Incidental Mutation 'R4964:Mybpc1'
| ID |
383806 |
| 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 |
042561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.837)
|
| Stock # |
R4964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88391525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 324
(Y324F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
| AlphaFold |
A0A571BEN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119185
AA Change: Y310F
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: Y310F
| 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 benign
Transcript: ENSMUST00000121629
AA Change: Y324F
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: Y324F
| 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 benign
Transcript: ENSMUST00000156573
|
| SMART Domains |
Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
| 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 |
0.1083 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
98% (100/102) |
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,610,757 (GRCm39) |
|
probably benign |
Het |
| 9030619P08Rik |
T |
A |
15: 75,303,267 (GRCm39) |
|
noncoding transcript |
Het |
| A430033K04Rik |
G |
T |
5: 138,645,119 (GRCm39) |
E335* |
probably null |
Het |
| Abcb1b |
A |
T |
5: 8,862,671 (GRCm39) |
T118S |
probably benign |
Het |
| Abcb1b |
T |
A |
5: 8,911,602 (GRCm39) |
I133N |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,747,080 (GRCm39) |
N166D |
probably damaging |
Het |
| Adam5 |
T |
C |
8: 25,276,248 (GRCm39) |
Y473C |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,236,917 (GRCm39) |
K242E |
possibly damaging |
Het |
| Apc2 |
A |
C |
10: 80,149,841 (GRCm39) |
I1603L |
probably benign |
Het |
| Arhgef25 |
T |
A |
10: 127,021,472 (GRCm39) |
I249F |
probably damaging |
Het |
| Birc2 |
T |
C |
9: 7,860,553 (GRCm39) |
H255R |
probably benign |
Het |
| Cables1 |
A |
T |
18: 12,074,334 (GRCm39) |
R486W |
possibly damaging |
Het |
| Caskin1 |
A |
T |
17: 24,726,135 (GRCm39) |
D1414V |
probably damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,227,619 (GRCm39) |
S55P |
probably damaging |
Het |
| Ccdc57 |
A |
T |
11: 120,751,978 (GRCm39) |
S868T |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,449,516 (GRCm39) |
|
probably null |
Het |
| Cdc34b |
A |
T |
11: 94,633,087 (GRCm39) |
I96F |
probably damaging |
Het |
| Ctnnd1 |
A |
G |
2: 84,452,417 (GRCm39) |
F69L |
possibly damaging |
Het |
| Cul9 |
C |
T |
17: 46,849,451 (GRCm39) |
D565N |
probably damaging |
Het |
| Cxcl16 |
A |
G |
11: 70,346,519 (GRCm39) |
V208A |
probably benign |
Het |
| Cyb5rl |
A |
G |
4: 106,926,329 (GRCm39) |
|
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,493,823 (GRCm39) |
K54E |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,432,372 (GRCm39) |
V885I |
probably damaging |
Het |
| Dlg1 |
C |
T |
16: 31,573,626 (GRCm39) |
T9I |
probably benign |
Het |
| Dnase1 |
T |
C |
16: 3,855,771 (GRCm39) |
|
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,873,690 (GRCm39) |
M114T |
probably damaging |
Het |
| Egfr |
A |
T |
11: 16,858,949 (GRCm39) |
D976V |
probably damaging |
Het |
| Eif2s1 |
T |
A |
12: 78,926,785 (GRCm39) |
N178K |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,395,155 (GRCm39) |
H591R |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 59,152,945 (GRCm39) |
|
probably benign |
Het |
| Glipr1l2 |
T |
A |
10: 111,942,904 (GRCm39) |
I253K |
possibly damaging |
Het |
| Gnat1 |
A |
T |
9: 107,554,433 (GRCm39) |
M115K |
probably benign |
Het |
| Gtsf2 |
T |
C |
15: 103,352,755 (GRCm39) |
E88G |
possibly damaging |
Het |
| Hormad1 |
T |
A |
3: 95,492,531 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,217,305 (GRCm39) |
I1398F |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,301,974 (GRCm39) |
V483A |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,971,385 (GRCm39) |
F278L |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,939,911 (GRCm39) |
L593P |
probably damaging |
Het |
| Krt7 |
C |
T |
15: 101,311,853 (GRCm39) |
R104C |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,682,427 (GRCm39) |
H16L |
probably benign |
Het |
| Mef2d |
T |
A |
3: 88,075,404 (GRCm39) |
I422N |
probably damaging |
Het |
| Mipep |
G |
T |
14: 61,022,231 (GRCm39) |
R32L |
probably damaging |
Het |
| Mon1a |
A |
G |
9: 107,779,850 (GRCm39) |
E473G |
probably damaging |
Het |
| Mterf2 |
T |
A |
10: 84,955,979 (GRCm39) |
Q215L |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,023,818 (GRCm39) |
E1512G |
probably damaging |
Het |
| Myo1g |
A |
T |
11: 6,465,976 (GRCm39) |
F370I |
probably damaging |
Het |
| Myo5c |
T |
A |
9: 75,204,791 (GRCm39) |
M1548K |
possibly damaging |
Het |
| Myof |
T |
A |
19: 37,924,300 (GRCm39) |
I1306F |
probably damaging |
Het |
| Nle1 |
A |
G |
11: 82,799,018 (GRCm39) |
F21S |
probably damaging |
Het |
| Noc2l |
C |
G |
4: 156,330,368 (GRCm39) |
D513E |
probably damaging |
Het |
| Or1e17 |
A |
T |
11: 73,832,028 (GRCm39) |
I319F |
probably benign |
Het |
| Or2z2 |
A |
G |
11: 58,346,733 (GRCm39) |
V14A |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,471,670 (GRCm39) |
*841R |
probably null |
Het |
| Patz1 |
A |
G |
11: 3,257,720 (GRCm39) |
D573G |
probably damaging |
Het |
| Pcdhga3 |
A |
G |
18: 37,809,154 (GRCm39) |
T536A |
probably benign |
Het |
| Pde6h |
C |
T |
6: 136,938,201 (GRCm39) |
T58I |
possibly damaging |
Het |
| Pip5k1a |
T |
C |
3: 94,978,094 (GRCm39) |
I275V |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,805,042 (GRCm39) |
|
probably null |
Het |
| Polr1e |
G |
A |
4: 45,029,429 (GRCm39) |
A297T |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Rbm34 |
T |
C |
8: 127,678,087 (GRCm39) |
D269G |
possibly damaging |
Het |
| Rnf122 |
T |
A |
8: 31,602,177 (GRCm39) |
M1K |
probably null |
Het |
| Rnf32 |
G |
A |
5: 29,403,576 (GRCm39) |
R7H |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,729,497 (GRCm39) |
E2375G |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,848,878 (GRCm39) |
T361A |
probably benign |
Het |
| Serpina3m |
T |
C |
12: 104,355,360 (GRCm39) |
I9T |
probably benign |
Het |
| Serpinb9 |
T |
A |
13: 33,192,847 (GRCm39) |
W135R |
probably damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,038,871 (GRCm39) |
N804S |
probably benign |
Het |
| Shroom1 |
A |
G |
11: 53,355,999 (GRCm39) |
T350A |
probably benign |
Het |
| Slc24a5 |
G |
A |
2: 124,910,188 (GRCm39) |
V30I |
probably benign |
Het |
| Slc38a8 |
A |
T |
8: 120,209,423 (GRCm39) |
|
probably null |
Het |
| Smarcd1 |
A |
G |
15: 99,605,862 (GRCm39) |
S378G |
possibly damaging |
Het |
| Stx1b |
T |
C |
7: 127,407,093 (GRCm39) |
I55V |
probably damaging |
Het |
| Sult2a8 |
A |
G |
7: 14,159,457 (GRCm39) |
V54A |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,330,507 (GRCm39) |
S264P |
probably damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,695,610 (GRCm39) |
Y943N |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,801,038 (GRCm39) |
I114T |
probably benign |
Het |
| Tmco6 |
T |
C |
18: 36,868,555 (GRCm39) |
|
probably null |
Het |
| Treh |
T |
C |
9: 44,593,945 (GRCm39) |
L144P |
probably damaging |
Het |
| Trmt2a |
T |
A |
16: 18,067,418 (GRCm39) |
C30* |
probably null |
Het |
| Ttbk2 |
A |
T |
2: 120,603,758 (GRCm39) |
F258L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,785,380 (GRCm39) |
D665G |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,992,023 (GRCm39) |
|
probably null |
Het |
| Uroc1 |
T |
C |
6: 90,322,376 (GRCm39) |
L300P |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,379,491 (GRCm39) |
I426T |
possibly damaging |
Het |
| Xbp1 |
A |
G |
11: 5,471,125 (GRCm39) |
E44G |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,816,942 (GRCm39) |
V119D |
probably damaging |
Het |
| Zfp457 |
T |
A |
13: 67,441,342 (GRCm39) |
H315L |
probably damaging |
Het |
| Zfp518a |
T |
A |
19: 40,904,295 (GRCm39) |
V1408D |
possibly damaging |
Het |
| Zfp52 |
T |
G |
17: 21,780,665 (GRCm39) |
L171R |
probably benign |
Het |
| Zfp712 |
C |
T |
13: 67,188,676 (GRCm39) |
C617Y |
probably damaging |
Het |
| Zfp770 |
T |
C |
2: 114,027,868 (GRCm39) |
N67S |
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 |
|
|
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'- TGTAATGGACCTGCAATACTGAGC -3'
(R):5'- ATCACAGCTTTATCCTTGATGCTTG -3'
Sequencing Primer
(F):5'- TGGACCTGCAATACTGAGCCAATC -3'
(R):5'- CATCTCAAACTATGCCTTCT -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation