Incidental Mutation 'R5311:Mybpc3'
| ID |
404831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc3
|
| Ensembl Gene |
ENSMUSG00000002100 |
| Gene Name |
myosin binding protein C, cardiac |
| Synonyms |
cardiac C-protein |
| MMRRC Submission |
042894-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R5311 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 90959023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 655
(C655*)
|
| 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 null
Transcript: ENSMUST00000111430
AA Change: C654*
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: C654*
| 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 null
Transcript: ENSMUST00000137942
AA Change: C490*
|
| SMART Domains |
Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: C490*
| 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 null
Transcript: ENSMUST00000169776
AA Change: C655*
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: C655*
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
A |
G |
5: 142,453,442 (GRCm39) |
K137E |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,429,923 (GRCm39) |
V371G |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,068,987 (GRCm39) |
Y247H |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,917,556 (GRCm39) |
V927A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Edar |
G |
A |
10: 58,443,257 (GRCm39) |
P290S |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,526,606 (GRCm39) |
I677V |
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,765,080 (GRCm39) |
S209P |
probably damaging |
Het |
| Fshr |
A |
T |
17: 89,318,441 (GRCm39) |
|
probably null |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gm14295 |
A |
T |
2: 176,502,465 (GRCm39) |
I652L |
probably benign |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
T |
A |
11: 48,779,716 (GRCm39) |
E402V |
probably damaging |
Het |
| Gm6899 |
GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC |
GGAGGCCGCCCAGTGGCAGAGGC |
11: 26,543,725 (GRCm39) |
|
probably null |
Het |
| Itih2 |
T |
C |
2: 10,115,346 (GRCm39) |
D342G |
probably benign |
Het |
| Lgi2 |
A |
T |
5: 52,711,827 (GRCm39) |
D164E |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,448 (GRCm39) |
I768T |
probably damaging |
Het |
| Map1a |
C |
A |
2: 121,132,868 (GRCm39) |
A990E |
probably damaging |
Het |
| Mdh1b |
A |
G |
1: 63,759,163 (GRCm39) |
V143A |
probably benign |
Het |
| Mrgprb3 |
C |
T |
7: 48,293,059 (GRCm39) |
C164Y |
probably damaging |
Het |
| Mtpap |
T |
A |
18: 4,386,328 (GRCm39) |
V316E |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,986,204 (GRCm39) |
E1558G |
possibly damaging |
Het |
| Mylk |
A |
G |
16: 34,742,127 (GRCm39) |
T880A |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,370,466 (GRCm39) |
D408V |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,582,343 (GRCm39) |
H605L |
probably benign |
Het |
| Nrxn2 |
C |
A |
19: 6,581,428 (GRCm39) |
D411E |
probably benign |
Het |
| Or1af1 |
T |
C |
2: 37,109,633 (GRCm39) |
V44A |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,094 (GRCm39) |
I221L |
possibly damaging |
Het |
| Pde4d |
C |
A |
13: 109,769,398 (GRCm39) |
P29T |
probably benign |
Het |
| Pde4d |
C |
T |
13: 109,769,399 (GRCm39) |
P29L |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,636,094 (GRCm39) |
V412A |
possibly damaging |
Het |
| Rev1 |
T |
A |
1: 38,118,474 (GRCm39) |
I480L |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,028,708 (GRCm39) |
T711A |
probably benign |
Het |
| RP23-191E1.1 |
T |
A |
3: 106,204,784 (GRCm39) |
|
noncoding transcript |
Het |
| Serpina11 |
A |
T |
12: 103,952,221 (GRCm39) |
I183N |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,921,236 (GRCm39) |
H645R |
probably damaging |
Het |
| Skint7 |
G |
A |
4: 111,837,501 (GRCm39) |
R93H |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,910 (GRCm39) |
E632G |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Trps1 |
G |
A |
15: 50,528,156 (GRCm39) |
T658I |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,438,691 (GRCm39) |
T287A |
probably damaging |
Het |
| Ugt2b35 |
G |
A |
5: 87,159,139 (GRCm39) |
W444* |
probably null |
Het |
| Vmn1r219 |
T |
A |
13: 23,347,063 (GRCm39) |
V84D |
probably damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,154,121 (GRCm39) |
Y61C |
probably damaging |
Het |
| Vmn2r104 |
G |
A |
17: 20,250,163 (GRCm39) |
P703S |
probably damaging |
Het |
| Wdsub1 |
T |
A |
2: 59,708,873 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,308,715 (GRCm39) |
Q461R |
probably benign |
Het |
| Zfp941 |
C |
A |
7: 140,391,872 (GRCm39) |
G496* |
probably null |
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 |
|
|
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'- GAAAATCCTGCAGAACTATCTATGC -3'
(R):5'- AGCAAAGCTTCACCCTCATTTG -3'
Sequencing Primer
(F):5'- TCCTGCAGAACTATCTATGCTAAAAC -3'
(R):5'- TGCCCCACCCACCCATTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation