Incidental Mutation 'R5898:Piezo1'
ID |
501632 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piezo1
|
Ensembl Gene |
ENSMUSG00000014444 |
Gene Name |
piezo-type mechanosensitive ion channel component 1 |
Synonyms |
Fam38a, Piezo1 |
MMRRC Submission |
044097-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5898 (G1)
|
Quality Score |
223 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
123208437-123278068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123214682 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1547
(V1547A)
|
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: V1547A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: V1547A
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: V897A
|
SMART Domains |
Protein: ENSMUSP00000121725 Gene: ENSMUSG00000014444 AA Change: V897A
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: V1548A
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: V1548A
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152596
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
96% (86/90) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
G |
T |
10: 100,448,762 (GRCm39) |
R158L |
possibly damaging |
Het |
1700017N19Rik |
G |
A |
10: 100,451,070 (GRCm39) |
M179I |
probably benign |
Het |
Abhd12 |
T |
C |
2: 150,681,698 (GRCm39) |
I231V |
possibly damaging |
Het |
Adsl |
A |
G |
15: 80,845,554 (GRCm39) |
|
probably null |
Het |
Ahnak |
C |
A |
19: 8,991,131 (GRCm39) |
N4138K |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,995,575 (GRCm39) |
S5620P |
probably damaging |
Het |
Akap13 |
C |
T |
7: 75,378,894 (GRCm39) |
T2145I |
probably damaging |
Het |
Alpk2 |
T |
A |
18: 65,440,694 (GRCm39) |
Q700L |
probably damaging |
Het |
Apobec1 |
T |
C |
6: 122,557,732 (GRCm39) |
Y159C |
probably damaging |
Het |
Atg9a |
T |
C |
1: 75,162,916 (GRCm39) |
T395A |
probably damaging |
Het |
Atp6v1f |
A |
G |
6: 29,467,957 (GRCm39) |
I48V |
probably benign |
Het |
BC051665 |
A |
C |
13: 60,930,518 (GRCm39) |
V278G |
probably damaging |
Het |
Bicd1 |
A |
T |
6: 149,415,201 (GRCm39) |
H638L |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,251,192 (GRCm39) |
Y460C |
probably damaging |
Het |
Ccdc157 |
C |
A |
11: 4,094,538 (GRCm39) |
R496L |
probably benign |
Het |
Cdcp3 |
T |
G |
7: 130,843,696 (GRCm39) |
|
probably null |
Het |
Cep44 |
C |
G |
8: 56,994,056 (GRCm39) |
V174L |
probably damaging |
Het |
Clca3a1 |
G |
T |
3: 144,722,522 (GRCm39) |
F283L |
possibly damaging |
Het |
Csk |
T |
C |
9: 57,537,585 (GRCm39) |
T110A |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,792,506 (GRCm39) |
|
probably null |
Het |
Cutc |
A |
G |
19: 43,748,468 (GRCm39) |
I124V |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,339,725 (GRCm39) |
T104A |
probably benign |
Het |
Cyp2j9 |
G |
T |
4: 96,465,951 (GRCm39) |
T294K |
probably benign |
Het |
D630003M21Rik |
T |
A |
2: 158,046,577 (GRCm39) |
|
probably null |
Het |
Dcaf15 |
G |
T |
8: 84,825,081 (GRCm39) |
F450L |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,840,125 (GRCm39) |
I723K |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 118,005,039 (GRCm39) |
A782T |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,677,724 (GRCm39) |
D399G |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,148,717 (GRCm39) |
N909S |
probably benign |
Het |
Erbin |
A |
G |
13: 103,975,813 (GRCm39) |
|
probably null |
Het |
Fanci |
G |
A |
7: 79,083,069 (GRCm39) |
V682I |
probably benign |
Het |
Fap |
A |
T |
2: 62,403,847 (GRCm39) |
F9L |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,849,757 (GRCm39) |
I3882V |
probably benign |
Het |
Fkbp15 |
A |
T |
4: 62,244,294 (GRCm39) |
|
probably null |
Het |
Fsd2 |
T |
C |
7: 81,186,975 (GRCm39) |
Y601C |
probably damaging |
Het |
Gm5900 |
T |
C |
7: 104,599,468 (GRCm39) |
|
noncoding transcript |
Het |
Gramd4 |
G |
T |
15: 85,984,985 (GRCm39) |
G82V |
probably damaging |
Het |
Hc |
C |
T |
2: 34,887,449 (GRCm39) |
V1352I |
probably benign |
Het |
Hsph1 |
A |
T |
5: 149,548,623 (GRCm39) |
N466K |
probably damaging |
Het |
Ice2 |
T |
A |
9: 69,315,544 (GRCm39) |
D133E |
probably benign |
Het |
Ifi213 |
T |
C |
1: 173,396,545 (GRCm39) |
M510V |
probably benign |
Het |
Itpkb |
T |
G |
1: 180,248,880 (GRCm39) |
L861R |
probably damaging |
Het |
Kbtbd3 |
T |
A |
9: 4,330,476 (GRCm39) |
D283E |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
Masp1 |
T |
A |
16: 23,310,677 (GRCm39) |
I252F |
probably damaging |
Het |
Megf11 |
G |
T |
9: 64,593,246 (GRCm39) |
C586F |
probably damaging |
Het |
Myh2 |
C |
A |
11: 67,083,545 (GRCm39) |
A1476E |
possibly damaging |
Het |
Myo18b |
A |
T |
5: 112,950,196 (GRCm39) |
|
probably null |
Het |
Naip6 |
A |
T |
13: 100,435,829 (GRCm39) |
V898E |
possibly damaging |
Het |
Nav1 |
T |
C |
1: 135,512,884 (GRCm39) |
M59V |
probably benign |
Het |
Nlrp3 |
A |
T |
11: 59,437,678 (GRCm39) |
Y119F |
probably benign |
Het |
Oxa1l |
T |
A |
14: 54,600,758 (GRCm39) |
I77N |
possibly damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,490,537 (GRCm39) |
D738E |
possibly damaging |
Het |
Pdia5 |
A |
T |
16: 35,243,335 (GRCm39) |
W269R |
probably damaging |
Het |
Peak1 |
T |
A |
9: 56,114,622 (GRCm39) |
T1440S |
probably benign |
Het |
Pkp1 |
T |
C |
1: 135,810,259 (GRCm39) |
Y437C |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,253,104 (GRCm39) |
D1329G |
probably damaging |
Het |
Ppip5k2 |
T |
C |
1: 97,671,887 (GRCm39) |
|
probably benign |
Het |
Prrg4 |
C |
T |
2: 104,675,378 (GRCm39) |
S75N |
probably benign |
Het |
Psmb9 |
T |
A |
17: 34,401,266 (GRCm39) |
I198F |
probably damaging |
Het |
Rcbtb2 |
T |
A |
14: 73,399,405 (GRCm39) |
L23* |
probably null |
Het |
Sbno1 |
A |
T |
5: 124,524,854 (GRCm39) |
|
probably benign |
Het |
Scn3a |
T |
C |
2: 65,345,039 (GRCm39) |
E483G |
probably damaging |
Het |
Sdccag8 |
T |
A |
1: 176,652,388 (GRCm39) |
D46E |
probably benign |
Het |
Selenov |
A |
G |
7: 27,987,579 (GRCm39) |
F293L |
probably damaging |
Het |
Septin2 |
A |
C |
1: 93,407,023 (GRCm39) |
D20A |
probably benign |
Het |
Shc1 |
T |
A |
3: 89,334,274 (GRCm39) |
Y313* |
probably null |
Het |
Siglec1 |
T |
A |
2: 130,915,553 (GRCm39) |
Y1346F |
probably damaging |
Het |
Slc22a5 |
T |
A |
11: 53,764,559 (GRCm39) |
I296F |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,365,123 (GRCm39) |
N152S |
probably damaging |
Het |
Smoc1 |
C |
T |
12: 81,151,531 (GRCm39) |
R83* |
probably null |
Het |
Ssx2ip |
A |
G |
3: 146,133,586 (GRCm39) |
D227G |
possibly damaging |
Het |
Tbrg4 |
T |
C |
11: 6,567,372 (GRCm39) |
D576G |
probably damaging |
Het |
Tbx20 |
T |
A |
9: 24,670,155 (GRCm39) |
Y226F |
probably damaging |
Het |
Trav10d |
G |
T |
14: 53,048,929 (GRCm39) |
A107S |
probably damaging |
Het |
Trim60 |
A |
T |
8: 65,453,016 (GRCm39) |
L411* |
probably null |
Het |
Ttbk2 |
A |
T |
2: 120,575,521 (GRCm39) |
V1083D |
probably benign |
Het |
Unc93a |
T |
A |
17: 13,344,464 (GRCm39) |
Q26L |
probably damaging |
Het |
Usp14 |
T |
A |
18: 10,022,819 (GRCm39) |
N65I |
possibly damaging |
Het |
Vip |
A |
T |
10: 5,593,988 (GRCm39) |
S114C |
probably damaging |
Het |
Vmn1r237 |
A |
T |
17: 21,534,813 (GRCm39) |
I179F |
probably damaging |
Het |
Wdr47 |
T |
A |
3: 108,545,201 (GRCm39) |
|
probably null |
Het |
Zfp975 |
A |
T |
7: 42,311,963 (GRCm39) |
C217S |
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 |
R5026:Piezo1
|
UTSW |
8 |
123,213,557 (GRCm39) |
missense |
probably benign |
0.11 |
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 |
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'- AGTACTGTACCCCAATGGCTCC -3'
(R):5'- GTGCATTCACGAAGCACCAC -3'
Sequencing Primer
(F):5'- CTCCAGAGGACACACAGAAATGG -3'
(R):5'- GCACCATGAGCGATGTGC -3'
|
Posted On |
2017-12-01 |