Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01695:Piezo1'

104259

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01695

Quality Score

Status

Chromosome

Chromosomal Location

122481698-122551329 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122495509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 961 (C961S)

Ref Sequence

ENSEMBL: ENSMUSP00000089777 (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: C961S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: C961S

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

possibly damaging
Transcript: ENSMUST00000128383
AA Change: C523S

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444
AA Change: C523S

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: C308S

SMART Domains

Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444
AA Change: C308S

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: C962S

SMART Domains

Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: C962S

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,265,193	V177A	probably benign	Het
Ap3b2	T	A	7: 81,476,939		probably benign	Het
Arfgef3	T	C	10: 18,603,419	T1483A	probably benign	Het
Arl5a	A	T	2: 52,412,105	I99N	probably damaging	Het
Bahcc1	G	A	11: 120,276,609	G1279R	probably benign	Het
Bbs5	A	G	2: 69,649,090	N43S	probably damaging	Het
Cdh23	C	T	10: 60,331,833	V1795M	probably benign	Het
Cep350	T	C	1: 155,944,158	E353G	probably damaging	Het
Cps1	A	T	1: 67,197,035	I976L	probably benign	Het
Ctdp1	A	T	18: 80,449,626	S551R	probably damaging	Het
Cyp2b19	C	T	7: 26,759,064	T68I	probably damaging	Het
Esr2	A	G	12: 76,145,319	S312P	probably damaging	Het
Fam26e	A	G	10: 34,092,202	V285A	possibly damaging	Het
Gm11639	A	T	11: 104,736,063	E864D	probably damaging	Het
Gm6408	A	G	5: 146,482,129		probably benign	Het
Krt9	A	T	11: 100,191,437		probably null	Het
Myh6	T	C	14: 54,957,413	T662A	probably benign	Het
Ntn1	T	C	11: 68,226,604	D473G	probably benign	Het
Olfr576	T	C	7: 102,965,583	F161S	probably damaging	Het
Pik3c2a	T	C	7: 116,417,518	T335A	possibly damaging	Het
Plaa	A	T	4: 94,574,037	Y140*	probably null	Het
Plxnb2	T	C	15: 89,157,214	I1749V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,064,003	N555K	probably damaging	Het
Ptprn2	T	A	12: 116,841,388	H174Q	probably benign	Het
Reln	G	A	5: 21,920,438	T2749M	probably damaging	Het
Scarf1	A	G	11: 75,521,957	N384S	probably damaging	Het
Scrt1	T	A	15: 76,518,950	H280L	unknown	Het
Serpina1f	C	A	12: 103,693,684	C113F	probably damaging	Het
Setdb2	A	T	14: 59,402,293		probably benign	Het
Strc	A	G	2: 121,375,298	L830P	probably damaging	Het
Tifab	T	C	13: 56,176,385	S82G	probably benign	Het
Tmem217	T	A	17: 29,526,348	H136L	probably damaging	Het
Trio	T	C	15: 27,773,001	E715G	probably damaging	Het
Ttn	A	T	2: 76,944,016	M2182K	probably damaging	Het
Ube2d1	T	C	10: 71,262,252	D12G	probably damaging	Het
Utrn	T	C	10: 12,745,342	D195G	probably benign	Het

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
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
FR4737: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

Posted On

2014-01-21