Incidental Mutation 'R2129:Mybpc1'
| ID |
227858 |
| 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 |
040132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R2129 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 88387314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 466
(T466P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
| AlphaFold |
A0A571BEN1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119185
AA Change: T452P
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: T452P
| 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: T466P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: T466P
| 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 |
unknown
Transcript: ENSMUST00000156573
AA Change: T91P
|
| SMART Domains |
Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
AA Change: T91P
| 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 |
|
| Meta Mutation Damage Score |
0.1335 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (91/92) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 87,066,066 (GRCm39) |
E249G |
possibly damaging |
Het |
| 2610028H24Rik |
A |
G |
10: 76,293,349 (GRCm39) |
M136V |
possibly damaging |
Het |
| 4930523C07Rik |
A |
T |
1: 159,902,945 (GRCm39) |
K72* |
probably null |
Het |
| Abhd14a |
A |
T |
9: 106,318,064 (GRCm39) |
L125Q |
probably null |
Het |
| Abhd17b |
T |
A |
19: 21,658,413 (GRCm39) |
|
probably null |
Het |
| Abo |
G |
A |
2: 26,736,586 (GRCm39) |
T61I |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,815,799 (GRCm39) |
T686A |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,705,199 (GRCm39) |
F1537Y |
probably damaging |
Het |
| Anxa2 |
A |
T |
9: 69,383,410 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Aqp3 |
T |
A |
4: 41,098,061 (GRCm39) |
I17F |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,385,373 (GRCm39) |
V339A |
probably benign |
Het |
| Bri3bp |
T |
A |
5: 125,528,735 (GRCm39) |
L48* |
probably null |
Het |
| Car7 |
T |
A |
8: 105,275,605 (GRCm39) |
C185S |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,640,142 (GRCm39) |
Y399H |
probably benign |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,904,776 (GRCm39) |
Y203H |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,722,526 (GRCm39) |
D282G |
probably damaging |
Het |
| Coq3 |
T |
G |
4: 21,900,342 (GRCm39) |
S190A |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,744,407 (GRCm39) |
R1830C |
probably damaging |
Het |
| Cygb |
A |
G |
11: 116,540,668 (GRCm39) |
L106P |
probably damaging |
Het |
| Dab2 |
G |
T |
15: 6,365,864 (GRCm39) |
E87* |
probably null |
Het |
| Dcst1 |
T |
A |
3: 89,264,852 (GRCm39) |
I299F |
probably damaging |
Het |
| Dennd4a |
T |
G |
9: 64,813,256 (GRCm39) |
|
probably null |
Het |
| Depdc7 |
A |
G |
2: 104,558,518 (GRCm39) |
S168P |
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,688,290 (GRCm39) |
T429I |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,408,467 (GRCm39) |
Q3484R |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,618,242 (GRCm39) |
M125V |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,175,289 (GRCm39) |
S107P |
possibly damaging |
Het |
| Emb |
T |
C |
13: 117,404,082 (GRCm39) |
V278A |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,794,026 (GRCm39) |
Y518C |
probably damaging |
Het |
| Foxk1 |
C |
A |
5: 142,420,943 (GRCm39) |
S189* |
probably null |
Het |
| Galm |
T |
C |
17: 80,490,647 (GRCm39) |
I268T |
probably benign |
Het |
| Gm5581 |
A |
C |
6: 131,145,247 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr6 |
G |
A |
10: 40,947,168 (GRCm39) |
S138L |
possibly damaging |
Het |
| Hesx1 |
C |
A |
14: 26,722,802 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,531,570 (GRCm39) |
D421G |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,111,804 (GRCm39) |
T31A |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
| Krtap19-3 |
T |
C |
16: 88,674,863 (GRCm39) |
|
probably benign |
Het |
| Lin28a |
T |
A |
4: 133,745,465 (GRCm39) |
I43F |
probably benign |
Het |
| Lrriq1 |
G |
A |
10: 103,050,718 (GRCm39) |
T678I |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,262,608 (GRCm39) |
|
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,501,406 (GRCm39) |
E157G |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 76,972,941 (GRCm39) |
D648G |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,030,140 (GRCm39) |
L425P |
probably damaging |
Het |
| Mospd4 |
A |
G |
18: 46,598,731 (GRCm39) |
|
noncoding transcript |
Het |
| Myo10 |
T |
C |
15: 25,781,885 (GRCm39) |
Y1127H |
probably benign |
Het |
| Myo18b |
A |
T |
5: 112,978,944 (GRCm39) |
L1223Q |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,786,343 (GRCm39) |
Y670H |
probably damaging |
Het |
| Ndufaf4 |
G |
T |
4: 24,898,608 (GRCm39) |
D55Y |
probably damaging |
Het |
| Neurod2 |
G |
T |
11: 98,218,414 (GRCm39) |
A250E |
possibly damaging |
Het |
| Nherf1 |
A |
T |
11: 115,067,270 (GRCm39) |
I174F |
probably damaging |
Het |
| Nipsnap1 |
C |
A |
11: 4,838,932 (GRCm39) |
N119K |
probably benign |
Het |
| Npffr2 |
A |
T |
5: 89,715,924 (GRCm39) |
I84F |
probably damaging |
Het |
| Or10ab4 |
T |
A |
7: 107,655,111 (GRCm39) |
N307K |
probably benign |
Het |
| Or11h23 |
A |
G |
14: 50,948,093 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,437 (GRCm39) |
D125G |
probably damaging |
Het |
| Pald1 |
A |
G |
10: 61,184,085 (GRCm39) |
|
probably null |
Het |
| Palld |
T |
C |
8: 62,330,395 (GRCm39) |
S161G |
probably benign |
Het |
| Paqr9 |
T |
A |
9: 95,443,122 (GRCm39) |
F371I |
probably benign |
Het |
| Pear1 |
A |
T |
3: 87,665,666 (GRCm39) |
C120* |
probably null |
Het |
| Pla2g4e |
A |
T |
2: 120,013,292 (GRCm39) |
F343I |
probably damaging |
Het |
| Plxdc2 |
A |
T |
2: 16,516,902 (GRCm39) |
Y61F |
probably benign |
Het |
| Polh |
G |
A |
17: 46,499,014 (GRCm39) |
Q234* |
probably null |
Het |
| Prkce |
T |
A |
17: 86,803,463 (GRCm39) |
M454K |
possibly damaging |
Het |
| Proser1 |
C |
A |
3: 53,385,366 (GRCm39) |
T416K |
probably benign |
Het |
| Prr14l |
G |
T |
5: 32,989,172 (GRCm39) |
|
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,527 (GRCm39) |
D90E |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,266,415 (GRCm39) |
V667D |
possibly damaging |
Het |
| Rpp40 |
A |
T |
13: 36,082,604 (GRCm39) |
C256* |
probably null |
Het |
| Rps6ka5 |
A |
G |
12: 100,644,797 (GRCm39) |
L51P |
probably damaging |
Het |
| Rtp2 |
C |
T |
16: 23,746,457 (GRCm39) |
C78Y |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,508,715 (GRCm39) |
|
probably benign |
Het |
| Slc10a6 |
A |
G |
5: 103,756,922 (GRCm39) |
Y281H |
probably benign |
Het |
| Slc6a21 |
T |
G |
7: 44,932,197 (GRCm39) |
|
probably null |
Het |
| Smo |
A |
G |
6: 29,757,313 (GRCm39) |
Y476C |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,560,621 (GRCm39) |
T187S |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tasp1 |
T |
C |
2: 139,890,164 (GRCm39) |
K71E |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,566,743 (GRCm39) |
I1264V |
probably benign |
Het |
| Tmem41a |
T |
C |
16: 21,764,911 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
A |
G |
1: 180,793,105 (GRCm39) |
N459D |
probably benign |
Het |
| Ube2k |
A |
G |
5: 65,752,269 (GRCm39) |
T151A |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,773,034 (GRCm39) |
E402G |
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,981,248 (GRCm39) |
I897F |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,249,224 (GRCm39) |
E176G |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,649,917 (GRCm39) |
F431S |
probably damaging |
Het |
| Vmn1r206 |
T |
C |
13: 22,804,782 (GRCm39) |
S142G |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,085,416 (GRCm39) |
V1236M |
probably damaging |
Het |
| Zbtb32 |
T |
C |
7: 30,290,918 (GRCm39) |
K126E |
possibly damaging |
Het |
| Zeb1 |
A |
T |
18: 5,767,681 (GRCm39) |
S731C |
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 |
|
|
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 |
|
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'- TTACTTGACGAGAACTAGGCC -3'
(R):5'- AGTTGTCACCTTCAGAGCACG -3'
Sequencing Primer
(F):5'- TTACTTGACGAGAACTAGGCCATCTC -3'
(R):5'- CTTATAGGGCACTGTGAAATGCCAC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation