Incidental Mutation 'R4876:Mybpc1'
| ID |
376894 |
| 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 |
042485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R4876 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88358853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1113
(I1113V)
|
| 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: I1099V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: I1099V
| 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: I1113V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: I1113V
| 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: ENSMUST00000124144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148205
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153964
AA Change: I351V
|
| SMART Domains |
Protein: ENSMUSP00000122472
Gene: ENSMUSG00000020061
AA Change: I351V
| 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 |
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 |
0.0617 |
| 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 |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| A630001G21Rik |
C |
T |
1: 85,646,761 (GRCm39) |
V167M |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,948,697 (GRCm39) |
F138L |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,883,681 (GRCm39) |
V519A |
possibly damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,631,310 (GRCm39) |
Y558* |
probably null |
Het |
| Atxn3 |
T |
A |
12: 101,914,638 (GRCm39) |
S29C |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,796,788 (GRCm39) |
|
probably benign |
Het |
| Bicral |
A |
T |
17: 47,136,502 (GRCm39) |
I236N |
probably damaging |
Het |
| Cabcoco1 |
A |
G |
10: 68,377,599 (GRCm39) |
V30A |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,684,497 (GRCm39) |
M1V |
probably null |
Het |
| Ccdc153 |
T |
C |
9: 44,152,305 (GRCm39) |
M1T |
probably null |
Het |
| Ccnf |
A |
T |
17: 24,449,311 (GRCm39) |
V489D |
probably damaging |
Het |
| Cdin1 |
A |
C |
2: 115,500,539 (GRCm39) |
H159P |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,935,520 (GRCm39) |
T448A |
probably benign |
Het |
| Cpa4 |
G |
A |
6: 30,590,814 (GRCm39) |
D371N |
probably benign |
Het |
| Csl |
T |
A |
10: 99,594,402 (GRCm39) |
Y221F |
possibly damaging |
Het |
| Dalrd3 |
T |
C |
9: 108,448,635 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
A |
9: 64,803,872 (GRCm39) |
N1070K |
probably benign |
Het |
| Dipk2a |
C |
T |
9: 94,419,630 (GRCm39) |
R100H |
probably damaging |
Het |
| Dmwd |
A |
T |
7: 18,814,472 (GRCm39) |
D374V |
probably damaging |
Het |
| Eea1 |
G |
T |
10: 95,831,475 (GRCm39) |
A189S |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,703,138 (GRCm39) |
V1629A |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,842,225 (GRCm39) |
|
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,990,471 (GRCm39) |
D1075G |
unknown |
Het |
| Fsip2 |
A |
G |
2: 82,805,202 (GRCm39) |
N507S |
possibly damaging |
Het |
| Gabra5 |
T |
G |
7: 57,063,413 (GRCm39) |
E337A |
probably damaging |
Het |
| Gsg1l |
A |
G |
7: 125,490,841 (GRCm39) |
Y288H |
probably benign |
Het |
| H2-M11 |
A |
T |
17: 36,858,401 (GRCm39) |
D65V |
probably benign |
Het |
| Hmgxb3 |
A |
T |
18: 61,279,606 (GRCm39) |
C736S |
possibly damaging |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,960 (GRCm39) |
I121N |
probably damaging |
Het |
| Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
| Il16 |
A |
C |
7: 83,322,302 (GRCm39) |
S338A |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,459,867 (GRCm39) |
A2054T |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,474,220 (GRCm39) |
I385F |
probably damaging |
Het |
| Limch1 |
G |
A |
5: 67,039,270 (GRCm39) |
V66I |
possibly damaging |
Het |
| Lmod2 |
A |
G |
6: 24,604,278 (GRCm39) |
R418G |
probably benign |
Het |
| Ly6g6c |
A |
T |
17: 35,288,416 (GRCm39) |
D96V |
probably damaging |
Het |
| Map2k2 |
G |
A |
10: 80,950,947 (GRCm39) |
V131M |
probably damaging |
Het |
| Mapk9 |
T |
C |
11: 49,745,152 (GRCm39) |
V22A |
probably damaging |
Het |
| Mettl2 |
T |
C |
11: 105,019,894 (GRCm39) |
I177T |
probably damaging |
Het |
| Mob4 |
C |
T |
1: 55,191,995 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,384,405 (GRCm39) |
T707A |
probably damaging |
Het |
| Ncam2 |
G |
A |
16: 81,287,234 (GRCm39) |
A383T |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,715,915 (GRCm39) |
S761P |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,181,161 (GRCm39) |
S921T |
possibly damaging |
Het |
| Omp |
A |
T |
7: 97,794,233 (GRCm39) |
D131E |
probably benign |
Het |
| Or10d1c |
A |
T |
9: 38,893,922 (GRCm39) |
C139* |
probably null |
Het |
| Or4f7d-ps1 |
C |
G |
2: 111,675,040 (GRCm39) |
|
noncoding transcript |
Het |
| Or8d4 |
C |
T |
9: 40,038,514 (GRCm39) |
V248I |
probably damaging |
Het |
| Pard3 |
T |
C |
8: 128,287,950 (GRCm39) |
|
probably benign |
Het |
| Parg |
A |
G |
14: 31,993,625 (GRCm39) |
T286A |
probably damaging |
Het |
| Parp1 |
T |
A |
1: 180,396,600 (GRCm39) |
M1K |
probably null |
Het |
| Pclo |
T |
A |
5: 14,861,694 (GRCm39) |
S4882R |
unknown |
Het |
| Pcnx2 |
C |
T |
8: 126,498,847 (GRCm39) |
E1551K |
probably damaging |
Het |
| Pcyox1l |
A |
G |
18: 61,832,565 (GRCm39) |
Y161H |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,289,236 (GRCm39) |
C721* |
probably null |
Het |
| Piwil4 |
T |
C |
9: 14,651,761 (GRCm39) |
D90G |
probably benign |
Het |
| Plxdc2 |
T |
A |
2: 16,708,129 (GRCm39) |
C306S |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,083 (GRCm39) |
F6I |
probably benign |
Het |
| Prkaa1 |
T |
C |
15: 5,203,886 (GRCm39) |
M265T |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,104,212 (GRCm39) |
V1230A |
probably benign |
Het |
| Rfx2 |
T |
C |
17: 57,091,706 (GRCm39) |
E329G |
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,413,636 (GRCm39) |
I322M |
probably damaging |
Het |
| Scly |
T |
A |
1: 91,247,850 (GRCm39) |
N399K |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,428,281 (GRCm39) |
|
probably null |
Het |
| Sephs2 |
A |
T |
7: 126,872,219 (GRCm39) |
Y291* |
probably null |
Het |
| Slc45a3 |
T |
C |
1: 131,909,285 (GRCm39) |
I494T |
possibly damaging |
Het |
| Slc6a21 |
C |
A |
7: 44,929,535 (GRCm39) |
Y76* |
probably null |
Het |
| Slfn14 |
T |
A |
11: 83,167,098 (GRCm39) |
I806L |
possibly damaging |
Het |
| Slfn4 |
T |
A |
11: 83,077,844 (GRCm39) |
S211T |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,071,577 (GRCm39) |
V1624A |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,523,834 (GRCm39) |
M567K |
probably damaging |
Het |
| Tmem121 |
A |
T |
12: 113,152,348 (GRCm39) |
M189L |
probably benign |
Het |
| Tmem201 |
A |
G |
4: 149,806,727 (GRCm39) |
S444P |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,800,751 (GRCm39) |
V744A |
probably benign |
Het |
| Tnrc18 |
G |
A |
5: 142,717,380 (GRCm39) |
S2358F |
unknown |
Het |
| Ubash3b |
A |
G |
9: 40,929,405 (GRCm39) |
V404A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,656,821 (GRCm39) |
C1127S |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,145,042 (GRCm39) |
V253A |
probably benign |
Het |
| Vmn1r-ps123 |
C |
T |
13: 23,180,535 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr74 |
A |
G |
19: 8,716,849 (GRCm39) |
E253G |
possibly damaging |
Het |
| Wwox |
T |
C |
8: 115,174,988 (GRCm39) |
Y107H |
probably damaging |
Het |
| Zdhhc22 |
A |
T |
12: 87,035,012 (GRCm39) |
Y147N |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,250,491 (GRCm39) |
H44R |
possibly damaging |
Het |
| Zfp235 |
A |
G |
7: 23,840,384 (GRCm39) |
T268A |
probably benign |
Het |
| Zfp280d |
T |
C |
9: 72,206,140 (GRCm39) |
|
probably benign |
Het |
| Zfp358 |
T |
C |
8: 3,546,170 (GRCm39) |
S251P |
probably 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 |
|
|
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 |
|
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'- TCTTAACAAGCATGAATACAGAGGC -3'
(R):5'- ACTGCTGGGTCTCCTAATATGG -3'
Sequencing Primer
(F):5'- CAGAGGTGTCCTGTCTGTCC -3'
(R):5'- ACATCGTAGGCTTTGACTTGAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation