Incidental Mutation 'R6931:Mybpc1'
| ID |
540037 |
| 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 |
045326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.837)
|
| Stock # |
R6931 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 88378192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 341
(L341*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
| AlphaFold |
A0A571BEN1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000119185
AA Change: L702*
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: L702*
| 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 null
Transcript: ENSMUST00000121629
AA Change: L716*
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: L716*
| 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 null
Transcript: ENSMUST00000156573
AA Change: L341*
|
| SMART Domains |
Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
AA Change: L341*
| 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 |
0.9666 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,118,561 (GRCm39) |
I15N |
probably damaging |
Het |
| 2900092C05Rik |
T |
A |
7: 12,246,523 (GRCm39) |
S6R |
unknown |
Het |
| Abca6 |
T |
A |
11: 110,135,154 (GRCm39) |
L210F |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,765,400 (GRCm39) |
Q919R |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,100,884 (GRCm39) |
D811G |
possibly damaging |
Het |
| Akna |
A |
G |
4: 63,305,339 (GRCm39) |
S476P |
probably benign |
Het |
| Ankrd49 |
T |
C |
9: 14,694,122 (GRCm39) |
N15S |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,066,979 (GRCm39) |
D31G |
probably damaging |
Het |
| Aplp1 |
G |
T |
7: 30,142,625 (GRCm39) |
R106S |
probably damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,373,138 (GRCm39) |
L132S |
probably benign |
Het |
| Atp8b5 |
G |
T |
4: 43,364,108 (GRCm39) |
|
probably null |
Het |
| Axl |
T |
C |
7: 25,460,858 (GRCm39) |
D717G |
probably damaging |
Het |
| Bub1 |
T |
A |
2: 127,643,302 (GRCm39) |
D1014V |
probably damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,259,195 (GRCm39) |
V603E |
possibly damaging |
Het |
| Cnot11 |
G |
C |
1: 39,579,002 (GRCm39) |
C289S |
probably damaging |
Het |
| Coasy |
A |
G |
11: 100,974,407 (GRCm39) |
H191R |
probably benign |
Het |
| Cyp11a1 |
A |
T |
9: 57,932,403 (GRCm39) |
N341Y |
possibly damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,439 (GRCm39) |
N125S |
probably benign |
Het |
| Cyp2j8 |
A |
T |
4: 96,333,018 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
T |
11: 66,008,452 (GRCm39) |
I791K |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,682,487 (GRCm39) |
Q505H |
probably benign |
Het |
| Fam135a |
T |
A |
1: 24,124,568 (GRCm39) |
M1L |
probably damaging |
Het |
| Fam171a2 |
A |
G |
11: 102,329,260 (GRCm39) |
S500P |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,871,238 (GRCm39) |
S3718P |
possibly damaging |
Het |
| Frem1 |
G |
A |
4: 82,888,914 (GRCm39) |
P1085S |
probably damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,919,966 (GRCm39) |
I390V |
probably benign |
Het |
| Gemin4 |
A |
G |
11: 76,101,782 (GRCm39) |
L993P |
probably damaging |
Het |
| Ggnbp2 |
T |
A |
11: 84,723,993 (GRCm39) |
D647V |
probably damaging |
Het |
| Gpr84 |
A |
C |
15: 103,217,441 (GRCm39) |
L212R |
probably damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,158,997 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
T |
4: 137,268,031 (GRCm39) |
C2116F |
probably damaging |
Het |
| Icam4 |
T |
A |
9: 20,941,747 (GRCm39) |
V249E |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,138,099 (GRCm39) |
N429D |
probably benign |
Het |
| Kcns1 |
T |
C |
2: 164,006,758 (GRCm39) |
T402A |
probably damaging |
Het |
| Ky |
T |
A |
9: 102,414,826 (GRCm39) |
V246E |
probably damaging |
Het |
| Marchf1 |
A |
G |
8: 66,921,144 (GRCm39) |
T529A |
probably benign |
Het |
| Med18 |
C |
G |
4: 132,187,194 (GRCm39) |
V102L |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,696,249 (GRCm39) |
D160G |
probably damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,350,472 (GRCm39) |
I470T |
probably benign |
Het |
| Muc1 |
C |
T |
3: 89,136,466 (GRCm39) |
|
probably benign |
Het |
| Mup8 |
G |
A |
4: 60,220,322 (GRCm39) |
L137F |
probably damaging |
Het |
| Nacad |
A |
G |
11: 6,551,877 (GRCm39) |
F438S |
probably benign |
Het |
| Necap2 |
C |
A |
4: 140,805,523 (GRCm39) |
|
probably null |
Het |
| Nifk |
T |
C |
1: 118,260,078 (GRCm39) |
L163S |
possibly damaging |
Het |
| Npsr1 |
A |
G |
9: 24,201,293 (GRCm39) |
I73V |
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,529 (GRCm39) |
T172A |
possibly damaging |
Het |
| Oog3 |
C |
T |
4: 143,885,923 (GRCm39) |
C225Y |
probably benign |
Het |
| Or2d2 |
A |
G |
7: 106,728,108 (GRCm39) |
L164P |
probably damaging |
Het |
| Or4b13 |
A |
T |
2: 90,083,121 (GRCm39) |
C70* |
probably null |
Het |
| Or4c100 |
T |
A |
2: 88,356,538 (GRCm39) |
C204S |
possibly damaging |
Het |
| Or4p18 |
G |
A |
2: 88,232,408 (GRCm39) |
T290I |
probably benign |
Het |
| Plagl2 |
C |
A |
2: 153,077,863 (GRCm39) |
K39N |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,284,058 (GRCm39) |
D118E |
probably benign |
Het |
| Ppp4r3b |
A |
T |
11: 29,161,786 (GRCm39) |
K720I |
possibly damaging |
Het |
| Prmt3 |
A |
T |
7: 49,478,764 (GRCm39) |
T442S |
probably benign |
Het |
| Prr14l |
G |
A |
5: 32,988,035 (GRCm39) |
H487Y |
probably damaging |
Het |
| Psmb3 |
G |
A |
11: 97,594,797 (GRCm39) |
V63I |
probably benign |
Het |
| Psmc6 |
T |
A |
14: 45,581,182 (GRCm39) |
I326K |
possibly damaging |
Het |
| Ptcd1 |
T |
C |
5: 145,091,885 (GRCm39) |
T405A |
probably benign |
Het |
| Rbm33 |
G |
A |
5: 28,615,743 (GRCm39) |
V29M |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Scarb1 |
T |
A |
5: 125,361,783 (GRCm39) |
I107F |
probably damaging |
Het |
| Slc39a12 |
A |
G |
2: 14,394,186 (GRCm39) |
S19G |
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 153,964,143 (GRCm39) |
V503A |
probably benign |
Het |
| Slc9a9 |
T |
C |
9: 94,552,139 (GRCm39) |
S9P |
possibly damaging |
Het |
| Snrnp35 |
A |
C |
5: 124,628,764 (GRCm39) |
R192S |
possibly damaging |
Het |
| Tbx15 |
T |
C |
3: 99,259,467 (GRCm39) |
L446P |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,805 (GRCm39) |
F209L |
probably benign |
Het |
| Tmprss12 |
C |
T |
15: 100,183,149 (GRCm39) |
R164C |
probably damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,244,644 (GRCm39) |
F111Y |
possibly damaging |
Het |
| Trib2 |
A |
T |
12: 15,843,640 (GRCm39) |
M198K |
probably benign |
Het |
| Ttll8 |
A |
G |
15: 88,798,507 (GRCm39) |
S743P |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,460,580 (GRCm39) |
N2614Y |
probably benign |
Het |
| Usp6nl |
G |
A |
2: 6,435,269 (GRCm39) |
V343I |
possibly damaging |
Het |
| Vrtn |
C |
A |
12: 84,697,016 (GRCm39) |
Q589K |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,932,170 (GRCm39) |
Y706* |
probably null |
Het |
| Zc3h10 |
A |
G |
10: 128,380,553 (GRCm39) |
V268A |
probably damaging |
Het |
| Zfp442 |
C |
T |
2: 150,252,860 (GRCm39) |
|
probably null |
Het |
| Zpld2 |
A |
T |
4: 133,920,464 (GRCm39) |
M567K |
probably benign |
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 |
|
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'- CAGGGCCTACATTCTGAAGATG -3'
(R):5'- CAAGGAACCCAAGTCTCTCTTC -3'
Sequencing Primer
(F):5'- GGCCTACATTCTGAAGATGGTCAAC -3'
(R):5'- AAGGAACCCAAGTCTCTCTTCTTTTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation