Incidental Mutation 'R4869:Piezo1'
ID |
376419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piezo1
|
Ensembl Gene |
ENSMUSG00000014444 |
Gene Name |
piezo-type mechanosensitive ion channel component 1 |
Synonyms |
Fam38a, Piezo1 |
MMRRC Submission |
042479-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4869 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
123208437-123278068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 123214284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 1628
(H1628Y)
|
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: H1628Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: H1628Y
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 |
unknown
Transcript: ENSMUST00000148497
AA Change: H978Y
|
SMART Domains |
Protein: ENSMUSP00000121725 Gene: ENSMUSG00000014444 AA Change: H978Y
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: H1629Y
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: H1629Y
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: ENSMUST00000134304
|
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
99% (102/103) |
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
C |
A |
9: 57,161,488 (GRCm39) |
K943N |
probably damaging |
Het |
Abca13 |
G |
A |
11: 9,265,434 (GRCm39) |
|
probably null |
Het |
Ankub1 |
A |
G |
3: 57,597,751 (GRCm39) |
L73P |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,893,007 (GRCm39) |
I982V |
probably benign |
Het |
Cabyr |
G |
T |
18: 12,884,875 (GRCm39) |
*454L |
probably null |
Het |
Ccdc57 |
C |
T |
11: 120,794,344 (GRCm39) |
|
probably null |
Het |
Cd209c |
A |
G |
8: 3,994,077 (GRCm39) |
F128L |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,212,713 (GRCm39) |
I1566N |
probably damaging |
Het |
Cdon |
T |
C |
9: 35,364,200 (GRCm39) |
V106A |
possibly damaging |
Het |
Cebpa |
G |
T |
7: 34,819,246 (GRCm39) |
G135C |
probably damaging |
Het |
Cfap65 |
A |
G |
1: 74,958,420 (GRCm39) |
S896P |
probably benign |
Het |
Ciz1 |
T |
C |
2: 32,254,247 (GRCm39) |
S63P |
probably damaging |
Het |
Clybl |
G |
A |
14: 122,621,618 (GRCm39) |
V269M |
probably damaging |
Het |
Ctnnb1 |
G |
T |
9: 120,782,060 (GRCm39) |
V358L |
possibly damaging |
Het |
Cwh43 |
G |
T |
5: 73,586,016 (GRCm39) |
|
probably null |
Het |
Cyp2d10 |
G |
A |
15: 82,287,967 (GRCm39) |
R379C |
probably benign |
Het |
Dab2ip |
C |
A |
2: 35,610,049 (GRCm39) |
R727S |
probably damaging |
Het |
Dmrt1 |
T |
A |
19: 25,483,219 (GRCm39) |
M1K |
probably null |
Het |
Dock1 |
A |
T |
7: 134,335,800 (GRCm39) |
I65F |
probably damaging |
Het |
Ercc2 |
T |
C |
7: 19,120,732 (GRCm39) |
V155A |
probably damaging |
Het |
Exph5 |
A |
C |
9: 53,287,539 (GRCm39) |
D1540A |
possibly damaging |
Het |
Fat3 |
T |
A |
9: 16,288,773 (GRCm39) |
H250L |
probably damaging |
Het |
Fbxw10 |
C |
A |
11: 62,753,557 (GRCm39) |
A517E |
probably damaging |
Het |
Furin |
A |
T |
7: 80,046,727 (GRCm39) |
N176K |
probably damaging |
Het |
Gabrb3 |
A |
G |
7: 57,442,207 (GRCm39) |
|
probably benign |
Het |
Gabrg2 |
A |
T |
11: 41,811,231 (GRCm39) |
S305T |
probably damaging |
Het |
Gas6 |
G |
T |
8: 13,525,086 (GRCm39) |
S299R |
possibly damaging |
Het |
Gga3 |
G |
T |
11: 115,477,111 (GRCm39) |
|
probably benign |
Het |
Gle1 |
A |
G |
2: 29,826,032 (GRCm39) |
E37G |
possibly damaging |
Het |
Gm7964 |
A |
G |
7: 83,405,350 (GRCm39) |
D80G |
possibly damaging |
Het |
Gne |
C |
T |
4: 44,055,204 (GRCm39) |
|
probably null |
Het |
Grid2 |
G |
T |
6: 64,406,724 (GRCm39) |
G695W |
probably damaging |
Het |
H2-M10.6 |
A |
T |
17: 37,123,425 (GRCm39) |
M40L |
probably benign |
Het |
Hectd4 |
G |
T |
5: 121,460,735 (GRCm39) |
V905L |
possibly damaging |
Het |
Isyna1 |
C |
A |
8: 71,049,412 (GRCm39) |
S441R |
possibly damaging |
Het |
Kcnh3 |
C |
T |
15: 99,139,913 (GRCm39) |
S933L |
probably benign |
Het |
Knl1 |
T |
C |
2: 118,902,832 (GRCm39) |
I1511T |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,704,833 (GRCm39) |
E351G |
probably damaging |
Het |
Lipo4 |
C |
T |
19: 33,478,953 (GRCm39) |
|
probably null |
Het |
Llgl1 |
T |
A |
11: 60,598,036 (GRCm39) |
L360* |
probably null |
Het |
Map2k5 |
G |
A |
9: 63,229,525 (GRCm39) |
R169* |
probably null |
Het |
Muc19 |
A |
T |
15: 91,781,910 (GRCm39) |
|
noncoding transcript |
Het |
Muc4 |
G |
A |
16: 32,754,836 (GRCm38) |
|
probably benign |
Het |
Myh4 |
A |
G |
11: 67,143,490 (GRCm39) |
E1074G |
probably damaging |
Het |
Naip5 |
C |
T |
13: 100,381,639 (GRCm39) |
G210E |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,837,296 (GRCm39) |
S23P |
probably benign |
Het |
Nepro |
T |
A |
16: 44,550,536 (GRCm39) |
M176K |
probably damaging |
Het |
Nlrp6 |
G |
A |
7: 140,504,006 (GRCm39) |
C704Y |
probably damaging |
Het |
Notch1 |
A |
G |
2: 26,361,191 (GRCm39) |
S1100P |
probably benign |
Het |
Nrxn3 |
A |
G |
12: 88,762,352 (GRCm39) |
E133G |
possibly damaging |
Het |
Obi1 |
A |
G |
14: 104,716,252 (GRCm39) |
I707T |
probably damaging |
Het |
Parp9 |
T |
C |
16: 35,777,274 (GRCm39) |
L406S |
probably damaging |
Het |
Peak1 |
G |
T |
9: 56,134,876 (GRCm39) |
A155D |
probably benign |
Het |
Piwil2 |
A |
G |
14: 70,632,811 (GRCm39) |
V587A |
probably benign |
Het |
Pkn2 |
A |
G |
3: 142,509,379 (GRCm39) |
Y722H |
probably damaging |
Het |
Plch2 |
A |
T |
4: 155,073,885 (GRCm39) |
I834K |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,163,951 (GRCm39) |
T795A |
possibly damaging |
Het |
Plekhh1 |
A |
G |
12: 79,097,160 (GRCm39) |
S103G |
probably benign |
Het |
Ppl |
T |
C |
16: 4,922,753 (GRCm39) |
Y246C |
probably damaging |
Het |
Prpf40b |
G |
A |
15: 99,207,726 (GRCm39) |
|
probably benign |
Het |
Prr14l |
A |
G |
5: 32,986,177 (GRCm39) |
L1106P |
probably damaging |
Het |
Ptbp3 |
T |
A |
4: 59,524,443 (GRCm39) |
I28F |
possibly damaging |
Het |
Ptrh2 |
A |
T |
11: 86,580,631 (GRCm39) |
K83* |
probably null |
Het |
Rai1 |
T |
C |
11: 60,077,588 (GRCm39) |
S551P |
probably damaging |
Het |
Rapgefl1 |
A |
T |
11: 98,741,935 (GRCm39) |
Q633L |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,285,245 (GRCm39) |
|
probably benign |
Het |
Rif1 |
T |
A |
2: 51,983,623 (GRCm39) |
|
probably benign |
Het |
Rnf141 |
A |
G |
7: 110,424,557 (GRCm39) |
Y101H |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,061,138 (GRCm39) |
L1102* |
probably null |
Het |
Sall4 |
G |
A |
2: 168,597,637 (GRCm39) |
S401F |
probably damaging |
Het |
Saxo5 |
G |
A |
8: 3,537,148 (GRCm39) |
S498N |
probably damaging |
Het |
Sec11c |
T |
C |
18: 65,934,541 (GRCm39) |
I36T |
probably benign |
Het |
Sel1l |
A |
G |
12: 91,780,828 (GRCm39) |
|
probably benign |
Het |
Setd1a |
T |
C |
7: 127,396,776 (GRCm39) |
|
probably benign |
Het |
Sez6l2 |
C |
T |
7: 126,561,014 (GRCm39) |
P433L |
probably benign |
Het |
Sgf29 |
T |
C |
7: 126,248,547 (GRCm39) |
|
probably benign |
Het |
Slc47a1 |
A |
G |
11: 61,253,520 (GRCm39) |
V305A |
probably benign |
Het |
Slco1a8 |
T |
C |
6: 141,933,492 (GRCm39) |
D431G |
probably damaging |
Het |
Sun2 |
T |
C |
15: 79,612,587 (GRCm39) |
|
probably benign |
Het |
Tecta |
T |
C |
9: 42,286,830 (GRCm39) |
S609G |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,327,880 (GRCm39) |
|
probably null |
Het |
Tns1 |
T |
C |
1: 73,991,774 (GRCm39) |
H968R |
probably benign |
Het |
Tomm34 |
G |
A |
2: 163,896,637 (GRCm39) |
A270V |
probably damaging |
Het |
Tpo |
T |
C |
12: 30,153,364 (GRCm39) |
K330R |
probably benign |
Het |
Ttn |
T |
A |
2: 76,542,837 (GRCm39) |
Y33383F |
probably damaging |
Het |
Unc13c |
G |
T |
9: 73,587,716 (GRCm39) |
A1439D |
probably benign |
Het |
Vcp |
C |
T |
4: 42,993,691 (GRCm39) |
R147H |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,854,612 (GRCm39) |
L2272P |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,042,787 (GRCm39) |
L1988P |
probably damaging |
Het |
Wwc2 |
A |
G |
8: 48,373,713 (GRCm39) |
F51S |
probably damaging |
Het |
Zfp454 |
C |
T |
11: 50,763,980 (GRCm39) |
C373Y |
probably damaging |
Het |
Zfp853 |
A |
T |
5: 143,274,048 (GRCm39) |
V473E |
probably damaging |
Het |
Zfp959 |
A |
T |
17: 56,204,228 (GRCm39) |
R85S |
possibly 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 |
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 |
|
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'- AGACAGACTCTGATCCCAGG -3'
(R):5'- CCATTGGGGTACAGTACTGATC -3'
Sequencing Primer
(F):5'- TCCTGCTCAGGAGAATTC -3'
(R):5'- TGTCTTCCCGGCACCAG -3'
|
Posted On |
2016-03-17 |