Incidental Mutation 'R2219:Mybpc1'
| ID |
241347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc1
|
| Ensembl Gene |
ENSMUSG00000020061 |
| Gene Name |
myosin binding protein C, slow-type |
| Synonyms |
Slow-type C-protein, 8030451F13Rik |
| MMRRC Submission |
040221-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R2219 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88391540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 319
(D319V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
| AlphaFold |
A0A571BEN1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119185
AA Change: D305V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: D305V
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
51 |
147 |
1.96e-6 |
SMART |
|
low complexity region
|
221 |
233 |
N/A |
INTRINSIC |
|
IG
|
246 |
325 |
4.53e-2 |
SMART |
|
IG
|
335 |
416 |
1.13e-2 |
SMART |
|
IG
|
426 |
506 |
6.97e-3 |
SMART |
|
IG
|
519 |
604 |
2.83e-3 |
SMART |
|
FN3
|
607 |
690 |
4.28e-10 |
SMART |
|
FN3
|
705 |
788 |
1.49e-9 |
SMART |
|
low complexity region
|
800 |
812 |
N/A |
INTRINSIC |
|
IG
|
815 |
898 |
9.06e-2 |
SMART |
|
FN3
|
901 |
983 |
2.06e-12 |
SMART |
|
IGc2
|
1028 |
1095 |
1.88e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121629
AA Change: D319V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: D319V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
IG
|
65 |
161 |
1.96e-6 |
SMART |
|
low complexity region
|
235 |
247 |
N/A |
INTRINSIC |
|
IG
|
260 |
339 |
4.53e-2 |
SMART |
|
IG
|
349 |
430 |
1.13e-2 |
SMART |
|
IG
|
440 |
520 |
6.97e-3 |
SMART |
|
IG
|
533 |
618 |
2.83e-3 |
SMART |
|
FN3
|
621 |
704 |
4.28e-10 |
SMART |
|
FN3
|
719 |
802 |
1.49e-9 |
SMART |
|
low complexity region
|
814 |
826 |
N/A |
INTRINSIC |
|
IG
|
829 |
912 |
9.06e-2 |
SMART |
|
FN3
|
915 |
997 |
2.06e-12 |
SMART |
|
IGc2
|
1042 |
1109 |
1.88e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156573
|
| SMART Domains |
Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1X44|A
|
2 |
58 |
1e-26 |
PDB |
|
IG
|
66 |
146 |
6.97e-3 |
SMART |
|
IG
|
159 |
244 |
2.83e-3 |
SMART |
|
FN3
|
247 |
330 |
4.28e-10 |
SMART |
|
FN3
|
345 |
446 |
1.6e-9 |
SMART |
|
low complexity region
|
458 |
470 |
N/A |
INTRINSIC |
|
IG
|
473 |
556 |
9.06e-2 |
SMART |
|
FN3
|
559 |
617 |
8.17e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
A |
G |
7: 42,095,769 (GRCm39) |
Y160H |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,708,912 (GRCm39) |
N34K |
possibly damaging |
Het |
| Ago2 |
T |
A |
15: 73,018,260 (GRCm39) |
E59D |
probably benign |
Het |
| Akap8l |
G |
T |
17: 32,553,605 (GRCm39) |
Q372K |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,388,289 (GRCm39) |
|
probably null |
Het |
| Apc2 |
T |
C |
10: 80,144,943 (GRCm39) |
V618A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,764,047 (GRCm39) |
C2140S |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,410,831 (GRCm39) |
L671P |
probably damaging |
Het |
| Capn9 |
C |
T |
8: 125,335,898 (GRCm39) |
R529* |
probably null |
Het |
| Ccdc180 |
T |
A |
4: 45,944,949 (GRCm39) |
N1452K |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,869,538 (GRCm39) |
I755F |
possibly damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,538,741 (GRCm39) |
M473L |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,943,184 (GRCm39) |
I1614V |
probably damaging |
Het |
| Champ1 |
A |
G |
8: 13,930,017 (GRCm39) |
H725R |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,508,369 (GRCm39) |
T1294S |
possibly damaging |
Het |
| Cops8 |
A |
C |
1: 90,534,341 (GRCm39) |
N94T |
probably benign |
Het |
| Cpne7 |
G |
T |
8: 123,851,177 (GRCm39) |
V155L |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,089,338 (GRCm39) |
V703A |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,916,703 (GRCm39) |
L575P |
probably damaging |
Het |
| Dmc1 |
T |
A |
15: 79,469,327 (GRCm39) |
H156L |
possibly damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,899,654 (GRCm39) |
|
probably benign |
Het |
| Dst |
C |
G |
1: 34,209,514 (GRCm39) |
L869V |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,849,142 (GRCm39) |
M180K |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,405,740 (GRCm39) |
T1173A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,064,364 (GRCm39) |
K4773N |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,186,035 (GRCm39) |
P1771L |
possibly damaging |
Het |
| Fer1l4 |
T |
G |
2: 155,873,684 (GRCm39) |
Y1207S |
probably damaging |
Het |
| Fermt2 |
G |
A |
14: 45,713,354 (GRCm39) |
T87I |
probably benign |
Het |
| Fpr3 |
T |
A |
17: 18,191,644 (GRCm39) |
M305K |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,496,249 (GRCm39) |
E231G |
probably benign |
Het |
| Ggcx |
T |
C |
6: 72,404,965 (GRCm39) |
Y458H |
probably benign |
Het |
| Ggt7 |
A |
G |
2: 155,337,639 (GRCm39) |
S504P |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,910 (GRCm39) |
H293R |
possibly damaging |
Het |
| Gm5475 |
A |
G |
15: 100,322,094 (GRCm39) |
|
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,573,993 (GRCm39) |
L115M |
probably damaging |
Het |
| Itln1 |
T |
A |
1: 171,359,115 (GRCm39) |
T122S |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,334,027 (GRCm39) |
L2033Q |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,919,565 (GRCm39) |
D2222G |
probably damaging |
Het |
| Lars2 |
T |
C |
9: 123,247,845 (GRCm39) |
L334P |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,425,249 (GRCm39) |
|
probably null |
Het |
| Man1a |
T |
C |
10: 53,853,145 (GRCm39) |
I324M |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,233,607 (GRCm39) |
E994G |
probably damaging |
Het |
| Mettl21a |
A |
T |
1: 64,655,442 (GRCm39) |
V46E |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 96,096,801 (GRCm39) |
D398G |
probably benign |
Het |
| Or10ad1c |
T |
A |
15: 98,084,848 (GRCm39) |
K277* |
probably null |
Het |
| Or4a47 |
A |
T |
2: 89,665,769 (GRCm39) |
D173E |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,498,211 (GRCm39) |
N6K |
possibly damaging |
Het |
| Or4c35 |
G |
A |
2: 89,808,256 (GRCm39) |
V45I |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,752 (GRCm39) |
I98N |
probably damaging |
Het |
| Or5b113 |
T |
A |
19: 13,342,901 (GRCm39) |
I303N |
possibly damaging |
Het |
| Or5p5 |
G |
A |
7: 107,414,429 (GRCm39) |
V213I |
probably benign |
Het |
| Or9m1 |
A |
C |
2: 87,733,269 (GRCm39) |
Y250* |
probably null |
Het |
| Otogl |
C |
T |
10: 107,692,838 (GRCm39) |
C882Y |
probably damaging |
Het |
| Parp10 |
A |
G |
15: 76,117,783 (GRCm39) |
Y868H |
probably damaging |
Het |
| Pick1 |
T |
A |
15: 79,123,899 (GRCm39) |
I90N |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,218,227 (GRCm39) |
V1170I |
probably benign |
Het |
| Pim3 |
G |
A |
15: 88,747,115 (GRCm39) |
V54I |
possibly damaging |
Het |
| Pinlyp |
T |
C |
7: 24,245,433 (GRCm39) |
|
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,900,488 (GRCm39) |
N87K |
probably benign |
Het |
| Ppfia3 |
G |
A |
7: 45,004,314 (GRCm39) |
Q473* |
probably null |
Het |
| Rab3gap2 |
G |
A |
1: 185,008,113 (GRCm39) |
G1056E |
probably damaging |
Het |
| Ralgapa2 |
G |
A |
2: 146,263,599 (GRCm39) |
T706I |
probably benign |
Het |
| Reln |
T |
C |
5: 22,177,045 (GRCm39) |
T1874A |
possibly damaging |
Het |
| Rftn1 |
C |
A |
17: 50,476,173 (GRCm39) |
M1I |
probably null |
Het |
| Ros1 |
T |
A |
10: 52,042,175 (GRCm39) |
Q250L |
probably damaging |
Het |
| Slc11a1 |
T |
A |
1: 74,419,824 (GRCm39) |
F166I |
probably damaging |
Het |
| Slc17a9 |
A |
G |
2: 180,373,755 (GRCm39) |
T59A |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,028,476 (GRCm39) |
K364R |
probably damaging |
Het |
| Slitrk2 |
T |
C |
X: 65,698,754 (GRCm39) |
I415T |
probably damaging |
Het |
| Stom |
A |
G |
2: 35,211,613 (GRCm39) |
I136T |
possibly damaging |
Het |
| Strc |
G |
T |
2: 121,195,004 (GRCm39) |
P1728T |
probably damaging |
Het |
| Telo2 |
C |
A |
17: 25,322,673 (GRCm39) |
V640F |
probably benign |
Het |
| Tg |
T |
C |
15: 66,553,782 (GRCm39) |
V399A |
probably benign |
Het |
| Tmem214 |
A |
G |
5: 31,030,975 (GRCm39) |
K383E |
possibly damaging |
Het |
| Tomm40l |
A |
T |
1: 171,049,550 (GRCm39) |
L13* |
probably null |
Het |
| Tonsl |
A |
T |
15: 76,518,840 (GRCm39) |
N526K |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tymp |
T |
A |
15: 89,258,965 (GRCm39) |
M240L |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,296,968 (GRCm39) |
S271T |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,312,749 (GRCm39) |
N353K |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,151,191 (GRCm39) |
F266I |
possibly damaging |
Het |
| Vmn2r103 |
C |
T |
17: 20,013,909 (GRCm39) |
R234W |
probably damaging |
Het |
| Zfp109 |
C |
A |
7: 23,927,886 (GRCm39) |
D508Y |
probably damaging |
Het |
| Zfp623 |
T |
C |
15: 75,819,379 (GRCm39) |
S112P |
possibly damaging |
Het |
| Zfp735 |
A |
G |
11: 73,601,851 (GRCm39) |
N265S |
possibly damaging |
Het |
| Zfp879 |
A |
G |
11: 50,724,094 (GRCm39) |
C321R |
probably damaging |
Het |
|
| Other mutations in Mybpc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Mybpc1
|
APN |
10 |
88,385,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00577:Mybpc1
|
APN |
10 |
88,372,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00703:Mybpc1
|
APN |
10 |
88,360,970 (GRCm39) |
splice site |
probably null |
|
|
IGL00964:Mybpc1
|
APN |
10 |
88,391,604 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01738:Mybpc1
|
APN |
10 |
88,406,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01978:Mybpc1
|
APN |
10 |
88,367,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02255:Mybpc1
|
APN |
10 |
88,372,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02997:Mybpc1
|
APN |
10 |
88,362,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Mybpc1
|
UTSW |
10 |
88,365,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0240:Mybpc1
|
UTSW |
10 |
88,391,600 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0240:Mybpc1
|
UTSW |
10 |
88,391,600 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0449:Mybpc1
|
UTSW |
10 |
88,376,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0879:Mybpc1
|
UTSW |
10 |
88,407,378 (GRCm39) |
splice site |
probably benign |
|
|
R1321:Mybpc1
|
UTSW |
10 |
88,406,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1321:Mybpc1
|
UTSW |
10 |
88,365,403 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1562:Mybpc1
|
UTSW |
10 |
88,389,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Mybpc1
|
UTSW |
10 |
88,406,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Mybpc1
|
UTSW |
10 |
88,389,157 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1962:Mybpc1
|
UTSW |
10 |
88,384,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Mybpc1
|
UTSW |
10 |
88,387,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2006:Mybpc1
|
UTSW |
10 |
88,381,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2125:Mybpc1
|
UTSW |
10 |
88,409,299 (GRCm39) |
nonsense |
probably null |
|
|
R2129:Mybpc1
|
UTSW |
10 |
88,387,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Mybpc1
|
UTSW |
10 |
88,376,804 (GRCm39) |
splice site |
probably benign |
|
|
R2200:Mybpc1
|
UTSW |
10 |
88,391,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2270:Mybpc1
|
UTSW |
10 |
88,387,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2961:Mybpc1
|
UTSW |
10 |
88,367,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3767:Mybpc1
|
UTSW |
10 |
88,406,521 (GRCm39) |
splice site |
probably null |
|
|
R4032:Mybpc1
|
UTSW |
10 |
88,365,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4226:Mybpc1
|
UTSW |
10 |
88,409,387 (GRCm39) |
nonsense |
probably null |
|
|
R4821:Mybpc1
|
UTSW |
10 |
88,384,727 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4876:Mybpc1
|
UTSW |
10 |
88,372,286 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4876:Mybpc1
|
UTSW |
10 |
88,358,853 (GRCm39) |
missense |
probably benign |
|
|
R4878:Mybpc1
|
UTSW |
10 |
88,387,292 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4910:Mybpc1
|
UTSW |
10 |
88,391,586 (GRCm39) |
nonsense |
probably null |
|
|
R4913:Mybpc1
|
UTSW |
10 |
88,389,116 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4964:Mybpc1
|
UTSW |
10 |
88,391,525 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5023:Mybpc1
|
UTSW |
10 |
88,379,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Mybpc1
|
UTSW |
10 |
88,381,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Mybpc1
|
UTSW |
10 |
88,372,213 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5344:Mybpc1
|
UTSW |
10 |
88,406,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Mybpc1
|
UTSW |
10 |
88,358,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Mybpc1
|
UTSW |
10 |
88,381,891 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5808:Mybpc1
|
UTSW |
10 |
88,406,428 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5970:Mybpc1
|
UTSW |
10 |
88,378,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Mybpc1
|
UTSW |
10 |
88,404,481 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6433:Mybpc1
|
UTSW |
10 |
88,396,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6441:Mybpc1
|
UTSW |
10 |
88,389,139 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6648:Mybpc1
|
UTSW |
10 |
88,358,861 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6844:Mybpc1
|
UTSW |
10 |
88,372,243 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6931:Mybpc1
|
UTSW |
10 |
88,378,192 (GRCm39) |
nonsense |
probably null |
|
|
R6972:Mybpc1
|
UTSW |
10 |
88,396,223 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6973:Mybpc1
|
UTSW |
10 |
88,396,223 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6978:Mybpc1
|
UTSW |
10 |
88,358,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Mybpc1
|
UTSW |
10 |
88,389,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Mybpc1
|
UTSW |
10 |
88,379,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Mybpc1
|
UTSW |
10 |
88,385,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7442:Mybpc1
|
UTSW |
10 |
88,362,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Mybpc1
|
UTSW |
10 |
88,385,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Mybpc1
|
UTSW |
10 |
88,384,716 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7768:Mybpc1
|
UTSW |
10 |
88,378,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Mybpc1
|
UTSW |
10 |
88,394,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Mybpc1
|
UTSW |
10 |
88,358,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8195:Mybpc1
|
UTSW |
10 |
88,394,553 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8241:Mybpc1
|
UTSW |
10 |
88,372,286 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8360:Mybpc1
|
UTSW |
10 |
88,409,359 (GRCm39) |
nonsense |
probably null |
|
|
R8494:Mybpc1
|
UTSW |
10 |
88,362,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8849:Mybpc1
|
UTSW |
10 |
88,407,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8936:Mybpc1
|
UTSW |
10 |
88,394,437 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9031:Mybpc1
|
UTSW |
10 |
88,358,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9061:Mybpc1
|
UTSW |
10 |
88,391,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Mybpc1
|
UTSW |
10 |
88,389,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9172:Mybpc1
|
UTSW |
10 |
88,379,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9323:Mybpc1
|
UTSW |
10 |
88,360,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9460:Mybpc1
|
UTSW |
10 |
88,372,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9488:Mybpc1
|
UTSW |
10 |
88,379,624 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9757:Mybpc1
|
UTSW |
10 |
88,372,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Mybpc1
|
UTSW |
10 |
88,406,497 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1176:Mybpc1
|
UTSW |
10 |
88,396,189 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Mybpc1
|
UTSW |
10 |
88,409,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATTGCTTCTCTGGGCTGAAG -3'
(R):5'- AAAGTGAGCTTTGGGTTGACAC -3'
Sequencing Primer
(F):5'- TCTGGGCTGAAGGGGCG -3'
(R):5'- AGCTTTGGGTTGACACTAATTGGAC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation