Incidental Mutation 'R5418:Piezo1'
| ID |
427854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Piezo1
|
| Ensembl Gene |
ENSMUSG00000014444 |
| Gene Name |
piezo-type mechanosensitive ion channel component 1 |
| Synonyms |
Fam38a, Piezo1 |
| MMRRC Submission |
042986-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5418 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123208437-123278068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123213519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1793
(L1793P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067252]
[ENSMUST00000116412]
[ENSMUST00000127664]
[ENSMUST00000128383]
[ENSMUST00000156333]
[ENSMUST00000151855]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067252
AA Change: L1792P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: L1792P
| 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: ENSMUST00000134304
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148497
AA Change: S1056P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444
AA Change: S1056P
| 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: L1793P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: L1793P
| 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 |
noncoding transcript
Transcript: ENSMUST00000155803
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151855
|
| SMART Domains |
Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
SCOP:d1sur__
|
47 |
153 |
9e-4 |
SMART |
|
Pfam:DUF2392
|
277 |
377 |
1.7e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.9536 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (81/82) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,244,738 (GRCm39) |
S205P |
probably damaging |
Het |
| Abcc1 |
T |
C |
16: 14,278,996 (GRCm39) |
V1102A |
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,896,853 (GRCm39) |
M202K |
probably damaging |
Het |
| Acoxl |
T |
A |
2: 127,719,722 (GRCm39) |
M161K |
probably benign |
Het |
| Adamts4 |
T |
A |
1: 171,080,143 (GRCm39) |
V35E |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,087,894 (GRCm39) |
S614G |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,567,427 (GRCm39) |
I5249L |
probably benign |
Het |
| Agps |
A |
G |
2: 75,689,248 (GRCm39) |
T252A |
probably damaging |
Het |
| Alms1-ps1 |
G |
A |
6: 85,732,584 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd24 |
T |
A |
10: 81,480,776 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,416,733 (GRCm39) |
Q218R |
possibly damaging |
Het |
| Bin2 |
T |
C |
15: 100,547,027 (GRCm39) |
Y232C |
probably damaging |
Het |
| Bptf |
A |
G |
11: 107,002,120 (GRCm39) |
Y331H |
probably damaging |
Het |
| Ccr10 |
C |
T |
11: 101,064,904 (GRCm39) |
V209M |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,791,810 (GRCm39) |
D371V |
possibly damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,931 (GRCm39) |
|
probably benign |
Het |
| Crlf2 |
A |
G |
5: 109,704,899 (GRCm39) |
V104A |
probably benign |
Het |
| Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,281,935 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,985,810 (GRCm39) |
E1422D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Efcab11 |
A |
G |
12: 99,821,877 (GRCm39) |
L80S |
possibly damaging |
Het |
| Emc8 |
G |
A |
8: 121,385,342 (GRCm39) |
T130M |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 27,688,467 (GRCm39) |
M196V |
probably benign |
Het |
| Etnk2 |
T |
C |
1: 133,300,995 (GRCm39) |
I254T |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,622,061 (GRCm39) |
T13M |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,203,966 (GRCm39) |
K423E |
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,784,738 (GRCm39) |
G266D |
probably damaging |
Het |
| Fndc4 |
A |
T |
5: 31,451,978 (GRCm39) |
S146R |
probably benign |
Het |
| Frmd3 |
G |
A |
4: 74,079,935 (GRCm39) |
|
probably null |
Het |
| Glrx2 |
C |
A |
1: 143,615,446 (GRCm39) |
S16R |
possibly damaging |
Het |
| Gm26526 |
T |
G |
7: 39,238,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
C |
T |
2: 34,898,195 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,787,313 (GRCm39) |
C1695R |
probably damaging |
Het |
| Hic1 |
A |
G |
11: 75,057,425 (GRCm39) |
|
probably null |
Het |
| Igkv4-92 |
A |
T |
6: 68,732,564 (GRCm39) |
V5E |
possibly damaging |
Het |
| Irs1 |
G |
A |
1: 82,266,491 (GRCm39) |
T575I |
probably damaging |
Het |
| Kcp |
A |
T |
6: 29,504,283 (GRCm39) |
Y143* |
probably null |
Het |
| Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
| Klra6 |
T |
A |
6: 129,990,393 (GRCm39) |
L239F |
probably damaging |
Het |
| Lhx6 |
A |
G |
2: 35,977,378 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
G |
A |
3: 30,696,923 (GRCm39) |
P116S |
possibly damaging |
Het |
| Map3k9 |
T |
A |
12: 81,790,591 (GRCm39) |
K321* |
probably null |
Het |
| Mapk14 |
T |
C |
17: 28,960,817 (GRCm39) |
V196A |
possibly damaging |
Het |
| Matcap2 |
G |
T |
9: 22,343,066 (GRCm39) |
R187L |
probably damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,270,045 (GRCm39) |
L711P |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,732,600 (GRCm39) |
S627P |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,553,410 (GRCm39) |
Y2631N |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,524,035 (GRCm39) |
V153A |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,552,343 (GRCm39) |
I37M |
probably benign |
Het |
| Pax6 |
A |
T |
2: 105,521,910 (GRCm39) |
D175V |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,140,506 (GRCm39) |
V404A |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,050,694 (GRCm39) |
Y421H |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,612,961 (GRCm39) |
V3173G |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,599,840 (GRCm39) |
I49N |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,699 (GRCm39) |
V400E |
probably damaging |
Het |
| Rbm11 |
A |
C |
16: 75,393,423 (GRCm39) |
T40P |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,227,634 (GRCm39) |
Y227H |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Sema3f |
A |
G |
9: 107,569,820 (GRCm39) |
Y70H |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,029,151 (GRCm39) |
E505K |
possibly damaging |
Het |
| Slc25a3 |
T |
C |
10: 90,955,398 (GRCm39) |
I147M |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,760,280 (GRCm38) |
S572T |
probably benign |
Het |
| Smarcal1 |
C |
T |
1: 72,638,068 (GRCm39) |
P501S |
probably benign |
Het |
| Sox7 |
C |
T |
14: 64,185,396 (GRCm39) |
T144M |
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,797,214 (GRCm39) |
F304S |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,263,517 (GRCm39) |
F46L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
| Tpcn2 |
C |
T |
7: 144,832,518 (GRCm39) |
E113K |
probably damaging |
Het |
| Vmn1r232 |
T |
A |
17: 21,134,378 (GRCm39) |
Y74F |
possibly damaging |
Het |
| Vmn2r102 |
C |
T |
17: 19,914,415 (GRCm39) |
T660I |
probably damaging |
Het |
| Zdhhc3 |
A |
G |
9: 122,909,456 (GRCm39) |
M234T |
probably damaging |
Het |
| Zfp960 |
T |
A |
17: 17,307,805 (GRCm39) |
L173H |
probably damaging |
Het |
|
| Other mutations in Piezo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00896:Piezo1
|
APN |
8 |
123,224,609 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01094:Piezo1
|
APN |
8 |
123,208,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01321:Piezo1
|
APN |
8 |
123,214,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01695:Piezo1
|
APN |
8 |
123,222,248 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01762:Piezo1
|
APN |
8 |
123,214,668 (GRCm39) |
nonsense |
probably null |
|
|
IGL01922:Piezo1
|
APN |
8 |
123,219,431 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01953:Piezo1
|
APN |
8 |
123,217,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01997:Piezo1
|
APN |
8 |
123,215,070 (GRCm39) |
splice site |
probably benign |
|
|
IGL02381:Piezo1
|
APN |
8 |
123,225,283 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02398:Piezo1
|
APN |
8 |
123,213,302 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02562:Piezo1
|
APN |
8 |
123,223,502 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02572:Piezo1
|
APN |
8 |
123,212,044 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02691:Piezo1
|
APN |
8 |
123,228,688 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02726:Piezo1
|
APN |
8 |
123,213,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02814:Piezo1
|
APN |
8 |
123,224,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02931:Piezo1
|
APN |
8 |
123,210,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03145:Piezo1
|
APN |
8 |
123,209,660 (GRCm39) |
missense |
probably benign |
0.14 |
|
FR4449:Piezo1
|
UTSW |
8 |
123,222,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4548:Piezo1
|
UTSW |
8 |
123,222,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4737:Piezo1
|
UTSW |
8 |
123,222,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Piezo1
|
UTSW |
8 |
123,222,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Piezo1
|
UTSW |
8 |
123,222,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Piezo1
|
UTSW |
8 |
123,228,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0096:Piezo1
|
UTSW |
8 |
123,212,109 (GRCm39) |
unclassified |
probably benign |
|
|
R0970:Piezo1
|
UTSW |
8 |
123,213,549 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1364:Piezo1
|
UTSW |
8 |
123,225,310 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1460:Piezo1
|
UTSW |
8 |
123,228,890 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1485:Piezo1
|
UTSW |
8 |
123,208,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Piezo1
|
UTSW |
8 |
123,218,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Piezo1
|
UTSW |
8 |
123,223,561 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1700:Piezo1
|
UTSW |
8 |
123,214,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Piezo1
|
UTSW |
8 |
123,222,489 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1861:Piezo1
|
UTSW |
8 |
123,222,489 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1899:Piezo1
|
UTSW |
8 |
123,216,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Piezo1
|
UTSW |
8 |
123,209,384 (GRCm39) |
unclassified |
probably benign |
|
|
R1900:Piezo1
|
UTSW |
8 |
123,209,384 (GRCm39) |
unclassified |
probably benign |
|
|
R2018:Piezo1
|
UTSW |
8 |
123,209,451 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2019:Piezo1
|
UTSW |
8 |
123,209,451 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2219:Piezo1
|
UTSW |
8 |
123,218,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2331:Piezo1
|
UTSW |
8 |
123,214,005 (GRCm39) |
splice site |
probably null |
|
|
R3016:Piezo1
|
UTSW |
8 |
123,232,766 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3699:Piezo1
|
UTSW |
8 |
123,221,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3700:Piezo1
|
UTSW |
8 |
123,221,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3746:Piezo1
|
UTSW |
8 |
123,219,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Piezo1
|
UTSW |
8 |
123,208,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Piezo1
|
UTSW |
8 |
123,227,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4296:Piezo1
|
UTSW |
8 |
123,217,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4396:Piezo1
|
UTSW |
8 |
123,225,413 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4467:Piezo1
|
UTSW |
8 |
123,213,135 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4614:Piezo1
|
UTSW |
8 |
123,213,150 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4642:Piezo1
|
UTSW |
8 |
123,222,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Piezo1
|
UTSW |
8 |
123,215,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Piezo1
|
UTSW |
8 |
123,224,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Piezo1
|
UTSW |
8 |
123,224,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Piezo1
|
UTSW |
8 |
123,213,678 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4865:Piezo1
|
UTSW |
8 |
123,213,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTCCCAGAGGCCATAACACTATG -3'
(R):5'- TCTTCACTGAGGTGGGTAGC -3'
Sequencing Primer
(F):5'- CATAACACTATGGAGGATACGGGTTG -3'
(R):5'- TGAGTGCCCTGTCCTGCAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation