Incidental Mutation 'R2006:Mybpc1'
| ID |
225585 |
| 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 |
040015-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R2006 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 88381921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 576
(A576S)
|
| 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: A576S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: A576S
| 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 |
possibly damaging
Transcript: ENSMUST00000121629
AA Change: A590S
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: A590S
| 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: A215S
|
| SMART Domains |
Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
AA Change: A215S
| 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: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,204,275 (GRCm39) |
F333L |
probably benign |
Het |
| Abcc2 |
T |
A |
19: 43,793,500 (GRCm39) |
F384Y |
probably damaging |
Het |
| Acr |
C |
T |
15: 89,458,404 (GRCm39) |
P362S |
probably benign |
Het |
| Acss3 |
T |
C |
10: 106,798,871 (GRCm39) |
D484G |
possibly damaging |
Het |
| Actrt1 |
A |
G |
X: 45,418,593 (GRCm39) |
T203A |
probably benign |
Het |
| Agtpbp1 |
A |
T |
13: 59,648,135 (GRCm39) |
C562S |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,984,439 (GRCm39) |
K1908E |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,897,634 (GRCm39) |
I283N |
probably damaging |
Het |
| Bbx |
G |
A |
16: 50,044,758 (GRCm39) |
T493M |
possibly damaging |
Het |
| Best2 |
C |
T |
8: 85,739,818 (GRCm39) |
|
probably null |
Het |
| C4bp |
C |
A |
1: 130,575,769 (GRCm39) |
E75* |
probably null |
Het |
| Calr3 |
A |
T |
8: 73,188,695 (GRCm39) |
V144D |
probably damaging |
Het |
| Capn1 |
C |
T |
19: 6,041,613 (GRCm39) |
G632D |
probably damaging |
Het |
| Catsper2 |
C |
A |
2: 121,236,838 (GRCm39) |
E270* |
probably null |
Het |
| Ccdc110 |
A |
T |
8: 46,396,349 (GRCm39) |
I747F |
probably damaging |
Het |
| Ccdc15 |
T |
A |
9: 37,226,768 (GRCm39) |
D389V |
possibly damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,435 (GRCm39) |
I125V |
probably benign |
Het |
| Crb2 |
A |
T |
2: 37,673,446 (GRCm39) |
D114V |
probably damaging |
Het |
| Crebbp |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
16: 3,902,617 (GRCm39) |
|
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,961,857 (GRCm39) |
V318A |
possibly damaging |
Het |
| Dab1 |
T |
C |
4: 104,462,522 (GRCm39) |
I32T |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,169,066 (GRCm39) |
V181A |
probably damaging |
Het |
| Dlg2 |
G |
A |
7: 91,614,825 (GRCm39) |
E255K |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,906,651 (GRCm39) |
D4170E |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,536,416 (GRCm39) |
T2111A |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,527,506 (GRCm39) |
Y1081C |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,621,112 (GRCm39) |
Y532C |
probably damaging |
Het |
| Fam83c |
T |
C |
2: 155,672,223 (GRCm39) |
D404G |
probably benign |
Het |
| Fam83g |
A |
G |
11: 61,593,801 (GRCm39) |
N445S |
possibly damaging |
Het |
| Ghr |
C |
T |
15: 3,357,464 (GRCm39) |
C268Y |
probably damaging |
Het |
| Gm8444 |
T |
C |
15: 81,727,775 (GRCm39) |
|
probably benign |
Het |
| Gp6 |
T |
A |
7: 4,387,988 (GRCm39) |
K160N |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,639,793 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Gtf3c2 |
C |
A |
5: 31,325,440 (GRCm39) |
G450C |
probably damaging |
Het |
| Icosl |
A |
T |
10: 77,907,787 (GRCm39) |
M116L |
possibly damaging |
Het |
| Il31ra |
T |
G |
13: 112,666,890 (GRCm39) |
Y396S |
probably damaging |
Het |
| Insig1 |
A |
G |
5: 28,276,464 (GRCm39) |
N10S |
probably benign |
Het |
| Kcnh2 |
C |
A |
5: 24,531,568 (GRCm39) |
G448C |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,621,726 (GRCm39) |
S96L |
possibly damaging |
Het |
| Mapre3 |
A |
T |
5: 31,019,168 (GRCm39) |
N4I |
probably damaging |
Het |
| Mblac2 |
T |
A |
13: 81,859,860 (GRCm39) |
D70E |
probably benign |
Het |
| Mki67 |
T |
A |
7: 135,300,238 (GRCm39) |
K1599* |
probably null |
Het |
| Mpg |
A |
G |
11: 32,181,840 (GRCm39) |
I283V |
probably benign |
Het |
| Mrtfb |
G |
T |
16: 13,199,440 (GRCm39) |
E98* |
probably null |
Het |
| Myo1h |
T |
G |
5: 114,499,140 (GRCm39) |
V129G |
probably damaging |
Het |
| Nars1 |
A |
T |
18: 64,638,099 (GRCm39) |
V285E |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,464,742 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,089,456 (GRCm39) |
D5172G |
probably null |
Het |
| Npbwr1 |
T |
A |
1: 5,986,570 (GRCm39) |
S315C |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,733,953 (GRCm39) |
H360R |
possibly damaging |
Het |
| Nyx |
A |
G |
X: 13,352,974 (GRCm39) |
E276G |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,405,536 (GRCm39) |
M36K |
probably benign |
Het |
| Or1e1 |
G |
T |
11: 73,245,518 (GRCm39) |
C313F |
probably benign |
Het |
| Or2l13b |
A |
G |
16: 19,349,455 (GRCm39) |
Y72H |
probably benign |
Het |
| Or2w6 |
T |
C |
13: 21,842,642 (GRCm39) |
T284A |
possibly damaging |
Het |
| Or4c1 |
A |
G |
2: 89,133,160 (GRCm39) |
Y259H |
possibly damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,241 (GRCm39) |
V42E |
probably benign |
Het |
| Or5v1b |
C |
T |
17: 37,841,597 (GRCm39) |
S243F |
probably damaging |
Het |
| Or7e174 |
A |
T |
9: 20,012,165 (GRCm39) |
M37L |
probably benign |
Het |
| Or7g16 |
G |
A |
9: 18,726,801 (GRCm39) |
S263L |
probably benign |
Het |
| Or8g23 |
T |
A |
9: 38,971,729 (GRCm39) |
T78S |
probably damaging |
Het |
| Paf1 |
C |
A |
7: 28,095,193 (GRCm39) |
|
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,455,280 (GRCm39) |
D1050G |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,590,220 (GRCm39) |
S73P |
possibly damaging |
Het |
| Phtf1 |
G |
A |
3: 103,911,799 (GRCm39) |
|
probably null |
Het |
| Pik3c2b |
G |
T |
1: 132,994,282 (GRCm39) |
R82L |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,504,206 (GRCm39) |
L632P |
probably damaging |
Het |
| Plau |
G |
T |
14: 20,888,760 (GRCm39) |
|
probably null |
Het |
| Pld4 |
A |
T |
12: 112,734,923 (GRCm39) |
Q460L |
possibly damaging |
Het |
| Prdm2 |
T |
A |
4: 142,858,447 (GRCm39) |
Q1614H |
possibly damaging |
Het |
| Ptprq |
C |
T |
10: 107,502,407 (GRCm39) |
G837D |
probably damaging |
Het |
| Rad9b |
A |
G |
5: 122,477,842 (GRCm39) |
V178A |
possibly damaging |
Het |
| Rfc1 |
G |
T |
5: 65,468,397 (GRCm39) |
Y105* |
probably null |
Het |
| Sardh |
G |
A |
2: 27,118,351 (GRCm39) |
R460C |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,365,546 (GRCm39) |
R367L |
probably damaging |
Het |
| Sdcbp |
A |
T |
4: 6,386,536 (GRCm39) |
I137L |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,355,029 (GRCm39) |
V273A |
probably benign |
Het |
| Slc5a9 |
G |
T |
4: 111,737,423 (GRCm39) |
P612H |
probably benign |
Het |
| Slitrk4 |
TTGT |
TT |
X: 63,314,294 (GRCm39) |
|
probably null |
Het |
| Slitrk4 |
TG |
T |
X: 63,314,295 (GRCm39) |
|
probably null |
Het |
| Spata1 |
A |
T |
3: 146,199,438 (GRCm39) |
S9T |
probably benign |
Het |
| Syn3 |
T |
C |
10: 85,909,097 (GRCm39) |
T328A |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,939,546 (GRCm39) |
F501L |
probably damaging |
Het |
| Tekt5 |
T |
C |
16: 10,213,070 (GRCm39) |
I72V |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,343,821 (GRCm39) |
S1229P |
possibly damaging |
Het |
| Tlr6 |
T |
C |
5: 65,110,748 (GRCm39) |
S720G |
probably damaging |
Het |
| Tmem156 |
T |
A |
5: 65,237,294 (GRCm39) |
D87V |
probably damaging |
Het |
| Togaram1 |
T |
A |
12: 65,065,914 (GRCm39) |
D1639E |
probably damaging |
Het |
| Ucn2 |
A |
G |
9: 108,815,430 (GRCm39) |
K64R |
probably benign |
Het |
| Vmn2r57 |
T |
A |
7: 41,098,001 (GRCm39) |
Y22F |
probably benign |
Het |
| Vwa1 |
T |
C |
4: 155,855,307 (GRCm39) |
T269A |
probably benign |
Het |
| Washc5 |
A |
G |
15: 59,213,004 (GRCm39) |
L892P |
possibly damaging |
Het |
| Wdr20 |
T |
C |
12: 110,760,002 (GRCm39) |
V296A |
probably damaging |
Het |
| Xxylt1 |
A |
T |
16: 30,869,586 (GRCm39) |
H171Q |
probably damaging |
Het |
| Yju2 |
C |
T |
17: 56,271,543 (GRCm39) |
Q155* |
probably null |
Het |
| Zfp275 |
A |
G |
X: 72,396,841 (GRCm39) |
T118A |
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 |
|
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 |
|
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'- TTCTCCAGTGAGTTCTCTAGATGAG -3'
(R):5'- TACAGGTCAGACACTTGGGC -3'
Sequencing Primer
(F):5'- AGGTAGTAAAAGAGAGATGCTGGTTG -3'
(R):5'- AGACACTTGGGCCCGCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation