Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4737:Piezo1'

511679

Institutional Source

Beutler Lab

Gene Symbol

Piezo1

Ensembl Gene

ENSMUSG00000014444

Gene Name

piezo-type mechanosensitive ion channel component 1

Synonyms

Fam38a, Piezo1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4737 ()

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

122481698-122551329 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122495569 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Arginine to Tryptophan at position 503 (R503W)

Ref Sequence

ENSEMBL: ENSMUSP00000116194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067252] [ENSMUST00000127664] [ENSMUST00000128383] [ENSMUST00000156333]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067252
AA Change: R941W

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: R941W

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: R503W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444
AA Change: R503W

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: R288W

SMART Domains

Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444
AA Change: R288W

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: R942W

SMART Domains

Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: R942W

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

Meta Mutation Damage Score

0.2651

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 97.0%

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: 211 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TCT	TCTCCT	12: 110,668,448		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
4930402H24Rik	CC	CCTGC	2: 130,770,752		probably benign	Het
4932415D10Rik	TTCA	T	10: 82,285,469		probably benign	Homo
4932438A13Rik	TTATTAT	TTATTATTATTATTACTATTAT	3: 37,050,754		probably benign	Het
A630001G21Rik	CTGTT	CT	1: 85,723,135		probably benign	Homo
Abcb11	C	A	2: 69,243,518	R1221L	probably damaging	Homo
Abcb4	GAAA	G	5: 8,896,597		probably benign	Homo
Ahdc1	CT	CTCGT	4: 133,062,759		probably benign	Homo
Alpk3	TCT	TCTACT	7: 81,077,762		probably benign	Het
Amfr	C	G	8: 94,005,159	G30R	probably damaging	Homo
Ankrd35	GC	GCTAC	3: 96,683,849		probably benign	Homo
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	CAATAAAGC	CAATAAAGCTAATAAAGC	18: 34,281,999		probably benign	Homo
Apol6	GTTT	GTTTCTTT	15: 77,051,442		probably null	Homo
Arpc1b	GGTGGC	GGTGGCGTGGC	5: 145,126,787		probably null	Het
AY358078	C	T	14: 51,805,698	S281L	unknown	Homo
BC051142	CAG	CAGAAG	17: 34,460,051		probably benign	Het
BC051142	GCA	GCATCA	17: 34,460,068		probably benign	Het
Blm	ACCTGC	ACCTGCCTGC	7: 80,463,771		probably null	Het
Blm	T	TACCA	7: 80,463,774		probably null	Het
Blzf1	TTGT	TT	1: 164,303,917		probably null	Homo
Btnl10	A	AAGG	11: 58,923,931		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,720		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,726		probably benign	Homo
Catsper2	TTC	TTCTTTTACTTTGTC	2: 121,397,540		probably benign	Homo
Ccdc170	ACC	ACCTCC	10: 4,561,023		probably benign	Het
Ccdc170	AC	ACCCC	10: 4,561,029		probably benign	Het
Ccdc73	TAAG	T	2: 104,991,840		probably benign	Homo
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdan1	A	C	2: 120,724,971	V763G	probably damaging	Het
Cdk6	A	G	5: 3,344,211		probably benign	Het
Cdx1	TGCTGC	TGCTGCCGCTGC	18: 61,019,874		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,019,878		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,638,930		probably benign	Homo
Chd4	GC	GCTCCCCC	6: 125,122,131		probably benign	Homo
Cluh	CCCCGAGCC	CCCCGAGCCCGAGCC	11: 74,669,514		probably benign	Het
Cluh	AGCCTG	AGCCTGCGCCTG	11: 74,669,519		probably benign	Het
Cluh	GAGCCT	GAGCCTAAGCCT	11: 74,669,524		probably benign	Het
Cluh	CC	CCTGAGGC	11: 74,669,533		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,569		probably benign	Het
Cntnap1	GCCCCA	GCCCCAACCCCA	11: 101,189,576		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,189,582		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,189,590		probably benign	Het
Cul9	CTCTTC	CTCTTCTTC	17: 46,500,846		probably benign	Het
Cul9	CTC	CTCTTC	17: 46,500,858		probably benign	Het
Cyth2	C	A	7: 45,813,042	S102I	possibly damaging	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,686		probably benign	Het
Dbr1	GGAGG	GGAGGACGAGG	9: 99,583,699		probably benign	Het
Dhx8	GACCGA	GACCGATACCGA	11: 101,738,179		probably benign	Homo
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,738,182		probably benign	Homo
Dhx8	GAGACC	GAGACCCAGACC	11: 101,738,189		probably benign	Homo
Dnah8	ACTGCCCCT	ACT	17: 30,635,465		probably benign	Het
Dnah8	CCTCCCG	C	17: 30,635,477		probably benign	Homo
Dnajb5	AGGTG	A	4: 42,957,126		probably null	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
E4f1	CCG	CCGACG	17: 24,455,192		probably benign	Homo
Eif3a	TTA	TTATTATA	19: 60,775,289		probably benign	Het
Fam81b	TTC	TTCGTC	13: 76,271,319		probably benign	Het
Fbxo22	G	A	9: 55,209,382	R56H	probably damaging	Het
Fcgr1	CTTCT	C	3: 96,284,504		probably null	Het
Fcgr1	T	C	3: 96,287,094	D159G	probably benign	Homo
Fmn1	CCTCCT	CCTCCTACTCCT	2: 113,525,778		probably benign	Het
Fmn1	CC	CCCCCTGC	2: 113,525,781		probably benign	Het
Fmn1	CC	CCTCCTTC	2: 113,525,784		probably benign	Het
G530012D18Rik	GA	GACAGAGATA	1: 85,577,178		probably null	Het
Gli3	G	A	13: 15,644,357	R248H	probably damaging	Het
Gm16503	G	A	4: 147,541,253	G68E	unknown	Het
Gm19345	GGATGGCAGGTG	GG	7: 19,857,602		probably null	Het
Gm4340	GCA	GCAACA	10: 104,196,077		probably benign	Het
Gm4340	AGC	AGCTGC	10: 104,196,097		probably benign	Het
Gm4340	AG	AGCGG	10: 104,196,100		probably benign	Het
Gm6309	C	T	5: 146,168,183	V307I	probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 78,842,171		probably benign	Het
Gpatch11	AGGAA	AGGAAGCGGAA	17: 78,842,180		probably benign	Het
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Hrh1	T	C	6: 114,481,123	I455T	possibly damaging	Het
Hspa1b	GCGCC	GC	17: 34,957,129		probably benign	Homo
Iba57	GAAA	GAAAAA	11: 59,161,505		probably null	Homo
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 68,226,181		probably benign	Het
Il17rd	CGG	CGGAGG	14: 27,082,680		probably benign	Het
Il2	AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTG	3: 37,125,764		probably benign	Het
Il2	TGG	TGGGGCTTGAAGCGG	3: 37,125,828		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Klra2	G	GAAATCCACAT	6: 131,221,852		probably null	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,366		probably benign	Het
Kmt2b	CCTCCT	CCTCCTTCTCCT	7: 30,586,367		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,370		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,378		probably benign	Het
Krt10	TCCGCC	TCCGCCGCC	11: 99,386,197		probably benign	Homo
Krt10	TCCTCC	TCCTCCGCCTCC	11: 99,389,273		probably benign	Het
Krt10	TCC	TCCTCCACC	11: 99,389,279		probably benign	Homo
Krtap28-10	TCCCACA	TCCCACACCCACA	1: 83,042,123		probably benign	Homo
Krtap4-2	A	ACAC	11: 99,635,013		probably benign	Het
Krtap9-3	AC	ACAGGTGTCGC	11: 99,598,004		probably benign	Het
Las1l	AGG	AGGGGG	X: 95,940,821		probably benign	Het
Las1l	AGG	AGGCGG	X: 95,940,827		probably benign	Het
Las1l	GAG	GAGCAG	X: 95,940,829		probably benign	Het
Lrit3	TGC	TGCAGC	3: 129,788,806		probably benign	Het
Lrit3	GCT	GCTTCT	3: 129,788,810		probably benign	Het
Lrit3	AC	ACATTC	3: 129,803,913		probably null	Homo
Luzp1	A	AGGTGGCCTCTTCAGT	4: 136,543,196		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,835		probably benign	Het
Mamld1	GCA	GCAACA	X: 71,118,839		probably benign	Het
Mapk8ip3	G	A	17: 24,902,119		probably null	Homo
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Nat8f2	T	A	6: 85,867,686	L231F	possibly damaging	Homo
Nfxl1	CC	CCGGGGAC	5: 72,559,121		probably benign	Het
Noc2l	GCT	GCTTCT	4: 156,240,094		probably benign	Het
Noc2l	CTG	CTGTTG	4: 156,240,095		probably benign	Het
Noc2l	GGTAG	GG	4: 156,241,501		probably benign	Homo
Nxpe5	C	T	5: 138,229,934		probably benign	Het
Olfr1038-ps	CAG	CAGAG	2: 86,122,760		probably null	Homo
Olfr418	GGGCTGCTTGTGGCAAT	G	1: 173,270,630		probably null	Het
Olfr568	CT	CTAATTGCCTT	7: 102,877,233		probably benign	Homo
Olfr644	G	C	7: 104,071,292		probably benign	Homo
Olfr890	A	G	9: 38,143,188	I13V	probably benign	Homo
Osmr	C	CTCA	15: 6,837,706		probably null	Homo
Patl2	CTG	CTGTTG	2: 122,126,136		probably benign	Het
Patl2	GC	GCTAC	2: 122,126,144		probably null	Het
Patl2	C	CTGA	2: 122,126,145		probably benign	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,279,367		probably null	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,506		probably benign	Het
Phc1	GCTG	GCTGCTTCTG	6: 122,323,598		probably benign	Het
Pitrm1	TTTTA	T	13: 6,560,596		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,819,680		probably benign	Homo
Pla2g4e	AGGG	A	2: 120,244,724		probably benign	Homo
Plekhs1	AC	ACCTCCCCCGAGCC	19: 56,479,863		probably benign	Het
Pnmal1	CCTCATGATGCACCTGCTTCAACATC	CCTCATGATGCACCTGCTTCAACATCTCATGATGCACCTGCTTCAACATC	7: 16,961,425		probably benign	Homo
Pnmal2	TGGA	T	7: 16,946,006		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Prr13	CTC	CTCATC	15: 102,462,173		probably benign	Het
Prss41	CACA	C	17: 23,844,097		probably benign	Het
Prtg	GTAAC	G	9: 72,857,081		probably benign	Het
Ptk2b	C	T	14: 66,173,849	R411Q	possibly damaging	Homo
Ptms	TCT	TCTGCT	6: 124,914,457		probably benign	Homo
Ptms	TTC	TTCGTC	6: 124,914,459		probably benign	Homo
Ptms	C	CTTG	6: 124,914,461		probably benign	Homo
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Rab3il1	C	A	19: 10,033,751	A264E	probably damaging	Homo
Rbm6	GCTGT	G	9: 107,782,755		probably null	Homo
Rtbdn	TAG	TAGGGGCAG	8: 84,956,161		probably benign	Het
Rtbdn	AGCG	AGCGTCCGCG	8: 84,956,168		probably benign	Het
Rtbdn	CGGC	CGGCAGGGGC	8: 84,956,176		probably benign	Het
Rtbdn	GGC	GGCAGCTGC	8: 84,956,177		probably benign	Het
Sbp	CAAAG	CAAAGCTGCTGACAAAAAAG	17: 23,945,382		probably benign	Het
Sbp	G	GCTGACAACAAAGATC	17: 23,945,389		probably benign	Het
Setd1a	GTGGTAGTG	GTGGTAGTGTTGGTAGTG	7: 127,785,312		probably benign	Het
Sfswap	GCCCACTC	GCCCACTCATCCCACTC	5: 129,569,756		probably benign	Het
Six3	GGC	GGCAGC	17: 85,621,357		probably benign	Het
Six3	GCG	GCGCCG	17: 85,621,358		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,362		probably benign	Het
Six3	GGC	GGCAGC	17: 85,621,363		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,365		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,368		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACTCC	2: 125,154,214		probably benign	Homo
Smarca2	CAGCAGCAGCAGCAGCAGCA	CAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,999		probably benign	Homo
Spaca1	TCGCTC	TCGCTCGCGCTC	4: 34,049,836		probably benign	Het
Spag1	TTC	TTCGTC	15: 36,197,733		probably benign	Het
Spag17	AGG	AGGCGG	3: 100,056,257		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Srpk2	T	C	5: 23,545,196		probably null	Homo
Sry	GTG	GTGTTG	Y: 2,662,837		probably benign	Homo
Sry	TGG	TGGGGG	Y: 2,662,838		probably benign	Homo
Sry	AACTGCT	A	Y: 2,663,195		probably benign	Het
St5	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,556,921		probably benign	Het
Stard9	C	CTAAGGGACTAGTAGG	2: 120,696,085		probably benign	Het
Supt20	GCAGCA	GCAGCAACAGCA	3: 54,727,657		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,658		probably benign	Het
Supt20	CAGCAG	CAGCAGAAGCAG	3: 54,727,661		probably benign	Het
Tcof1	GGGTA	G	18: 60,828,650		probably benign	Homo
Tdpoz3	A	C	3: 93,826,674	N219H	probably benign	Het
Tesk1	C	CCCCG	4: 43,447,004		probably null	Homo
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Tob1	GCA	GCAACA	11: 94,214,464		probably benign	Het
Tob1	A	AGCC	11: 94,214,478		probably benign	Het
Trav15-2-dv6-2	AG	AGAGG	14: 53,649,756		probably benign	Homo
Trav15-2-dv6-2	G	GAAA	14: 53,649,757		probably benign	Homo
Trim63	GAGT	G	4: 134,327,725		probably benign	Het
Tsen2	G	GAGA	6: 115,560,077		probably benign	Het
Ttf2	TC	TCCCC	3: 100,963,160		probably benign	Homo
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,335,313		probably benign	Homo
Ubqlnl	TGAG	T	7: 104,149,835		probably benign	Homo
Ubtf	CCT	CCTACT	11: 102,306,948		probably null	Het
Ubtf	TCC	TCCACC	11: 102,306,950		probably benign	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Wasf3	G	T	5: 146,470,250	R460L	probably damaging	Het
Zc3h13	ATGTGCGAG	ATGTGCGAGGTGTGCGAG	14: 75,323,596		probably benign	Homo
Zc3h13	TGCGAGATG	TGCGAGATGAGCGAGATG	14: 75,323,599		probably benign	Homo
Zfhx3	GCAACA	GCAACAACAACAACA	8: 108,956,088		probably benign	Het
Zfhx3	AGCA	AGCAACAGACGCA	8: 108,956,102		probably benign	Het
Zfhx3	GCA	GCAACAGCACCA	8: 108,956,103		probably benign	Het
Zfp111	TCA	TCAACA	7: 24,199,805		probably benign	Homo
Zfp112	CATGA	CATGATGA	7: 24,125,407		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp282	CGG	CGGGGG	6: 47,904,790		probably benign	Het
Zfp282	CGG	CGGGGG	6: 47,904,799		probably benign	Het
Zfp335	CTC	CTCGTC	2: 164,907,474		probably benign	Het
Zfp335	TCC	TCCGCC	2: 164,907,475		probably benign	Het
Zfp335	TC	TCCCC	2: 164,907,484		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758		probably benign	Het
Zfp462	ACC	ACCTCAGCCACAGTCGCC	4: 55,009,760		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,776		probably benign	Het
Zfp598	ACCACC	ACCACCGCCACC	17: 24,680,782		probably benign	Het
Zfp598	AC	ACCACCGC	17: 24,680,791		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,471		probably benign	Het
Zfp831	CTC	CTCATC	2: 174,645,476		probably benign	Het
Zfp831	TC	TCCGC	2: 174,645,483		probably benign	Het
Zfp93	CAGGCATAG	CAG	7: 24,275,389		probably benign	Homo
Zscan10	TGACG	TG	17: 23,609,445		probably benign	Homo

Other mutations in Piezo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Piezo1	APN	8	122497870	missense	possibly damaging	0.91
IGL01094:Piezo1	APN	8	122482138	missense	probably damaging	0.99
IGL01321:Piezo1	APN	8	122487600	missense	probably damaging	0.99
IGL01695:Piezo1	APN	8	122495509	missense	possibly damaging	0.81
IGL01762:Piezo1	APN	8	122487929	nonsense	probably null
IGL01922:Piezo1	APN	8	122492692	missense	probably benign	0.41
IGL01953:Piezo1	APN	8	122491184	missense	probably damaging	1.00
IGL01997:Piezo1	APN	8	122488331	splice site	probably benign
IGL02381:Piezo1	APN	8	122498544	missense	probably benign	0.28
IGL02398:Piezo1	APN	8	122486563	missense	probably benign	0.21
IGL02562:Piezo1	APN	8	122496763	missense	probably benign	0.11
IGL02572:Piezo1	APN	8	122485305	missense	probably benign	0.28
IGL02691:Piezo1	APN	8	122501949	missense	possibly damaging	0.58
IGL02726:Piezo1	APN	8	122487155	missense	probably damaging	0.99
IGL02814:Piezo1	APN	8	122498215	missense	probably damaging	1.00
IGL02931:Piezo1	APN	8	122483519	missense	probably damaging	1.00
IGL03145:Piezo1	APN	8	122482921	missense	probably benign	0.14
FR4449:Piezo1	UTSW	8	122495569	missense	probably damaging	1.00
FR4548:Piezo1	UTSW	8	122495569	missense	probably damaging	1.00
FR4976:Piezo1	UTSW	8	122495569	missense	probably damaging	1.00
LCD18:Piezo1	UTSW	8	122495569	missense	probably damaging	1.00
R0085:Piezo1	UTSW	8	122501615	missense	probably damaging	0.98
R0096:Piezo1	UTSW	8	122485370	unclassified	probably benign
R0970:Piezo1	UTSW	8	122486810	missense	possibly damaging	0.94
R1364:Piezo1	UTSW	8	122498571	missense	possibly damaging	0.61
R1460:Piezo1	UTSW	8	122502151	missense	possibly damaging	0.86
R1485:Piezo1	UTSW	8	122482049	missense	probably damaging	1.00
R1538:Piezo1	UTSW	8	122491403	missense	probably damaging	1.00
R1655:Piezo1	UTSW	8	122496822	missense	probably benign	0.09
R1700:Piezo1	UTSW	8	122487502	missense	probably damaging	1.00
R1860:Piezo1	UTSW	8	122495750	missense	possibly damaging	0.90
R1861:Piezo1	UTSW	8	122495750	missense	possibly damaging	0.90
R1899:Piezo1	UTSW	8	122482645	unclassified	probably benign
R1899:Piezo1	UTSW	8	122489566	missense	probably damaging	1.00
R1900:Piezo1	UTSW	8	122482645	unclassified	probably benign
R2018:Piezo1	UTSW	8	122482712	missense	probably benign	0.43
R2019:Piezo1	UTSW	8	122482712	missense	probably benign	0.43
R2219:Piezo1	UTSW	8	122491488	missense	probably benign	0.01
R2331:Piezo1	UTSW	8	122487266	splice site	probably null
R3016:Piezo1	UTSW	8	122506027	critical splice donor site	probably null
R3699:Piezo1	UTSW	8	122494903	missense	probably damaging	1.00
R3700:Piezo1	UTSW	8	122494903	missense	probably damaging	1.00
R3746:Piezo1	UTSW	8	122492638	missense	probably damaging	1.00
R3905:Piezo1	UTSW	8	122482143	missense	probably damaging	1.00
R4093:Piezo1	UTSW	8	122501160	critical splice donor site	probably null
R4296:Piezo1	UTSW	8	122491127	missense	probably damaging	1.00
R4396:Piezo1	UTSW	8	122498674	missense	probably damaging	0.98
R4467:Piezo1	UTSW	8	122486396	missense	probably benign	0.17
R4614:Piezo1	UTSW	8	122486411	missense	probably benign	0.25
R4642:Piezo1	UTSW	8	122495454	missense	probably damaging	1.00
R4688:Piezo1	UTSW	8	122488539	missense	probably damaging	1.00
R4734:Piezo1	UTSW	8	122498206	missense	probably damaging	1.00
R4749:Piezo1	UTSW	8	122486939	missense	possibly damaging	0.48
R4749:Piezo1	UTSW	8	122498206	missense	probably damaging	1.00
R4865:Piezo1	UTSW	8	122486921	missense	probably damaging	1.00
R4869:Piezo1	UTSW	8	122487545	missense	probably benign
R4962:Piezo1	UTSW	8	122486481	missense	probably benign	0.41
R5026:Piezo1	UTSW	8	122486818	missense	probably benign	0.11
R5418:Piezo1	UTSW	8	122486780	missense	probably damaging	1.00
R5625:Piezo1	UTSW	8	122482960	missense	probably benign	0.01
R5759:Piezo1	UTSW	8	122507655	missense	probably damaging	0.98
R5864:Piezo1	UTSW	8	122486373	missense	possibly damaging	0.75
R5898:Piezo1	UTSW	8	122487943	missense	probably benign	0.00
R5948:Piezo1	UTSW	8	122483347	missense	probably benign	0.01
R6052:Piezo1	UTSW	8	122506269	missense	probably damaging	1.00
R6086:Piezo1	UTSW	8	122501657	missense	possibly damaging	0.73
R6216:Piezo1	UTSW	8	122489130	missense	probably benign	0.05
R6271:Piezo1	UTSW	8	122494932	missense	probably damaging	1.00
R6549:Piezo1	UTSW	8	122500263	missense
R6723:Piezo1	UTSW	8	122507627	missense	probably benign	0.15
R6871:Piezo1	UTSW	8	122485027	splice site	probably null
R6919:Piezo1	UTSW	8	122490281	missense	probably damaging	1.00
R7085:Piezo1	UTSW	8	122490894	missense
R7105:Piezo1	UTSW	8	122482118	missense	unknown
R7267:Piezo1	UTSW	8	122497529	missense
R7337:Piezo1	UTSW	8	122485724	missense
R7381:Piezo1	UTSW	8	122501658	missense
R7480:Piezo1	UTSW	8	122498495	nonsense	probably null
R7515:Piezo1	UTSW	8	122485296	missense
R7571:Piezo1	UTSW	8	122498418	missense
R7601:Piezo1	UTSW	8	122483481	splice site	probably null
R7827:Piezo1	UTSW	8	122482920	missense	probably damaging	0.96
R7923:Piezo1	UTSW	8	122496444	missense
R7975:Piezo1	UTSW	8	122495765	missense
R8071:Piezo1	UTSW	8	122487011	missense	probably null
R8231:Piezo1	UTSW	8	122506097	missense
R8270:Piezo1	UTSW	8	122501559	missense
R8784:Piezo1	UTSW	8	122496589	splice site	probably benign
R8788:Piezo1	UTSW	8	122501794	missense
R8829:Piezo1	UTSW	8	122491014	missense
R8890:Piezo1	UTSW	8	122489591	missense
R8950:Piezo1	UTSW	8	122481990	missense	probably benign	0.01
R8994:Piezo1	UTSW	8	122483090	missense	unknown
R9036:Piezo1	UTSW	8	122488351	missense
R9145:Piezo1	UTSW	8	122482014	missense	unknown
R9146:Piezo1	UTSW	8	122500263	missense
R9251:Piezo1	UTSW	8	122492615	missense
R9307:Piezo1	UTSW	8	122487093	missense
R9375:Piezo1	UTSW	8	122501865	missense
R9424:Piezo1	UTSW	8	122491340	missense
R9578:Piezo1	UTSW	8	122497475	missense
R9722:Piezo1	UTSW	8	122498758	missense
R9775:Piezo1	UTSW	8	122482188	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CATTCCTGCCAAAAGGATGC -3'
(R):5'- TGACCCTGCCAACTGGTTTG -3'

Sequencing Primer
(F):5'- TGCCAAAAGGATGCCCAGC -3'
(R):5'- CCAACTTGGGCTATATCCAGGTGAG -3'

Posted On

2018-04-05