Incidental Mutation 'R8486:Mybpc3'
| ID |
657722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc3
|
| Ensembl Gene |
ENSMUSG00000002100 |
| Gene Name |
myosin binding protein C, cardiac |
| Synonyms |
cardiac C-protein |
| MMRRC Submission |
067929-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R8486 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90959117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 687
(W687R)
|
| 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 damaging
Transcript: ENSMUST00000111430
AA Change: W686R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: W686R
| 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 damaging
Transcript: ENSMUST00000137942
AA Change: W522R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: W522R
| 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 damaging
Transcript: ENSMUST00000169776
AA Change: W687R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: W687R
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,225,092 (GRCm39) |
S524G |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,857,937 (GRCm39) |
I546N |
possibly damaging |
Het |
| Abcd4 |
C |
T |
12: 84,650,752 (GRCm39) |
R532H |
probably damaging |
Het |
| Acsf2 |
A |
T |
11: 94,460,786 (GRCm39) |
D373E |
probably damaging |
Het |
| Acsm1 |
A |
G |
7: 119,259,880 (GRCm39) |
T510A |
probably damaging |
Het |
| Adam21 |
C |
T |
12: 81,607,550 (GRCm39) |
V71I |
probably benign |
Het |
| Adgra3 |
T |
C |
5: 50,147,621 (GRCm39) |
D473G |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,631,499 (GRCm39) |
V286I |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,344,642 (GRCm39) |
E141G |
probably null |
Het |
| Arhgap21 |
T |
C |
2: 20,865,236 (GRCm39) |
D952G |
probably damaging |
Het |
| Asb4 |
A |
T |
6: 5,390,653 (GRCm39) |
K15N |
possibly damaging |
Het |
| Cert1 |
T |
C |
13: 96,770,690 (GRCm39) |
V533A |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,752,770 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
C |
17: 72,170,839 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
T |
C |
7: 25,614,306 (GRCm39) |
V260A |
probably benign |
Het |
| Dnm1 |
C |
T |
2: 32,224,739 (GRCm39) |
M430I |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,242,561 (GRCm39) |
D464G |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,321,883 (GRCm39) |
|
probably benign |
Het |
| Ephb1 |
A |
C |
9: 101,841,164 (GRCm39) |
D730E |
probably benign |
Het |
| Fancf |
A |
G |
7: 51,511,632 (GRCm39) |
V124A |
probably benign |
Het |
| Fgfr2 |
G |
A |
7: 129,765,745 (GRCm39) |
P692S |
possibly damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,230,521 (GRCm39) |
R731* |
probably null |
Het |
| Fos |
T |
C |
12: 85,522,805 (GRCm39) |
F239S |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,548,092 (GRCm39) |
Y107H |
probably damaging |
Het |
| Gm3159 |
A |
C |
14: 4,400,520 (GRCm38) |
N193T |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,871,124 (GRCm39) |
D2771V |
probably damaging |
Het |
| Ighv1-18 |
T |
A |
12: 114,646,325 (GRCm39) |
K92M |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,136,091 (GRCm39) |
Y696C |
probably damaging |
Het |
| Klf15 |
T |
A |
6: 90,444,160 (GRCm39) |
V245D |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,625,911 (GRCm39) |
A702V |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,034,637 (GRCm39) |
M122T |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,618,702 (GRCm39) |
L124P |
probably damaging |
Het |
| Mcrs1 |
G |
T |
15: 99,146,349 (GRCm39) |
Y85* |
probably null |
Het |
| Mgst1 |
A |
T |
6: 138,120,026 (GRCm39) |
I29L |
probably benign |
Het |
| Miga1 |
C |
T |
3: 151,982,390 (GRCm39) |
R562H |
probably damaging |
Het |
| Myh11 |
G |
T |
16: 14,022,532 (GRCm39) |
A1682D |
possibly damaging |
Het |
| Nes |
T |
C |
3: 87,887,320 (GRCm39) |
S1816P |
probably damaging |
Het |
| Or52p1 |
T |
C |
7: 104,267,069 (GRCm39) |
V69A |
possibly damaging |
Het |
| Or5c1 |
T |
G |
2: 37,222,662 (GRCm39) |
V301G |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,410,812 (GRCm39) |
F2773C |
probably damaging |
Het |
| Pkp1 |
C |
G |
1: 135,846,714 (GRCm39) |
E13Q |
probably damaging |
Het |
| Ppp2r2b |
T |
C |
18: 43,031,869 (GRCm39) |
D4G |
probably benign |
Het |
| Ppp6r3 |
G |
A |
19: 3,537,072 (GRCm39) |
H455Y |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,106,657 (GRCm39) |
R202G |
probably benign |
Het |
| Sgcz |
T |
G |
8: 38,190,207 (GRCm39) |
K106N |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,247,304 (GRCm39) |
Y572C |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,088,881 (GRCm39) |
Q5080* |
probably null |
Het |
| Tpst2 |
C |
T |
5: 112,456,171 (GRCm39) |
Q5* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,561,877 (GRCm39) |
T28908S |
possibly damaging |
Het |
| Vmn1r120 |
C |
T |
7: 20,787,027 (GRCm39) |
R228H |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,186,370 (GRCm39) |
N105S |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,979,829 (GRCm39) |
T195A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,974,909 (GRCm39) |
S484T |
probably benign |
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 |
|
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 |
|
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'- ACCATCAGGGACATGAGCTC -3'
(R):5'- CCCCTAGGAACAAAATGGACTG -3'
Sequencing Primer
(F):5'- AGGGACATGAGCTCCCAGC -3'
(R):5'- GAGTCAGCGTTCCTTCCCG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation