Incidental Mutation 'R6919:Piezo1'
ID |
539503 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piezo1
|
Ensembl Gene |
ENSMUSG00000014444 |
Gene Name |
piezo-type mechanosensitive ion channel component 1 |
Synonyms |
Fam38a, Piezo1 |
MMRRC Submission |
045039-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6919 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
123208437-123278068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 123217020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1333
(H1333L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067252]
[ENSMUST00000127664]
[ENSMUST00000128383]
[ENSMUST00000156333]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067252
AA Change: H1333L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: H1333L
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: 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 damaging
Transcript: ENSMUST00000128383
AA Change: H895L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116194 Gene: ENSMUSG00000014444 AA Change: H895L
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 |
|
SMART Domains |
Protein: ENSMUSP00000121725 Gene: ENSMUSG00000014444 AA Change: H683L
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 |
probably benign
Transcript: ENSMUST00000156333
AA Change: H1334L
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: H1334L
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 |
|
Meta Mutation Damage Score |
0.1103 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
99% (84/85) |
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 |
1700086D15Rik |
A |
G |
11: 65,043,356 (GRCm39) |
|
probably benign |
Het |
6430548M08Rik |
T |
C |
8: 120,872,221 (GRCm39) |
S50P |
probably damaging |
Het |
Aacs |
A |
G |
5: 125,583,227 (GRCm39) |
D261G |
probably benign |
Het |
Abcc4 |
T |
A |
14: 118,832,306 (GRCm39) |
T775S |
probably benign |
Het |
Acsl6 |
A |
G |
11: 54,232,582 (GRCm39) |
|
probably null |
Het |
Agbl5 |
T |
A |
5: 31,062,061 (GRCm39) |
F196I |
probably benign |
Het |
Ahnak2 |
T |
C |
12: 112,741,118 (GRCm39) |
T985A |
possibly damaging |
Het |
Ak1 |
A |
T |
2: 32,521,134 (GRCm39) |
D101V |
possibly damaging |
Het |
Alx1 |
A |
G |
10: 102,861,061 (GRCm39) |
Y156H |
probably damaging |
Het |
Angptl7 |
T |
A |
4: 148,584,488 (GRCm39) |
S87C |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,579,299 (GRCm39) |
T188A |
probably benign |
Het |
Arhgap11a |
A |
C |
2: 113,670,054 (GRCm39) |
S356R |
possibly damaging |
Het |
Ascc3 |
G |
T |
10: 50,521,849 (GRCm39) |
E455* |
probably null |
Het |
Atp6v0a2 |
G |
A |
5: 124,789,225 (GRCm39) |
|
probably null |
Het |
B3gnt7 |
T |
C |
1: 86,233,416 (GRCm39) |
W104R |
probably damaging |
Het |
Bbs9 |
G |
A |
9: 22,723,840 (GRCm39) |
|
probably null |
Het |
Cc2d2a |
T |
A |
5: 43,860,557 (GRCm39) |
D544E |
probably benign |
Het |
Cic |
C |
T |
7: 24,971,202 (GRCm39) |
T311I |
probably benign |
Het |
Cngb1 |
T |
A |
8: 95,975,003 (GRCm39) |
R1157W |
probably null |
Het |
Cntln |
A |
G |
4: 85,033,605 (GRCm39) |
H1310R |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,600,948 (GRCm39) |
I764F |
probably benign |
Het |
Col26a1 |
T |
C |
5: 136,773,088 (GRCm39) |
Q362R |
possibly damaging |
Het |
Cyp2c29 |
G |
A |
19: 39,279,585 (GRCm39) |
R100K |
probably benign |
Het |
D17H6S53E |
C |
G |
17: 35,346,222 (GRCm39) |
D44E |
probably damaging |
Het |
Dap3 |
A |
G |
3: 88,838,296 (GRCm39) |
V65A |
probably damaging |
Het |
Dna2 |
A |
T |
10: 62,792,782 (GRCm39) |
I266F |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,412,631 (GRCm39) |
G57E |
probably benign |
Het |
Dock9 |
A |
T |
14: 121,880,564 (GRCm39) |
V333E |
probably benign |
Het |
Dpm1 |
A |
G |
2: 168,072,195 (GRCm39) |
Y27H |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,351,631 (GRCm39) |
Y150F |
possibly damaging |
Het |
Emilin3 |
A |
T |
2: 160,750,018 (GRCm39) |
I577N |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,819,552 (GRCm39) |
T189A |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,173,597 (GRCm39) |
I2372T |
possibly damaging |
Het |
Fbn2 |
A |
T |
18: 58,257,259 (GRCm39) |
|
probably null |
Het |
Gnl1 |
A |
T |
17: 36,298,425 (GRCm39) |
R390* |
probably null |
Het |
Hivep1 |
A |
G |
13: 42,336,928 (GRCm39) |
I2336V |
probably benign |
Het |
Il17rb |
C |
G |
14: 29,726,228 (GRCm39) |
|
probably null |
Het |
Itga9 |
T |
C |
9: 118,716,883 (GRCm39) |
W396R |
probably damaging |
Het |
Katnal2 |
A |
G |
18: 77,098,734 (GRCm39) |
V152A |
probably benign |
Het |
Kcnk3 |
A |
G |
5: 30,779,744 (GRCm39) |
T265A |
probably benign |
Het |
Klhl1 |
T |
C |
14: 96,374,030 (GRCm39) |
Y672C |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,146,625 (GRCm39) |
N412K |
possibly damaging |
Het |
Lrrc9 |
T |
A |
12: 72,553,167 (GRCm39) |
F1356L |
probably benign |
Het |
Map7 |
A |
G |
10: 20,046,828 (GRCm39) |
|
probably benign |
Het |
Mei1 |
T |
C |
15: 81,966,131 (GRCm39) |
F251S |
probably damaging |
Het |
Mia2 |
A |
G |
12: 59,176,681 (GRCm39) |
E9G |
possibly damaging |
Het |
Ms4a13 |
C |
A |
19: 11,149,249 (GRCm39) |
W182C |
probably benign |
Het |
Muc16 |
C |
T |
9: 18,571,595 (GRCm39) |
R308K |
unknown |
Het |
Or4c103 |
G |
A |
2: 88,514,028 (GRCm39) |
T16I |
possibly damaging |
Het |
Or8g22 |
A |
G |
9: 38,958,827 (GRCm39) |
|
probably benign |
Het |
Pcnt |
A |
G |
10: 76,221,632 (GRCm39) |
V1998A |
probably benign |
Het |
Pgm2 |
A |
T |
5: 64,254,368 (GRCm39) |
N51I |
probably benign |
Het |
Prg2 |
G |
A |
2: 84,813,600 (GRCm39) |
V199M |
probably damaging |
Het |
Prss51 |
T |
C |
14: 64,334,937 (GRCm39) |
V182A |
probably damaging |
Het |
Psmb9 |
A |
T |
17: 34,402,199 (GRCm39) |
Y132* |
probably null |
Het |
Ralyl |
T |
C |
3: 13,842,091 (GRCm39) |
Y76H |
probably damaging |
Het |
Rnaset2a |
A |
T |
17: 8,349,114 (GRCm39) |
D174E |
probably benign |
Het |
Rnft1 |
G |
A |
11: 86,386,156 (GRCm39) |
|
probably null |
Het |
Robo2 |
T |
C |
16: 73,758,755 (GRCm39) |
Y676C |
probably damaging |
Het |
Samd9l |
T |
G |
6: 3,376,313 (GRCm39) |
Y316S |
possibly damaging |
Het |
Siah3 |
T |
A |
14: 75,693,578 (GRCm39) |
F28Y |
possibly damaging |
Het |
Slc28a3 |
C |
T |
13: 58,721,257 (GRCm39) |
|
probably null |
Het |
Slc8a1 |
A |
G |
17: 81,696,301 (GRCm39) |
F911S |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,722,015 (GRCm39) |
Y1055C |
probably benign |
Het |
Speg |
T |
A |
1: 75,364,552 (GRCm39) |
L156* |
probably null |
Het |
Spopl |
T |
G |
2: 23,407,873 (GRCm39) |
M269L |
probably benign |
Het |
Tacr1 |
C |
T |
6: 82,534,054 (GRCm39) |
T360I |
probably benign |
Het |
Tasor |
T |
A |
14: 27,171,758 (GRCm39) |
L397* |
probably null |
Het |
Tmem262 |
A |
G |
19: 6,130,767 (GRCm39) |
E95G |
probably benign |
Het |
Tmem68 |
G |
T |
4: 3,569,669 (GRCm39) |
T7N |
possibly damaging |
Het |
Top3a |
T |
A |
11: 60,640,319 (GRCm39) |
I460F |
probably damaging |
Het |
Trafd1 |
G |
A |
5: 121,522,137 (GRCm39) |
R5* |
probably null |
Het |
Trim16 |
T |
A |
11: 62,731,695 (GRCm39) |
V435D |
possibly damaging |
Het |
Tspan17 |
A |
G |
13: 54,943,846 (GRCm39) |
D236G |
probably damaging |
Het |
Tssk2 |
A |
T |
16: 17,717,565 (GRCm39) |
M323L |
probably benign |
Het |
Ubqln5 |
A |
G |
7: 103,778,215 (GRCm39) |
V203A |
probably benign |
Het |
Utrn |
A |
T |
10: 12,569,214 (GRCm39) |
L1134* |
probably null |
Het |
Vmn1r37 |
C |
T |
6: 66,708,704 (GRCm39) |
S73F |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,834,734 (GRCm39) |
K1688E |
probably damaging |
Het |
Zbtb39 |
A |
G |
10: 127,577,711 (GRCm39) |
D95G |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,527,160 (GRCm39) |
I1019N |
probably damaging |
Het |
Zfp207 |
C |
T |
11: 80,286,329 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
C |
T |
14: 25,644,062 (GRCm39) |
T169M |
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 |
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 |
|
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'- AGTTCTATCCACGCTTACCTGG -3'
(R):5'- CATGGCTCAGTGTAAGGAGG -3'
Sequencing Primer
(F):5'- ACTGGAGTTGGCCACGACTTG -3'
(R):5'- CTCAGTGTAAGGAGGACCAGGC -3'
|
Posted On |
2018-11-06 |