Incidental Mutation 'R9581:Mybpc3'
| ID |
722523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc3
|
| Ensembl Gene |
ENSMUSG00000002100 |
| Gene Name |
myosin binding protein C, cardiac |
| Synonyms |
cardiac C-protein |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R9581 (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 G
at 90949616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 53
(D53G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002180]
[ENSMUST00000111430]
[ENSMUST00000137942]
[ENSMUST00000169776]
[ENSMUST00000169852]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002180
|
| SMART Domains |
Protein: ENSMUSP00000002180
Gene: ENSMUSG00000002111
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
167 |
N/A |
INTRINSIC |
|
ETS
|
171 |
259 |
9.71e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111430
AA Change: D53G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: D53G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
| 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: D53G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: D53G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169852
|
| SMART Domains |
Protein: ENSMUSP00000130368
Gene: ENSMUSG00000002111
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
133 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
G |
5: 8,790,428 (GRCm39) |
I1097R |
possibly damaging |
Het |
| Abcd4 |
A |
G |
12: 84,650,762 (GRCm39) |
S533P |
probably damaging |
Het |
| Adat1 |
C |
T |
8: 112,705,946 (GRCm39) |
V387I |
probably benign |
Het |
| Aff3 |
T |
A |
1: 38,249,266 (GRCm39) |
T614S |
probably benign |
Het |
| Aldh1a1 |
T |
A |
19: 20,597,417 (GRCm39) |
C133S |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,290,415 (GRCm39) |
S1673P |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,370,055 (GRCm39) |
|
probably null |
Het |
| Arsi |
A |
G |
18: 61,050,160 (GRCm39) |
T348A |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,799,300 (GRCm39) |
R275G |
probably benign |
Het |
| Cdh2 |
T |
A |
18: 16,803,112 (GRCm39) |
|
probably benign |
Het |
| Cela1 |
C |
T |
15: 100,573,261 (GRCm39) |
A243T |
probably benign |
Het |
| Cep192 |
G |
T |
18: 67,980,465 (GRCm39) |
V1409F |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,879 (GRCm39) |
Y240H |
possibly damaging |
Het |
| Dact1 |
A |
T |
12: 71,365,619 (GRCm39) |
K763M |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,079,255 (GRCm39) |
N822K |
probably damaging |
Het |
| Dnah12 |
C |
T |
14: 26,491,985 (GRCm39) |
T1140I |
probably damaging |
Het |
| Drc7 |
T |
C |
8: 95,785,782 (GRCm39) |
S213P |
probably damaging |
Het |
| Ell2 |
A |
G |
13: 75,912,148 (GRCm39) |
D478G |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,120,660 (GRCm39) |
T483M |
probably benign |
Het |
| Farp1 |
A |
T |
14: 121,480,841 (GRCm39) |
E414V |
probably benign |
Het |
| Fbxl17 |
A |
G |
17: 63,806,525 (GRCm39) |
V163A |
probably benign |
Het |
| Foxn3 |
C |
T |
12: 99,163,035 (GRCm39) |
E289K |
probably damaging |
Het |
| Fscb |
T |
A |
12: 64,521,122 (GRCm39) |
I115F |
probably benign |
Het |
| Gm14496 |
A |
T |
2: 181,642,047 (GRCm39) |
T573S |
probably benign |
Het |
| Golga1 |
G |
T |
2: 38,909,573 (GRCm39) |
D677E |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,635,101 (GRCm39) |
K772N |
probably damaging |
Het |
| Ikbkb |
T |
C |
8: 23,155,575 (GRCm39) |
D639G |
probably damaging |
Het |
| Lrrc61 |
G |
A |
6: 48,545,653 (GRCm39) |
V159I |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mib1 |
A |
G |
18: 10,775,701 (GRCm39) |
D551G |
possibly damaging |
Het |
| Muc5ac |
G |
T |
7: 141,363,799 (GRCm39) |
R2370L |
unknown |
Het |
| Myo9b |
C |
T |
8: 71,812,543 (GRCm39) |
P2105S |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,351,194 (GRCm39) |
H1271Q |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nmt2 |
T |
C |
2: 3,317,212 (GRCm39) |
V340A |
possibly damaging |
Het |
| Nos1 |
A |
G |
5: 118,043,459 (GRCm39) |
E578G |
probably damaging |
Het |
| Nox3 |
G |
A |
17: 3,700,328 (GRCm39) |
R462W |
possibly damaging |
Het |
| Or10h28 |
C |
A |
17: 33,487,995 (GRCm39) |
A99D |
probably damaging |
Het |
| Or52a20 |
A |
G |
7: 103,365,788 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc4 |
A |
G |
18: 37,950,189 (GRCm39) |
Q535R |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,432,196 (GRCm39) |
D1473G |
probably benign |
Het |
| Pdilt |
A |
T |
7: 119,099,633 (GRCm39) |
F212I |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,450,789 (GRCm39) |
V59D |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,092,257 (GRCm39) |
D571G |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,547,771 (GRCm39) |
V209E |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Schip1 |
TCTGGCC |
TC |
3: 68,525,060 (GRCm39) |
|
probably null |
Het |
| Sec16a |
C |
T |
2: 26,328,647 (GRCm39) |
V142I |
|
Het |
| Slamf6 |
A |
G |
1: 171,761,897 (GRCm39) |
Y106C |
|
Het |
| Strc |
A |
G |
2: 121,207,928 (GRCm39) |
V481A |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,875,478 (GRCm39) |
I163F |
possibly damaging |
Het |
| Tjp1 |
A |
G |
7: 64,949,472 (GRCm39) |
S1637P |
probably damaging |
Het |
| Tlr9 |
A |
G |
9: 106,101,510 (GRCm39) |
E267G |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,268 (GRCm39) |
F309L |
probably benign |
Het |
| Tmtc4 |
T |
C |
14: 123,187,998 (GRCm39) |
N196S |
probably benign |
Het |
| Trim16 |
T |
A |
11: 62,727,557 (GRCm39) |
I293K |
probably damaging |
Het |
| Trim7 |
T |
C |
11: 48,738,887 (GRCm39) |
V95A |
probably damaging |
Het |
| Ttll6 |
A |
T |
11: 96,049,572 (GRCm39) |
K763N |
probably benign |
Het |
| Tut1 |
T |
C |
19: 8,941,981 (GRCm39) |
S483P |
probably benign |
Het |
| Zfp101 |
A |
T |
17: 33,605,730 (GRCm39) |
L26* |
probably null |
Het |
| Zfp106 |
C |
T |
2: 120,365,807 (GRCm39) |
R155K |
|
Het |
| Zfp518a |
T |
A |
19: 40,900,156 (GRCm39) |
D28E |
probably damaging |
Het |
| Zfp90 |
T |
A |
8: 107,151,714 (GRCm39) |
S476T |
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 |
|
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 |
|
|
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'- TGGAGCATTAAACAAGTAGCTTGG -3'
(R):5'- AGGTCAGCAAGCTCTTACCTG -3'
Sequencing Primer
(F):5'- GGGTGTGCTTACTACACAGTC -3'
(R):5'- ACCTGGCTCTGTGACCTTGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation