Incidental Mutation 'R1899:Piezo1'
ID |
214098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piezo1
|
Ensembl Gene |
ENSMUSG00000014444 |
Gene Name |
piezo-type mechanosensitive ion channel component 1 |
Synonyms |
Fam38a, Piezo1 |
MMRRC Submission |
039919-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1899 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
123208437-123278068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123216305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1401
(D1401G)
|
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: D1401G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: D1401G
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 |
noncoding transcript
Transcript: ENSMUST00000123671
|
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
AA Change: T960A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116194 Gene: ENSMUSG00000014444 AA Change: T960A
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: D751G
|
SMART Domains |
Protein: ENSMUSP00000121725 Gene: ENSMUSG00000014444 AA Change: D751G
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 |
noncoding transcript
Transcript: ENSMUST00000152596
|
Predicted Effect |
unknown
Transcript: ENSMUST00000156333
AA Change: D1402G
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: D1402G
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 |
0.1263 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.4%
|
Validation Efficiency |
94% (94/100) |
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: 97 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
T |
A |
5: 109,884,664 (GRCm39) |
Q398L |
probably benign |
Het |
4930596D02Rik |
T |
G |
14: 35,532,089 (GRCm39) |
K162T |
probably damaging |
Het |
Abca8b |
G |
T |
11: 109,828,744 (GRCm39) |
T1353K |
possibly damaging |
Het |
Abcg3 |
A |
C |
5: 105,086,065 (GRCm39) |
C565G |
probably damaging |
Het |
Actr3b |
G |
A |
5: 26,034,536 (GRCm39) |
V185I |
possibly damaging |
Het |
Akap6 |
A |
T |
12: 53,188,635 (GRCm39) |
E2016D |
possibly damaging |
Het |
Aldh3b2 |
T |
C |
19: 4,028,662 (GRCm39) |
V148A |
possibly damaging |
Het |
Ankfy1 |
C |
T |
11: 72,645,233 (GRCm39) |
Q771* |
probably null |
Het |
Anks1b |
A |
G |
10: 90,096,618 (GRCm39) |
D425G |
probably damaging |
Het |
Arrb1 |
T |
C |
7: 99,231,504 (GRCm39) |
|
probably benign |
Het |
Atg2a |
C |
A |
19: 6,295,097 (GRCm39) |
T170N |
probably damaging |
Het |
Atp8b5 |
C |
T |
4: 43,361,804 (GRCm39) |
R617C |
possibly damaging |
Het |
Bicra |
T |
C |
7: 15,721,676 (GRCm39) |
T614A |
possibly damaging |
Het |
Cacna1i |
A |
G |
15: 80,275,843 (GRCm39) |
D167G |
possibly damaging |
Het |
Calr4 |
T |
G |
4: 109,103,490 (GRCm39) |
|
probably null |
Het |
Camsap3 |
G |
T |
8: 3,653,922 (GRCm39) |
E515* |
probably null |
Het |
Casp8ap2 |
T |
C |
4: 32,643,647 (GRCm39) |
S907P |
probably damaging |
Het |
Cdk19 |
T |
A |
10: 40,355,776 (GRCm39) |
|
probably benign |
Het |
Chst14 |
A |
G |
2: 118,757,496 (GRCm39) |
M122V |
possibly damaging |
Het |
Cntn4 |
A |
G |
6: 106,652,774 (GRCm39) |
M748V |
probably benign |
Het |
Col7a1 |
A |
G |
9: 108,807,956 (GRCm39) |
D2552G |
unknown |
Het |
Cpeb2 |
C |
A |
5: 43,434,930 (GRCm39) |
P600Q |
probably damaging |
Het |
Cyp2a5 |
C |
T |
7: 26,538,458 (GRCm39) |
R274* |
probably null |
Het |
Dele1 |
T |
C |
18: 38,391,395 (GRCm39) |
W378R |
probably benign |
Het |
Dexi |
A |
G |
16: 10,360,382 (GRCm39) |
F58S |
probably damaging |
Het |
Dlg5 |
C |
A |
14: 24,198,368 (GRCm39) |
G1522W |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,244,286 (GRCm39) |
H1048R |
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,175,394 (GRCm39) |
|
probably benign |
Het |
Dusp10 |
A |
T |
1: 183,801,377 (GRCm39) |
K381N |
possibly damaging |
Het |
Ercc4 |
A |
G |
16: 12,965,651 (GRCm39) |
E761G |
probably damaging |
Het |
Ern2 |
T |
C |
7: 121,783,065 (GRCm39) |
|
probably benign |
Het |
Fam83f |
A |
T |
15: 80,576,281 (GRCm39) |
T311S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,153,004 (GRCm39) |
D3736G |
probably benign |
Het |
Fgf11 |
G |
T |
11: 69,692,279 (GRCm39) |
T58K |
probably benign |
Het |
Galntl5 |
C |
G |
5: 25,403,530 (GRCm39) |
S167* |
probably null |
Het |
Glg1 |
T |
G |
8: 111,892,306 (GRCm39) |
E846D |
probably benign |
Het |
Grm8 |
C |
A |
6: 28,125,894 (GRCm39) |
E77D |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,533,202 (GRCm39) |
D3028E |
probably damaging |
Het |
Htt |
A |
G |
5: 35,064,429 (GRCm39) |
I2943V |
probably benign |
Het |
Ift80 |
T |
C |
3: 68,825,846 (GRCm39) |
K498R |
probably benign |
Het |
Ipo9 |
A |
T |
1: 135,327,884 (GRCm39) |
M509K |
probably damaging |
Het |
Kcnj3 |
T |
C |
2: 55,327,256 (GRCm39) |
V15A |
probably damaging |
Het |
Kcnn3 |
A |
T |
3: 89,427,762 (GRCm39) |
|
probably benign |
Het |
Larp1b |
T |
A |
3: 40,918,519 (GRCm39) |
D53E |
probably benign |
Het |
Ltf |
T |
C |
9: 110,851,913 (GRCm39) |
F117L |
possibly damaging |
Het |
Maml1 |
A |
G |
11: 50,156,957 (GRCm39) |
L406P |
probably damaging |
Het |
Mnx1 |
G |
A |
5: 29,678,955 (GRCm39) |
A376V |
unknown |
Het |
Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
Mrpl4 |
A |
G |
9: 20,918,127 (GRCm39) |
Y111C |
probably damaging |
Het |
Mto1 |
T |
C |
9: 78,368,799 (GRCm39) |
|
probably benign |
Het |
Nalcn |
A |
T |
14: 123,553,538 (GRCm39) |
M972K |
possibly damaging |
Het |
Nemf |
T |
C |
12: 69,393,152 (GRCm39) |
I225V |
probably null |
Het |
Nipal4 |
T |
G |
11: 46,041,058 (GRCm39) |
D379A |
probably damaging |
Het |
Nktr |
A |
G |
9: 121,577,932 (GRCm39) |
|
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,104,222 (GRCm39) |
T28A |
probably benign |
Het |
Nxph1 |
T |
A |
6: 9,247,622 (GRCm39) |
Y198N |
probably damaging |
Het |
Or4c123 |
T |
C |
2: 89,127,014 (GRCm39) |
N200S |
probably damaging |
Het |
Or5an10 |
T |
C |
19: 12,275,707 (GRCm39) |
Y263C |
probably damaging |
Het |
Or8u10 |
A |
T |
2: 85,916,064 (GRCm39) |
V19D |
probably benign |
Het |
P2rx7 |
A |
G |
5: 122,811,799 (GRCm39) |
Y370C |
probably benign |
Het |
Plxnd1 |
A |
G |
6: 115,946,324 (GRCm39) |
L879P |
probably benign |
Het |
Polr2a |
A |
T |
11: 69,634,772 (GRCm39) |
I636N |
probably damaging |
Het |
Prex2 |
G |
T |
1: 11,232,590 (GRCm39) |
E886* |
probably null |
Het |
Proca1 |
A |
T |
11: 78,095,847 (GRCm39) |
I73F |
probably damaging |
Het |
Prss55 |
A |
T |
14: 64,316,839 (GRCm39) |
V101E |
probably benign |
Het |
Psg26 |
T |
A |
7: 18,212,350 (GRCm39) |
H335L |
probably benign |
Het |
Rai1 |
A |
G |
11: 60,076,746 (GRCm39) |
E270G |
probably benign |
Het |
Reep1 |
A |
G |
6: 71,757,781 (GRCm39) |
N127D |
probably benign |
Het |
Rims1 |
G |
T |
1: 22,498,725 (GRCm39) |
P769Q |
probably damaging |
Het |
Robo4 |
A |
T |
9: 37,315,366 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,606,222 (GRCm39) |
D888E |
probably benign |
Het |
Scamp3 |
A |
G |
3: 89,087,567 (GRCm39) |
N135D |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema4f |
A |
G |
6: 82,895,010 (GRCm39) |
M395T |
probably benign |
Het |
Sgip1 |
T |
C |
4: 102,825,534 (GRCm39) |
|
probably null |
Het |
Sik2 |
A |
T |
9: 50,906,974 (GRCm39) |
|
probably benign |
Het |
Smtn |
G |
T |
11: 3,481,326 (GRCm39) |
A223D |
possibly damaging |
Het |
Spen |
T |
C |
4: 141,197,654 (GRCm39) |
T3405A |
probably benign |
Het |
Srebf1 |
A |
G |
11: 60,094,312 (GRCm39) |
L601P |
probably damaging |
Het |
Srsf11 |
A |
T |
3: 157,737,217 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
T |
G |
7: 130,225,932 (GRCm39) |
S891R |
possibly damaging |
Het |
Tbc1d17 |
T |
A |
7: 44,491,057 (GRCm39) |
|
probably benign |
Het |
Tgfbr3l |
C |
A |
8: 4,299,600 (GRCm39) |
R128S |
probably damaging |
Het |
Thsd1 |
G |
A |
8: 22,742,334 (GRCm39) |
|
probably benign |
Het |
Tlx3 |
T |
C |
11: 33,153,072 (GRCm39) |
S130G |
probably benign |
Het |
Tmem25 |
A |
T |
9: 44,709,513 (GRCm39) |
|
probably null |
Het |
Trak2 |
A |
T |
1: 58,985,495 (GRCm39) |
M1K |
probably null |
Het |
Trappc12 |
C |
T |
12: 28,796,984 (GRCm39) |
E183K |
probably damaging |
Het |
Ubl3 |
A |
G |
5: 148,446,090 (GRCm39) |
V71A |
possibly damaging |
Het |
Unc50 |
A |
G |
1: 37,477,880 (GRCm39) |
Y254C |
probably damaging |
Het |
Unkl |
T |
C |
17: 25,448,434 (GRCm39) |
|
probably null |
Het |
Uso1 |
T |
A |
5: 92,349,051 (GRCm39) |
S819T |
probably benign |
Het |
Yes1 |
A |
T |
5: 32,802,395 (GRCm39) |
R103S |
probably damaging |
Het |
Zfp131 |
A |
G |
13: 120,228,561 (GRCm39) |
V396A |
probably damaging |
Het |
Zfp553 |
T |
C |
7: 126,834,826 (GRCm39) |
I127T |
possibly damaging |
Het |
Zfp599 |
A |
T |
9: 22,162,845 (GRCm39) |
N102K |
probably benign |
Het |
Zmynd10 |
A |
T |
9: 107,427,236 (GRCm39) |
Q288L |
probably benign |
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 |
123,209,384 (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 |
|
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'- CACATGCTCCTACTTGAGTGC -3'
(R):5'- TGGCACCACATGGAACCTTG -3'
Sequencing Primer
(F):5'- GAGTGCCACCCTTCCCACTAG -3'
(R):5'- ACATGGAACCTTGCCACTGG -3'
|
Posted On |
2014-07-14 |