Incidental Mutation 'R1388:Mybpc3'
| ID |
162478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc3
|
| Ensembl Gene |
ENSMUSG00000002100 |
| Gene Name |
myosin binding protein C, cardiac |
| Synonyms |
cardiac C-protein |
| MMRRC Submission |
039450-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R1388 (G1)
|
| Quality Score |
101 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90953219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 155
(P155S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119994
(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: P319S
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: P319S
| 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: P155S
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: P155S
| 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: P320S
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: P320S
| 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 |
|
| Meta Mutation Damage Score |
0.1796 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
T |
G |
12: 84,105,761 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,453,919 (GRCm39) |
V152A |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Ccdc174 |
C |
A |
6: 91,858,225 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,417,702 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,415 (GRCm39) |
V550D |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,611,268 (GRCm39) |
|
probably benign |
Het |
| Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
| Gm2959 |
A |
T |
14: 42,235,660 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
A |
G |
16: 26,782,662 (GRCm39) |
L80P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,424,564 (GRCm39) |
D394G |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,328 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,501 (GRCm39) |
S70G |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,118,683 (GRCm39) |
S293G |
probably null |
Het |
| Klra4 |
T |
C |
6: 130,039,198 (GRCm39) |
|
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,356 (GRCm39) |
T109K |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,008,249 (GRCm39) |
E242G |
probably damaging |
Het |
| Mrnip |
C |
A |
11: 50,087,772 (GRCm39) |
A98E |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,546 (GRCm39) |
Y126N |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,948 (GRCm39) |
S192P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,445 (GRCm39) |
V174A |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,041 (GRCm39) |
M243T |
possibly damaging |
Het |
| Ptprr |
A |
G |
10: 116,109,657 (GRCm39) |
S633G |
probably benign |
Het |
| Rasip1 |
T |
A |
7: 45,279,656 (GRCm39) |
S300T |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,576 (GRCm39) |
H197L |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sim1 |
T |
A |
10: 50,772,090 (GRCm39) |
I33N |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,104 (GRCm39) |
D2878G |
probably damaging |
Het |
| Taf2 |
T |
A |
15: 54,900,021 (GRCm39) |
N864I |
probably benign |
Het |
| Tmem43 |
G |
T |
6: 91,455,785 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,542,135 (GRCm39) |
E25290G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,255,515 (GRCm39) |
|
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,751,277 (GRCm39) |
E260G |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,840 (GRCm39) |
Y91S |
possibly damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,133 (GRCm39) |
N426K |
probably benign |
Het |
| Whamm |
C |
A |
7: 81,236,038 (GRCm39) |
L414I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,447 (GRCm39) |
T2227A |
probably damaging |
Het |
| Zfp866 |
C |
T |
8: 70,218,834 (GRCm39) |
R262Q |
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 |
|
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 |
|
|
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'- AGCCAAGAGTCCTCCCTAGTTCAAC -3'
(R):5'- GTGCAGAAGCCCTCAAATACTCAGG -3'
Sequencing Primer
(F):5'- TAGTTCAACACCCAAGACTCTTAG -3'
(R):5'- tctctgtgtctctgtctcctc -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation