Incidental Mutation 'R4614:Piezo1'
ID |
344951 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piezo1
|
Ensembl Gene |
ENSMUSG00000014444 |
Gene Name |
piezo-type mechanosensitive ion channel component 1 |
Synonyms |
Fam38a, Piezo1 |
MMRRC Submission |
041825-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4614 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
123208437-123278068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 123213150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1871
(I1871N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067252]
[ENSMUST00000116412]
[ENSMUST00000127664]
[ENSMUST00000128383]
[ENSMUST00000156333]
[ENSMUST00000136253]
[ENSMUST00000151855]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067252
AA Change: I1870N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: I1870N
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 |
noncoding transcript
Transcript: ENSMUST00000131934
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156333
AA Change: I1871N
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: I1871N
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: ENSMUST00000154099
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155803
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152596
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148497
|
SMART Domains |
Protein: ENSMUSP00000121725 Gene: ENSMUSG00000014444
Domain | Start | End | E-Value | Type |
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
low complexity region
|
86 |
101 |
N/A |
INTRINSIC |
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
transmembrane domain
|
351 |
373 |
N/A |
INTRINSIC |
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
transmembrane domain
|
505 |
522 |
N/A |
INTRINSIC |
transmembrane domain
|
529 |
548 |
N/A |
INTRINSIC |
Pfam:PIEZO
|
580 |
809 |
3.2e-98 |
PFAM |
low complexity region
|
826 |
837 |
N/A |
INTRINSIC |
low complexity region
|
1003 |
1020 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1063 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136253
|
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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (95/97) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
G |
13: 77,402,375 (GRCm39) |
|
probably null |
Het |
4932414N04Rik |
C |
A |
2: 68,575,804 (GRCm39) |
T701K |
probably benign |
Het |
Abcb11 |
A |
T |
2: 69,115,025 (GRCm39) |
H640Q |
possibly damaging |
Het |
Ago2 |
C |
T |
15: 73,002,816 (GRCm39) |
V139M |
probably damaging |
Het |
Apol11a |
A |
T |
15: 77,400,772 (GRCm39) |
K86N |
probably benign |
Het |
Ass1 |
T |
C |
2: 31,404,795 (GRCm39) |
Y359H |
probably damaging |
Het |
Bpifa3 |
A |
T |
2: 153,978,200 (GRCm39) |
N34I |
probably damaging |
Het |
Brwd1 |
A |
T |
16: 95,848,559 (GRCm39) |
L540H |
probably damaging |
Het |
C3ar1 |
G |
A |
6: 122,827,680 (GRCm39) |
S179F |
probably benign |
Het |
Ccnb1ip1 |
T |
C |
14: 51,029,652 (GRCm39) |
T137A |
probably benign |
Het |
Cd5l |
A |
G |
3: 87,275,926 (GRCm39) |
T299A |
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,140,603 (GRCm39) |
|
probably benign |
Het |
Cep290 |
T |
C |
10: 100,344,602 (GRCm39) |
M480T |
probably benign |
Het |
Cep290 |
G |
A |
10: 100,395,549 (GRCm39) |
R2112K |
possibly damaging |
Het |
Chn2 |
G |
A |
6: 54,267,388 (GRCm39) |
M292I |
probably damaging |
Het |
Cic |
TCCCCC |
TCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably null |
Het |
Cpeb1 |
A |
T |
7: 81,086,018 (GRCm39) |
D41E |
possibly damaging |
Het |
Csf2rb2 |
C |
G |
15: 78,175,902 (GRCm39) |
C184S |
probably damaging |
Het |
Ctsc |
G |
A |
7: 87,927,583 (GRCm39) |
|
probably null |
Het |
Cyp2c40 |
G |
A |
19: 39,792,300 (GRCm39) |
S191L |
probably damaging |
Het |
Dagla |
T |
C |
19: 10,225,641 (GRCm39) |
E841G |
probably damaging |
Het |
Dld |
A |
T |
12: 31,383,944 (GRCm39) |
Y386* |
probably null |
Het |
Dpp8 |
G |
A |
9: 64,973,678 (GRCm39) |
S634N |
probably benign |
Het |
Duox2 |
A |
T |
2: 122,120,038 (GRCm39) |
V824E |
probably damaging |
Het |
Dync2h1 |
A |
C |
9: 7,011,290 (GRCm39) |
S3634R |
probably benign |
Het |
Eef1d |
T |
C |
15: 75,775,425 (GRCm39) |
N78S |
probably benign |
Het |
Fcrl5 |
T |
A |
3: 87,355,733 (GRCm39) |
I482N |
probably damaging |
Het |
Fezf1 |
A |
T |
6: 23,247,857 (GRCm39) |
C73S |
possibly damaging |
Het |
Fgfr1 |
A |
G |
8: 26,047,813 (GRCm39) |
D53G |
probably benign |
Het |
Fmn1 |
T |
C |
2: 113,195,494 (GRCm39) |
L398S |
unknown |
Het |
Gm17175 |
T |
C |
14: 51,809,042 (GRCm39) |
Q108R |
probably benign |
Het |
Gm28042 |
G |
A |
2: 119,871,639 (GRCm39) |
G669D |
probably damaging |
Het |
Gm6185 |
A |
G |
1: 161,050,669 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2g |
A |
T |
19: 55,190,579 (GRCm39) |
C1018* |
probably null |
Het |
H2-Q10 |
A |
T |
17: 35,784,917 (GRCm39) |
|
probably benign |
Het |
H2-T22 |
T |
G |
17: 36,351,429 (GRCm39) |
Q267P |
probably benign |
Het |
Hibadh |
A |
G |
6: 52,523,915 (GRCm39) |
Y328H |
possibly damaging |
Het |
Hsd3b3 |
T |
A |
3: 98,649,396 (GRCm39) |
Y309F |
probably benign |
Het |
Ighv1-37 |
C |
T |
12: 114,859,863 (GRCm39) |
A116T |
probably benign |
Het |
Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
Igkv8-21 |
A |
T |
6: 70,292,141 (GRCm39) |
S34T |
probably benign |
Het |
Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
Iqch |
A |
G |
9: 63,389,863 (GRCm39) |
M733T |
probably benign |
Het |
Jakmip2 |
T |
A |
18: 43,695,657 (GRCm39) |
D539V |
probably damaging |
Het |
Lgi2 |
A |
G |
5: 52,695,775 (GRCm39) |
S395P |
probably damaging |
Het |
Lrrc40 |
A |
T |
3: 157,760,271 (GRCm39) |
N344I |
probably damaging |
Het |
Ltbp1 |
G |
A |
17: 75,596,989 (GRCm39) |
|
probably benign |
Het |
Metap1d |
C |
T |
2: 71,355,292 (GRCm39) |
P332L |
probably benign |
Het |
Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
Mis18bp1 |
T |
A |
12: 65,200,303 (GRCm39) |
|
probably benign |
Het |
Mta2 |
T |
C |
19: 8,925,492 (GRCm39) |
|
probably null |
Het |
Mtmr4 |
T |
C |
11: 87,501,761 (GRCm39) |
L548S |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,577,432 (GRCm39) |
K241E |
probably benign |
Het |
Mup18 |
T |
A |
4: 61,590,154 (GRCm39) |
I125F |
possibly damaging |
Het |
Nfs1 |
A |
G |
2: 155,985,970 (GRCm39) |
S31P |
probably benign |
Het |
Or10g6 |
T |
A |
9: 39,934,255 (GRCm39) |
C189S |
probably damaging |
Het |
Or10z1 |
A |
G |
1: 174,078,188 (GRCm39) |
F102L |
possibly damaging |
Het |
Or2f1b |
G |
T |
6: 42,739,352 (GRCm39) |
R122L |
probably benign |
Het |
Otogl |
A |
T |
10: 107,727,985 (GRCm39) |
C245* |
probably null |
Het |
Pcdhb16 |
G |
A |
18: 37,613,398 (GRCm39) |
G786D |
probably benign |
Het |
Pdcd5 |
C |
T |
7: 35,346,472 (GRCm39) |
|
probably benign |
Het |
Phkg2 |
C |
T |
7: 127,176,792 (GRCm39) |
R61W |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
Plxnd1 |
T |
C |
6: 115,949,486 (GRCm39) |
T767A |
possibly damaging |
Het |
Polr3c |
T |
G |
3: 96,623,787 (GRCm39) |
I322L |
probably benign |
Het |
Ppp1r26 |
C |
A |
2: 28,340,860 (GRCm39) |
H163Q |
probably benign |
Het |
Prox1 |
T |
G |
1: 189,894,205 (GRCm39) |
Y80S |
probably damaging |
Het |
Pygl |
T |
C |
12: 70,257,753 (GRCm39) |
|
probably null |
Het |
Rab23 |
T |
C |
1: 33,778,466 (GRCm39) |
V236A |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,398,881 (GRCm39) |
|
probably null |
Het |
Slc5a7 |
A |
G |
17: 54,583,587 (GRCm39) |
S568P |
probably benign |
Het |
Smpd3 |
A |
G |
8: 106,986,371 (GRCm39) |
L477P |
probably damaging |
Het |
Spg21 |
A |
G |
9: 65,387,671 (GRCm39) |
|
probably null |
Het |
Spta1 |
A |
T |
1: 174,020,543 (GRCm39) |
I551F |
probably damaging |
Het |
Supt5 |
A |
T |
7: 28,025,397 (GRCm39) |
I135N |
possibly damaging |
Het |
Tacstd2 |
A |
G |
6: 67,512,170 (GRCm39) |
F174S |
probably damaging |
Het |
Tas1r2 |
A |
T |
4: 139,387,098 (GRCm39) |
T186S |
probably damaging |
Het |
Tie1 |
A |
G |
4: 118,336,248 (GRCm39) |
Y673H |
probably damaging |
Het |
Tom1l1 |
A |
T |
11: 90,561,952 (GRCm39) |
N190K |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
Tox4 |
C |
T |
14: 52,524,924 (GRCm39) |
T249I |
probably damaging |
Het |
Trmt1l |
C |
T |
1: 151,329,799 (GRCm39) |
Q581* |
probably null |
Het |
Vmn1r49 |
A |
G |
6: 90,049,534 (GRCm39) |
V156A |
probably benign |
Het |
Vmn2r13 |
A |
T |
5: 109,323,065 (GRCm39) |
F75I |
probably benign |
Het |
Washc2 |
T |
A |
6: 116,215,135 (GRCm39) |
S502T |
possibly damaging |
Het |
Wnk4 |
A |
T |
11: 101,164,937 (GRCm39) |
E755D |
probably benign |
Het |
Zfp207 |
T |
A |
11: 80,286,016 (GRCm39) |
|
probably benign |
Het |
Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
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 |
123,216,305 (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 |
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'- AAGTGCGTTATCCCTGTACTAGG -3'
(R):5'- GACCATGAGGAGGATCGCTATC -3'
Sequencing Primer
(F):5'- GTACTAGGCTGGCCATCTCCAAC -3'
(R):5'- GATCGCTATCCCAAGGACCATTG -3'
|
Posted On |
2015-09-25 |