Incidental Mutation 'R5026:Piezo1'
ID |
391359 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piezo1
|
Ensembl Gene |
ENSMUSG00000014444 |
Gene Name |
piezo-type mechanosensitive ion channel component 1 |
Synonyms |
Fam38a, Piezo1 |
MMRRC Submission |
042617-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5026 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
123208437-123278068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 123213557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1779
(D1779E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067252]
[ENSMUST00000116412]
[ENSMUST00000127664]
[ENSMUST00000128383]
[ENSMUST00000156333]
[ENSMUST00000151855]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067252
AA Change: D1779E
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: D1779E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
transmembrane domain
|
29 |
46 |
N/A |
INTRINSIC |
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
transmembrane domain
|
121 |
143 |
N/A |
INTRINSIC |
low complexity region
|
156 |
169 |
N/A |
INTRINSIC |
transmembrane domain
|
211 |
233 |
N/A |
INTRINSIC |
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
transmembrane domain
|
316 |
333 |
N/A |
INTRINSIC |
low complexity region
|
353 |
368 |
N/A |
INTRINSIC |
low complexity region
|
396 |
408 |
N/A |
INTRINSIC |
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
internal_repeat_1
|
541 |
658 |
5.31e-5 |
PROSPERO |
transmembrane domain
|
685 |
707 |
N/A |
INTRINSIC |
low complexity region
|
738 |
753 |
N/A |
INTRINSIC |
transmembrane domain
|
817 |
839 |
N/A |
INTRINSIC |
transmembrane domain
|
844 |
866 |
N/A |
INTRINSIC |
low complexity region
|
940 |
952 |
N/A |
INTRINSIC |
transmembrane domain
|
979 |
1001 |
N/A |
INTRINSIC |
transmembrane domain
|
1005 |
1022 |
N/A |
INTRINSIC |
transmembrane domain
|
1035 |
1057 |
N/A |
INTRINSIC |
transmembrane domain
|
1154 |
1171 |
N/A |
INTRINSIC |
transmembrane domain
|
1178 |
1197 |
N/A |
INTRINSIC |
Pfam:PIEZO
|
1229 |
1458 |
1.1e-97 |
PFAM |
low complexity region
|
1475 |
1486 |
N/A |
INTRINSIC |
internal_repeat_1
|
1646 |
1752 |
5.31e-5 |
PROSPERO |
low complexity region
|
1905 |
1921 |
N/A |
INTRINSIC |
transmembrane domain
|
1976 |
1998 |
N/A |
INTRINSIC |
transmembrane domain
|
2018 |
2038 |
N/A |
INTRINSIC |
transmembrane domain
|
2045 |
2067 |
N/A |
INTRINSIC |
transmembrane domain
|
2077 |
2094 |
N/A |
INTRINSIC |
Pfam:Piezo_RRas_bdg
|
2126 |
2544 |
3.2e-157 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116412
|
SMART Domains |
Protein: ENSMUSP00000112113 Gene: ENSMUSG00000049482
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
SCOP:d1sur__
|
47 |
153 |
1e-3 |
SMART |
Pfam:CTU2
|
347 |
470 |
2.3e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123671
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126553
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128383
|
SMART Domains |
Protein: ENSMUSP00000116194 Gene: ENSMUSG00000014444
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
transmembrane domain
|
169 |
188 |
N/A |
INTRINSIC |
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
transmembrane domain
|
247 |
269 |
N/A |
INTRINSIC |
low complexity region
|
300 |
315 |
N/A |
INTRINSIC |
transmembrane domain
|
379 |
401 |
N/A |
INTRINSIC |
transmembrane domain
|
406 |
428 |
N/A |
INTRINSIC |
low complexity region
|
502 |
514 |
N/A |
INTRINSIC |
transmembrane domain
|
541 |
563 |
N/A |
INTRINSIC |
transmembrane domain
|
567 |
584 |
N/A |
INTRINSIC |
transmembrane domain
|
597 |
619 |
N/A |
INTRINSIC |
transmembrane domain
|
716 |
733 |
N/A |
INTRINSIC |
transmembrane domain
|
740 |
759 |
N/A |
INTRINSIC |
transmembrane domain
|
774 |
796 |
N/A |
INTRINSIC |
transmembrane domain
|
803 |
820 |
N/A |
INTRINSIC |
low complexity region
|
848 |
859 |
N/A |
INTRINSIC |
coiled coil region
|
895 |
926 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134304
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148497
AA Change: T1043K
|
SMART Domains |
Protein: ENSMUSP00000121725 Gene: ENSMUSG00000014444 AA Change: T1043K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
low complexity region
|
86 |
101 |
N/A |
INTRINSIC |
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
transmembrane domain
|
351 |
373 |
N/A |
INTRINSIC |
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
transmembrane domain
|
505 |
522 |
N/A |
INTRINSIC |
transmembrane domain
|
529 |
548 |
N/A |
INTRINSIC |
Pfam:PIEZO
|
580 |
809 |
3.2e-98 |
PFAM |
low complexity region
|
826 |
837 |
N/A |
INTRINSIC |
low complexity region
|
1003 |
1020 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1063 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000156333
AA Change: D1780E
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: D1780E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
transmembrane domain
|
29 |
46 |
N/A |
INTRINSIC |
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
transmembrane domain
|
121 |
143 |
N/A |
INTRINSIC |
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
transmembrane domain
|
212 |
234 |
N/A |
INTRINSIC |
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
transmembrane domain
|
317 |
334 |
N/A |
INTRINSIC |
low complexity region
|
354 |
369 |
N/A |
INTRINSIC |
low complexity region
|
397 |
409 |
N/A |
INTRINSIC |
transmembrane domain
|
434 |
456 |
N/A |
INTRINSIC |
transmembrane domain
|
469 |
491 |
N/A |
INTRINSIC |
transmembrane domain
|
514 |
536 |
N/A |
INTRINSIC |
internal_repeat_1
|
542 |
659 |
4.88e-5 |
PROSPERO |
transmembrane domain
|
686 |
708 |
N/A |
INTRINSIC |
low complexity region
|
739 |
754 |
N/A |
INTRINSIC |
transmembrane domain
|
818 |
840 |
N/A |
INTRINSIC |
transmembrane domain
|
845 |
867 |
N/A |
INTRINSIC |
low complexity region
|
941 |
953 |
N/A |
INTRINSIC |
transmembrane domain
|
980 |
1002 |
N/A |
INTRINSIC |
transmembrane domain
|
1006 |
1023 |
N/A |
INTRINSIC |
transmembrane domain
|
1036 |
1058 |
N/A |
INTRINSIC |
transmembrane domain
|
1155 |
1172 |
N/A |
INTRINSIC |
transmembrane domain
|
1179 |
1198 |
N/A |
INTRINSIC |
Pfam:PIEZO
|
1230 |
1459 |
2.3e-94 |
PFAM |
low complexity region
|
1476 |
1487 |
N/A |
INTRINSIC |
internal_repeat_1
|
1647 |
1753 |
4.88e-5 |
PROSPERO |
low complexity region
|
1906 |
1922 |
N/A |
INTRINSIC |
transmembrane domain
|
1977 |
1999 |
N/A |
INTRINSIC |
transmembrane domain
|
2019 |
2039 |
N/A |
INTRINSIC |
transmembrane domain
|
2046 |
2068 |
N/A |
INTRINSIC |
transmembrane domain
|
2078 |
2095 |
N/A |
INTRINSIC |
Pfam:Piezo_RRas_bdg
|
2127 |
2545 |
8.7e-154 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152596
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155803
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151855
|
SMART Domains |
Protein: ENSMUSP00000133622 Gene: ENSMUSG00000049482
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
SCOP:d1sur__
|
47 |
153 |
9e-4 |
SMART |
Pfam:DUF2392
|
277 |
377 |
1.7e-30 |
PFAM |
|
Meta Mutation Damage Score |
0.1679 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.7%
|
Validation Efficiency |
96% (88/92) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015] PHENOTYPE: Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,356,383 (GRCm39) |
N608S |
probably benign |
Het |
Actg1 |
T |
C |
11: 120,237,784 (GRCm39) |
N7S |
probably damaging |
Het |
Adamtsl3 |
T |
A |
7: 82,225,262 (GRCm39) |
L357Q |
probably benign |
Het |
Ahnak |
A |
T |
19: 8,987,995 (GRCm39) |
Q3093L |
possibly damaging |
Het |
Ankrd16 |
T |
A |
2: 11,794,692 (GRCm39) |
V359E |
probably benign |
Het |
Ankrd40 |
T |
C |
11: 94,230,550 (GRCm39) |
|
probably benign |
Het |
Ano10 |
G |
A |
9: 122,101,625 (GRCm39) |
Q49* |
probably null |
Het |
Aoah |
A |
T |
13: 21,099,129 (GRCm39) |
D236V |
probably damaging |
Het |
Bin1 |
T |
C |
18: 32,552,983 (GRCm39) |
|
probably null |
Het |
Braf |
T |
C |
6: 39,665,221 (GRCm39) |
D49G |
probably benign |
Het |
Brsk1 |
A |
T |
7: 4,707,265 (GRCm39) |
R273W |
probably damaging |
Het |
C2cd3 |
T |
A |
7: 100,109,049 (GRCm39) |
M2259K |
possibly damaging |
Het |
Cabp1 |
T |
C |
5: 115,313,531 (GRCm39) |
N43D |
possibly damaging |
Het |
Ccar2 |
T |
A |
14: 70,379,951 (GRCm39) |
Q412L |
possibly damaging |
Het |
Cd4 |
T |
C |
6: 124,843,583 (GRCm39) |
T443A |
possibly damaging |
Het |
Cdh23 |
T |
A |
10: 60,140,627 (GRCm39) |
I3206F |
possibly damaging |
Het |
Ceacam9 |
A |
T |
7: 16,459,122 (GRCm39) |
|
probably null |
Het |
Chid1 |
T |
C |
7: 141,093,749 (GRCm39) |
D289G |
probably damaging |
Het |
Chmp6 |
T |
A |
11: 119,809,469 (GRCm39) |
L196Q |
probably damaging |
Het |
Cog8 |
A |
G |
8: 107,775,757 (GRCm39) |
S536P |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,323,960 (GRCm39) |
S1141R |
probably damaging |
Het |
Dnah7a |
T |
G |
1: 53,701,657 (GRCm39) |
Y166S |
probably damaging |
Het |
Dnah7b |
G |
T |
1: 46,226,523 (GRCm39) |
W1318L |
probably damaging |
Het |
Ecd |
A |
G |
14: 20,387,098 (GRCm39) |
F212S |
probably damaging |
Het |
Entpd6 |
A |
T |
2: 150,605,564 (GRCm39) |
S265C |
probably damaging |
Het |
Epb41l2 |
A |
G |
10: 25,360,206 (GRCm39) |
T523A |
possibly damaging |
Het |
Focad |
T |
C |
4: 88,262,819 (GRCm39) |
S939P |
unknown |
Het |
Gjb3 |
A |
T |
4: 127,220,280 (GRCm39) |
V84D |
probably damaging |
Het |
Gm572 |
A |
T |
4: 148,739,301 (GRCm39) |
E43V |
possibly damaging |
Het |
Gm6185 |
T |
A |
1: 161,052,178 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
T |
A |
11: 57,201,522 (GRCm39) |
C787S |
probably damaging |
Het |
Grpel2 |
A |
G |
18: 61,849,024 (GRCm39) |
L162P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,393,408 (GRCm39) |
T4096A |
probably benign |
Het |
Hook3 |
A |
T |
8: 26,600,785 (GRCm39) |
M41K |
probably damaging |
Het |
Ifit1bl1 |
T |
C |
19: 34,571,293 (GRCm39) |
Y388C |
probably damaging |
Het |
Ighv3-4 |
A |
G |
12: 114,217,382 (GRCm39) |
Y70H |
probably benign |
Het |
Itm2c |
T |
C |
1: 85,834,213 (GRCm39) |
L176P |
probably damaging |
Het |
Lmtk3 |
G |
A |
7: 45,443,836 (GRCm39) |
|
probably benign |
Het |
Macf1 |
G |
A |
4: 123,333,287 (GRCm39) |
T2376I |
possibly damaging |
Het |
Map1a |
T |
G |
2: 121,138,019 (GRCm39) |
S2660A |
possibly damaging |
Het |
Mmrn2 |
A |
G |
14: 34,121,158 (GRCm39) |
H676R |
probably benign |
Het |
Nbeal1 |
A |
T |
1: 60,276,338 (GRCm39) |
K693M |
probably damaging |
Het |
Ndufa13 |
T |
A |
8: 70,347,920 (GRCm39) |
R49* |
probably null |
Het |
Neb |
T |
A |
2: 52,094,892 (GRCm39) |
T1115S |
possibly damaging |
Het |
Nvl |
C |
T |
1: 180,932,720 (GRCm39) |
R699H |
probably damaging |
Het |
Or10w1 |
A |
G |
19: 13,632,296 (GRCm39) |
I163V |
probably benign |
Het |
Or5d47 |
A |
T |
2: 87,804,364 (GRCm39) |
I215N |
probably damaging |
Het |
Or8b53 |
A |
G |
9: 38,667,041 (GRCm39) |
D19G |
probably benign |
Het |
Or8d2b |
A |
T |
9: 38,789,195 (GRCm39) |
H241L |
possibly damaging |
Het |
Prl8a9 |
A |
G |
13: 27,745,560 (GRCm39) |
S77P |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,176,506 (GRCm39) |
I2904F |
probably damaging |
Het |
Retreg1 |
T |
A |
15: 25,970,214 (GRCm39) |
S151T |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,327,590 (GRCm39) |
D1859G |
probably damaging |
Het |
Rnf39 |
T |
C |
17: 37,256,426 (GRCm39) |
F173L |
probably benign |
Het |
Rspry1 |
T |
A |
8: 95,376,931 (GRCm39) |
N371K |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,375,284 (GRCm39) |
D659V |
possibly damaging |
Het |
Sez6 |
T |
A |
11: 77,859,815 (GRCm39) |
F378Y |
probably damaging |
Het |
Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
Slit2 |
A |
T |
5: 48,414,147 (GRCm39) |
N917I |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,792,768 (GRCm39) |
|
probably benign |
Het |
Tes |
T |
C |
6: 17,096,339 (GRCm39) |
V24A |
probably benign |
Het |
Tial1 |
C |
T |
7: 128,050,120 (GRCm39) |
E82K |
probably damaging |
Het |
Tmem94 |
G |
A |
11: 115,683,930 (GRCm39) |
C750Y |
probably damaging |
Het |
Tmppe |
T |
A |
9: 114,234,887 (GRCm39) |
N395K |
possibly damaging |
Het |
Tnn |
T |
C |
1: 159,973,707 (GRCm39) |
H220R |
probably benign |
Het |
Trappc10 |
T |
C |
10: 78,040,122 (GRCm39) |
T610A |
possibly damaging |
Het |
Trmt1l |
T |
A |
1: 151,316,627 (GRCm39) |
M196K |
probably damaging |
Het |
Trpv4 |
T |
C |
5: 114,760,715 (GRCm39) |
*872W |
probably null |
Het |
Ttn |
T |
C |
2: 76,579,353 (GRCm39) |
T23847A |
probably benign |
Het |
Ube4b |
T |
A |
4: 149,445,022 (GRCm39) |
L440F |
probably damaging |
Het |
Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,838,185 (GRCm39) |
T889S |
possibly damaging |
Het |
Vmn1r215 |
C |
T |
13: 23,260,449 (GRCm39) |
T163I |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,508,722 (GRCm39) |
Y483* |
probably null |
Het |
Wdr47 |
T |
A |
3: 108,525,838 (GRCm39) |
C120* |
probably null |
Het |
Zc3h6 |
G |
A |
2: 128,859,229 (GRCm39) |
V1087I |
probably benign |
Het |
Zfp423 |
T |
C |
8: 88,507,302 (GRCm39) |
H889R |
probably damaging |
Het |
Zfp825 |
G |
T |
13: 74,629,196 (GRCm39) |
H107N |
probably benign |
Het |
Zfp945 |
T |
C |
17: 23,069,859 (GRCm39) |
H680R |
probably damaging |
Het |
|
Other mutations in Piezo1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00896:Piezo1
|
APN |
8 |
123,224,609 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01094:Piezo1
|
APN |
8 |
123,208,877 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01321:Piezo1
|
APN |
8 |
123,214,339 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01695:Piezo1
|
APN |
8 |
123,222,248 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01762:Piezo1
|
APN |
8 |
123,214,668 (GRCm39) |
nonsense |
probably null |
|
IGL01922:Piezo1
|
APN |
8 |
123,219,431 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01953:Piezo1
|
APN |
8 |
123,217,923 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01997:Piezo1
|
APN |
8 |
123,215,070 (GRCm39) |
splice site |
probably benign |
|
IGL02381:Piezo1
|
APN |
8 |
123,225,283 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02398:Piezo1
|
APN |
8 |
123,213,302 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02562:Piezo1
|
APN |
8 |
123,223,502 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02572:Piezo1
|
APN |
8 |
123,212,044 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02691:Piezo1
|
APN |
8 |
123,228,688 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02726:Piezo1
|
APN |
8 |
123,213,894 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02814:Piezo1
|
APN |
8 |
123,224,954 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02931:Piezo1
|
APN |
8 |
123,210,258 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03145:Piezo1
|
APN |
8 |
123,209,660 (GRCm39) |
missense |
probably benign |
0.14 |
FR4449:Piezo1
|
UTSW |
8 |
123,222,308 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4548:Piezo1
|
UTSW |
8 |
123,222,308 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4737:Piezo1
|
UTSW |
8 |
123,222,308 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4976:Piezo1
|
UTSW |
8 |
123,222,308 (GRCm39) |
missense |
probably damaging |
1.00 |
LCD18:Piezo1
|
UTSW |
8 |
123,222,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0085:Piezo1
|
UTSW |
8 |
123,228,354 (GRCm39) |
missense |
probably damaging |
0.98 |
R0096:Piezo1
|
UTSW |
8 |
123,212,109 (GRCm39) |
unclassified |
probably benign |
|
R0970:Piezo1
|
UTSW |
8 |
123,213,549 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1364:Piezo1
|
UTSW |
8 |
123,225,310 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1460:Piezo1
|
UTSW |
8 |
123,228,890 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1485:Piezo1
|
UTSW |
8 |
123,208,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R1538:Piezo1
|
UTSW |
8 |
123,218,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R1655:Piezo1
|
UTSW |
8 |
123,223,561 (GRCm39) |
missense |
probably benign |
0.09 |
R1700:Piezo1
|
UTSW |
8 |
123,214,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R1860:Piezo1
|
UTSW |
8 |
123,222,489 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1861:Piezo1
|
UTSW |
8 |
123,222,489 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1899:Piezo1
|
UTSW |
8 |
123,216,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Piezo1
|
UTSW |
8 |
123,209,384 (GRCm39) |
unclassified |
probably benign |
|
R1900:Piezo1
|
UTSW |
8 |
123,209,384 (GRCm39) |
unclassified |
probably benign |
|
R2018:Piezo1
|
UTSW |
8 |
123,209,451 (GRCm39) |
missense |
probably benign |
0.43 |
R2019:Piezo1
|
UTSW |
8 |
123,209,451 (GRCm39) |
missense |
probably benign |
0.43 |
R2219:Piezo1
|
UTSW |
8 |
123,218,227 (GRCm39) |
missense |
probably benign |
0.01 |
R2331:Piezo1
|
UTSW |
8 |
123,214,005 (GRCm39) |
splice site |
probably null |
|
R3016:Piezo1
|
UTSW |
8 |
123,232,766 (GRCm39) |
critical splice donor site |
probably null |
|
R3699:Piezo1
|
UTSW |
8 |
123,221,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R3700:Piezo1
|
UTSW |
8 |
123,221,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R3746:Piezo1
|
UTSW |
8 |
123,219,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R3905:Piezo1
|
UTSW |
8 |
123,208,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R4093:Piezo1
|
UTSW |
8 |
123,227,899 (GRCm39) |
critical splice donor site |
probably null |
|
R4296:Piezo1
|
UTSW |
8 |
123,217,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R4396:Piezo1
|
UTSW |
8 |
123,225,413 (GRCm39) |
missense |
probably damaging |
0.98 |
R4467:Piezo1
|
UTSW |
8 |
123,213,135 (GRCm39) |
missense |
probably benign |
0.17 |
R4614:Piezo1
|
UTSW |
8 |
123,213,150 (GRCm39) |
missense |
probably benign |
0.25 |
R4642:Piezo1
|
UTSW |
8 |
123,222,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R4688:Piezo1
|
UTSW |
8 |
123,215,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R4734:Piezo1
|
UTSW |
8 |
123,224,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:Piezo1
|
UTSW |
8 |
123,224,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:Piezo1
|
UTSW |
8 |
123,213,678 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4865:Piezo1
|
UTSW |
8 |
123,213,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R4869:Piezo1
|
UTSW |
8 |
123,214,284 (GRCm39) |
missense |
probably benign |
|
R4962:Piezo1
|
UTSW |
8 |
123,213,220 (GRCm39) |
missense |
probably benign |
0.41 |
R5418:Piezo1
|
UTSW |
8 |
123,213,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R5625:Piezo1
|
UTSW |
8 |
123,209,699 (GRCm39) |
missense |
probably benign |
0.01 |
R5759:Piezo1
|
UTSW |
8 |
123,234,394 (GRCm39) |
missense |
probably damaging |
0.98 |
R5864:Piezo1
|
UTSW |
8 |
123,213,112 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5898:Piezo1
|
UTSW |
8 |
123,214,682 (GRCm39) |
missense |
probably benign |
0.00 |
R5948:Piezo1
|
UTSW |
8 |
123,210,086 (GRCm39) |
missense |
probably benign |
0.01 |
R6052:Piezo1
|
UTSW |
8 |
123,233,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R6086:Piezo1
|
UTSW |
8 |
123,228,396 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6216:Piezo1
|
UTSW |
8 |
123,215,869 (GRCm39) |
missense |
probably benign |
0.05 |
R6271:Piezo1
|
UTSW |
8 |
123,221,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R6549:Piezo1
|
UTSW |
8 |
123,227,002 (GRCm39) |
missense |
|
|
R6723:Piezo1
|
UTSW |
8 |
123,234,366 (GRCm39) |
missense |
probably benign |
0.15 |
R6871:Piezo1
|
UTSW |
8 |
123,211,766 (GRCm39) |
splice site |
probably null |
|
R6919:Piezo1
|
UTSW |
8 |
123,217,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R7085:Piezo1
|
UTSW |
8 |
123,217,633 (GRCm39) |
missense |
|
|
R7105:Piezo1
|
UTSW |
8 |
123,208,857 (GRCm39) |
missense |
unknown |
|
R7267:Piezo1
|
UTSW |
8 |
123,224,268 (GRCm39) |
missense |
|
|
R7337:Piezo1
|
UTSW |
8 |
123,212,463 (GRCm39) |
missense |
|
|
R7381:Piezo1
|
UTSW |
8 |
123,228,397 (GRCm39) |
missense |
|
|
R7480:Piezo1
|
UTSW |
8 |
123,225,234 (GRCm39) |
nonsense |
probably null |
|
R7515:Piezo1
|
UTSW |
8 |
123,212,035 (GRCm39) |
missense |
|
|
R7571:Piezo1
|
UTSW |
8 |
123,225,157 (GRCm39) |
missense |
|
|
R7601:Piezo1
|
UTSW |
8 |
123,210,220 (GRCm39) |
splice site |
probably null |
|
R7827:Piezo1
|
UTSW |
8 |
123,209,659 (GRCm39) |
missense |
probably damaging |
0.96 |
R7923:Piezo1
|
UTSW |
8 |
123,223,183 (GRCm39) |
missense |
|
|
R7975:Piezo1
|
UTSW |
8 |
123,222,504 (GRCm39) |
missense |
|
|
R8071:Piezo1
|
UTSW |
8 |
123,213,750 (GRCm39) |
missense |
probably null |
|
R8231:Piezo1
|
UTSW |
8 |
123,232,836 (GRCm39) |
missense |
|
|
R8270:Piezo1
|
UTSW |
8 |
123,228,298 (GRCm39) |
missense |
|
|
R8784:Piezo1
|
UTSW |
8 |
123,223,328 (GRCm39) |
splice site |
probably benign |
|
R8788:Piezo1
|
UTSW |
8 |
123,228,533 (GRCm39) |
missense |
|
|
R8829:Piezo1
|
UTSW |
8 |
123,217,753 (GRCm39) |
missense |
|
|
R8890:Piezo1
|
UTSW |
8 |
123,216,330 (GRCm39) |
missense |
|
|
R8950:Piezo1
|
UTSW |
8 |
123,208,729 (GRCm39) |
missense |
probably benign |
0.01 |
R8994:Piezo1
|
UTSW |
8 |
123,209,829 (GRCm39) |
missense |
unknown |
|
R9036:Piezo1
|
UTSW |
8 |
123,215,090 (GRCm39) |
missense |
|
|
R9145:Piezo1
|
UTSW |
8 |
123,208,753 (GRCm39) |
missense |
unknown |
|
R9146:Piezo1
|
UTSW |
8 |
123,227,002 (GRCm39) |
missense |
|
|
R9251:Piezo1
|
UTSW |
8 |
123,219,354 (GRCm39) |
missense |
|
|
R9307:Piezo1
|
UTSW |
8 |
123,213,832 (GRCm39) |
missense |
|
|
R9375:Piezo1
|
UTSW |
8 |
123,228,604 (GRCm39) |
missense |
|
|
R9424:Piezo1
|
UTSW |
8 |
123,218,079 (GRCm39) |
missense |
|
|
R9578:Piezo1
|
UTSW |
8 |
123,224,214 (GRCm39) |
missense |
|
|
R9722:Piezo1
|
UTSW |
8 |
123,225,497 (GRCm39) |
missense |
|
|
R9775:Piezo1
|
UTSW |
8 |
123,208,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACTATGGAGGATACGGGTTG -3'
(R):5'- TCTTCACTGAGGTGGGTAGCAG -3'
Sequencing Primer
(F):5'- ATACGGGTTGGTGAGGAGCC -3'
(R):5'- CAGCTTGTAGGGTAGGGGC -3'
|
Posted On |
2016-06-06 |