Incidental Mutation 'R8290:Mybpc3'
| ID |
638618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc3
|
| Ensembl Gene |
ENSMUSG00000002100 |
| Gene Name |
myosin binding protein C, cardiac |
| Synonyms |
cardiac C-protein |
| MMRRC Submission |
067712-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R8290 (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 90951473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 259
(N259S)
|
| 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: N259S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: N259S
| 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: N95S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: N95S
| 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: N259S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: N259S
| 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: 99.6%
- 20x: 98.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,238,911 (GRCm39) |
Y1100N |
probably damaging |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,630,002 (GRCm39) |
T3576A |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,185,948 (GRCm39) |
N8K |
probably damaging |
Het |
| Aftph |
A |
T |
11: 20,675,712 (GRCm39) |
H632Q |
probably benign |
Het |
| Arhgef11 |
A |
T |
3: 87,633,275 (GRCm39) |
I710F |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,338,153 (GRCm39) |
N341S |
possibly damaging |
Het |
| Ccsap |
T |
G |
8: 124,585,986 (GRCm39) |
D55A |
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,817,037 (GRCm39) |
N816S |
probably benign |
Het |
| Celf3 |
A |
G |
3: 94,386,489 (GRCm39) |
I26V |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chek2 |
A |
G |
5: 111,008,766 (GRCm39) |
E299G |
possibly damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,793,719 (GRCm39) |
V312A |
possibly damaging |
Het |
| Cnn1 |
A |
G |
9: 22,012,447 (GRCm39) |
K25R |
probably benign |
Het |
| Cry1 |
A |
T |
10: 84,978,977 (GRCm39) |
Y516* |
probably null |
Het |
| Dcaf4 |
T |
C |
12: 83,588,333 (GRCm39) |
S498P |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,843,244 (GRCm39) |
V360A |
probably benign |
Het |
| Dnajc18 |
G |
A |
18: 35,816,324 (GRCm39) |
R205* |
probably null |
Het |
| Eif4a2 |
G |
T |
16: 22,927,372 (GRCm39) |
G22C |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,150,923 (GRCm39) |
I196T |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,472,859 (GRCm39) |
I342T |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etf1 |
G |
A |
18: 35,064,891 (GRCm39) |
P35L |
unknown |
Het |
| Etnk2 |
A |
C |
1: 133,307,127 (GRCm39) |
*386C |
probably null |
Het |
| Fgg |
A |
T |
3: 82,920,141 (GRCm39) |
I307F |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,110,069 (GRCm39) |
Q699R |
unknown |
Het |
| Foxp4 |
T |
A |
17: 48,191,778 (GRCm39) |
T120S |
unknown |
Het |
| Fzd1 |
A |
G |
5: 4,807,060 (GRCm39) |
V174A |
possibly damaging |
Het |
| Gad1 |
A |
C |
2: 70,404,610 (GRCm39) |
I167L |
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,282,171 (GRCm39) |
D55E |
probably benign |
Het |
| Grb14 |
G |
T |
2: 64,805,929 (GRCm39) |
A12E |
probably benign |
Het |
| Hnmt |
A |
C |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
| Kit |
A |
G |
5: 75,801,829 (GRCm39) |
I615V |
probably benign |
Het |
| Kpna6 |
A |
G |
4: 129,555,097 (GRCm39) |
|
probably null |
Het |
| Lpxn |
C |
T |
19: 12,810,052 (GRCm39) |
R275C |
probably damaging |
Het |
| Magi1 |
C |
T |
6: 94,260,066 (GRCm39) |
G80S |
probably damaging |
Het |
| Men1 |
A |
G |
19: 6,388,316 (GRCm39) |
I312V |
probably benign |
Het |
| Msx2 |
A |
G |
13: 53,622,528 (GRCm39) |
F161L |
probably damaging |
Het |
| Mtr |
T |
C |
13: 12,205,139 (GRCm39) |
D1107G |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,575,434 (GRCm39) |
M1397L |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,196,178 (GRCm39) |
K1242R |
probably benign |
Het |
| Myoc |
T |
C |
1: 162,476,601 (GRCm39) |
V435A |
possibly damaging |
Het |
| Nbea |
G |
A |
3: 55,966,056 (GRCm39) |
Q469* |
probably null |
Het |
| Ndufa10 |
A |
C |
1: 92,390,869 (GRCm39) |
M227R |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,953,536 (GRCm39) |
D3831N |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,015,400 (GRCm39) |
E1024G |
probably damaging |
Het |
| Oma1 |
T |
C |
4: 103,176,671 (GRCm39) |
L145P |
probably damaging |
Het |
| Phf11 |
T |
C |
14: 59,485,418 (GRCm39) |
Y114C |
probably damaging |
Het |
| Phf12 |
C |
A |
11: 77,920,465 (GRCm39) |
N1000K |
probably benign |
Het |
| Plxnb1 |
G |
T |
9: 108,938,687 (GRCm39) |
A1350S |
probably benign |
Het |
| Prkd1 |
C |
T |
12: 50,388,799 (GRCm39) |
V915I |
probably damaging |
Het |
| Prkra |
T |
A |
2: 76,463,982 (GRCm39) |
N227Y |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,798,077 (GRCm39) |
H681L |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,193 (GRCm39) |
K251R |
probably benign |
Het |
| Sema6b |
A |
T |
17: 56,431,803 (GRCm39) |
V620E |
possibly damaging |
Het |
| Senp7 |
T |
A |
16: 55,974,000 (GRCm39) |
L407* |
probably null |
Het |
| Sh3pxd2a |
A |
T |
19: 47,302,575 (GRCm39) |
L168Q |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 58,988,326 (GRCm39) |
L453P |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,733,230 (GRCm39) |
R43H |
probably benign |
Het |
| Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
| Taf2 |
A |
G |
15: 54,926,416 (GRCm39) |
F178S |
probably damaging |
Het |
| Tcp10a |
G |
A |
17: 7,601,716 (GRCm39) |
E239K |
probably benign |
Het |
| Ubox5 |
A |
G |
2: 130,442,333 (GRCm39) |
V118A |
probably damaging |
Het |
| Unc13d |
C |
A |
11: 115,958,973 (GRCm39) |
L729F |
probably damaging |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,724 (GRCm39) |
T265A |
probably benign |
Het |
| Vmn2r100 |
G |
A |
17: 19,751,612 (GRCm39) |
V615I |
probably damaging |
Het |
| Vmn2r60 |
T |
G |
7: 41,791,690 (GRCm39) |
C538G |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,524,291 (GRCm39) |
N95I |
probably damaging |
Het |
| Vsig2 |
A |
G |
9: 37,451,264 (GRCm39) |
N55S |
probably benign |
Het |
| Zfp472 |
A |
G |
17: 33,197,088 (GRCm39) |
T388A |
probably benign |
Het |
| Zfp853 |
G |
A |
5: 143,274,826 (GRCm39) |
Q214* |
probably null |
Het |
| Zfp949 |
A |
G |
9: 88,451,293 (GRCm39) |
R288G |
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 |
|
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 |
|
|
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'- AAGCGCTCTGTATGTGTCAG -3'
(R):5'- TCCCACGATTCTCCTGAAAGC -3'
Sequencing Primer
(F):5'- TCAGCCCTGAGAAGTGAGCTTG -3'
(R):5'- TCCTGAAAGCATGCATTTCG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation