Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02826:Tjp3'

361212

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tjp3

Ensembl Gene

ENSMUSG00000034917

Gene Name

tight junction protein 3

Synonyms

ZO-3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

81273207-81291581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81273689 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 858 (S858C)

Ref Sequence

ENSEMBL: ENSMUSP00000151601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000057798] [ENSMUST00000218742] [ENSMUST00000219304] [ENSMUST00000219460] [ENSMUST00000219479] [ENSMUST00000220297]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045744
AA Change: S858C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: S858C

Domain	Start	End	E-Value	Type
PDZ	20	93	2.81e-18	SMART
low complexity region	119	162	N/A	INTRINSIC
PDZ	196	264	2.71e-11	SMART
low complexity region	297	305	N/A	INTRINSIC
PDZ	378	451	4.97e-19	SMART
SH3	466	539	9.96e-2	SMART
low complexity region	548	559	N/A	INTRINSIC
GuKc	570	756	6.9e-46	SMART
Blast:GuKc	767	898	9e-27	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000057798

SMART Domains

Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931

Domain	Start	End	E-Value	Type
low complexity region	5	14	N/A	INTRINSIC
low complexity region	98	120	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
PTB	213	359	3.03e-40	SMART
PDZ	400	478	3.74e-14	SMART
PDZ	492	557	9.58e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218146

Predicted Effect

probably benign
Transcript: ENSMUST00000218297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218520

Predicted Effect

probably benign
Transcript: ENSMUST00000218742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219294

Predicted Effect

probably benign
Transcript: ENSMUST00000219304

Predicted Effect

probably benign
Transcript: ENSMUST00000219460

Predicted Effect

probably damaging
Transcript: ENSMUST00000219479
AA Change: S858C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219919

Predicted Effect

probably benign
Transcript: ENSMUST00000220297

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 member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous mutation of this gene results in viable and fertile mice with no abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	C	16: 90,926,062	D261E	probably benign	Het
1810041L15Rik	A	G	15: 84,420,129		probably benign	Het
4930404N11Rik	A	G	10: 81,364,736		probably benign	Het
A3galt2	T	C	4: 128,761,509		probably benign	Het
Alk	C	T	17: 71,869,536	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,228,315	S34P	probably benign	Het
Atp2a2	A	G	5: 122,489,291	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770	M845V	probably damaging	Het
Camk1d	A	G	2: 5,565,760	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,882,610	T193I	probably benign	Het
Chst15	T	A	7: 132,266,746	D315V	probably damaging	Het
Cux1	G	T	5: 136,308,003	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,185,481	E88K	possibly damaging	Het
Dido1	A	G	2: 180,683,958	V479A	probably benign	Het
Dlc1	G	T	8: 36,570,275		probably benign	Het
H2-Ab1	G	A	17: 34,264,911	R82Q	probably damaging	Het
Hps6	T	A	19: 46,006,041	*806K	probably null	Het
Ilf3	T	C	9: 21,398,044	S486P	probably benign	Het
Kdm1b	C	A	13: 47,080,467	T759K	probably damaging	Het
Kirrel	C	A	3: 87,088,485	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,577,144	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,828,737	Y100H	probably damaging	Het
Mastl	T	C	2: 23,145,409	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,962,148	E1576G	probably damaging	Het
Nek3	A	T	8: 22,160,368		probably null	Het
Nipal3	G	T	4: 135,468,550	Y247*	probably null	Het
Nt5e	A	C	9: 88,355,705	K229N	probably damaging	Het
Olfr237-ps1	A	G	6: 43,153,577	I91V	possibly damaging	Het
Olfr974	G	T	9: 39,942,958	G233C	probably damaging	Het
Opa1	A	G	16: 29,610,887	M290V	probably null	Het
Parp2	T	A	14: 50,815,415	I155K	probably benign	Het
Pde4dip	G	T	3: 97,767,087	A171E	probably damaging	Het
Prom2	C	T	2: 127,531,116	E678K	probably benign	Het
Rab12	A	G	17: 66,498,116		probably benign	Het
Rgs8	A	T	1: 153,670,799	T13S	probably damaging	Het
Setd3	A	G	12: 108,112,124		probably benign	Het
Slx4ip	G	A	2: 137,004,973	V53I	probably damaging	Het
Stil	A	G	4: 115,024,098	D613G	probably benign	Het
Tmem215	A	G	4: 40,474,632	*236W	probably null	Het
Ttbk1	A	G	17: 46,470,660	V389A	probably benign	Het
Wdfy4	A	G	14: 32,971,750	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,629,420	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,400,904	S428G	probably benign	Het
Zfp286	T	C	11: 62,787,960	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,398,754	K468E	probably damaging	Het

Other mutations in Tjp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Tjp3	APN	10	81273865	missense	probably benign
IGL01739:Tjp3	APN	10	81278656	missense	probably benign	0.09
IGL03145:Tjp3	APN	10	81283688	missense	probably benign	0.05
PIT4480001:Tjp3	UTSW	10	81279257	missense	probably damaging	1.00
R0561:Tjp3	UTSW	10	81273840	missense	probably benign
R0562:Tjp3	UTSW	10	81280555	missense	probably damaging	0.99
R1099:Tjp3	UTSW	10	81273823	missense	probably benign
R1618:Tjp3	UTSW	10	81276260	unclassified	probably benign
R1786:Tjp3	UTSW	10	81278054	missense	possibly damaging	0.52
R1955:Tjp3	UTSW	10	81277999	missense	probably damaging	1.00
R2107:Tjp3	UTSW	10	81280544	missense	possibly damaging	0.67
R2130:Tjp3	UTSW	10	81278054	missense	possibly damaging	0.52
R2131:Tjp3	UTSW	10	81278054	missense	possibly damaging	0.52
R2132:Tjp3	UTSW	10	81278054	missense	possibly damaging	0.52
R2133:Tjp3	UTSW	10	81278054	missense	possibly damaging	0.52
R2178:Tjp3	UTSW	10	81280107	missense	probably benign	0.17
R3054:Tjp3	UTSW	10	81280507	missense	probably benign	0.13
R3055:Tjp3	UTSW	10	81280507	missense	probably benign	0.13
R5470:Tjp3	UTSW	10	81279547	missense	probably benign	0.04
R5645:Tjp3	UTSW	10	81278620	splice site	probably null
R5918:Tjp3	UTSW	10	81277912	missense	probably benign	0.01
R6108:Tjp3	UTSW	10	81281146	missense	probably benign
R6245:Tjp3	UTSW	10	81277276	missense	probably benign	0.02
R6300:Tjp3	UTSW	10	81281117	nonsense	probably null

Posted On

2015-12-18