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,339,532 (GRCm39) |
V458A |
probably benign |
Het |
| Krt14 |
T |
C |
11: 100,096,451 (GRCm39) |
T208A |
probably benign |
Het |
| Neurl3 |
T |
A |
1: 36,305,587 (GRCm39) |
T207S |
possibly damaging |
Het |
| Nol9 |
T |
C |
4: 152,135,031 (GRCm39) |
V388A |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,376,961 (GRCm39) |
N315D |
probably damaging |
Het |
| Oas1h |
G |
T |
5: 121,009,045 (GRCm39) |
A252S |
probably damaging |
Het |
| Or13c7b |
C |
A |
4: 43,821,183 (GRCm39) |
M59I |
probably damaging |
Het |
| Pcbp1 |
G |
A |
6: 86,502,134 (GRCm39) |
T255M |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,083,808 (GRCm39) |
V18A |
probably benign |
Het |
| Ppp1r17 |
A |
T |
6: 56,003,529 (GRCm39) |
E114V |
probably damaging |
Het |
| Scamp5 |
A |
T |
9: 57,352,716 (GRCm39) |
M151K |
possibly damaging |
Het |
| Sestd1 |
T |
C |
2: 77,048,512 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Slc22a21 |
T |
G |
11: 53,842,175 (GRCm39) |
K534N |
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,112,917 (GRCm39) |
E448G |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,996,566 (GRCm39) |
L280P |
probably damaging |
Het |
| Sppl2b |
C |
A |
10: 80,701,879 (GRCm39) |
|
probably null |
Het |
| Srd5a2 |
T |
C |
17: 74,334,014 (GRCm39) |
E135G |
possibly damaging |
Het |
| Tfg |
A |
T |
16: 56,521,467 (GRCm39) |
M183K |
probably damaging |
Het |
| Ticrr |
G |
A |
7: 79,328,881 (GRCm39) |
M673I |
probably benign |
Het |
| Tm4sf20 |
T |
G |
1: 82,745,958 (GRCm39) |
M61L |
probably benign |
Het |
| Ttll8 |
A |
T |
15: 88,823,209 (GRCm39) |
S85T |
possibly damaging |
Het |
| Uggt2 |
G |
A |
14: 119,280,138 (GRCm39) |
S780F |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,324,302 (GRCm39) |
L442P |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
| Znrf3 |
A |
G |
11: 5,239,006 (GRCm39) |
|
probably benign |
Het |
| Zswim2 |
C |
A |
2: 83,755,527 (GRCm39) |
D125Y |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCAAGTCAAATGGTGAGG -3'
(R):5'- GACCTCCTAACACTCTCTGCAG -3'
Sequencing Primer
(F):5'- TCAAATGGTGAGGGCAGGAGC -3'
(R):5'- TGCAGGGTATACTTCAGCATACC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation