Incidental Mutation 'R4876:Mybpc1'
| ID |
376895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc1
|
| Ensembl Gene |
ENSMUSG00000020061 |
| Gene Name |
myosin binding protein C, slow-type |
| Synonyms |
8030451F13Rik, Slow-type C-protein |
| MMRRC Submission |
042485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
R4876 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88518279-88605152 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88536424 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 781
(N781K)
|
| 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: N767K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: N767K
| 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: N781K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: N781K
| 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 |
noncoding transcript
Transcript: ENSMUST00000148205
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000122472
Gene: ENSMUSG00000020061
AA Change: N19K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YUW|A
|
2 |
52 |
2e-25 |
PDB |
|
low complexity region
|
53 |
65 |
N/A |
INTRINSIC |
|
IG
|
68 |
151 |
9.06e-2 |
SMART |
|
FN3
|
154 |
236 |
2.06e-12 |
SMART |
|
IGc2
|
281 |
348 |
1.88e-8 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000119024
Gene: ENSMUSG00000020061
AA Change: N424K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
99% (97/98) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190002N15Rik |
C |
T |
9: 94,537,577 (GRCm38) |
R100H |
probably damaging |
Het |
| 4930562C15Rik |
T |
C |
16: 4,849,672 (GRCm38) |
F309S |
unknown |
Het |
| 9530053A07Rik |
A |
T |
7: 28,142,800 (GRCm38) |
|
probably benign |
Het |
| A630001G21Rik |
C |
T |
1: 85,719,040 (GRCm38) |
V167M |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm38) |
G601S |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 89,112,835 (GRCm38) |
F138L |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,906,747 (GRCm38) |
V519A |
possibly damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,498,239 (GRCm38) |
Y558* |
probably null |
Het |
| Atxn3 |
T |
A |
12: 101,948,379 (GRCm38) |
S29C |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,070,160 (GRCm38) |
|
probably benign |
Het |
| BC052040 |
A |
C |
2: 115,670,058 (GRCm38) |
H159P |
probably damaging |
Het |
| Bicral |
A |
T |
17: 46,825,576 (GRCm38) |
I236N |
probably damaging |
Het |
| Cabcoco1 |
A |
G |
10: 68,541,769 (GRCm38) |
V30A |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,531,021 (GRCm38) |
M1V |
probably null |
Het |
| Ccdc153 |
T |
C |
9: 44,241,008 (GRCm38) |
M1T |
probably null |
Het |
| Ccnf |
A |
T |
17: 24,230,337 (GRCm38) |
V489D |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,787,706 (GRCm38) |
T448A |
probably benign |
Het |
| Cpa4 |
G |
A |
6: 30,590,815 (GRCm38) |
D371N |
probably benign |
Het |
| Csl |
T |
A |
10: 99,758,540 (GRCm38) |
Y221F |
possibly damaging |
Het |
| Dalrd3 |
T |
C |
9: 108,571,436 (GRCm38) |
|
probably benign |
Het |
| Dennd4a |
T |
A |
9: 64,896,590 (GRCm38) |
N1070K |
probably benign |
Het |
| Dmwd |
A |
T |
7: 19,080,547 (GRCm38) |
D374V |
probably damaging |
Het |
| Eea1 |
G |
T |
10: 95,995,613 (GRCm38) |
A189S |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,812,312 (GRCm38) |
V1629A |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,771,639 (GRCm38) |
D1075G |
unknown |
Het |
| Fsip2 |
A |
G |
2: 82,974,858 (GRCm38) |
N507S |
possibly damaging |
Het |
| Gabra5 |
T |
G |
7: 57,413,665 (GRCm38) |
E337A |
probably damaging |
Het |
| Gsg1l |
A |
G |
7: 125,891,669 (GRCm38) |
Y288H |
probably benign |
Het |
| H2-M11 |
A |
T |
17: 36,547,509 (GRCm38) |
D65V |
probably benign |
Het |
| Hmgxb3 |
A |
T |
18: 61,146,534 (GRCm38) |
C736S |
possibly damaging |
Het |
| Hsd3b3 |
A |
T |
3: 98,742,644 (GRCm38) |
I121N |
probably damaging |
Het |
| Ikbke |
GCC |
G |
1: 131,275,267 (GRCm38) |
|
probably null |
Het |
| Il16 |
A |
C |
7: 83,673,094 (GRCm38) |
S338A |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,482,906 (GRCm38) |
A2054T |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,655,470 (GRCm38) |
I385F |
probably damaging |
Het |
| Limch1 |
G |
A |
5: 66,881,927 (GRCm38) |
V66I |
possibly damaging |
Het |
| Lmod2 |
A |
G |
6: 24,604,279 (GRCm38) |
R418G |
probably benign |
Het |
| Ly6g6c |
A |
T |
17: 35,069,440 (GRCm38) |
D96V |
probably damaging |
Het |
| Map2k2 |
G |
A |
10: 81,115,113 (GRCm38) |
V131M |
probably damaging |
Het |
| Mapk9 |
T |
C |
11: 49,854,325 (GRCm38) |
V22A |
probably damaging |
Het |
| Mettl2 |
T |
C |
11: 105,129,068 (GRCm38) |
I177T |
probably damaging |
Het |
| Mob4 |
C |
T |
1: 55,152,836 (GRCm38) |
|
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,077,410 (GRCm38) |
T707A |
probably damaging |
Het |
| Ncam2 |
G |
A |
16: 81,490,346 (GRCm38) |
A383T |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 46,066,491 (GRCm38) |
S761P |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 25,691,134 (GRCm38) |
S921T |
possibly damaging |
Het |
| Olfr268-ps1 |
C |
G |
2: 111,844,695 (GRCm38) |
|
noncoding transcript |
Het |
| Olfr934 |
A |
T |
9: 38,982,626 (GRCm38) |
C139* |
probably null |
Het |
| Olfr985 |
C |
T |
9: 40,127,218 (GRCm38) |
V248I |
probably damaging |
Het |
| Omp |
A |
T |
7: 98,145,026 (GRCm38) |
D131E |
probably benign |
Het |
| Pard3 |
T |
C |
8: 127,561,469 (GRCm38) |
|
probably benign |
Het |
| Parg |
A |
G |
14: 32,271,668 (GRCm38) |
T286A |
probably damaging |
Het |
| Parp1 |
T |
A |
1: 180,569,035 (GRCm38) |
M1K |
probably null |
Het |
| Pclo |
T |
A |
5: 14,811,680 (GRCm38) |
S4882R |
unknown |
Het |
| Pcnx2 |
C |
T |
8: 125,772,108 (GRCm38) |
E1551K |
probably damaging |
Het |
| Pcyox1l |
A |
G |
18: 61,699,494 (GRCm38) |
Y161H |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,300,804 (GRCm38) |
C721* |
probably null |
Het |
| Piwil4 |
T |
C |
9: 14,740,465 (GRCm38) |
D90G |
probably benign |
Het |
| Plxdc2 |
T |
A |
2: 16,703,318 (GRCm38) |
C306S |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,643,775 (GRCm38) |
F6I |
probably benign |
Het |
| Prkaa1 |
T |
C |
15: 5,174,405 (GRCm38) |
M265T |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,214,200 (GRCm38) |
V1230A |
probably benign |
Het |
| Rfx2 |
T |
C |
17: 56,784,706 (GRCm38) |
E329G |
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,435,919 (GRCm38) |
I322M |
probably damaging |
Het |
| Scly |
T |
A |
1: 91,320,128 (GRCm38) |
N399K |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,586,361 (GRCm38) |
|
probably null |
Het |
| Sephs2 |
A |
T |
7: 127,273,047 (GRCm38) |
Y291* |
probably null |
Het |
| Slc45a3 |
T |
C |
1: 131,981,547 (GRCm38) |
I494T |
possibly damaging |
Het |
| Slc6a21 |
C |
A |
7: 45,280,111 (GRCm38) |
Y76* |
probably null |
Het |
| Slfn14 |
T |
A |
11: 83,276,272 (GRCm38) |
I806L |
possibly damaging |
Het |
| Slfn4 |
T |
A |
11: 83,187,018 (GRCm38) |
S211T |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,372,152 (GRCm38) |
V1624A |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,071,184 (GRCm38) |
M567K |
probably damaging |
Het |
| Tmem121 |
A |
T |
12: 113,188,728 (GRCm38) |
M189L |
probably benign |
Het |
| Tmem201 |
A |
G |
4: 149,722,270 (GRCm38) |
S444P |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,973,186 (GRCm38) |
V744A |
probably benign |
Het |
| Tnrc18 |
G |
A |
5: 142,731,625 (GRCm38) |
S2358F |
unknown |
Het |
| Ubash3b |
A |
G |
9: 41,018,109 (GRCm38) |
V404A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,749,539 (GRCm38) |
C1127S |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 54,997,229 (GRCm38) |
V253A |
probably benign |
Het |
| Vmn1r-ps123 |
C |
T |
13: 22,996,365 (GRCm38) |
|
noncoding transcript |
Het |
| Wdr74 |
A |
G |
19: 8,739,485 (GRCm38) |
E253G |
possibly damaging |
Het |
| Wwox |
T |
C |
8: 114,448,248 (GRCm38) |
Y107H |
probably damaging |
Het |
| Zdhhc22 |
A |
T |
12: 86,988,238 (GRCm38) |
Y147N |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 119,788,955 (GRCm38) |
H44R |
possibly damaging |
Het |
| Zfp235 |
A |
G |
7: 24,140,959 (GRCm38) |
T268A |
probably benign |
Het |
| Zfp280d |
T |
C |
9: 72,298,858 (GRCm38) |
|
probably benign |
Het |
| Zfp358 |
T |
C |
8: 3,496,170 (GRCm38) |
S251P |
probably damaging |
Het |
|
| Other mutations in Mybpc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Mybpc1
|
APN |
10 |
88,549,262 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00577:Mybpc1
|
APN |
10 |
88,536,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00703:Mybpc1
|
APN |
10 |
88,525,108 (GRCm38) |
splice site |
probably null |
|
|
IGL00964:Mybpc1
|
APN |
10 |
88,555,742 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01738:Mybpc1
|
APN |
10 |
88,570,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01978:Mybpc1
|
APN |
10 |
88,531,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02255:Mybpc1
|
APN |
10 |
88,536,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02997:Mybpc1
|
APN |
10 |
88,526,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0098:Mybpc1
|
UTSW |
10 |
88,529,564 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0240:Mybpc1
|
UTSW |
10 |
88,555,738 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R0240:Mybpc1
|
UTSW |
10 |
88,555,738 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R0449:Mybpc1
|
UTSW |
10 |
88,540,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0879:Mybpc1
|
UTSW |
10 |
88,571,516 (GRCm38) |
splice site |
probably benign |
|
|
R1321:Mybpc1
|
UTSW |
10 |
88,570,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1321:Mybpc1
|
UTSW |
10 |
88,529,541 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1562:Mybpc1
|
UTSW |
10 |
88,553,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1783:Mybpc1
|
UTSW |
10 |
88,570,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1803:Mybpc1
|
UTSW |
10 |
88,553,295 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1962:Mybpc1
|
UTSW |
10 |
88,548,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1972:Mybpc1
|
UTSW |
10 |
88,551,542 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2006:Mybpc1
|
UTSW |
10 |
88,546,059 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2125:Mybpc1
|
UTSW |
10 |
88,573,437 (GRCm38) |
nonsense |
probably null |
|
|
R2129:Mybpc1
|
UTSW |
10 |
88,551,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2163:Mybpc1
|
UTSW |
10 |
88,540,942 (GRCm38) |
splice site |
probably benign |
|
|
R2200:Mybpc1
|
UTSW |
10 |
88,555,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2219:Mybpc1
|
UTSW |
10 |
88,555,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2270:Mybpc1
|
UTSW |
10 |
88,551,407 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2961:Mybpc1
|
UTSW |
10 |
88,531,779 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3767:Mybpc1
|
UTSW |
10 |
88,570,659 (GRCm38) |
splice site |
probably null |
|
|
R4032:Mybpc1
|
UTSW |
10 |
88,529,564 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4226:Mybpc1
|
UTSW |
10 |
88,573,525 (GRCm38) |
nonsense |
probably null |
|
|
R4821:Mybpc1
|
UTSW |
10 |
88,548,865 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4876:Mybpc1
|
UTSW |
10 |
88,522,991 (GRCm38) |
missense |
probably benign |
|
|
R4878:Mybpc1
|
UTSW |
10 |
88,551,430 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4910:Mybpc1
|
UTSW |
10 |
88,555,724 (GRCm38) |
nonsense |
probably null |
|
|
R4913:Mybpc1
|
UTSW |
10 |
88,553,254 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4964:Mybpc1
|
UTSW |
10 |
88,555,663 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5023:Mybpc1
|
UTSW |
10 |
88,543,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5098:Mybpc1
|
UTSW |
10 |
88,546,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5196:Mybpc1
|
UTSW |
10 |
88,536,351 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5344:Mybpc1
|
UTSW |
10 |
88,570,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5399:Mybpc1
|
UTSW |
10 |
88,523,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5538:Mybpc1
|
UTSW |
10 |
88,546,029 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5808:Mybpc1
|
UTSW |
10 |
88,570,566 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5970:Mybpc1
|
UTSW |
10 |
88,542,456 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6324:Mybpc1
|
UTSW |
10 |
88,568,619 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R6433:Mybpc1
|
UTSW |
10 |
88,560,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6441:Mybpc1
|
UTSW |
10 |
88,553,277 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6648:Mybpc1
|
UTSW |
10 |
88,522,999 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6844:Mybpc1
|
UTSW |
10 |
88,536,381 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6931:Mybpc1
|
UTSW |
10 |
88,542,330 (GRCm38) |
nonsense |
probably null |
|
|
R6972:Mybpc1
|
UTSW |
10 |
88,560,361 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6973:Mybpc1
|
UTSW |
10 |
88,560,361 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6978:Mybpc1
|
UTSW |
10 |
88,523,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7007:Mybpc1
|
UTSW |
10 |
88,553,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7019:Mybpc1
|
UTSW |
10 |
88,543,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7407:Mybpc1
|
UTSW |
10 |
88,549,347 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7442:Mybpc1
|
UTSW |
10 |
88,526,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7577:Mybpc1
|
UTSW |
10 |
88,549,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7660:Mybpc1
|
UTSW |
10 |
88,548,854 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7768:Mybpc1
|
UTSW |
10 |
88,542,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7818:Mybpc1
|
UTSW |
10 |
88,558,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8171:Mybpc1
|
UTSW |
10 |
88,523,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8195:Mybpc1
|
UTSW |
10 |
88,558,691 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R8241:Mybpc1
|
UTSW |
10 |
88,536,424 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8360:Mybpc1
|
UTSW |
10 |
88,573,497 (GRCm38) |
nonsense |
probably null |
|
|
R8494:Mybpc1
|
UTSW |
10 |
88,526,429 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8849:Mybpc1
|
UTSW |
10 |
88,571,585 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8936:Mybpc1
|
UTSW |
10 |
88,558,575 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9031:Mybpc1
|
UTSW |
10 |
88,523,044 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9061:Mybpc1
|
UTSW |
10 |
88,555,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9081:Mybpc1
|
UTSW |
10 |
88,553,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9172:Mybpc1
|
UTSW |
10 |
88,543,753 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9323:Mybpc1
|
UTSW |
10 |
88,524,967 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9460:Mybpc1
|
UTSW |
10 |
88,536,335 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9488:Mybpc1
|
UTSW |
10 |
88,543,762 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R9757:Mybpc1
|
UTSW |
10 |
88,536,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9796:Mybpc1
|
UTSW |
10 |
88,570,635 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
Z1176:Mybpc1
|
UTSW |
10 |
88,560,327 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Mybpc1
|
UTSW |
10 |
88,573,437 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTAGGATGATGCCCATTTGG -3'
(R):5'- ACCCTGTTCTTTCCAAAGGATC -3'
Sequencing Primer
(F):5'- TTTGAGAGGGATCCACTAGCC -3'
(R):5'- TGTTCTTTCCAAAGGATCTAAGTATG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation