Incidental Mutation 'R2019:Piezo1'
| ID |
223642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Piezo1
|
| Ensembl Gene |
ENSMUSG00000014444 |
| Gene Name |
piezo-type mechanosensitive ion channel component 1 |
| Synonyms |
Fam38a, Piezo1 |
| MMRRC Submission |
040028-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2019 (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 123209451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 2371
(F2371L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067252]
[ENSMUST00000116412]
[ENSMUST00000127664]
[ENSMUST00000128383]
[ENSMUST00000156333]
[ENSMUST00000151855]
[ENSMUST00000146634]
[ENSMUST00000134127]
[ENSMUST00000136253]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067252
AA Change: F2371L
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: F2371L
| 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: ENSMUST00000128472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134304
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156333
AA Change: F2372L
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: F2372L
| 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: ENSMUST00000155803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131934
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154099
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146634
|
| SMART Domains |
Protein: ENSMUSP00000119931
Gene: ENSMUSG00000049482
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
104 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000134127
|
| SMART Domains |
Protein: ENSMUSP00000119237
Gene: ENSMUSG00000049482
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
SCOP:d1sur__
|
25 |
128 |
4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136253
|
| Meta Mutation Damage Score |
0.0781 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
A |
10: 76,293,899 (GRCm39) |
F252L |
possibly damaging |
Het |
| Abcc9 |
G |
A |
6: 142,621,160 (GRCm39) |
L527F |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,498,159 (GRCm39) |
T918A |
probably damaging |
Het |
| Acp3 |
C |
T |
9: 104,201,901 (GRCm39) |
G81R |
probably damaging |
Het |
| Acss3 |
C |
T |
10: 106,772,068 (GRCm39) |
S669N |
probably benign |
Het |
| Akt1 |
T |
C |
12: 112,626,059 (GRCm39) |
N71S |
probably damaging |
Het |
| Amz1 |
G |
T |
5: 140,737,719 (GRCm39) |
M326I |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,639,140 (GRCm39) |
I1351V |
probably benign |
Het |
| Art2b |
T |
C |
7: 101,229,194 (GRCm39) |
D235G |
probably benign |
Het |
| Ccdc141 |
A |
C |
2: 76,841,909 (GRCm39) |
I1507M |
probably damaging |
Het |
| Dck |
A |
G |
5: 88,921,943 (GRCm39) |
Y135C |
probably damaging |
Het |
| Dmbt1 |
T |
G |
7: 130,712,718 (GRCm39) |
I1563S |
possibly damaging |
Het |
| Dnttip2 |
T |
C |
3: 122,074,393 (GRCm39) |
V610A |
possibly damaging |
Het |
| Efhb |
A |
G |
17: 53,708,505 (GRCm39) |
S722P |
probably damaging |
Het |
| Emx2 |
A |
G |
19: 59,447,771 (GRCm39) |
S42G |
probably benign |
Het |
| Ermard |
C |
T |
17: 15,273,527 (GRCm39) |
R371C |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,476,783 (GRCm39) |
I1943S |
probably damaging |
Het |
| Fignl1 |
T |
C |
11: 11,752,054 (GRCm39) |
K334E |
probably damaging |
Het |
| Fmn1 |
A |
C |
2: 113,194,825 (GRCm39) |
K175T |
unknown |
Het |
| Gm7247 |
A |
T |
14: 51,602,804 (GRCm39) |
M47L |
possibly damaging |
Het |
| Gpalpp1 |
A |
T |
14: 76,348,131 (GRCm39) |
|
probably null |
Het |
| Hc |
A |
C |
2: 34,903,540 (GRCm39) |
F1038C |
probably damaging |
Het |
| Ifngr1 |
A |
T |
10: 19,467,861 (GRCm39) |
M10L |
probably damaging |
Het |
| Irx5 |
T |
G |
8: 93,084,992 (GRCm39) |
Y61D |
probably damaging |
Het |
| Itgax |
A |
G |
7: 127,747,698 (GRCm39) |
H1038R |
probably benign |
Het |
| Jag1 |
C |
T |
2: 136,926,599 (GRCm39) |
E982K |
probably benign |
Het |
| Klhdc9 |
T |
C |
1: 171,186,509 (GRCm39) |
D309G |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,519,961 (GRCm39) |
M74K |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,059,759 (GRCm39) |
L685Q |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Mgat5b |
A |
G |
11: 116,838,174 (GRCm39) |
Y271C |
probably benign |
Het |
| Mtmr6 |
T |
C |
14: 60,536,441 (GRCm39) |
M557T |
probably benign |
Het |
| Myo16 |
T |
C |
8: 10,426,260 (GRCm39) |
L339P |
probably benign |
Het |
| Neb |
G |
T |
2: 52,122,288 (GRCm39) |
Y580* |
probably null |
Het |
| Npat |
A |
G |
9: 53,473,791 (GRCm39) |
K528E |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,418 (GRCm39) |
Y120F |
possibly damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,737 (GRCm39) |
V111A |
probably damaging |
Het |
| Or5m3 |
A |
T |
2: 85,838,567 (GRCm39) |
Y149F |
probably damaging |
Het |
| Parp8 |
G |
A |
13: 117,004,968 (GRCm39) |
|
probably benign |
Het |
| Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
| Phospho1 |
G |
A |
11: 95,721,932 (GRCm39) |
V201M |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,163,641 (GRCm39) |
S1209P |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,787,658 (GRCm39) |
C20* |
probably null |
Het |
| Prdm5 |
C |
A |
6: 65,808,340 (GRCm39) |
N95K |
probably damaging |
Het |
| Prkx |
T |
C |
X: 76,809,010 (GRCm39) |
D270G |
probably damaging |
Het |
| Ptgis |
A |
G |
2: 167,050,199 (GRCm39) |
V310A |
probably damaging |
Het |
| Ptgis |
G |
A |
2: 167,056,730 (GRCm39) |
Q286* |
probably null |
Het |
| Rpf1 |
T |
A |
3: 146,226,976 (GRCm39) |
N59I |
probably damaging |
Het |
| Rpl3l |
A |
C |
17: 24,954,490 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,866,074 (GRCm39) |
G292D |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,611,410 (GRCm39) |
N2257K |
probably benign |
Het |
| Sla |
T |
C |
15: 66,654,404 (GRCm39) |
Y278C |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,064,725 (GRCm39) |
D193V |
probably damaging |
Het |
| Spire2 |
T |
C |
8: 124,059,657 (GRCm39) |
C52R |
probably damaging |
Het |
| Tada2b |
T |
C |
5: 36,641,250 (GRCm39) |
Y51C |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,154,853 (GRCm39) |
V1424I |
probably damaging |
Het |
| Tbpl1 |
T |
A |
10: 22,583,576 (GRCm39) |
E131D |
probably damaging |
Het |
| Tgfbrap1 |
A |
G |
1: 43,093,677 (GRCm39) |
|
probably null |
Het |
| Tmem116 |
A |
G |
5: 121,627,317 (GRCm39) |
I151M |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,681,500 (GRCm39) |
D223G |
probably damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,335 (GRCm39) |
C117* |
probably null |
Het |
| Ttn |
C |
G |
2: 76,585,676 (GRCm39) |
D21987H |
probably damaging |
Het |
| Txnrd1 |
G |
A |
10: 82,713,207 (GRCm39) |
V90I |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,137,830 (GRCm39) |
|
probably null |
Het |
| Upp1 |
A |
T |
11: 9,083,240 (GRCm39) |
M111L |
possibly damaging |
Het |
| Vmn2r79 |
G |
T |
7: 86,651,634 (GRCm39) |
L344F |
probably benign |
Het |
| Vps39 |
T |
C |
2: 120,173,708 (GRCm39) |
Y147C |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 112,193,425 (GRCm39) |
Y666H |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,497,613 (GRCm39) |
|
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 |
|
R2219:Piezo1
|
UTSW |
8 |
123,218,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2331:Piezo1
|
UTSW |
8 |
123,214,005 (GRCm39) |
splice site |
probably null |
|
|
R3016:Piezo1
|
UTSW |
8 |
123,232,766 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3699:Piezo1
|
UTSW |
8 |
123,221,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3700:Piezo1
|
UTSW |
8 |
123,221,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3746:Piezo1
|
UTSW |
8 |
123,219,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Piezo1
|
UTSW |
8 |
123,208,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Piezo1
|
UTSW |
8 |
123,227,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4296:Piezo1
|
UTSW |
8 |
123,217,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4396:Piezo1
|
UTSW |
8 |
123,225,413 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4467:Piezo1
|
UTSW |
8 |
123,213,135 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4614:Piezo1
|
UTSW |
8 |
123,213,150 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4642:Piezo1
|
UTSW |
8 |
123,222,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Piezo1
|
UTSW |
8 |
123,215,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Piezo1
|
UTSW |
8 |
123,224,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Piezo1
|
UTSW |
8 |
123,213,678 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4749:Piezo1
|
UTSW |
8 |
123,224,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Piezo1
|
UTSW |
8 |
123,213,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Piezo1
|
UTSW |
8 |
123,214,284 (GRCm39) |
missense |
probably benign |
|
|
R4962:Piezo1
|
UTSW |
8 |
123,213,220 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5026:Piezo1
|
UTSW |
8 |
123,213,557 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5418:Piezo1
|
UTSW |
8 |
123,213,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5625:Piezo1
|
UTSW |
8 |
123,209,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5759:Piezo1
|
UTSW |
8 |
123,234,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5864:Piezo1
|
UTSW |
8 |
123,213,112 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5898:Piezo1
|
UTSW |
8 |
123,214,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5948:Piezo1
|
UTSW |
8 |
123,210,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6052:Piezo1
|
UTSW |
8 |
123,233,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Piezo1
|
UTSW |
8 |
123,228,396 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6216:Piezo1
|
UTSW |
8 |
123,215,869 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6271:Piezo1
|
UTSW |
8 |
123,221,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6549:Piezo1
|
UTSW |
8 |
123,227,002 (GRCm39) |
missense |
|
|
|
R6723:Piezo1
|
UTSW |
8 |
123,234,366 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6871:Piezo1
|
UTSW |
8 |
123,211,766 (GRCm39) |
splice site |
probably null |
|
|
R6919:Piezo1
|
UTSW |
8 |
123,217,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Piezo1
|
UTSW |
8 |
123,217,633 (GRCm39) |
missense |
|
|
|
R7105:Piezo1
|
UTSW |
8 |
123,208,857 (GRCm39) |
missense |
unknown |
|
|
R7267:Piezo1
|
UTSW |
8 |
123,224,268 (GRCm39) |
missense |
|
|
|
R7337:Piezo1
|
UTSW |
8 |
123,212,463 (GRCm39) |
missense |
|
|
|
R7381:Piezo1
|
UTSW |
8 |
123,228,397 (GRCm39) |
missense |
|
|
|
R7480:Piezo1
|
UTSW |
8 |
123,225,234 (GRCm39) |
nonsense |
probably null |
|
|
R7515:Piezo1
|
UTSW |
8 |
123,212,035 (GRCm39) |
missense |
|
|
|
R7571:Piezo1
|
UTSW |
8 |
123,225,157 (GRCm39) |
missense |
|
|
|
R7601:Piezo1
|
UTSW |
8 |
123,210,220 (GRCm39) |
splice site |
probably null |
|
|
R7827:Piezo1
|
UTSW |
8 |
123,209,659 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7923:Piezo1
|
UTSW |
8 |
123,223,183 (GRCm39) |
missense |
|
|
|
R7975:Piezo1
|
UTSW |
8 |
123,222,504 (GRCm39) |
missense |
|
|
|
R8071:Piezo1
|
UTSW |
8 |
123,213,750 (GRCm39) |
missense |
probably null |
|
|
R8231:Piezo1
|
UTSW |
8 |
123,232,836 (GRCm39) |
missense |
|
|
|
R8270:Piezo1
|
UTSW |
8 |
123,228,298 (GRCm39) |
missense |
|
|
|
R8784:Piezo1
|
UTSW |
8 |
123,223,328 (GRCm39) |
splice site |
probably benign |
|
|
R8788:Piezo1
|
UTSW |
8 |
123,228,533 (GRCm39) |
missense |
|
|
|
R8829:Piezo1
|
UTSW |
8 |
123,217,753 (GRCm39) |
missense |
|
|
|
R8890:Piezo1
|
UTSW |
8 |
123,216,330 (GRCm39) |
missense |
|
|
|
R8950:Piezo1
|
UTSW |
8 |
123,208,729 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8994:Piezo1
|
UTSW |
8 |
123,209,829 (GRCm39) |
missense |
unknown |
|
|
R9036:Piezo1
|
UTSW |
8 |
123,215,090 (GRCm39) |
missense |
|
|
|
R9145:Piezo1
|
UTSW |
8 |
123,208,753 (GRCm39) |
missense |
unknown |
|
|
R9146:Piezo1
|
UTSW |
8 |
123,227,002 (GRCm39) |
missense |
|
|
|
R9251:Piezo1
|
UTSW |
8 |
123,219,354 (GRCm39) |
missense |
|
|
|
R9307:Piezo1
|
UTSW |
8 |
123,213,832 (GRCm39) |
missense |
|
|
|
R9375:Piezo1
|
UTSW |
8 |
123,228,604 (GRCm39) |
missense |
|
|
|
R9424:Piezo1
|
UTSW |
8 |
123,218,079 (GRCm39) |
missense |
|
|
|
R9578:Piezo1
|
UTSW |
8 |
123,224,214 (GRCm39) |
missense |
|
|
|
R9722:Piezo1
|
UTSW |
8 |
123,225,497 (GRCm39) |
missense |
|
|
|
R9775:Piezo1
|
UTSW |
8 |
123,208,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGAGTCGGGCTACACTGG -3'
(R):5'- TGAGAAGCACACCTTGGAGC -3'
Sequencing Primer
(F):5'- GCTACACTGGCCCCCGG -3'
(R):5'- AGCTGGCCCAACTGCTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation