Incidental Mutation 'R4688:Piezo1'
ID |
353871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piezo1
|
Ensembl Gene |
ENSMUSG00000014444 |
Gene Name |
piezo-type mechanosensitive ion channel component 1 |
Synonyms |
Fam38a, Piezo1 |
MMRRC Submission |
041939-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4688 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
123208437-123278068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 123215278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 1444
(W1444R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067252]
[ENSMUST00000127664]
[ENSMUST00000128383]
[ENSMUST00000156333]
[ENSMUST00000151855]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067252
AA Change: W1444R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: W1444R
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 |
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 |
unknown
Transcript: ENSMUST00000128383
AA Change: H1002Q
|
SMART Domains |
Protein: ENSMUSP00000116194 Gene: ENSMUSG00000014444 AA Change: H1002Q
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: W794R
|
SMART Domains |
Protein: ENSMUSP00000121725 Gene: ENSMUSG00000014444 AA Change: W794R
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: W1445R
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: W1445R
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: ENSMUST00000152596
|
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 96 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,139,680 (GRCm39) |
N535S |
probably damaging |
Het |
Abcc12 |
T |
C |
8: 87,275,323 (GRCm39) |
S452G |
possibly damaging |
Het |
Acacb |
C |
A |
5: 114,342,824 (GRCm39) |
Q897K |
probably benign |
Het |
Acot3 |
C |
A |
12: 84,100,691 (GRCm39) |
R145S |
probably damaging |
Het |
Ankrd54 |
A |
T |
15: 78,938,782 (GRCm39) |
Y247N |
probably damaging |
Het |
Arl11 |
G |
A |
14: 61,548,546 (GRCm39) |
V119I |
probably benign |
Het |
Atosb |
A |
G |
4: 43,034,663 (GRCm39) |
F352S |
probably damaging |
Het |
Atxn7 |
T |
A |
14: 14,089,288 (GRCm38) |
M268K |
probably benign |
Het |
Bms1 |
G |
A |
6: 118,369,667 (GRCm39) |
R934C |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,694,501 (GRCm39) |
I1664T |
probably benign |
Het |
Chrnb3 |
T |
C |
8: 27,884,147 (GRCm39) |
S295P |
probably damaging |
Het |
Cic |
TCCCCC |
TCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably null |
Het |
Cnr1 |
A |
T |
4: 33,944,571 (GRCm39) |
I320F |
probably benign |
Het |
Cntn4 |
C |
T |
6: 106,414,910 (GRCm39) |
P147L |
probably damaging |
Het |
Col24a1 |
G |
A |
3: 145,020,144 (GRCm39) |
V172I |
probably benign |
Het |
Col9a3 |
A |
G |
2: 180,249,424 (GRCm39) |
D262G |
probably damaging |
Het |
Csrnp2 |
A |
G |
15: 100,380,241 (GRCm39) |
V350A |
probably damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,173,592 (GRCm39) |
V192A |
possibly damaging |
Het |
Deptor |
A |
G |
15: 55,072,177 (GRCm39) |
M219V |
probably benign |
Het |
Dmrtb1 |
A |
T |
4: 107,541,247 (GRCm39) |
L38Q |
probably damaging |
Het |
Dvl2 |
G |
A |
11: 69,898,344 (GRCm39) |
R367Q |
possibly damaging |
Het |
Dync1h1 |
T |
G |
12: 110,621,962 (GRCm39) |
I3435S |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
Eif2b3 |
A |
G |
4: 116,916,046 (GRCm39) |
N218D |
probably benign |
Het |
Epha2 |
A |
G |
4: 141,046,292 (GRCm39) |
D497G |
probably benign |
Het |
Epha7 |
G |
T |
4: 28,821,367 (GRCm39) |
L177F |
probably damaging |
Het |
Fam98c |
C |
T |
7: 28,854,666 (GRCm39) |
E147K |
probably damaging |
Het |
Fbxo17 |
A |
G |
7: 28,431,979 (GRCm39) |
T19A |
probably benign |
Het |
Fbxo47 |
A |
G |
11: 97,747,049 (GRCm39) |
F339S |
probably damaging |
Het |
Frmd4a |
G |
T |
2: 4,542,122 (GRCm39) |
V234L |
possibly damaging |
Het |
Gal3st2 |
A |
G |
1: 93,800,245 (GRCm39) |
D32G |
probably damaging |
Het |
Gpr135 |
T |
C |
12: 72,117,720 (GRCm39) |
T16A |
probably benign |
Het |
Gpr160 |
A |
T |
3: 30,950,835 (GRCm39) |
R302S |
probably benign |
Het |
Hrh2 |
C |
A |
13: 54,368,820 (GRCm39) |
N265K |
probably benign |
Het |
Htatip2 |
C |
A |
7: 49,423,171 (GRCm39) |
A242E |
probably damaging |
Het |
Igfbp7 |
T |
C |
5: 77,555,482 (GRCm39) |
Y127C |
probably damaging |
Het |
Igkv16-104 |
A |
G |
6: 68,402,878 (GRCm39) |
Q57R |
possibly damaging |
Het |
Ino80c |
A |
G |
18: 24,241,903 (GRCm39) |
S161P |
probably damaging |
Het |
Itprid1 |
G |
A |
6: 55,944,132 (GRCm39) |
|
probably null |
Het |
Kcnc1 |
A |
G |
7: 46,047,259 (GRCm39) |
D53G |
probably benign |
Het |
Khdc4 |
T |
A |
3: 88,593,824 (GRCm39) |
M71K |
probably damaging |
Het |
Lce1h |
G |
T |
3: 92,670,874 (GRCm39) |
R93S |
unknown |
Het |
Lce1k |
T |
C |
3: 92,713,951 (GRCm39) |
S78G |
unknown |
Het |
Lhcgr |
T |
A |
17: 89,072,580 (GRCm39) |
I156F |
probably damaging |
Het |
Lpl |
T |
C |
8: 69,352,077 (GRCm39) |
Y343H |
probably damaging |
Het |
Lrp6 |
G |
T |
6: 134,456,706 (GRCm39) |
R853S |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,854,242 (GRCm39) |
V1322A |
probably damaging |
Het |
Lrrc74a |
C |
T |
12: 86,784,472 (GRCm39) |
Q67* |
probably null |
Het |
Megf6 |
A |
T |
4: 154,338,271 (GRCm39) |
D447V |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,793,139 (GRCm39) |
D355G |
possibly damaging |
Het |
Ncoa1 |
T |
C |
12: 4,365,781 (GRCm39) |
D95G |
probably benign |
Het |
Npepl1 |
A |
T |
2: 173,956,235 (GRCm39) |
I139F |
possibly damaging |
Het |
Nrcam |
T |
C |
12: 44,594,020 (GRCm39) |
S262P |
probably benign |
Het |
Nrp1 |
A |
G |
8: 129,229,047 (GRCm39) |
N842D |
probably benign |
Het |
Olfml3 |
A |
G |
3: 103,639,497 (GRCm39) |
|
probably benign |
Het |
Or1x6 |
A |
G |
11: 50,939,815 (GRCm39) |
R294G |
probably damaging |
Het |
Or4b1d |
T |
A |
2: 89,969,343 (GRCm39) |
N47Y |
possibly damaging |
Het |
Or6b6 |
T |
A |
7: 106,571,068 (GRCm39) |
Y161F |
probably benign |
Het |
Or6c204 |
G |
A |
10: 129,022,514 (GRCm39) |
P259S |
probably damaging |
Het |
Or6k8-ps1 |
T |
C |
1: 173,979,162 (GRCm39) |
Y27H |
possibly damaging |
Het |
Or8b3b |
A |
G |
9: 38,584,659 (GRCm39) |
L27P |
probably damaging |
Het |
Or9i1b |
A |
T |
19: 13,896,605 (GRCm39) |
T74S |
probably benign |
Het |
Pde2a |
A |
G |
7: 101,152,041 (GRCm39) |
N316S |
probably benign |
Het |
Pde4dip |
T |
A |
3: 97,750,993 (GRCm39) |
R74* |
probably null |
Het |
Pex13 |
A |
T |
11: 23,605,472 (GRCm39) |
W253R |
possibly damaging |
Het |
Pla2g4e |
T |
C |
2: 119,998,414 (GRCm39) |
K843R |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,326,753 (GRCm39) |
P229L |
probably damaging |
Het |
Prelid3b |
G |
T |
2: 174,308,592 (GRCm39) |
T131K |
probably benign |
Het |
Pros1 |
T |
C |
16: 62,709,370 (GRCm39) |
|
probably null |
Het |
Prrc2c |
G |
T |
1: 162,525,256 (GRCm39) |
P450Q |
unknown |
Het |
Ptbp1 |
G |
T |
10: 79,692,342 (GRCm39) |
V5F |
possibly damaging |
Het |
Ptk2 |
T |
A |
15: 73,078,074 (GRCm39) |
L997F |
probably damaging |
Het |
Rims1 |
G |
T |
1: 22,518,528 (GRCm39) |
S525* |
probably null |
Het |
Sanbr |
A |
G |
11: 23,543,449 (GRCm39) |
S530P |
probably benign |
Het |
Sh2b3 |
T |
A |
5: 121,956,697 (GRCm39) |
D318V |
probably benign |
Het |
Slc16a13 |
A |
T |
11: 70,111,101 (GRCm39) |
I88N |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,414,345 (GRCm39) |
|
probably null |
Het |
Snx10 |
A |
G |
6: 51,556,918 (GRCm39) |
N67S |
probably damaging |
Het |
Stil |
A |
G |
4: 114,898,505 (GRCm39) |
Y1045C |
probably damaging |
Het |
Stra6 |
A |
G |
9: 58,042,359 (GRCm39) |
|
probably null |
Het |
Sympk |
A |
G |
7: 18,788,335 (GRCm39) |
S1254G |
probably benign |
Het |
Syt15 |
G |
T |
14: 33,950,011 (GRCm39) |
G377V |
probably damaging |
Het |
Taar4 |
A |
T |
10: 23,836,731 (GRCm39) |
I114F |
probably damaging |
Het |
Tcaf3 |
G |
A |
6: 42,570,300 (GRCm39) |
|
probably null |
Het |
Tgm7 |
A |
T |
2: 120,924,502 (GRCm39) |
N558K |
probably benign |
Het |
Tln2 |
T |
G |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
Trim50 |
C |
T |
5: 135,395,994 (GRCm39) |
T314I |
probably damaging |
Het |
Trp53rka |
A |
T |
2: 165,333,312 (GRCm39) |
Y192* |
probably null |
Het |
Ube3b |
T |
C |
5: 114,531,139 (GRCm39) |
V211A |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,132,138 (GRCm39) |
S787G |
probably benign |
Het |
Vmn1r189 |
T |
C |
13: 22,286,289 (GRCm39) |
M183V |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,904,782 (GRCm39) |
Q115K |
probably benign |
Het |
Zfp358 |
A |
G |
8: 3,545,493 (GRCm39) |
D25G |
probably damaging |
Het |
Zfp521 |
T |
G |
18: 13,977,647 (GRCm39) |
K922T |
probably damaging |
Het |
Zfp521 |
T |
A |
18: 13,977,648 (GRCm39) |
K922* |
probably null |
Het |
Zfp68 |
T |
A |
5: 138,614,743 (GRCm39) |
K4* |
probably null |
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 |
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'- ACATCTGGGTTCAAGTCACC -3'
(R):5'- TGTCCATCTTTGAGGCCCTG -3'
Sequencing Primer
(F):5'- TGGGTTCAAGTCACCTCCTGG -3'
(R):5'- CTCTGGAGACCATTTCCAGAGAG -3'
|
Posted On |
2015-10-21 |