Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02452:Tjp1'

293697

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

65296165-65527781 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65312655 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1258 (M1258K)

Ref Sequence

ENSEMBL: ENSMUSP00000099652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032729] [ENSMUST00000102592] [ENSMUST00000206612]

PDB Structure

Interplay between phosphatidyl-inositol-phosphates and claudins upon binding to the 1st PDZ domain of zonula occludens 1 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032729
AA Change: M1178K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: M1178K

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	1157	1176	N/A	INTRINSIC
low complexity region	1246	1257	N/A	INTRINSIC
low complexity region	1308	1319	N/A	INTRINSIC
low complexity region	1339	1365	N/A	INTRINSIC
low complexity region	1389	1400	N/A	INTRINSIC
ZU5	1549	1654	1.1e-56	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102592
AA Change: M1258K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: M1258K

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	939	955	N/A	INTRINSIC
low complexity region	1237	1256	N/A	INTRINSIC
low complexity region	1326	1337	N/A	INTRINSIC
low complexity region	1388	1399	N/A	INTRINSIC
low complexity region	1419	1445	N/A	INTRINSIC
low complexity region	1469	1480	N/A	INTRINSIC
ZU5	1629	1735	1.84e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206612

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele show embryonic lethality and growth retardation, failure of embryo turning and chorioallantoic fusion, defective yolk sac angiogenesis, and increased apoptosis in the notochord, neural tube, somite and allantois. Homozygotes for a reporter allele are overtly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,941,970	V11F	probably damaging	Het
Alk	A	T	17: 71,902,625	Y941*	probably null	Het
Armc4	C	T	18: 7,129,461	E906K	probably damaging	Het
Blm	A	T	7: 80,503,377		probably null	Het
Blvrb	T	C	7: 27,459,340	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,317,942	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 66,007,785	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,792,626	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,811,446	S131T	probably benign	Het
Dupd1	G	A	14: 21,702,922	T52I	probably damaging	Het
Dzip3	T	A	16: 48,938,537		probably benign	Het
Espl1	T	C	15: 102,299,839	S427P	probably damaging	Het
Fasn	A	T	11: 120,808,180	D2424E	probably benign	Het
Flrt2	G	A	12: 95,779,483	M198I	probably benign	Het
Gen1	A	T	12: 11,242,575	S404R	probably benign	Het
Gm11596	A	T	11: 99,792,980	C105S	unknown	Het
Gm8765	A	T	13: 50,703,077	H917L	probably damaging	Het
Hdlbp	A	T	1: 93,417,511	V714D	probably damaging	Het
Igkv4-80	A	G	6: 69,016,832	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,171,941	W76*	probably null	Het
Ikzf1	T	C	11: 11,748,545	L132P	probably damaging	Het
Kcna6	C	A	6: 126,738,480	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,841,842	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,474,002	D175E	probably damaging	Het
Lrrtm3	T	C	10: 64,088,036	K451E	probably damaging	Het
Mcm9	C	T	10: 53,541,557	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492	S475R	probably benign	Het
Mmp24	C	T	2: 155,815,788	R533C	probably damaging	Het
Moxd1	C	T	10: 24,282,752	P435S	probably damaging	Het
Mta2	T	A	19: 8,950,306	I497N	probably benign	Het
Mtus2	T	C	5: 148,077,663	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,656,426	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,620,924		probably null	Het
Nid1	A	T	13: 13,508,720	T1128S	probably benign	Het
Olfr583	A	G	7: 103,051,931	D211G	probably benign	Het
Pcdh12	G	A	18: 38,281,693	P793L	probably benign	Het
Pclo	A	T	5: 14,676,966		probably benign	Het
Prpf31	T	A	7: 3,634,186	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,649,085	N656K	probably benign	Het
Ptprn	T	A	1: 75,258,169	H258L	probably benign	Het
Rab19	A	G	6: 39,389,798	T216A	probably benign	Het
Ryr3	A	C	2: 112,833,990	L1652W	probably damaging	Het
Six2	A	C	17: 85,685,378	S232R	possibly damaging	Het
Spag17	T	C	3: 100,027,391	V663A	probably benign	Het
Spag5	A	G	11: 78,304,623	N252S	probably benign	Het
Sptb	C	T	12: 76,609,036		probably null	Het
Synj1	A	G	16: 90,961,365		probably benign	Het
Tekt2	T	C	4: 126,324,852	H36R	possibly damaging	Het
Txnrd3	T	C	6: 89,674,795	*502Q	probably null	Het

Other mutations in Tjp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Tjp1	APN	7	65301219	missense	probably benign
IGL00848:Tjp1	APN	7	65303194	missense	probably benign	0.00
IGL01363:Tjp1	APN	7	65302965	missense	possibly damaging	0.94
IGL01526:Tjp1	APN	7	65322658	missense	probably damaging	1.00
IGL01607:Tjp1	APN	7	65336178	missense	possibly damaging	0.94
IGL02223:Tjp1	APN	7	65322601	missense	probably damaging	1.00
IGL02341:Tjp1	APN	7	65312634	missense	probably damaging	1.00
IGL02347:Tjp1	APN	7	65301064	critical splice donor site	probably null
IGL02512:Tjp1	APN	7	65343667	missense	probably damaging	1.00
IGL02552:Tjp1	APN	7	65299782	nonsense	probably null
IGL02707:Tjp1	APN	7	65329683	nonsense	probably null
IGL02707:Tjp1	APN	7	65329682	missense	possibly damaging	0.85
IGL02939:Tjp1	APN	7	65314890	missense	probably damaging	1.00
IGL03139:Tjp1	APN	7	65340434	splice site	probably benign
IGL03273:Tjp1	APN	7	65299799	missense	probably damaging	1.00
IGL03391:Tjp1	APN	7	65314969	missense	probably damaging	1.00
PIT4453001:Tjp1	UTSW	7	65343614	critical splice donor site	probably null
R0012:Tjp1	UTSW	7	65329775	splice site	probably benign
R0012:Tjp1	UTSW	7	65329775	splice site	probably benign
R0390:Tjp1	UTSW	7	65314990	missense	probably damaging	1.00
R0519:Tjp1	UTSW	7	65302921	missense	probably benign
R0653:Tjp1	UTSW	7	65314755	missense	probably damaging	1.00
R1163:Tjp1	UTSW	7	65323054	missense	probably damaging	1.00
R1544:Tjp1	UTSW	7	65302921	missense	probably benign
R1634:Tjp1	UTSW	7	65302952	missense	possibly damaging	0.94
R1767:Tjp1	UTSW	7	65312553	critical splice donor site	probably null
R1771:Tjp1	UTSW	7	65313005	missense	probably benign	0.45
R1794:Tjp1	UTSW	7	65323129	missense	probably damaging	1.00
R1874:Tjp1	UTSW	7	65319253	missense	probably damaging	1.00
R1971:Tjp1	UTSW	7	65324078	missense	probably damaging	1.00
R1981:Tjp1	UTSW	7	65312855	missense	probably damaging	0.99
R2086:Tjp1	UTSW	7	65312921	missense	probably damaging	1.00
R2310:Tjp1	UTSW	7	65329742	missense	possibly damaging	0.90
R2942:Tjp1	UTSW	7	65318006	missense	probably damaging	1.00
R3974:Tjp1	UTSW	7	65297639	nonsense	probably null
R4295:Tjp1	UTSW	7	65323150	missense	probably damaging	1.00
R4296:Tjp1	UTSW	7	65318489	missense	probably damaging	1.00
R4567:Tjp1	UTSW	7	65306501	missense	probably damaging	1.00
R4574:Tjp1	UTSW	7	65322605	missense	probably damaging	1.00
R4910:Tjp1	UTSW	7	65343727	missense	probably damaging	1.00
R4958:Tjp1	UTSW	7	65336102	nonsense	probably null
R5267:Tjp1	UTSW	7	65323049	missense	probably damaging	1.00
R5371:Tjp1	UTSW	7	65313311	nonsense	probably null
R5422:Tjp1	UTSW	7	65302967	missense	probably damaging	0.99
R5514:Tjp1	UTSW	7	65354861	missense	probably damaging	1.00
R5652:Tjp1	UTSW	7	65312443	splice site	probably null
R5693:Tjp1	UTSW	7	65342663	missense	possibly damaging	0.96
R5933:Tjp1	UTSW	7	65302852	missense	probably benign	0.29
R6043:Tjp1	UTSW	7	65324089	missense	probably damaging	1.00
R6416:Tjp1	UTSW	7	65313205	missense	possibly damaging	0.76
R6491:Tjp1	UTSW	7	65337117	missense	possibly damaging	0.62
R6525:Tjp1	UTSW	7	65343651	missense	probably damaging	1.00
R6658:Tjp1	UTSW	7	65301077	missense	possibly damaging	0.82
R6917:Tjp1	UTSW	7	65299688	missense	probably damaging	0.99
R6960:Tjp1	UTSW	7	65303015	missense	possibly damaging	0.59
R7235:Tjp1	UTSW	7	65318573	missense	probably benign	0.16
R7274:Tjp1	UTSW	7	65527652	missense	possibly damaging	0.86
R7471:Tjp1	UTSW	7	65314690	missense	probably damaging	0.99
R7475:Tjp1	UTSW	7	65322339	missense	probably damaging	1.00
R7479:Tjp1	UTSW	7	65301180	missense	probably damaging	0.98
R8035:Tjp1	UTSW	7	65342702	missense	probably benign	0.34
R8195:Tjp1	UTSW	7	65343722	missense	probably damaging	1.00
R8276:Tjp1	UTSW	7	65343796	intron	probably benign
X0022:Tjp1	UTSW	7	65302841	missense	possibly damaging	0.75
X0027:Tjp1	UTSW	7	65314759	missense	probably benign	0.18
Z1177:Tjp1	UTSW	7	65343732	missense	probably damaging	1.00

Posted On

2015-04-16