Mutagenetix > Incidental Mutation

Incidental Mutation 'R2130:Tjp3'

227964

Institutional Source

Beutler Lab

Gene Symbol

Tjp3

Ensembl Gene

ENSMUSG00000034917

Gene Name

tight junction protein 3

Synonyms

ZO-3

MMRRC Submission

040133-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81109041-81127415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81113888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 457 (M457L)

Ref Sequence

ENSEMBL: ENSMUSP00000151601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000057798] [ENSMUST00000218484] [ENSMUST00000219479] [ENSMUST00000220297]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045744
AA Change: M457L

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: M457L

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: ENSMUST00000218146

Predicted Effect

probably benign
Transcript: ENSMUST00000218297

Predicted Effect

probably benign
Transcript: ENSMUST00000218484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218966

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219479
AA Change: M457L

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000220297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219958

Meta Mutation Damage Score

0.0776

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Aadacl2fm3	T	C	3: 59,772,769 (GRCm39)	V91A	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,729,846 (GRCm39)	T212A	possibly damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apaf1	A	T	10: 90,896,027 (GRCm39)	Y348*	probably null	Het
Apobr	A	G	7: 126,186,378 (GRCm39)	T630A	probably benign	Het
Arhgap23	A	G	11: 97,342,387 (GRCm39)	D223G	possibly damaging	Het
Asic1	A	T	15: 99,569,756 (GRCm39)	T26S	possibly damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,643,426 (GRCm39)	G438D	probably damaging	Het
Bbc3	T	C	7: 16,046,268 (GRCm39)	V68A	possibly damaging	Het
Birc6	T	C	17: 74,966,149 (GRCm39)		probably benign	Het
Btnl9	A	G	11: 49,071,523 (GRCm39)	F100S	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccpg1	A	G	9: 72,920,440 (GRCm39)	N685S	probably damaging	Het
Ces3b	T	A	8: 105,819,607 (GRCm39)		probably null	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clhc1	A	G	11: 29,507,663 (GRCm39)	I126V	probably benign	Het
Crocc	T	C	4: 140,756,413 (GRCm39)	I1071V	probably benign	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,271,370 (GRCm39)	S62P	possibly damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Dram2	T	A	3: 106,478,076 (GRCm39)	M136K	possibly damaging	Het
Dtx2	T	A	5: 136,040,894 (GRCm39)	F100I	probably damaging	Het
Dync2h1	A	T	9: 7,011,253 (GRCm39)	W3654R	probably damaging	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fgf17	T	C	14: 70,875,927 (GRCm39)	R102G	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm6578	C	A	6: 12,100,186 (GRCm39)		noncoding transcript	Het
Gm8374	T	C	14: 18,537,078 (GRCm39)	T49A	probably damaging	Het
Gm9797	G	T	10: 11,485,113 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,350,805 (GRCm39)		probably null	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Isoc2b	A	T	7: 4,854,438 (GRCm39)	I31N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Krtap16-1	A	T	11: 99,876,602 (GRCm39)	C267*	probably null	Het
Lamc2	T	A	1: 153,002,870 (GRCm39)	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,328,557 (GRCm39)	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,232,068 (GRCm39)	F214S	probably damaging	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Niban2	A	G	2: 32,813,659 (GRCm39)	K624R	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or56a5	T	A	7: 104,792,757 (GRCm39)	I254F	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psph	T	A	5: 129,864,603 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,388,114 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,339,243 (GRCm39)		probably benign	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Rnf17	T	C	14: 56,730,811 (GRCm39)	V1205A	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Sgo2b	T	C	8: 64,380,181 (GRCm39)	R884G	probably benign	Het
Slc10a5	G	T	3: 10,400,278 (GRCm39)	D127E	probably benign	Het
Slc25a35	T	G	11: 68,859,791 (GRCm39)	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,302,000 (GRCm39)	L194P	possibly damaging	Het
Snw1	T	G	12: 87,499,473 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764 (GRCm39)		probably benign	Het
Ssxa1	T	A	X: 20,985,581 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	T	A	14: 27,168,345 (GRCm39)	Y296N	probably damaging	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tkfc	A	G	19: 10,573,405 (GRCm39)	I279T	probably damaging	Het
Tmem98	A	G	11: 80,708,348 (GRCm39)	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttn	T	C	2: 76,572,861 (GRCm39)	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,500,815 (GRCm39)	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,546 (GRCm39)	I1683N	probably benign	Het
Vps13d	C	T	4: 144,882,671 (GRCm39)	R968H	probably benign	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Vwf	C	T	6: 125,634,020 (GRCm39)	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp459	A	T	13: 67,556,395 (GRCm39)	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,842,648 (GRCm39)	Y15*	probably null	Het

Other mutations in Tjp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Tjp3	APN	10	81,109,699 (GRCm39)	missense	probably benign
IGL01739:Tjp3	APN	10	81,114,490 (GRCm39)	missense	probably benign	0.09
IGL02826:Tjp3	APN	10	81,109,523 (GRCm39)	missense	probably damaging	0.98
IGL03145:Tjp3	APN	10	81,119,522 (GRCm39)	missense	probably benign	0.05
PIT4480001:Tjp3	UTSW	10	81,115,091 (GRCm39)	missense	probably damaging	1.00
R0561:Tjp3	UTSW	10	81,109,674 (GRCm39)	missense	probably benign
R0562:Tjp3	UTSW	10	81,116,389 (GRCm39)	missense	probably damaging	0.99
R1099:Tjp3	UTSW	10	81,109,657 (GRCm39)	missense	probably benign
R1618:Tjp3	UTSW	10	81,112,094 (GRCm39)	unclassified	probably benign
R1786:Tjp3	UTSW	10	81,113,888 (GRCm39)	missense	possibly damaging	0.52
R1955:Tjp3	UTSW	10	81,113,833 (GRCm39)	missense	probably damaging	1.00
R2107:Tjp3	UTSW	10	81,116,378 (GRCm39)	missense	possibly damaging	0.67
R2131:Tjp3	UTSW	10	81,113,888 (GRCm39)	missense	possibly damaging	0.52
R2132:Tjp3	UTSW	10	81,113,888 (GRCm39)	missense	possibly damaging	0.52
R2133:Tjp3	UTSW	10	81,113,888 (GRCm39)	missense	possibly damaging	0.52
R2178:Tjp3	UTSW	10	81,115,941 (GRCm39)	missense	probably benign	0.17
R3054:Tjp3	UTSW	10	81,116,341 (GRCm39)	missense	probably benign	0.13
R3055:Tjp3	UTSW	10	81,116,341 (GRCm39)	missense	probably benign	0.13
R5470:Tjp3	UTSW	10	81,115,381 (GRCm39)	missense	probably benign	0.04
R5645:Tjp3	UTSW	10	81,114,454 (GRCm39)	splice site	probably null
R5918:Tjp3	UTSW	10	81,113,746 (GRCm39)	missense	probably benign	0.01
R6108:Tjp3	UTSW	10	81,116,980 (GRCm39)	missense	probably benign
R6245:Tjp3	UTSW	10	81,113,110 (GRCm39)	missense	probably benign	0.02
R6300:Tjp3	UTSW	10	81,116,951 (GRCm39)	nonsense	probably null
R7686:Tjp3	UTSW	10	81,113,885 (GRCm39)	missense	probably benign	0.00
R7958:Tjp3	UTSW	10	81,118,828 (GRCm39)	missense	possibly damaging	0.56
R8137:Tjp3	UTSW	10	81,109,525 (GRCm39)	missense	probably benign	0.00
R8240:Tjp3	UTSW	10	81,109,641 (GRCm39)	missense	probably benign	0.06
R8317:Tjp3	UTSW	10	81,116,324 (GRCm39)	missense	probably benign	0.11
R9226:Tjp3	UTSW	10	81,110,420 (GRCm39)	missense	probably damaging	1.00
R9548:Tjp3	UTSW	10	81,113,833 (GRCm39)	missense	probably damaging	1.00
R9610:Tjp3	UTSW	10	81,119,411 (GRCm39)	missense	possibly damaging	0.57
R9611:Tjp3	UTSW	10	81,119,411 (GRCm39)	missense	possibly damaging	0.57
R9682:Tjp3	UTSW	10	81,109,645 (GRCm39)	missense	probably benign	0.09
R9790:Tjp3	UTSW	10	81,109,694 (GRCm39)	missense	probably benign	0.00
R9791:Tjp3	UTSW	10	81,109,694 (GRCm39)	missense	probably benign	0.00
Z1176:Tjp3	UTSW	10	81,116,943 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTCAGCAATGGGAATGGTG -3'
(R):5'- ATATTTACAGAGACCCGAGGTGG -3'

Sequencing Primer
(F):5'- ATGACGCCGCGTTCTTG -3'
(R):5'- TAATCATCGCACTCAGGTGG -3'

Posted On

2014-09-17