Incidental Mutation 'R5832:Mybpc3'
| ID |
449343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc3
|
| Ensembl Gene |
ENSMUSG00000002100 |
| Gene Name |
myosin binding protein C, cardiac |
| Synonyms |
cardiac C-protein |
| MMRRC Submission |
044054-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R5832 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 90949520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119994
(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: N21S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: N21S
| 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
|
| 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: N21S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: N21S
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,251,421 (GRCm39) |
S6232F |
possibly damaging |
Het |
| Alox12 |
T |
C |
11: 70,144,106 (GRCm39) |
E129G |
probably damaging |
Het |
| Anxa13 |
C |
A |
15: 58,205,389 (GRCm39) |
|
noncoding transcript |
Het |
| Arfgef3 |
C |
T |
10: 18,506,168 (GRCm39) |
G878D |
probably damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,386,634 (GRCm39) |
D331G |
probably damaging |
Het |
| Crisp1 |
A |
G |
17: 40,612,208 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,842,447 (GRCm39) |
N217S |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,470,460 (GRCm39) |
Y1463F |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,223,752 (GRCm39) |
W1033R |
probably damaging |
Het |
| Galr2 |
T |
A |
11: 116,172,457 (GRCm39) |
L49Q |
probably damaging |
Het |
| Gstm5 |
T |
C |
3: 107,804,853 (GRCm39) |
V115A |
probably benign |
Het |
| Gtpbp2 |
C |
T |
17: 46,478,788 (GRCm39) |
T535I |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,128,144 (GRCm39) |
E326G |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,902,533 (GRCm39) |
V388A |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kitl |
C |
A |
10: 99,915,882 (GRCm39) |
P137H |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,520,070 (GRCm39) |
Y38N |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,121,649 (GRCm39) |
N5I |
probably damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,350 (GRCm39) |
C191S |
probably benign |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Nav2 |
A |
T |
7: 49,197,817 (GRCm39) |
|
probably null |
Het |
| Patz1 |
C |
T |
11: 3,256,277 (GRCm39) |
P521L |
probably benign |
Het |
| Pramel14 |
A |
G |
4: 143,718,532 (GRCm39) |
S304P |
probably damaging |
Het |
| Prkcd |
T |
C |
14: 30,327,778 (GRCm39) |
T103A |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,419,859 (GRCm39) |
|
probably null |
Het |
| Rcbtb2 |
C |
A |
14: 73,404,262 (GRCm39) |
Q85K |
possibly damaging |
Het |
| Rdh16f1 |
T |
A |
10: 127,624,618 (GRCm39) |
V152E |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,498 (GRCm39) |
I470V |
probably benign |
Het |
| Sarnp |
T |
C |
10: 128,684,181 (GRCm39) |
|
probably null |
Het |
| Slc39a6 |
C |
A |
18: 24,734,669 (GRCm39) |
V7L |
possibly damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,765,270 (GRCm39) |
I324T |
probably benign |
Het |
| Spata31d1a |
A |
T |
13: 59,849,380 (GRCm39) |
V916E |
probably damaging |
Het |
| Srgap1 |
T |
G |
10: 121,676,819 (GRCm39) |
T392P |
probably damaging |
Het |
| Tbc1d20 |
A |
T |
2: 152,153,282 (GRCm39) |
M271L |
possibly damaging |
Het |
| Tbc1d22b |
T |
C |
17: 29,789,621 (GRCm39) |
I161T |
possibly damaging |
Het |
| Tcof1 |
G |
T |
18: 60,952,611 (GRCm39) |
N918K |
unknown |
Het |
| Tnr |
A |
G |
1: 159,713,692 (GRCm39) |
T707A |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,054,409 (GRCm39) |
F1267S |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,764,183 (GRCm39) |
H263R |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,725,965 (GRCm39) |
V187D |
possibly damaging |
Het |
| Ube2f |
T |
G |
1: 91,213,046 (GRCm39) |
V176G |
possibly damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,761,318 (GRCm39) |
A680T |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,670 (GRCm39) |
C665* |
probably null |
Het |
| Zfp954 |
A |
G |
7: 7,118,389 (GRCm39) |
V385A |
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 |
|
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'- TCATTAACCTCACCTGACCTGAG -3'
(R):5'- TTGAGGAGCCTGCAATGACC -3'
Sequencing Primer
(F):5'- TCACCTGACCTGAGACATAAATATGG -3'
(R):5'- GTAGGAACCCTGGTCATCAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation