Incidental Mutation 'R4296:Piezo1'
ID |
323331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Piezo1
|
Ensembl Gene |
ENSMUSG00000014444 |
Gene Name |
piezo-type mechanosensitive ion channel component 1 |
Synonyms |
Fam38a, Piezo1 |
MMRRC Submission |
041656-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4296 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
123208437-123278068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 123217866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 819
(Y819F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116194
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067252]
[ENSMUST00000067252]
[ENSMUST00000067252]
[ENSMUST00000127664]
[ENSMUST00000128383]
[ENSMUST00000128383]
[ENSMUST00000156333]
[ENSMUST00000156333]
[ENSMUST00000156333]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067252
AA Change: Y1257F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: Y1257F
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 damaging
Transcript: ENSMUST00000067252
AA Change: Y1257F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: Y1257F
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 damaging
Transcript: ENSMUST00000067252
AA Change: Y1257F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089777 Gene: ENSMUSG00000014444 AA Change: Y1257F
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: 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 damaging
Transcript: ENSMUST00000128383
AA Change: Y819F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116194 Gene: ENSMUSG00000014444 AA Change: Y819F
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 |
probably damaging
Transcript: ENSMUST00000128383
AA Change: Y819F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116194 Gene: ENSMUSG00000014444 AA Change: Y819F
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: Y607F
|
SMART Domains |
Protein: ENSMUSP00000121725 Gene: ENSMUSG00000014444 AA Change: Y607F
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: ENSMUST00000148497
AA Change: Y607F
|
SMART Domains |
Protein: ENSMUSP00000121725 Gene: ENSMUSG00000014444 AA Change: Y607F
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: Y1258F
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: Y1258F
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 |
unknown
Transcript: ENSMUST00000156333
AA Change: Y1258F
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: Y1258F
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 |
unknown
Transcript: ENSMUST00000156333
AA Change: Y1258F
|
SMART Domains |
Protein: ENSMUSP00000114584 Gene: ENSMUSG00000014444 AA Change: Y1258F
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 |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
G |
T |
19: 43,811,513 (GRCm39) |
G993C |
probably damaging |
Het |
Abcc2 |
G |
C |
19: 43,811,514 (GRCm39) |
G993A |
probably damaging |
Het |
Abi3bp |
A |
T |
16: 56,488,673 (GRCm39) |
H810L |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,358,641 (GRCm39) |
D5G |
probably benign |
Het |
Aldh7a1 |
A |
T |
18: 56,678,035 (GRCm39) |
|
probably null |
Het |
Aox1 |
T |
A |
1: 58,096,559 (GRCm39) |
|
probably null |
Het |
Apbb1 |
G |
T |
7: 105,223,033 (GRCm39) |
Q193K |
probably benign |
Het |
Arl9 |
C |
A |
5: 77,154,396 (GRCm39) |
N41K |
probably damaging |
Het |
Armc1 |
A |
G |
3: 19,203,680 (GRCm39) |
M82T |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,381,960 (GRCm39) |
E526G |
probably damaging |
Het |
Cacna1a |
C |
T |
8: 85,285,922 (GRCm39) |
R809C |
probably damaging |
Het |
Cd200r1 |
T |
C |
16: 44,610,033 (GRCm39) |
I84T |
probably damaging |
Het |
Cgrrf1 |
T |
C |
14: 47,069,812 (GRCm39) |
V27A |
probably damaging |
Het |
Clec4f |
G |
A |
6: 83,629,557 (GRCm39) |
Q334* |
probably null |
Het |
Cpeb3 |
C |
T |
19: 37,151,389 (GRCm39) |
G329D |
possibly damaging |
Het |
Ctnnbl1 |
C |
T |
2: 157,661,490 (GRCm39) |
|
probably null |
Het |
Dip2b |
A |
T |
15: 100,079,217 (GRCm39) |
M810L |
probably benign |
Het |
Eml3 |
T |
C |
19: 8,908,773 (GRCm39) |
S158P |
probably damaging |
Het |
Eps8l2 |
G |
T |
7: 140,938,175 (GRCm39) |
E470* |
probably null |
Het |
Flt3l |
A |
G |
7: 44,783,428 (GRCm39) |
F146S |
probably damaging |
Het |
Glmn |
A |
T |
5: 107,706,368 (GRCm39) |
V419E |
possibly damaging |
Het |
Gm11360 |
T |
A |
13: 28,140,295 (GRCm39) |
I53N |
probably damaging |
Het |
Gpbp1l1 |
T |
A |
4: 116,444,656 (GRCm39) |
V275D |
possibly damaging |
Het |
Harbi1 |
T |
A |
2: 91,543,100 (GRCm39) |
M187K |
possibly damaging |
Het |
Has3 |
T |
C |
8: 107,605,054 (GRCm39) |
V420A |
possibly damaging |
Het |
Huwe1 |
C |
A |
X: 150,671,444 (GRCm39) |
T1012K |
probably benign |
Het |
Iqcg |
G |
A |
16: 32,837,345 (GRCm39) |
|
probably benign |
Het |
Itga4 |
G |
A |
2: 79,103,143 (GRCm39) |
G111R |
probably damaging |
Het |
Keap1 |
A |
G |
9: 21,145,282 (GRCm39) |
S243P |
probably damaging |
Het |
Kmt2a |
C |
T |
9: 44,732,472 (GRCm39) |
|
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
Ltbp3 |
A |
T |
19: 5,806,610 (GRCm39) |
|
probably null |
Het |
Mbtps1 |
C |
T |
8: 120,249,238 (GRCm39) |
C684Y |
possibly damaging |
Het |
Mcm3ap |
A |
T |
10: 76,343,171 (GRCm39) |
I1688F |
probably damaging |
Het |
Midn |
C |
T |
10: 79,987,553 (GRCm39) |
T21I |
probably damaging |
Het |
Naf1 |
C |
T |
8: 67,342,114 (GRCm39) |
P580S |
possibly damaging |
Het |
Nherf4 |
G |
A |
9: 44,160,158 (GRCm39) |
R349C |
probably benign |
Het |
Nlrp3 |
A |
T |
11: 59,440,487 (GRCm39) |
E688V |
possibly damaging |
Het |
Nusap1 |
A |
G |
2: 119,470,129 (GRCm39) |
H259R |
probably damaging |
Het |
Nxpe4 |
A |
G |
9: 48,310,284 (GRCm39) |
T516A |
probably damaging |
Het |
Oas1g |
T |
A |
5: 121,017,230 (GRCm39) |
T275S |
probably damaging |
Het |
Ogdh |
T |
G |
11: 6,299,374 (GRCm39) |
F743V |
probably damaging |
Het |
Or5aq6 |
T |
C |
2: 86,922,974 (GRCm39) |
T256A |
probably benign |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Or6c215 |
C |
A |
10: 129,638,169 (GRCm39) |
C75F |
probably damaging |
Het |
Or6c75 |
C |
A |
10: 129,337,339 (GRCm39) |
C195* |
probably null |
Het |
Or9i1b |
A |
G |
19: 13,896,717 (GRCm39) |
E111G |
probably damaging |
Het |
Peg10 |
GGAT |
GGATCCCCATCATGAT |
6: 4,756,472 (GRCm39) |
|
probably benign |
Het |
Plekhg2 |
C |
A |
7: 28,070,591 (GRCm39) |
G20C |
probably damaging |
Het |
Polq |
A |
G |
16: 36,881,663 (GRCm39) |
T997A |
possibly damaging |
Het |
Polr3a |
T |
A |
14: 24,503,264 (GRCm39) |
Q1190L |
possibly damaging |
Het |
Ppp1r15a |
T |
A |
7: 45,173,173 (GRCm39) |
K800* |
probably null |
Het |
Prkdc |
T |
A |
16: 15,555,769 (GRCm39) |
M2181K |
probably damaging |
Het |
Pskh1 |
C |
A |
8: 106,639,536 (GRCm39) |
A72E |
probably benign |
Het |
Purg |
T |
C |
8: 33,877,321 (GRCm39) |
Y320H |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,988,034 (GRCm39) |
|
probably null |
Het |
Rnps1 |
T |
A |
17: 24,644,089 (GRCm39) |
|
probably benign |
Het |
Scgb2b21 |
A |
T |
7: 33,219,233 (GRCm39) |
V57E |
probably benign |
Het |
Sdhaf2 |
A |
T |
19: 10,502,439 (GRCm39) |
I7N |
probably benign |
Het |
Six4 |
A |
G |
12: 73,150,899 (GRCm39) |
Y549H |
probably damaging |
Het |
Slc4a10 |
G |
T |
2: 62,064,772 (GRCm39) |
V209F |
possibly damaging |
Het |
Slc4a11 |
C |
A |
2: 130,526,927 (GRCm39) |
V734F |
probably benign |
Het |
Stk4 |
T |
A |
2: 163,959,904 (GRCm39) |
M27K |
possibly damaging |
Het |
Tecrl |
A |
T |
5: 83,461,174 (GRCm39) |
C79* |
probably null |
Het |
Tgm3 |
G |
T |
2: 129,880,333 (GRCm39) |
V380L |
possibly damaging |
Het |
Tiam2 |
A |
T |
17: 3,501,120 (GRCm39) |
M920L |
probably benign |
Het |
Tjp1 |
T |
C |
7: 64,968,237 (GRCm39) |
N729S |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,511,581 (GRCm39) |
L223P |
probably damaging |
Het |
Tmem268 |
T |
C |
4: 63,484,005 (GRCm39) |
|
probably null |
Het |
Tmpo |
A |
T |
10: 90,998,818 (GRCm39) |
I323K |
possibly damaging |
Het |
Tmx4 |
T |
C |
2: 134,440,549 (GRCm39) |
S302G |
probably benign |
Het |
Trip11 |
C |
A |
12: 101,852,127 (GRCm39) |
E361* |
probably null |
Het |
Tspyl3 |
T |
A |
2: 153,067,076 (GRCm39) |
N54I |
possibly damaging |
Het |
Upp2 |
A |
T |
2: 58,668,021 (GRCm39) |
Y220F |
probably damaging |
Het |
Usp22 |
G |
T |
11: 61,052,290 (GRCm39) |
|
probably null |
Het |
Vezt |
ACTCCTCCT |
ACTCCT |
10: 93,809,793 (GRCm39) |
|
probably benign |
Het |
Vmn1r235 |
G |
T |
17: 21,482,562 (GRCm39) |
G296W |
probably damaging |
Het |
Vmn1r89 |
T |
C |
7: 12,954,113 (GRCm39) |
V94A |
possibly damaging |
Het |
Zfp607a |
A |
T |
7: 27,565,073 (GRCm39) |
E80V |
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 |
|
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'- CTGAGAAAGATGCGCCGTTG -3'
(R):5'- AGAATATGCTGTCGGTGAGC -3'
Sequencing Primer
(F):5'- AGAAGCAGATACTGTCCCAGATGATC -3'
(R):5'- TGTCGGTGAGCAGACCACTC -3'
|
Posted On |
2015-06-20 |