Incidental Mutation 'R4909:Mybpc3'
ID |
379260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mybpc3
|
Ensembl Gene |
ENSMUSG00000002100 |
Gene Name |
myosin binding protein C, cardiac |
Synonyms |
cardiac C-protein |
MMRRC Submission |
042511-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.602)
|
Stock # |
R4909 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 90965157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1075
(D1075E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127070
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066473]
[ENSMUST00000075269]
[ENSMUST00000077941]
[ENSMUST00000099723]
[ENSMUST00000099725]
[ENSMUST00000111369]
[ENSMUST00000137942]
[ENSMUST00000111430]
[ENSMUST00000111381]
[ENSMUST00000111375]
[ENSMUST00000111371]
[ENSMUST00000111376]
[ENSMUST00000111370]
[ENSMUST00000111372]
[ENSMUST00000111373]
[ENSMUST00000169776]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066473
|
SMART Domains |
Protein: ENSMUSP00000069350 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
low complexity region
|
1334 |
1348 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075269
|
SMART Domains |
Protein: ENSMUSP00000074746 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
719 |
N/A |
INTRINSIC |
low complexity region
|
762 |
770 |
N/A |
INTRINSIC |
low complexity region
|
797 |
820 |
N/A |
INTRINSIC |
low complexity region
|
889 |
899 |
N/A |
INTRINSIC |
low complexity region
|
1276 |
1290 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077941
|
SMART Domains |
Protein: ENSMUSP00000077094 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
low complexity region
|
928 |
938 |
N/A |
INTRINSIC |
low complexity region
|
1354 |
1368 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099723
|
SMART Domains |
Protein: ENSMUSP00000097311 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
low complexity region
|
928 |
938 |
N/A |
INTRINSIC |
low complexity region
|
1189 |
1203 |
N/A |
INTRINSIC |
low complexity region
|
1353 |
1367 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099725
|
SMART Domains |
Protein: ENSMUSP00000097313 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
low complexity region
|
1334 |
1348 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111369
|
SMART Domains |
Protein: ENSMUSP00000107000 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
721 |
N/A |
INTRINSIC |
low complexity region
|
773 |
796 |
N/A |
INTRINSIC |
low complexity region
|
865 |
875 |
N/A |
INTRINSIC |
low complexity region
|
1108 |
1122 |
N/A |
INTRINSIC |
low complexity region
|
1251 |
1265 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137942
AA Change: D910E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119994 Gene: ENSMUSG00000002100 AA Change: D910E
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: ENSMUST00000111430
AA Change: D1074E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107058 Gene: ENSMUSG00000002100 AA Change: D1074E
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 |
noncoding transcript
Transcript: ENSMUST00000150461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125227
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125321
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111381
|
SMART Domains |
Protein: ENSMUSP00000107012 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
low complexity region
|
928 |
938 |
N/A |
INTRINSIC |
low complexity region
|
1315 |
1329 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111375
|
SMART Domains |
Protein: ENSMUSP00000107006 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
721 |
N/A |
INTRINSIC |
low complexity region
|
773 |
796 |
N/A |
INTRINSIC |
low complexity region
|
885 |
895 |
N/A |
INTRINSIC |
low complexity region
|
1272 |
1286 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111371
|
SMART Domains |
Protein: ENSMUSP00000107002 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
719 |
N/A |
INTRINSIC |
low complexity region
|
762 |
770 |
N/A |
INTRINSIC |
low complexity region
|
797 |
820 |
N/A |
INTRINSIC |
low complexity region
|
909 |
919 |
N/A |
INTRINSIC |
low complexity region
|
1296 |
1310 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111376
|
SMART Domains |
Protein: ENSMUSP00000107007 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
721 |
N/A |
INTRINSIC |
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
low complexity region
|
1151 |
1162 |
N/A |
INTRINSIC |
low complexity region
|
1312 |
1326 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111370
|
SMART Domains |
Protein: ENSMUSP00000107001 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
low complexity region
|
1334 |
1348 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111372
|
SMART Domains |
Protein: ENSMUSP00000107003 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
2.19e-67 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
low complexity region
|
1295 |
1309 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111373
|
SMART Domains |
Protein: ENSMUSP00000107004 Gene: ENSMUSG00000040687
Domain | Start | End | E-Value | Type |
uDENN
|
7 |
97 |
2.9e-29 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
DENN
|
171 |
401 |
8.7e-71 |
SMART |
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
dDENN
|
484 |
554 |
2.8e-16 |
SMART |
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
low complexity region
|
699 |
721 |
N/A |
INTRINSIC |
low complexity region
|
773 |
796 |
N/A |
INTRINSIC |
low complexity region
|
865 |
875 |
N/A |
INTRINSIC |
low complexity region
|
1108 |
1122 |
N/A |
INTRINSIC |
low complexity region
|
1251 |
1265 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169776
AA Change: D1075E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127070 Gene: ENSMUSG00000002100 AA Change: D1075E
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 |
noncoding transcript
Transcript: ENSMUST00000156368
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154028
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153688
|
Meta Mutation Damage Score |
0.0608 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
Validation Efficiency |
97% (101/104) |
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: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030C10Rik |
A |
T |
12: 20,865,089 (GRCm39) |
|
noncoding transcript |
Het |
Aars1 |
G |
A |
8: 111,781,715 (GRCm39) |
G929D |
probably damaging |
Het |
Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
Actn4 |
A |
T |
7: 28,598,082 (GRCm39) |
L506Q |
probably damaging |
Het |
Adam26a |
A |
T |
8: 44,023,475 (GRCm39) |
F5Y |
probably benign |
Het |
Adamts5 |
G |
A |
16: 85,696,954 (GRCm39) |
Q68* |
probably null |
Het |
Adcy9 |
A |
G |
16: 4,116,618 (GRCm39) |
I871T |
probably benign |
Het |
Ak5 |
A |
T |
3: 152,361,514 (GRCm39) |
L136H |
probably damaging |
Het |
Ap1g2 |
A |
G |
14: 55,342,483 (GRCm39) |
|
probably null |
Het |
Ap2a1 |
G |
A |
7: 44,555,805 (GRCm39) |
T355M |
probably damaging |
Het |
Ap3s2 |
T |
C |
7: 79,564,989 (GRCm39) |
D60G |
possibly damaging |
Het |
Apold1 |
G |
A |
6: 134,960,558 (GRCm39) |
R4Q |
probably benign |
Het |
Atp13a5 |
G |
T |
16: 29,152,846 (GRCm39) |
Q207K |
possibly damaging |
Het |
BC035947 |
A |
C |
1: 78,474,666 (GRCm39) |
I622S |
probably damaging |
Het |
Bmper |
G |
T |
9: 23,289,021 (GRCm39) |
V339F |
probably benign |
Het |
Btbd8 |
C |
T |
5: 107,655,176 (GRCm39) |
Q992* |
probably null |
Het |
C1ra |
A |
G |
6: 124,499,293 (GRCm39) |
D493G |
probably damaging |
Het |
C3 |
C |
T |
17: 57,533,830 (GRCm39) |
|
probably null |
Het |
Cabp4 |
T |
A |
19: 4,187,120 (GRCm39) |
I209F |
possibly damaging |
Het |
Cacna1s |
A |
T |
1: 136,007,342 (GRCm39) |
H453L |
probably damaging |
Het |
Camk2g |
A |
G |
14: 20,842,652 (GRCm39) |
V32A |
probably benign |
Het |
Ccdc175 |
G |
A |
12: 72,206,527 (GRCm39) |
R240C |
probably damaging |
Het |
Cdk13 |
C |
T |
13: 17,946,988 (GRCm39) |
S590N |
possibly damaging |
Het |
Cfap45 |
A |
T |
1: 172,357,443 (GRCm39) |
T24S |
probably benign |
Het |
Clca3a1 |
T |
G |
3: 144,730,324 (GRCm39) |
K174Q |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,529,058 (GRCm39) |
|
probably benign |
Het |
Colgalt1 |
A |
T |
8: 72,073,277 (GRCm39) |
I323F |
possibly damaging |
Het |
Cpeb3 |
A |
T |
19: 37,152,059 (GRCm39) |
S106T |
probably damaging |
Het |
Cpeb3 |
T |
C |
19: 37,151,633 (GRCm39) |
S248G |
possibly damaging |
Het |
Ctcfl |
C |
T |
2: 172,937,191 (GRCm39) |
A576T |
probably benign |
Het |
Cyp4f16 |
T |
G |
17: 32,769,295 (GRCm39) |
V395G |
possibly damaging |
Het |
Dchs1 |
C |
T |
7: 105,415,462 (GRCm39) |
G605S |
probably damaging |
Het |
Egflam |
A |
T |
15: 7,249,110 (GRCm39) |
F903I |
probably damaging |
Het |
Eif5a |
G |
A |
11: 69,808,311 (GRCm39) |
A62V |
possibly damaging |
Het |
Fam217a |
A |
G |
13: 35,094,389 (GRCm39) |
S609P |
probably damaging |
Het |
Fhad1 |
T |
A |
4: 141,712,822 (GRCm39) |
I206F |
probably benign |
Het |
Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,856,617 (GRCm39) |
M2000K |
probably benign |
Het |
Frmd5 |
C |
T |
2: 121,422,134 (GRCm39) |
|
probably null |
Het |
Gle1 |
T |
C |
2: 29,826,092 (GRCm39) |
L57P |
probably benign |
Het |
Glrx3 |
C |
A |
7: 137,046,765 (GRCm39) |
N52K |
probably damaging |
Het |
Grin3b |
A |
G |
10: 79,812,938 (GRCm39) |
*1004W |
probably null |
Het |
Hectd4 |
T |
A |
5: 121,401,954 (GRCm39) |
F347L |
probably benign |
Het |
Htra1 |
G |
A |
7: 130,586,802 (GRCm39) |
V462I |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,662,581 (GRCm39) |
Y518C |
probably damaging |
Het |
Krtap15-1 |
T |
C |
16: 88,626,253 (GRCm39) |
F88L |
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,943,917 (GRCm39) |
R866W |
probably damaging |
Het |
Lamb1 |
G |
A |
12: 31,338,280 (GRCm39) |
R483H |
probably damaging |
Het |
Megf6 |
C |
T |
4: 154,349,848 (GRCm39) |
R983C |
probably damaging |
Het |
Myo7b |
A |
T |
18: 32,097,489 (GRCm39) |
N1792K |
probably benign |
Het |
Nabp2 |
A |
T |
10: 128,237,556 (GRCm39) |
|
probably benign |
Het |
Neil3 |
A |
G |
8: 54,091,928 (GRCm39) |
C7R |
probably damaging |
Het |
Nxpe2 |
T |
A |
9: 48,230,897 (GRCm39) |
I491F |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,952,291 (GRCm39) |
V4292A |
possibly damaging |
Het |
Ogfod3 |
A |
G |
11: 121,088,318 (GRCm39) |
S139P |
probably damaging |
Het |
Oog2 |
T |
C |
4: 143,921,669 (GRCm39) |
I211T |
possibly damaging |
Het |
Oosp1 |
T |
C |
19: 11,666,080 (GRCm39) |
D70G |
probably benign |
Het |
Or10j2 |
A |
T |
1: 173,098,546 (GRCm39) |
D268V |
probably damaging |
Het |
Or1ab2 |
A |
G |
8: 72,863,425 (GRCm39) |
N5S |
probably damaging |
Het |
Or56a42-ps1 |
C |
A |
7: 104,777,435 (GRCm39) |
V70L |
probably benign |
Het |
Or6c210 |
A |
G |
10: 129,496,589 (GRCm39) |
I305V |
probably benign |
Het |
Padi3 |
T |
C |
4: 140,522,937 (GRCm39) |
D345G |
probably damaging |
Het |
Pcyt2 |
A |
G |
11: 120,506,246 (GRCm39) |
F71L |
probably benign |
Het |
Pi4k2b |
T |
C |
5: 52,911,971 (GRCm39) |
|
probably benign |
Het |
Pigr |
A |
C |
1: 130,776,195 (GRCm39) |
T577P |
possibly damaging |
Het |
Pirb |
G |
A |
7: 3,722,361 (GRCm39) |
Q161* |
probably null |
Het |
Pnlip |
A |
G |
19: 58,664,672 (GRCm39) |
E204G |
possibly damaging |
Het |
Pop7 |
G |
T |
5: 137,500,161 (GRCm39) |
D57E |
probably benign |
Het |
Ppfia4 |
A |
T |
1: 134,260,239 (GRCm39) |
I8N |
probably damaging |
Het |
Pprc1 |
A |
G |
19: 46,052,758 (GRCm39) |
T759A |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,202,894 (GRCm39) |
N213S |
probably benign |
Het |
Prop1 |
GCTTCACT |
GCTTCACTTCACT |
11: 50,842,863 (GRCm39) |
|
probably null |
Het |
Prop1 |
A |
T |
11: 50,842,872 (GRCm39) |
L105H |
probably damaging |
Het |
Pwp2 |
A |
T |
10: 78,018,328 (GRCm39) |
M121K |
possibly damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,689,509 (GRCm39) |
M161K |
possibly damaging |
Het |
Rps6kb2 |
T |
A |
19: 4,207,002 (GRCm39) |
|
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,552,109 (GRCm39) |
S731P |
probably benign |
Het |
Scfd1 |
T |
C |
12: 51,437,195 (GRCm39) |
V137A |
probably benign |
Het |
Slc6a15 |
G |
A |
10: 103,240,275 (GRCm39) |
D333N |
probably damaging |
Het |
Sqor |
T |
C |
2: 122,627,101 (GRCm39) |
V74A |
possibly damaging |
Het |
Stil |
T |
A |
4: 114,881,422 (GRCm39) |
Y655* |
probably null |
Het |
Syt14 |
A |
T |
1: 192,581,167 (GRCm39) |
I468K |
probably damaging |
Het |
Tbc1d31 |
T |
C |
15: 57,825,661 (GRCm39) |
|
probably null |
Het |
Tspyl5 |
A |
T |
15: 33,686,995 (GRCm39) |
S317T |
probably damaging |
Het |
Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
Ttf2 |
T |
C |
3: 100,861,631 (GRCm39) |
T620A |
probably damaging |
Het |
Usp32 |
G |
A |
11: 84,946,598 (GRCm39) |
Q269* |
probably null |
Het |
Vsig10 |
T |
A |
5: 117,476,308 (GRCm39) |
V254E |
probably benign |
Het |
Wdr6 |
C |
T |
9: 108,450,187 (GRCm39) |
A1114T |
probably benign |
Het |
Zfp280d |
A |
G |
9: 72,238,714 (GRCm39) |
S63G |
probably damaging |
Het |
Zfp607b |
A |
G |
7: 27,403,221 (GRCm39) |
D559G |
probably benign |
Het |
Zfp934 |
T |
C |
13: 62,665,768 (GRCm39) |
H291R |
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 |
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'- CGCTGATCCTGCAGATTGTG -3'
(R):5'- AGGGACCTCTGCCTTTCTTG -3'
Sequencing Primer
(F):5'- TATGTGGGCCCGGAACCTC -3'
(R):5'- TACCATGCAGGAAACCAGAATAATG -3'
|
Posted On |
2016-04-15 |