Incidental Mutation 'R2424:Mybpc3'
| ID |
249468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc3
|
| Ensembl Gene |
ENSMUSG00000002100 |
| Gene Name |
myosin binding protein C, cardiac |
| Synonyms |
cardiac C-protein |
| MMRRC Submission |
040386-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R2424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90948489-90966861 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90966138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1233
(M1233L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066473]
[ENSMUST00000075269]
[ENSMUST00000077941]
[ENSMUST00000099723]
[ENSMUST00000099725]
[ENSMUST00000111369]
[ENSMUST00000111370]
[ENSMUST00000137942]
[ENSMUST00000111430]
[ENSMUST00000111375]
[ENSMUST00000111381]
[ENSMUST00000111371]
[ENSMUST00000111372]
[ENSMUST00000111373]
[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: M1068L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: M1068L
| 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: M1232L
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: M1232L
| 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: ENSMUST00000156368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125321
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153688
|
| 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: 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: 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: 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: 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: M1233L
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: M1233L
| 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 |
0.0851 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,590,159 (GRCm39) |
|
probably null |
Het |
| Acot3 |
G |
T |
12: 84,100,638 (GRCm39) |
R138L |
probably damaging |
Het |
| Ago3 |
A |
G |
4: 126,298,040 (GRCm39) |
V160A |
probably damaging |
Het |
| Akap9 |
A |
C |
5: 4,115,279 (GRCm39) |
E166D |
probably damaging |
Het |
| Arid5a |
T |
C |
1: 36,357,582 (GRCm39) |
Y136H |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,494,297 (GRCm39) |
V244A |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,444,303 (GRCm39) |
H560L |
probably benign |
Het |
| Btbd6 |
A |
G |
12: 112,941,980 (GRCm39) |
T482A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,770,980 (GRCm39) |
Y1828N |
probably damaging |
Het |
| Capzb |
A |
G |
4: 138,921,441 (GRCm39) |
M1V |
probably null |
Het |
| Cdh9 |
T |
G |
15: 16,850,440 (GRCm39) |
F524L |
probably damaging |
Het |
| Ctnna1 |
T |
C |
18: 35,386,760 (GRCm39) |
S846P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dock7 |
T |
A |
4: 98,833,544 (GRCm39) |
R1886* |
probably null |
Het |
| Dpp3 |
A |
T |
19: 4,957,735 (GRCm39) |
L711* |
probably null |
Het |
| Dst |
T |
A |
1: 34,206,141 (GRCm39) |
I566N |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,928,045 (GRCm39) |
S421R |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,011,828 (GRCm39) |
V825A |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,341,072 (GRCm39) |
|
probably benign |
Het |
| Fam187a |
T |
C |
11: 102,776,780 (GRCm39) |
Y195H |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,336,859 (GRCm39) |
C132Y |
probably damaging |
Het |
| Fbxw21 |
A |
T |
9: 108,986,587 (GRCm39) |
Y97* |
probably null |
Het |
| Grin1 |
A |
T |
2: 25,208,664 (GRCm39) |
C79S |
probably null |
Het |
| Haao |
T |
A |
17: 84,142,991 (GRCm39) |
Y118F |
probably damaging |
Het |
| Il11ra1 |
T |
A |
4: 41,768,222 (GRCm39) |
S378T |
probably damaging |
Het |
| Kcnj5 |
A |
T |
9: 32,234,116 (GRCm39) |
N66K |
probably damaging |
Het |
| Kif21a |
T |
A |
15: 90,855,399 (GRCm39) |
N668I |
probably damaging |
Het |
| Kprp |
A |
T |
3: 92,732,912 (GRCm39) |
L46Q |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,105,660 (GRCm39) |
T2056I |
probably benign |
Het |
| Madd |
G |
C |
2: 90,996,967 (GRCm39) |
D824E |
probably damaging |
Het |
| Mapk9 |
A |
G |
11: 49,754,499 (GRCm39) |
N84S |
probably damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,527,748 (GRCm39) |
V160A |
probably benign |
Het |
| Mrpl9 |
T |
C |
3: 94,351,113 (GRCm39) |
S98P |
probably benign |
Het |
| Neb |
A |
G |
2: 52,099,671 (GRCm39) |
|
probably benign |
Het |
| Ngly1 |
A |
G |
14: 16,290,721 (GRCm38) |
|
probably null |
Het |
| Nt5c1b |
A |
T |
12: 10,420,072 (GRCm39) |
T4S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,885,277 (GRCm39) |
|
probably benign |
Het |
| Or2h2c |
T |
C |
17: 37,422,408 (GRCm39) |
I155M |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,272,281 (GRCm39) |
Y193C |
probably damaging |
Het |
| Or8b1b |
T |
C |
9: 38,376,128 (GRCm39) |
S264P |
probably damaging |
Het |
| Or8g53 |
A |
G |
9: 39,683,593 (GRCm39) |
F168L |
probably benign |
Het |
| Otog |
A |
T |
7: 45,947,593 (GRCm39) |
K64* |
probably null |
Het |
| Papola |
A |
G |
12: 105,793,311 (GRCm39) |
T544A |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,297,002 (GRCm39) |
V790A |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,845,430 (GRCm39) |
R1252S |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,730 (GRCm39) |
T691A |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,783,111 (GRCm39) |
I159F |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,792,560 (GRCm39) |
E62V |
probably benign |
Het |
| Rnase1 |
A |
G |
14: 51,383,004 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Rnf214 |
T |
C |
9: 45,811,096 (GRCm39) |
D189G |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 79,869,023 (GRCm39) |
N365S |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,446,590 (GRCm39) |
H2480R |
probably benign |
Het |
| Slc27a6 |
G |
T |
18: 58,738,189 (GRCm39) |
C415F |
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,057,612 (GRCm39) |
I142V |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,014,590 (GRCm39) |
I1070V |
possibly damaging |
Het |
| Tbp |
T |
C |
17: 15,733,795 (GRCm39) |
F174L |
possibly damaging |
Het |
| Tex26 |
A |
G |
5: 149,393,913 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
A |
G |
5: 127,941,663 (GRCm39) |
V479A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,711,489 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
T |
A |
8: 124,757,165 (GRCm39) |
N957K |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,256,310 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
T |
C |
17: 23,515,842 (GRCm39) |
T550A |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,161 (GRCm39) |
V296A |
probably damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,431 (GRCm39) |
Y699* |
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 |
|
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'- TTCCCCTGAGCAGAGCCTAATC -3'
(R):5'- TCCTTGAACCAGGACAGCAG -3'
Sequencing Primer
(F):5'- AGAGCCTAATCCCCCATTGCTG -3'
(R):5'- CAGGGTCCATGGTGCTGTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation