Incidental Mutation 'IGL02826:Tjp3'
ID 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
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02826
Quality Score
Status
Chromosome 10
Chromosomal Location 81109041-81127415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81109523 bp (GRCm39)
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] [ENSMUST00000219479] [ENSMUST00000219460] [ENSMUST00000218742] [ENSMUST00000219304] [ENSMUST00000220297]
AlphaFold no structure available at present
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

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 noncoding transcript
Transcript: ENSMUST00000175040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218146
Predicted Effect probably benign
Transcript: ENSMUST00000218297
Predicted Effect probably damaging
Transcript: ENSMUST00000219479
AA Change: S858C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000219460
Predicted Effect probably benign
Transcript: ENSMUST00000218742
Predicted Effect probably benign
Transcript: ENSMUST00000219304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219294
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,302 (GRCm39) probably benign Het
Alk C T 17: 72,176,531 (GRCm39) G1591D probably damaging Het
Angptl2 T C 2: 33,118,327 (GRCm39) S34P probably benign Het
Atp2a2 A G 5: 122,627,354 (GRCm39) V137A probably benign Het
Atp8b5 A G 4: 43,366,770 (GRCm39) M845V probably damaging Het
Camk1d A G 2: 5,570,571 (GRCm39) V30A possibly damaging Het
Ceacam19 G A 7: 19,616,535 (GRCm39) T193I probably benign Het
Cfap298 A C 16: 90,722,950 (GRCm39) D261E probably benign Het
Chst15 T A 7: 131,868,475 (GRCm39) D315V probably damaging Het
Cux1 G T 5: 136,336,857 (GRCm39) P885Q probably damaging Het
Cyth1 C T 11: 118,076,307 (GRCm39) E88K possibly damaging Het
Dido1 A G 2: 180,325,751 (GRCm39) V479A probably benign Het
Dlc1 G T 8: 37,037,429 (GRCm39) probably benign Het
H2-Ab1 G A 17: 34,483,885 (GRCm39) R82Q probably damaging Het
Hps6 T A 19: 45,994,480 (GRCm39) *806K probably null Het
Ilf3 T C 9: 21,309,340 (GRCm39) S486P probably benign Het
Kdm1b C A 13: 47,233,943 (GRCm39) T759K probably damaging Het
Kirrel1 C A 3: 86,995,792 (GRCm39) V381F probably damaging Het
Kmt2b A T 7: 30,276,569 (GRCm39) V1701E probably damaging Het
Lrmda T C 14: 22,878,805 (GRCm39) Y100H probably damaging Het
Mastl T C 2: 23,035,421 (GRCm39) I169V probably damaging Het
Mroh2b A G 15: 4,991,630 (GRCm39) E1576G probably damaging Het
Nek3 A T 8: 22,650,384 (GRCm39) probably null Het
Nipal3 G T 4: 135,195,861 (GRCm39) Y247* probably null Het
Nt5e A C 9: 88,237,758 (GRCm39) K229N probably damaging Het
Opa1 A G 16: 29,429,705 (GRCm39) M290V probably null Het
Or2a14 A G 6: 43,130,511 (GRCm39) I91V possibly damaging Het
Or8d6 G T 9: 39,854,254 (GRCm39) G233C probably damaging Het
Parp2 T A 14: 51,052,872 (GRCm39) I155K probably benign Het
Pde4dip G T 3: 97,674,403 (GRCm39) A171E probably damaging Het
Prom2 C T 2: 127,373,036 (GRCm39) E678K probably benign Het
Rab12 A G 17: 66,805,111 (GRCm39) probably benign Het
Rgs8 A T 1: 153,546,545 (GRCm39) T13S probably damaging Het
Setd3 A G 12: 108,078,383 (GRCm39) probably benign Het
Shisal1 A G 15: 84,304,330 (GRCm39) probably benign Het
Slx4ip G A 2: 136,846,893 (GRCm39) V53I probably damaging Het
Stil A G 4: 114,881,295 (GRCm39) D613G probably benign Het
Tektip1 A G 10: 81,200,570 (GRCm39) probably benign Het
Tmem215 A G 4: 40,474,632 (GRCm39) *236W probably null Het
Ttbk1 A G 17: 46,781,586 (GRCm39) V389A probably benign Het
Wdfy4 A G 14: 32,693,707 (GRCm39) F2706S possibly damaging Het
Xpo4 C A 14: 57,866,877 (GRCm39) V222L possibly damaging Het
Zfc3h1 A G 10: 115,236,809 (GRCm39) S428G probably benign Het
Zfp286 T C 11: 62,678,786 (GRCm39) Q47R probably damaging Het
Zfp318 A G 17: 46,709,680 (GRCm39) K468E probably 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
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
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
Posted On 2015-12-18