Incidental Mutation 'R7768:Mybpc1'
| ID |
598400 |
| 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 |
045824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R7768 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 88378234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 688
(G688V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
| AlphaFold |
A0A571BEN1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119185
AA Change: G688V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: G688V
| 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: G702V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: G702V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
AA Change: G327V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 |
|---|
| Actn2 |
A |
G |
13: 12,297,480 (GRCm39) |
V479A |
possibly damaging |
Het |
| Acy1 |
G |
A |
9: 106,310,817 (GRCm39) |
T317M |
possibly damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,307,410 (GRCm39) |
D797E |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,588,013 (GRCm39) |
A552V |
probably benign |
Het |
| Ankrd13c |
A |
G |
3: 157,694,284 (GRCm39) |
T262A |
probably benign |
Het |
| Ap4e1 |
A |
T |
2: 126,888,854 (GRCm39) |
N468Y |
probably damaging |
Het |
| Apbb1 |
T |
C |
7: 105,216,295 (GRCm39) |
I367V |
probably benign |
Het |
| Arl6 |
A |
G |
16: 59,452,699 (GRCm39) |
I33T |
probably damaging |
Het |
| Asgr2 |
T |
C |
11: 69,996,242 (GRCm39) |
I228T |
probably damaging |
Het |
| Aspn |
A |
G |
13: 49,710,871 (GRCm39) |
H172R |
probably damaging |
Het |
| Bclaf1 |
T |
A |
10: 20,215,517 (GRCm39) |
F868L |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,265,389 (GRCm39) |
R1547H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,816,610 (GRCm39) |
Q1778K |
probably benign |
Het |
| Cep250 |
T |
C |
2: 155,827,929 (GRCm39) |
L42S |
|
Het |
| Clnk |
C |
A |
5: 38,925,501 (GRCm39) |
R100L |
probably damaging |
Het |
| Cpvl |
A |
G |
6: 53,873,476 (GRCm39) |
V420A |
possibly damaging |
Het |
| Dicer1 |
C |
A |
12: 104,672,956 (GRCm39) |
G825V |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,288,223 (GRCm39) |
Y2628C |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,176,634 (GRCm39) |
H751Q |
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,370,302 (GRCm39) |
R4576S |
possibly damaging |
Het |
| Dzip1 |
A |
T |
14: 119,116,910 (GRCm39) |
D775E |
probably benign |
Het |
| Erich3 |
T |
A |
3: 154,453,968 (GRCm39) |
M381K |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,623,135 (GRCm39) |
D1241G |
possibly damaging |
Het |
| Gbx2 |
A |
G |
1: 89,856,706 (GRCm39) |
L228P |
probably benign |
Het |
| Ggt7 |
A |
T |
2: 155,348,421 (GRCm39) |
M77K |
possibly damaging |
Het |
| Gpr26 |
T |
A |
7: 131,576,077 (GRCm39) |
I247K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,874,302 (GRCm39) |
T745A |
probably damaging |
Het |
| Gusb |
A |
T |
5: 130,029,246 (GRCm39) |
H178Q |
probably benign |
Het |
| Hacl1 |
T |
C |
14: 31,338,437 (GRCm39) |
Y380C |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,440,239 (GRCm39) |
H380R |
possibly damaging |
Het |
| Icam4 |
T |
A |
9: 20,941,290 (GRCm39) |
L143Q |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,185,252 (GRCm39) |
I43F |
probably damaging |
Het |
| Ints11 |
G |
T |
4: 155,971,396 (GRCm39) |
K303N |
probably damaging |
Het |
| Itpa |
A |
T |
2: 130,509,836 (GRCm39) |
N16I |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kat6a |
T |
A |
8: 23,393,228 (GRCm39) |
N235K |
probably damaging |
Het |
| Kmt2a |
C |
T |
9: 44,731,900 (GRCm39) |
V2806I |
unknown |
Het |
| Loxhd1 |
T |
A |
18: 77,472,637 (GRCm39) |
F1051L |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,453,642 (GRCm39) |
E844G |
possibly damaging |
Het |
| Mmp7 |
T |
A |
9: 7,697,749 (GRCm39) |
Y261* |
probably null |
Het |
| Muc4 |
A |
C |
16: 32,576,568 (GRCm39) |
M2023L |
unknown |
Het |
| Myo3a |
A |
G |
2: 22,245,954 (GRCm39) |
T34A |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,531,409 (GRCm39) |
T683A |
possibly damaging |
Het |
| Nup160 |
A |
G |
2: 90,530,460 (GRCm39) |
I444V |
probably damaging |
Het |
| Or2t29 |
A |
T |
11: 58,433,466 (GRCm39) |
S292T |
probably damaging |
Het |
| Or2t29 |
A |
T |
11: 58,433,693 (GRCm39) |
M216K |
possibly damaging |
Het |
| Or4f4-ps1 |
A |
C |
2: 111,330,198 (GRCm39) |
K200N |
possibly damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,657 (GRCm39) |
M145V |
probably benign |
Het |
| Pcdha1 |
A |
G |
18: 37,065,220 (GRCm39) |
E628G |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,155,404 (GRCm39) |
S708P |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,781,599 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,181,514 (GRCm39) |
D577G |
probably damaging |
Het |
| Pla2r1 |
G |
T |
2: 60,279,290 (GRCm39) |
D763E |
probably benign |
Het |
| Pramel18 |
A |
C |
4: 101,769,010 (GRCm39) |
I454L |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,079,953 (GRCm39) |
I416N |
probably damaging |
Het |
| Rapgef6 |
G |
T |
11: 54,517,414 (GRCm39) |
V369F |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,615,767 (GRCm39) |
E357G |
probably damaging |
Het |
| Rhbdl3 |
G |
A |
11: 80,221,447 (GRCm39) |
R195Q |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,084,199 (GRCm39) |
M1K |
probably null |
Het |
| Rspry1 |
C |
A |
8: 95,356,469 (GRCm39) |
D165E |
probably damaging |
Het |
| Rwdd2b |
G |
A |
16: 87,233,633 (GRCm39) |
L156F |
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,644,338 (GRCm39) |
I141F |
probably benign |
Het |
| Sirt2 |
A |
T |
7: 28,482,284 (GRCm39) |
T198S |
probably benign |
Het |
| Slc2a1 |
A |
G |
4: 118,989,644 (GRCm39) |
N94D |
probably damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,855,039 (GRCm39) |
F407S |
possibly damaging |
Het |
| Slc38a4 |
A |
C |
15: 96,906,545 (GRCm39) |
L356R |
probably damaging |
Het |
| Slc43a1 |
T |
A |
2: 84,687,215 (GRCm39) |
L372Q |
probably damaging |
Het |
| Slc6a6 |
T |
A |
6: 91,716,946 (GRCm39) |
I274N |
probably damaging |
Het |
| Smchd1 |
C |
T |
17: 71,718,906 (GRCm39) |
G821D |
probably damaging |
Het |
| Spata33 |
T |
C |
8: 123,941,146 (GRCm39) |
F65S |
unknown |
Het |
| Spmip5 |
A |
T |
19: 58,781,174 (GRCm39) |
Y25N |
probably damaging |
Het |
| Stx19 |
A |
G |
16: 62,642,567 (GRCm39) |
T128A |
probably benign |
Het |
| Tas2r103 |
T |
C |
6: 133,013,812 (GRCm39) |
M85V |
probably benign |
Het |
| Tas2r117 |
C |
T |
6: 132,780,485 (GRCm39) |
L208F |
probably damaging |
Het |
| Tcirg1 |
A |
T |
19: 3,952,900 (GRCm39) |
I233N |
possibly damaging |
Het |
| Uba6 |
C |
A |
5: 86,300,779 (GRCm39) |
W192L |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,938,525 (GRCm39) |
I761T |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,549,754 (GRCm39) |
S671P |
possibly damaging |
Het |
| Usp8 |
A |
G |
2: 126,593,043 (GRCm39) |
Q766R |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,314 (GRCm39) |
N696S |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,086 (GRCm39) |
T302I |
probably benign |
Het |
| Vmn2r50 |
G |
A |
7: 9,771,298 (GRCm39) |
A801V |
probably damaging |
Het |
| Vmn2r85 |
T |
G |
10: 130,254,562 (GRCm39) |
Q707H |
probably damaging |
Het |
| Wsb2 |
G |
A |
5: 117,501,787 (GRCm39) |
V51M |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp442 |
T |
C |
2: 150,250,241 (GRCm39) |
K554E |
possibly 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 |
|
R2219:Mybpc1
|
UTSW |
10 |
88,391,540 (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 |
|
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'- TCTGAAGATGGTCAACTTCTCC -3'
(R):5'- CAAGGAACCCAAGTCTCTCTTC -3'
Sequencing Primer
(F):5'- CAAAGTCAGTTTGCAGTTCCTACG -3'
(R):5'- AAGGAACCCAAGTCTCTCTTCTTTTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation