Incidental Mutation 'R9226:Tjp3'
ID 699870
Institutional Source Beutler Lab
Gene Symbol Tjp3
Ensembl Gene ENSMUSG00000034917
Gene Name tight junction protein 3
Synonyms ZO-3
MMRRC Submission 068960-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9226 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 81109041-81127415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 81110420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 731 (F731V)
Ref Sequence ENSEMBL: ENSMUSP00000036438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000057798] [ENSMUST00000219460] [ENSMUST00000219479] [ENSMUST00000220297]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045744
AA Change: F731V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: F731V

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: ENSMUST00000057798
SMART Domains Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000218297
Predicted Effect probably benign
Transcript: ENSMUST00000219460
Predicted Effect probably damaging
Transcript: ENSMUST00000219479
AA Change: F731V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000220297
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (57/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,118,518 (GRCm39) M1L probably benign Het
Adgrf4 C A 17: 42,980,606 (GRCm39) A160S probably damaging Het
Adgrl1 T C 8: 84,656,426 (GRCm39) V243A possibly damaging Het
Adgrl4 G T 3: 151,198,064 (GRCm39) probably null Het
Alg8 A G 7: 97,027,423 (GRCm39) Y97C probably damaging Het
Ankrd12 T A 17: 66,292,754 (GRCm39) D893V probably damaging Het
Anxa6 T A 11: 54,885,791 (GRCm39) T385S probably benign Het
Art4 A T 6: 136,831,365 (GRCm39) C259S probably damaging Het
Ccer2 T C 7: 28,456,561 (GRCm39) S102P possibly damaging Het
Cdhr3 A G 12: 33,132,320 (GRCm39) F101S probably damaging Het
Ctdsp1 G T 1: 74,434,735 (GRCm39) G260W probably damaging Het
Cyp24a1 T C 2: 170,338,277 (GRCm39) Y89C probably damaging Het
Cyp2d34 T C 15: 82,504,901 (GRCm39) D53G probably damaging Het
Dnah7a A C 1: 53,560,326 (GRCm39) I2115S possibly damaging Het
Exoc4 T A 6: 33,895,359 (GRCm39) I792N possibly damaging Het
Gm4353 A G 7: 115,683,006 (GRCm39) F192L probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Ift140 T C 17: 25,317,839 (GRCm39) V1441A probably benign Het
Ighv1-49 A T 12: 115,019,073 (GRCm39) C41S probably damaging Het
Lgalsl A T 11: 20,779,306 (GRCm39) I113N possibly damaging Het
Lrp1b T C 2: 41,401,460 (GRCm39) D398G Het
Lrrc4b A G 7: 44,112,099 (GRCm39) H657R possibly damaging Het
Map2k2 T C 10: 80,955,193 (GRCm39) V228A possibly damaging Het
Mdn1 A G 4: 32,694,612 (GRCm39) I1112V probably benign Het
Mipep T A 14: 61,068,692 (GRCm39) M488K possibly damaging Het
Myo15b A G 11: 115,750,924 (GRCm39) T565A Het
Nfat5 T C 8: 108,095,401 (GRCm39) L1214P probably damaging Het
Nphp3 A G 9: 103,885,328 (GRCm39) T223A probably benign Het
Or10s1 A G 9: 39,986,187 (GRCm39) I199V probably benign Het
Or52s19 A G 7: 103,008,092 (GRCm39) M103T probably damaging Het
Pkn2 G A 3: 142,499,709 (GRCm39) R939W probably damaging Het
Pla2g4c T C 7: 13,059,671 (GRCm39) C3R possibly damaging Het
Plxnd1 A T 6: 115,934,524 (GRCm39) I1803N probably damaging Het
Pygb C A 2: 150,662,781 (GRCm39) H583N possibly damaging Het
Rbm20 A G 19: 53,839,645 (GRCm39) D878G possibly damaging Het
Rdx C A 9: 51,992,468 (GRCm39) Q414K probably benign Het
Scara3 T C 14: 66,169,233 (GRCm39) E128G possibly damaging Het
Sel1l2 T C 2: 140,097,222 (GRCm39) Y361C probably damaging Het
Sfmbt2 T C 2: 10,442,860 (GRCm39) I179T probably benign Het
Sgsm2 C T 11: 74,748,960 (GRCm39) V567M possibly damaging Het
Sirt4 G A 5: 115,618,372 (GRCm39) T234M probably damaging Het
Stab1 T G 14: 30,867,812 (GRCm39) K1653Q probably benign Het
Strn4 T C 7: 16,559,722 (GRCm39) probably benign Het
Stxbp5l C A 16: 37,076,206 (GRCm39) S280I probably damaging Het
Tex30 G A 1: 44,126,133 (GRCm39) R199W probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmco3 A G 8: 13,360,143 (GRCm39) probably null Het
Tmem94 C A 11: 115,683,191 (GRCm39) A658E probably damaging Het
Tnxb T A 17: 34,904,766 (GRCm39) L1177Q probably damaging Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Upf2 T A 2: 6,051,845 (GRCm39) V1169D unknown Het
Usp20 C A 2: 30,907,412 (GRCm39) A648D probably damaging Het
Vmn2r108 T G 17: 20,691,330 (GRCm39) N398H probably benign Het
Whamm A T 7: 81,243,655 (GRCm39) S626C probably damaging Het
Zbtb44 A G 9: 30,975,524 (GRCm39) S385G possibly damaging Het
Zfp580 C T 7: 5,056,137 (GRCm39) Q166* probably null 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
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
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
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'- GCCTGCTGTTGCTGTATTAC -3'
(R):5'- GTTACCACAGACACTCCGTC -3'

Sequencing Primer
(F):5'- GTATTACAGCCTTGACTTCCTGG -3'
(R):5'- GTCTGTCTTAGGATAAGCACGCAC -3'
Posted On 2022-02-07