Incidental Mutation 'R7577:Mybpc1'
| ID |
586524 |
| 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 |
045662-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R7577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88385187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 484
(D484V)
|
| 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: D484V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: D484V
| 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: D498V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: D498V
| 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: D123V
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
C |
T |
10: 78,902,325 (GRCm39) |
V664M |
possibly damaging |
Het |
| Abca4 |
A |
G |
3: 121,967,663 (GRCm39) |
T2238A |
probably damaging |
Het |
| Adss2 |
G |
A |
1: 177,595,263 (GRCm39) |
Q426* |
probably null |
Het |
| Afap1l2 |
T |
C |
19: 56,933,199 (GRCm39) |
E71G |
probably damaging |
Het |
| Afg1l |
T |
C |
10: 42,194,607 (GRCm39) |
D395G |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,592,302 (GRCm39) |
T385A |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,828,402 (GRCm39) |
T2357I |
|
Het |
| Ankfn1 |
T |
A |
11: 89,394,797 (GRCm39) |
S263C |
probably benign |
Het |
| Atpsckmt |
C |
T |
15: 31,606,186 (GRCm39) |
A48V |
probably damaging |
Het |
| Azin1 |
C |
T |
15: 38,501,665 (GRCm39) |
V29I |
probably benign |
Het |
| B3galt2 |
T |
C |
1: 143,523,042 (GRCm39) |
Y393H |
probably damaging |
Het |
| Cnbd2 |
G |
T |
2: 156,170,296 (GRCm39) |
R127L |
possibly damaging |
Het |
| Col6a5 |
A |
T |
9: 105,741,887 (GRCm39) |
L2344* |
probably null |
Het |
| Csn3 |
T |
C |
5: 88,077,821 (GRCm39) |
V109A |
not run |
Het |
| Cxcr2 |
C |
G |
1: 74,198,074 (GRCm39) |
N189K |
probably benign |
Het |
| Dclre1a |
A |
G |
19: 56,517,965 (GRCm39) |
F1038S |
probably damaging |
Het |
| Ddx21 |
T |
C |
10: 62,426,449 (GRCm39) |
Q468R |
probably benign |
Het |
| Dlx6 |
A |
G |
6: 6,863,423 (GRCm39) |
D15G |
probably damaging |
Het |
| Dnajb14 |
T |
C |
3: 137,610,558 (GRCm39) |
V262A |
possibly damaging |
Het |
| Dpp7 |
A |
G |
2: 25,245,603 (GRCm39) |
V161A |
probably benign |
Het |
| Enkur |
C |
T |
2: 21,209,913 (GRCm39) |
S16N |
probably benign |
Het |
| Ensa |
C |
A |
3: 95,535,956 (GRCm39) |
H96Q |
probably damaging |
Het |
| Ero1b |
T |
G |
13: 12,617,254 (GRCm39) |
C393G |
probably damaging |
Het |
| Fbxo3 |
T |
C |
2: 103,881,543 (GRCm39) |
F292L |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,848 (GRCm39) |
D1604G |
possibly damaging |
Het |
| Fos |
T |
C |
12: 85,521,871 (GRCm39) |
S102P |
probably benign |
Het |
| Foxs1 |
C |
T |
2: 152,774,361 (GRCm39) |
G231S |
probably benign |
Het |
| Furin |
T |
C |
7: 80,046,734 (GRCm39) |
D174G |
probably damaging |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Git2 |
C |
T |
5: 114,904,550 (GRCm39) |
R123H |
probably damaging |
Het |
| Gm32687 |
T |
A |
10: 81,716,023 (GRCm39) |
C472S |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,267,085 (GRCm39) |
E327G |
probably benign |
Het |
| Gpld1 |
A |
G |
13: 25,146,388 (GRCm39) |
T211A |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,511,803 (GRCm39) |
H214R |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,043,909 (GRCm39) |
T576A |
probably benign |
Het |
| Hnrnpd |
A |
T |
5: 100,115,113 (GRCm39) |
F142I |
probably damaging |
Het |
| Krt32 |
T |
A |
11: 99,972,047 (GRCm39) |
T434S |
probably benign |
Het |
| Lct |
T |
G |
1: 128,228,469 (GRCm39) |
D1008A |
probably damaging |
Het |
| Man1c1 |
A |
G |
4: 134,291,814 (GRCm39) |
|
probably null |
Het |
| Marchf7 |
T |
A |
2: 60,060,048 (GRCm39) |
C58* |
probably null |
Het |
| Mccc1 |
C |
T |
3: 36,029,943 (GRCm39) |
|
probably null |
Het |
| Myh10 |
T |
A |
11: 68,636,806 (GRCm39) |
C227S |
unknown |
Het |
| Niban1 |
T |
A |
1: 151,594,063 (GRCm39) |
V916E |
probably benign |
Het |
| Nin |
T |
C |
12: 70,109,480 (GRCm39) |
E153G |
|
Het |
| Nr1h2 |
G |
A |
7: 44,200,216 (GRCm39) |
T313M |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,477 (GRCm39) |
I116K |
probably damaging |
Het |
| Or5k15 |
G |
T |
16: 58,709,629 (GRCm39) |
A318D |
probably benign |
Het |
| Otog |
C |
A |
7: 45,937,279 (GRCm39) |
H1663N |
possibly damaging |
Het |
| Piezo2 |
G |
T |
18: 63,186,081 (GRCm39) |
T1696K |
probably benign |
Het |
| Plcd1 |
A |
T |
9: 118,901,322 (GRCm39) |
N703K |
possibly damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,102,031 (GRCm39) |
C7S |
probably benign |
Het |
| Pnma2 |
A |
G |
14: 67,153,428 (GRCm39) |
|
probably benign |
Het |
| Potegl |
A |
G |
2: 23,097,837 (GRCm39) |
Y5C |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,614,096 (GRCm39) |
Y1216C |
probably damaging |
Het |
| Prima1 |
T |
C |
12: 103,163,566 (GRCm39) |
Y135C |
probably damaging |
Het |
| Prkce |
C |
A |
17: 86,800,721 (GRCm39) |
S379* |
probably null |
Het |
| Prmt7 |
A |
G |
8: 106,968,835 (GRCm39) |
N383S |
probably damaging |
Het |
| Ptafr |
A |
G |
4: 132,307,063 (GRCm39) |
Y151C |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,449,486 (GRCm39) |
M1T |
probably null |
Het |
| Rad23a |
A |
T |
8: 85,565,108 (GRCm39) |
S136T |
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,947,818 (GRCm39) |
Y137N |
probably damaging |
Het |
| Sfxn4 |
A |
C |
19: 60,842,324 (GRCm39) |
I126S |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,373,726 (GRCm39) |
H935R |
probably damaging |
Het |
| Slitrk3 |
T |
G |
3: 72,958,448 (GRCm39) |
N108T |
probably damaging |
Het |
| Spred1 |
T |
A |
2: 117,007,806 (GRCm39) |
H237Q |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,074,820 (GRCm39) |
K1168N |
probably damaging |
Het |
| Syt14 |
T |
C |
1: 192,665,885 (GRCm39) |
K340E |
unknown |
Het |
| Tespa1 |
T |
C |
10: 130,190,624 (GRCm39) |
S84P |
probably damaging |
Het |
| Tmem268 |
G |
T |
4: 63,480,681 (GRCm39) |
|
probably benign |
Het |
| Tmem52b |
T |
A |
6: 129,493,040 (GRCm39) |
Y48* |
probably null |
Het |
| Tox2 |
C |
A |
2: 163,157,822 (GRCm39) |
Y295* |
probably null |
Het |
| Trp53bp1 |
T |
G |
2: 121,067,119 (GRCm39) |
T536P |
possibly damaging |
Het |
| Tysnd1 |
T |
C |
10: 61,531,665 (GRCm39) |
C106R |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,381,449 (GRCm39) |
I63V |
probably damaging |
Het |
| Vmn1r235 |
A |
G |
17: 21,481,881 (GRCm39) |
N69D |
possibly damaging |
Het |
| Vps11 |
A |
T |
9: 44,260,258 (GRCm39) |
M868K |
probably benign |
Het |
| Wipf3 |
A |
G |
6: 54,462,509 (GRCm39) |
T240A |
possibly damaging |
Het |
| Xirp2 |
G |
A |
2: 67,345,309 (GRCm39) |
E2517K |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,043,994 (GRCm39) |
L244Q |
unknown |
Het |
| Zdhhc18 |
G |
T |
4: 133,342,520 (GRCm39) |
S198* |
probably null |
Het |
| Zfp760 |
T |
A |
17: 21,941,242 (GRCm39) |
L139* |
probably null |
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 |
|
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'- GGTACCCTAGAAAACTGCTTCTTG -3'
(R):5'- CGAAACCACATCTGACTTGGG -3'
Sequencing Primer
(F):5'- ACCCTAGAAAACTGCTTCTTGTCATG -3'
(R):5'- CTTGGGTCAATGAATATAGTAACACC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation