Incidental Mutation 'R1538:Piezo1'
ID |
169699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piezo1
|
Ensembl Gene |
ENSMUSG00000014444 |
Gene Name |
piezo-type mechanosensitive ion channel component 1 |
Synonyms |
Fam38a, Piezo1 |
MMRRC Submission |
039577-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1538 (G1)
|
Quality Score |
140 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
123208437-123278068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123218142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 1199
(L1199P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114584
(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: L1198P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: L1198P
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: L760P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116194 Gene: ENSMUSG00000014444 AA Change: L760P
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 |
probably damaging
Transcript: ENSMUST00000148497
AA Change: L548P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121725 Gene: ENSMUSG00000014444 AA Change: L548P
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 damaging
Transcript: ENSMUST00000156333
AA Change: L1199P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: L1199P
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.6%
|
Validation Efficiency |
|
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: 104 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,771,162 (GRCm39) |
R117L |
probably benign |
Het |
4930447C04Rik |
G |
A |
12: 72,928,120 (GRCm39) |
A537V |
possibly damaging |
Het |
4930579F01Rik |
A |
C |
3: 137,889,517 (GRCm39) |
D33E |
probably damaging |
Het |
Acnat1 |
T |
C |
4: 49,447,835 (GRCm39) |
K249E |
possibly damaging |
Het |
Ankrd13a |
T |
C |
5: 114,942,295 (GRCm39) |
I526T |
possibly damaging |
Het |
Aplp1 |
C |
A |
7: 30,135,452 (GRCm39) |
E535D |
probably benign |
Het |
Armc8 |
T |
A |
9: 99,387,343 (GRCm39) |
H425L |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Asprv1 |
C |
T |
6: 86,605,618 (GRCm39) |
Q155* |
probably null |
Het |
Atl1 |
A |
G |
12: 69,972,962 (GRCm39) |
Q94R |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,595,440 (GRCm39) |
L970P |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,973,772 (GRCm39) |
M2514T |
probably benign |
Het |
Cacfd1 |
T |
A |
2: 26,908,951 (GRCm39) |
D97E |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,437,504 (GRCm39) |
L344P |
probably damaging |
Het |
Cacna2d2 |
C |
A |
9: 107,394,615 (GRCm39) |
R596S |
probably damaging |
Het |
Catip |
C |
A |
1: 74,403,811 (GRCm39) |
S176* |
probably null |
Het |
Cdcp1 |
G |
A |
9: 123,002,653 (GRCm39) |
S806L |
probably damaging |
Het |
Cdk6 |
A |
T |
5: 3,570,675 (GRCm39) |
I289L |
probably benign |
Het |
Cers3 |
C |
T |
7: 66,431,571 (GRCm39) |
T182I |
probably damaging |
Het |
Cfap46 |
T |
A |
7: 139,262,924 (GRCm39) |
N43I |
probably null |
Het |
Clec4n |
A |
T |
6: 123,206,992 (GRCm39) |
R5S |
possibly damaging |
Het |
Cnr2 |
G |
T |
4: 135,644,012 (GRCm39) |
S30I |
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,907,170 (GRCm39) |
G870E |
probably damaging |
Het |
Cpne6 |
T |
C |
14: 55,752,677 (GRCm39) |
V289A |
possibly damaging |
Het |
Crym |
G |
A |
7: 119,796,938 (GRCm39) |
L141F |
probably benign |
Het |
Cxxc5 |
T |
C |
18: 35,991,622 (GRCm39) |
S8P |
unknown |
Het |
Dido1 |
A |
C |
2: 180,326,763 (GRCm39) |
S453R |
possibly damaging |
Het |
Dnah2 |
A |
C |
11: 69,368,028 (GRCm39) |
S1770R |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,535,148 (GRCm39) |
V2704A |
possibly damaging |
Het |
Eml5 |
T |
C |
12: 98,760,535 (GRCm39) |
N1738S |
probably damaging |
Het |
Eri3 |
A |
G |
4: 117,439,836 (GRCm39) |
T138A |
possibly damaging |
Het |
Ext2 |
C |
T |
2: 93,537,632 (GRCm39) |
E585K |
probably damaging |
Het |
Fbxw19 |
T |
A |
9: 109,324,056 (GRCm39) |
S38C |
probably damaging |
Het |
Fcgbpl1 |
A |
T |
7: 27,854,917 (GRCm39) |
I1848F |
probably damaging |
Het |
Fmo6 |
G |
A |
1: 162,753,675 (GRCm39) |
P156S |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,339,339 (GRCm39) |
L544P |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,339,764 (GRCm39) |
I686F |
probably benign |
Het |
Gabra1 |
T |
C |
11: 42,031,177 (GRCm39) |
Y251C |
probably benign |
Het |
Gemin4 |
G |
T |
11: 76,101,987 (GRCm39) |
Q925K |
probably benign |
Het |
Gm18856 |
T |
A |
13: 14,139,274 (GRCm39) |
|
probably benign |
Het |
Gnb1 |
A |
T |
4: 155,636,171 (GRCm39) |
T164S |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,497,822 (GRCm39) |
D31G |
possibly damaging |
Het |
Gzmd |
A |
C |
14: 56,367,802 (GRCm39) |
I157S |
probably benign |
Het |
Il31ra |
T |
A |
13: 112,684,000 (GRCm39) |
N43I |
possibly damaging |
Het |
Irak3 |
T |
C |
10: 120,001,035 (GRCm39) |
T297A |
probably benign |
Het |
Kank2 |
T |
C |
9: 21,685,927 (GRCm39) |
D649G |
probably damaging |
Het |
Kif3b |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
2: 153,159,382 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klhl18 |
A |
G |
9: 110,275,815 (GRCm39) |
F111S |
probably damaging |
Het |
Lratd2 |
A |
G |
15: 60,695,498 (GRCm39) |
C83R |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,697,585 (GRCm39) |
S319P |
possibly damaging |
Het |
Mettl15 |
T |
C |
2: 108,962,010 (GRCm39) |
|
probably null |
Het |
Mtarc1 |
T |
C |
1: 184,534,199 (GRCm39) |
E223G |
probably damaging |
Het |
Ncoa1 |
T |
C |
12: 4,320,748 (GRCm39) |
Q1107R |
possibly damaging |
Het |
Ncoa7 |
T |
G |
10: 30,570,207 (GRCm39) |
M251L |
probably damaging |
Het |
Nos2 |
A |
T |
11: 78,847,396 (GRCm39) |
M1023L |
probably benign |
Het |
Nup107 |
T |
C |
10: 117,626,399 (GRCm39) |
K25E |
probably damaging |
Het |
Or10q1b |
A |
T |
19: 13,682,860 (GRCm39) |
Y223F |
probably damaging |
Het |
Or52s1b |
A |
G |
7: 102,822,193 (GRCm39) |
I217T |
probably damaging |
Het |
Or5k14 |
T |
A |
16: 58,693,261 (GRCm39) |
N84I |
probably damaging |
Het |
Or5p58 |
T |
A |
7: 107,694,493 (GRCm39) |
I95F |
probably damaging |
Het |
Or6b6 |
A |
T |
7: 106,571,190 (GRCm39) |
Y120* |
probably null |
Het |
Or6c206 |
T |
C |
10: 129,097,082 (GRCm39) |
I84T |
probably damaging |
Het |
Parm1 |
G |
A |
5: 91,742,306 (GRCm39) |
E225K |
possibly damaging |
Het |
Pdzd2 |
A |
C |
15: 12,373,047 (GRCm39) |
S2363A |
probably damaging |
Het |
Prpsap1 |
A |
T |
11: 116,370,534 (GRCm39) |
M141K |
probably benign |
Het |
Prss29 |
A |
T |
17: 25,539,257 (GRCm39) |
M1L |
possibly damaging |
Het |
Pter |
T |
A |
2: 12,983,417 (GRCm39) |
S141T |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,501,662 (GRCm39) |
D1181E |
probably damaging |
Het |
Rab3ip |
T |
A |
10: 116,775,159 (GRCm39) |
Q66H |
probably damaging |
Het |
Rgs12 |
A |
T |
5: 35,178,511 (GRCm39) |
T779S |
probably damaging |
Het |
Rgs22 |
A |
G |
15: 36,048,922 (GRCm39) |
F786S |
probably damaging |
Het |
Rnasel |
A |
T |
1: 153,636,540 (GRCm39) |
D640V |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,415,899 (GRCm39) |
T1738A |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,447,508 (GRCm39) |
S3185P |
probably damaging |
Het |
Scnn1a |
T |
A |
6: 125,315,856 (GRCm39) |
D321E |
possibly damaging |
Het |
Sec31b |
G |
C |
19: 44,507,025 (GRCm39) |
L1014V |
probably benign |
Het |
Serpinb10 |
A |
G |
1: 107,468,690 (GRCm39) |
Y111C |
probably damaging |
Het |
Shld2 |
C |
G |
14: 33,990,833 (GRCm39) |
Q24H |
probably damaging |
Het |
Siglecg |
A |
G |
7: 43,067,313 (GRCm39) |
K627E |
possibly damaging |
Het |
Sigmar1 |
T |
C |
4: 41,740,845 (GRCm39) |
I95V |
probably benign |
Het |
Sirpb1b |
T |
A |
3: 15,613,819 (GRCm39) |
T88S |
possibly damaging |
Het |
Spire2 |
T |
G |
8: 124,084,895 (GRCm39) |
L245R |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,527,192 (GRCm39) |
P1150T |
probably benign |
Het |
Stat6 |
C |
A |
10: 127,489,125 (GRCm39) |
T380N |
probably damaging |
Het |
Sult3a1 |
G |
A |
10: 33,746,166 (GRCm39) |
G162E |
probably benign |
Het |
Surf4 |
T |
C |
2: 26,823,710 (GRCm39) |
|
probably null |
Het |
Tacc2 |
T |
C |
7: 130,227,149 (GRCm39) |
M1278T |
probably benign |
Het |
Tacr2 |
T |
A |
10: 62,097,106 (GRCm39) |
|
probably null |
Het |
Tcaf1 |
A |
T |
6: 42,655,923 (GRCm39) |
V351E |
probably damaging |
Het |
Tmcc2 |
A |
G |
1: 132,308,718 (GRCm39) |
S59P |
probably damaging |
Het |
Tmem17 |
G |
A |
11: 22,467,266 (GRCm39) |
S60N |
possibly damaging |
Het |
Tmem63b |
C |
G |
17: 45,989,904 (GRCm39) |
R88P |
possibly damaging |
Het |
Tmprss7 |
A |
T |
16: 45,499,753 (GRCm39) |
I307N |
probably benign |
Het |
Treml2 |
A |
T |
17: 48,609,786 (GRCm39) |
T73S |
possibly damaging |
Het |
Trrap |
A |
G |
5: 144,774,012 (GRCm39) |
H2876R |
possibly damaging |
Het |
Tyw3 |
A |
G |
3: 154,302,506 (GRCm39) |
I53T |
probably damaging |
Het |
Ugp2 |
A |
G |
11: 21,283,791 (GRCm39) |
I92T |
possibly damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,644,166 (GRCm39) |
M748K |
possibly damaging |
Het |
Vmn2r82 |
T |
C |
10: 79,192,578 (GRCm39) |
S52P |
possibly damaging |
Het |
Wdr37 |
A |
T |
13: 8,886,828 (GRCm39) |
S320T |
probably benign |
Het |
Zbtb16 |
A |
T |
9: 48,743,583 (GRCm39) |
M243K |
probably benign |
Het |
Zfr |
C |
T |
15: 12,150,329 (GRCm39) |
T432I |
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 |
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 |
123,213,678 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4749:Piezo1
|
UTSW |
8 |
123,224,945 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- TCTGCATTTGCTCCACGAAGACAC -3'
(R):5'- TGAAGCACTCGCTAAAGGGCTG -3'
Sequencing Primer
(F):5'- GCTCCACGAAGACACAGGAC -3'
(R):5'- TGTCTGGGGTAACCCAGTAAC -3'
|
Posted On |
2014-04-13 |