Incidental Mutation 'PIT4480001:Tjp3'
ID 554871
Institutional Source Beutler Lab
Gene Symbol Tjp3
Ensembl Gene ENSMUSG00000034917
Gene Name tight junction protein 3
Synonyms ZO-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4480001 (G1)
Quality Score 91.0077
Status Not validated
Chromosome 10
Chromosomal Location 81109041-81127415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81115091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 396 (G396W)
Ref Sequence ENSEMBL: ENSMUSP00000036438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000218484] [ENSMUST00000219479]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045744
AA Change: G396W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: G396W

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000219479
AA Change: G396W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.7%
  • 10x: 83.8%
  • 20x: 69.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 G A 19: 4,917,605 (GRCm39) Q413* probably null Het
Ahnak2 C T 12: 112,740,358 (GRCm39) S1238N possibly damaging Het
Arsk T C 13: 76,210,484 (GRCm39) E521G probably damaging Het
Baiap2 A G 11: 119,887,913 (GRCm39) T356A probably benign Het
Baz1b G A 5: 135,246,819 (GRCm39) R756H probably damaging Het
Celsr1 G A 15: 85,916,615 (GRCm39) P453S probably damaging Het
Cep41 G A 6: 30,658,412 (GRCm39) P196S probably damaging Het
Cln5 T A 14: 103,309,214 (GRCm39) Y89* probably null Het
Cntnap3 A G 13: 64,905,024 (GRCm39) F919S probably damaging Het
Cntrl C T 2: 35,045,440 (GRCm39) H1383Y probably damaging Het
Cobl A G 11: 12,203,592 (GRCm39) S1037P probably benign Het
Col17a1 A T 19: 47,659,813 (GRCm39) S380T probably benign Het
Cyrib G A 15: 63,828,490 (GRCm39) T11I probably benign Het
Dagla A T 19: 10,238,022 (GRCm39) S323T probably benign Het
Dicer1 G T 12: 104,662,803 (GRCm39) Q1593K probably benign Het
Dnah6 T C 6: 73,078,863 (GRCm39) I2367V probably benign Het
Emc1 T C 4: 139,086,588 (GRCm39) S184P possibly damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Erbb4 A T 1: 68,114,702 (GRCm39) M914K probably damaging Het
Eva1a A G 6: 82,068,784 (GRCm39) E37G probably damaging Het
Fyco1 G T 9: 123,657,715 (GRCm39) Y820* probably null Het
Gipr T C 7: 18,896,859 (GRCm39) Y137C probably damaging Het
Gm5414 A G 15: 101,536,181 (GRCm39) V148A probably damaging Het
Gpn1 T C 5: 31,654,685 (GRCm39) V79A probably damaging Het
Grk2 G A 19: 4,337,437 (GRCm39) R617C possibly damaging Het
Inpp4b A C 8: 82,772,896 (GRCm39) E730A probably damaging Het
Inpp5f C T 7: 128,286,858 (GRCm39) T579I probably benign Het
Kif15 A T 9: 122,840,608 (GRCm39) M1201L probably benign Het
Ltbp3 A G 19: 5,801,254 (GRCm39) N631S possibly damaging Het
Mdh1 G A 11: 21,508,538 (GRCm39) S268L probably damaging Het
Mgat4e T A 1: 134,469,103 (GRCm39) T314S possibly damaging Het
Nsd1 A G 13: 55,361,731 (GRCm39) Q233R probably benign Het
Or11g1 T C 14: 50,651,372 (GRCm39) F124L probably benign Het
Or5w17 T C 2: 87,584,127 (GRCm39) D70G possibly damaging Het
Paqr5 T A 9: 61,863,438 (GRCm39) I295L probably benign Het
Peg10 C T 6: 4,756,560 (GRCm39) H379Y unknown Het
Phtf2 A T 5: 21,018,242 (GRCm39) I33N probably damaging Het
Plcb2 T C 2: 118,553,977 (GRCm39) M115V probably benign Het
Ppp2r3d A G 9: 101,003,576 (GRCm39) Y431H possibly damaging Het
Prph2 GT G 17: 47,222,039 (GRCm39) probably null Het
Psmd1 C T 1: 86,055,960 (GRCm39) P774L probably damaging Het
Ranbp17 A T 11: 33,247,340 (GRCm39) probably null Het
Rptn A G 3: 93,304,977 (GRCm39) D770G possibly damaging Het
Serac1 A G 17: 6,101,087 (GRCm39) L439P probably damaging Het
Slitrk6 TTTTAGTCTGTTCTACCAACACCTT TTT 14: 110,987,257 (GRCm39) probably null Het
Sox6 T C 7: 115,196,744 (GRCm39) I295M probably benign Het
Spata31h1 T C 10: 82,119,586 (GRCm39) M4475V probably benign Het
Sulf1 T A 1: 12,929,637 (GRCm39) D301E probably benign Het
Tas2r117 G A 6: 132,780,014 (GRCm39) V51I possibly damaging Het
Tbx2 C T 11: 85,725,561 (GRCm39) R171C probably damaging Het
Tgfbr1 A G 4: 47,402,955 (GRCm39) I320V probably benign Het
Tmprss2 T C 16: 97,400,460 (GRCm39) N4D possibly damaging Het
Tnfaip3 T C 10: 18,883,071 (GRCm39) N165D probably benign Het
Tnfrsf21 A T 17: 43,348,802 (GRCm39) Y138F probably benign Het
Utp4 T C 8: 107,632,817 (GRCm39) S267P probably benign Het
Wnk1 A T 6: 119,940,328 (GRCm39) L803* probably null Het
Zbbx T A 3: 75,043,794 (GRCm39) D35V probably damaging Het
Zscan12 T G 13: 21,552,744 (GRCm39) N189K possibly damaging Het
Other mutations in Tjp3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R2130:Tjp3 UTSW 10 81,113,888 (GRCm39) missense possibly damaging 0.52
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'- ACCAGGTTGGAAAGCCTCAG -3'
(R):5'- GCTTGGAAAACCAAGTCCTG -3'

Sequencing Primer
(F):5'- GCCTGTGATTCCAACATTCAAGTGG -3'
(R):5'- CTTGGAAAACCAAGTCCTGTAAAG -3'
Posted On 2019-06-07