Incidental Mutation 'IGL00985:Mybpc3'
ID |
27040 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mybpc3
|
Ensembl Gene |
ENSMUSG00000002100 |
Gene Name |
myosin binding protein C, cardiac |
Synonyms |
cardiac C-protein |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.602)
|
Stock # |
IGL00985
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90965704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1172
(E1172G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127070
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066473]
[ENSMUST00000075269]
[ENSMUST00000077941]
[ENSMUST00000099723]
[ENSMUST00000099725]
[ENSMUST00000111369]
[ENSMUST00000111370]
[ENSMUST00000137942]
[ENSMUST00000111430]
[ENSMUST00000111371]
[ENSMUST00000111381]
[ENSMUST00000111375]
[ENSMUST00000111373]
[ENSMUST00000111372]
[ENSMUST00000111376]
[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: 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: ENSMUST00000137942
AA Change: E1007G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000119994 Gene: ENSMUSG00000002100 AA Change: E1007G
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: E1171G
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000107058 Gene: ENSMUSG00000002100 AA Change: E1171G
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: ENSMUST00000154028
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156368
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153688
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125321
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125227
|
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: 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: 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: 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: 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: ENSMUST00000169776
AA Change: E1172G
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000127070 Gene: ENSMUSG00000002100 AA Change: E1172G
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 |
|
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 |
A630091E08Rik |
G |
T |
7: 98,193,125 (GRCm39) |
|
noncoding transcript |
Het |
Abca15 |
G |
A |
7: 119,996,241 (GRCm39) |
G1389E |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,184,600 (GRCm39) |
V92A |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,954,481 (GRCm39) |
S540G |
probably benign |
Het |
Aplnr |
A |
T |
2: 84,968,007 (GRCm39) |
Y344F |
probably benign |
Het |
Atm |
A |
T |
9: 53,371,116 (GRCm39) |
V2241E |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,403,023 (GRCm39) |
|
probably benign |
Het |
Cnpy1 |
A |
T |
5: 28,414,152 (GRCm39) |
Y91* |
probably null |
Het |
Cobl |
C |
A |
11: 12,204,843 (GRCm39) |
G613W |
probably damaging |
Het |
Csn1s2a |
T |
C |
5: 87,932,439 (GRCm39) |
S121P |
possibly damaging |
Het |
Flg2 |
A |
T |
3: 93,110,585 (GRCm39) |
Y871F |
unknown |
Het |
Gapvd1 |
T |
A |
2: 34,585,575 (GRCm39) |
D1008V |
probably damaging |
Het |
Gask1a |
T |
C |
9: 121,807,401 (GRCm39) |
L515P |
probably damaging |
Het |
Igfl3 |
T |
C |
7: 17,914,000 (GRCm39) |
|
probably null |
Het |
Kmt2b |
A |
T |
7: 30,279,352 (GRCm39) |
V1470E |
probably damaging |
Het |
Mcc |
A |
T |
18: 44,624,306 (GRCm39) |
L413Q |
probably damaging |
Het |
Mia2 |
G |
A |
12: 59,235,146 (GRCm39) |
G610D |
probably damaging |
Het |
Mlst8 |
A |
T |
17: 24,696,287 (GRCm39) |
D147E |
probably damaging |
Het |
Muc19 |
G |
T |
15: 91,770,943 (GRCm39) |
|
noncoding transcript |
Het |
Niban3 |
T |
C |
8: 72,057,507 (GRCm39) |
|
probably benign |
Het |
Nop14 |
A |
T |
5: 34,802,133 (GRCm39) |
L557Q |
probably damaging |
Het |
P3h3 |
T |
C |
6: 124,822,552 (GRCm39) |
T540A |
probably benign |
Het |
Phc3 |
T |
A |
3: 30,968,346 (GRCm39) |
I897F |
probably benign |
Het |
Plekhh2 |
G |
A |
17: 84,871,356 (GRCm39) |
V205I |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,547,254 (GRCm39) |
K506E |
probably damaging |
Het |
Pum1 |
C |
A |
4: 130,471,100 (GRCm39) |
T450K |
probably damaging |
Het |
Retnlg |
G |
A |
16: 48,694,688 (GRCm39) |
R112H |
possibly damaging |
Het |
Rgl2 |
T |
C |
17: 34,151,075 (GRCm39) |
V101A |
probably damaging |
Het |
Serinc5 |
A |
G |
13: 92,842,779 (GRCm39) |
T410A |
probably damaging |
Het |
Shroom1 |
T |
C |
11: 53,356,796 (GRCm39) |
V553A |
probably benign |
Het |
Slco4c1 |
A |
T |
1: 96,768,912 (GRCm39) |
W317R |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,703,790 (GRCm39) |
T268A |
probably benign |
Het |
Supt16 |
T |
C |
14: 52,399,148 (GRCm39) |
K1044E |
possibly damaging |
Het |
Tarbp1 |
A |
T |
8: 127,185,900 (GRCm39) |
L431I |
probably damaging |
Het |
Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
Tm7sf3 |
C |
T |
6: 146,507,692 (GRCm39) |
V457I |
possibly damaging |
Het |
Tmem132c |
A |
T |
5: 127,581,930 (GRCm39) |
S382C |
probably damaging |
Het |
Tmprss7 |
C |
A |
16: 45,482,685 (GRCm39) |
C582F |
probably damaging |
Het |
Tsc2 |
T |
C |
17: 24,816,105 (GRCm39) |
E1694G |
probably damaging |
Het |
Txndc2 |
G |
T |
17: 65,945,544 (GRCm39) |
S211Y |
possibly damaging |
Het |
Ubr3 |
A |
C |
2: 69,833,775 (GRCm39) |
T205P |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,620,489 (GRCm39) |
G741D |
probably damaging |
Het |
Vps8 |
G |
A |
16: 21,296,334 (GRCm39) |
|
probably benign |
Het |
Wdr19 |
G |
A |
5: 65,409,642 (GRCm39) |
D1127N |
probably benign |
Het |
Zim1 |
T |
A |
7: 6,685,759 (GRCm39) |
Y83F |
possibly 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 |
|
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 |
|
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 |
|
Posted On |
2013-04-17 |