Mutagenetix > Incidental Mutations

Incidental Mutation 'R0562:Tjp3'

45960

Institutional Source

Beutler Lab

Gene Symbol

Tjp3

Ensembl Gene

ENSMUSG00000034917

Gene Name

tight junction protein 3

Synonyms

ZO-3

MMRRC Submission

038753-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0562 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81273207-81291581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81280555 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 235 (V235A)

Ref Sequence

ENSEMBL: ENSMUSP00000151601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000218484] [ENSMUST00000219479]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045744
AA Change: V235A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: V235A

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: ENSMUST00000218484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218966

Predicted Effect

probably damaging
Transcript: ENSMUST00000219479
AA Change: V235A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219958

Meta Mutation Damage Score

0.2221

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	T	C	7: 139,977,113	M120V	probably benign	Het
9530053A07Rik	G	A	7: 28,162,690	V2394I	probably benign	Het
Acadsb	C	T	7: 131,425,789	Q63*	probably null	Het
Adam26b	A	T	8: 43,520,371	N531K	probably benign	Het
Agt	A	G	8: 124,559,275	I356T	probably benign	Het
Ankmy1	A	T	1: 92,899,691		probably benign	Het
Anxa3	C	T	5: 96,812,884	S49L	possibly damaging	Het
Arap3	C	A	18: 37,975,540	R1279L	probably damaging	Het
Azin1	A	G	15: 38,493,581	I266T	probably benign	Het
Btnl7-ps	T	C	17: 34,533,524		noncoding transcript	Het
Car5a	T	A	8: 121,944,730	T22S	probably benign	Het
Card6	A	G	15: 5,105,166	I185T	probably damaging	Het
Ccdc81	T	C	7: 89,903,229	D11G	probably benign	Het
Cep170b	T	C	12: 112,739,189	V1127A	probably benign	Het
Ces1h	T	C	8: 93,357,143	I390M	unknown	Het
Col9a1	T	A	1: 24,179,279		probably null	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
Cyb561a3	T	C	19: 10,586,710	V138A	probably benign	Het
Dcaf1	T	C	9: 106,844,122		probably benign	Het
Dnah17	A	G	11: 118,072,900	Y2516H	probably damaging	Het
Dsc2	T	A	18: 20,041,537	N521Y	probably damaging	Het
Dst	G	A	1: 34,227,981	E4835K	probably damaging	Het
Duox2	T	C	2: 122,289,599	E810G	probably damaging	Het
Dusp15	T	C	2: 152,951,348	N3S	possibly damaging	Het
Epha4	T	C	1: 77,388,487	K625R	probably benign	Het
Gata5	C	T	2: 180,327,759		probably null	Het
Gm10264	A	G	12: 88,329,666	D138G	unknown	Het
Gm14139	T	A	2: 150,192,574	C303S	probably damaging	Het
Grm5	A	G	7: 87,603,019	N159S	probably damaging	Het
Hivep3	T	A	4: 120,096,554	M689K	probably benign	Het
Ilvbl	G	T	10: 78,583,487	G499C	probably damaging	Het
Inpp4b	T	C	8: 81,768,151	I65T	possibly damaging	Het
Jarid2	T	C	13: 44,902,359	V208A	probably damaging	Het
Kcnh4	T	C	11: 100,750,244	M460V	possibly damaging	Het
Klhl22	A	G	16: 17,792,624	N580D	probably benign	Het
Klk15	T	A	7: 43,938,845	C192*	probably null	Het
Klk9	A	G	7: 43,795,666	E194G	probably damaging	Het
Lama1	G	T	17: 67,815,959	G2779V	probably damaging	Het
Lmln	C	T	16: 33,117,085	R607*	probably null	Het
Maea	T	C	5: 33,372,301	V377A	probably benign	Het
Matk	A	T	10: 81,259,691	Y115F	probably benign	Het
Mettl18	A	G	1: 163,996,493	K128E	probably benign	Het
Mrps22	T	C	9: 98,592,693	H246R	probably benign	Het
Msln	A	T	17: 25,753,006	M79K	probably benign	Het
Myf6	G	A	10: 107,494,559	P49L	probably benign	Het
Nat1	C	T	8: 67,491,311	T113I	possibly damaging	Het
Ncor2	C	T	5: 125,085,029	V394M	unknown	Het
Oas1c	T	C	5: 120,805,604		probably benign	Het
Olfr1053	T	A	2: 86,314,525	T254S	probably benign	Het
Otp	A	T	13: 94,877,409	T112S	probably damaging	Het
Pcdh7	A	G	5: 57,720,063	N320S	probably damaging	Het
Pdzd2	G	T	15: 12,592,278	F93L	probably damaging	Het
Phf20l1	A	G	15: 66,609,604	E283G	probably damaging	Het
Polr1e	T	C	4: 45,029,421	F342S	probably damaging	Het
Pp2d1	T	A	17: 53,539,168		probably benign	Het
Ptpn13	T	A	5: 103,516,425		probably null	Het
Reg3g	A	T	6: 78,467,488	H107Q	possibly damaging	Het
Rgl1	T	C	1: 152,539,945	K408E	probably damaging	Het
Samd4	T	C	14: 47,077,509	C309R	probably damaging	Het
Sestd1	C	A	2: 77,230,722	W104L	probably benign	Het
Sfmbt1	T	A	14: 30,811,373		probably null	Het
Slc22a21	T	A	11: 53,979,620	K80*	probably null	Het
Snx20	T	A	8: 88,630,002	Q62L	probably benign	Het
Stk40	C	A	4: 126,138,801		probably benign	Het
Taf2	A	T	15: 55,022,188		probably benign	Het
Tcf23	C	T	5: 30,970,310	P152L	probably damaging	Het
Tex29	T	C	8: 11,844,138		probably benign	Het
Tns3	A	T	11: 8,493,262	I367N	possibly damaging	Het
Ttc26	T	A	6: 38,401,129	V292E	probably damaging	Het
Ttn	T	A	2: 76,712,911	M33244L	probably benign	Het
Ush2a	A	T	1: 188,356,847	N333I	probably damaging	Het
Usp34	T	C	11: 23,432,406		probably benign	Het
Vmn1r204	A	C	13: 22,556,678	S160R	probably benign	Het
Vmn2r75	C	T	7: 86,148,241	W788*	probably null	Het
Vwa5b1	T	C	4: 138,635,711		probably benign	Het
Zbtb7a	A	G	10: 81,148,329	E535G	probably benign	Het
Zranb3	T	C	1: 128,036,558	D144G	probably benign	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
IGL02826:Tjp3	APN	10	81273689	missense	probably damaging	0.98
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
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
R7686:Tjp3	UTSW	10	81278051	missense	probably benign	0.00
R7958:Tjp3	UTSW	10	81282994	missense	possibly damaging	0.56
R8137:Tjp3	UTSW	10	81273691	missense	probably benign	0.00
R8240:Tjp3	UTSW	10	81273807	missense	probably benign	0.06
R8317:Tjp3	UTSW	10	81280490	missense	probably benign	0.11
Z1176:Tjp3	UTSW	10	81281109	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCCATTAGGGAGCTGTCGCTGTC -3'
(R):5'- ACATCACGGAATCTGGCCTTGC -3'

Sequencing Primer
(F):5'- GTCGCTGTCGCTCACTG -3'
(R):5'- GAGACCTTATCTTACAGGTGAGCC -3'

Posted On

2013-06-11