Incidental Mutation 'IGL01607:Tjp1'
ID 92300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tjp1
Ensembl Gene ENSMUSG00000030516
Gene Name tight junction protein 1
Synonyms ZO1, ZO-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01607
Quality Score
Status
Chromosome 7
Chromosomal Location 64945913-65177529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 64985926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 288 (D288E)
Ref Sequence ENSEMBL: ENSMUSP00000032729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032729] [ENSMUST00000102592] [ENSMUST00000206612]
AlphaFold P39447
Predicted Effect possibly damaging
Transcript: ENSMUST00000032729
AA Change: D288E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: D288E

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
PDZ 32 110 1.65e-15 SMART
PDZ 196 264 3.92e-17 SMART
low complexity region 302 324 N/A INTRINSIC
PDZ 431 504 5.94e-17 SMART
SH3 519 583 6.41e-2 SMART
GuKc 606 794 1.28e-49 SMART
low complexity region 810 824 N/A INTRINSIC
low complexity region 893 906 N/A INTRINSIC
low complexity region 1157 1176 N/A INTRINSIC
low complexity region 1246 1257 N/A INTRINSIC
low complexity region 1308 1319 N/A INTRINSIC
low complexity region 1339 1365 N/A INTRINSIC
low complexity region 1389 1400 N/A INTRINSIC
ZU5 1549 1654 1.1e-56 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102592
AA Change: D288E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: D288E

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
PDZ 32 110 1.65e-15 SMART
PDZ 196 264 3.92e-17 SMART
low complexity region 302 324 N/A INTRINSIC
PDZ 431 504 5.94e-17 SMART
SH3 519 583 6.41e-2 SMART
GuKc 606 794 1.28e-49 SMART
low complexity region 810 824 N/A INTRINSIC
low complexity region 893 906 N/A INTRINSIC
low complexity region 939 955 N/A INTRINSIC
low complexity region 1237 1256 N/A INTRINSIC
low complexity region 1326 1337 N/A INTRINSIC
low complexity region 1388 1399 N/A INTRINSIC
low complexity region 1419 1445 N/A INTRINSIC
low complexity region 1469 1480 N/A INTRINSIC
ZU5 1629 1735 1.84e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144961
Predicted Effect possibly damaging
Transcript: ENSMUST00000206612
AA Change: D288E

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele show embryonic lethality and growth retardation, failure of embryo turning and chorioallantoic fusion, defective yolk sac angiogenesis, and increased apoptosis in the notochord, neural tube, somite and allantois. Homozygotes for a reporter allele are overtly normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,243,823 (GRCm39) K556E possibly damaging Het
Adgre4 A C 17: 56,101,748 (GRCm39) probably benign Het
Ajap1 C T 4: 153,516,736 (GRCm39) G202S probably damaging Het
Catsperb G T 12: 101,446,985 (GRCm39) probably benign Het
Ccdc178 T A 18: 22,200,778 (GRCm39) D393V probably benign Het
Cfap74 A G 4: 155,503,443 (GRCm39) T95A possibly damaging Het
Dis3l2 A G 1: 86,673,209 (GRCm39) T67A probably benign Het
Dnaja3 T C 16: 4,511,259 (GRCm39) F205L probably damaging Het
Dsc1 C T 18: 20,222,720 (GRCm39) C584Y probably damaging Het
Duox2 C A 2: 122,122,800 (GRCm39) V545L probably benign Het
Etaa1 A G 11: 17,903,637 (GRCm39) L53P probably benign Het
Gm14184 C T 11: 99,590,490 (GRCm39) C4Y unknown Het
Inpp4b C T 8: 82,737,292 (GRCm39) A563V probably benign Het
Kcnc3 A G 7: 44,240,728 (GRCm39) D140G probably damaging Het
Ly6a A T 15: 74,867,262 (GRCm39) M85K probably benign Het
Map4k2 C T 19: 6,395,623 (GRCm39) probably null Het
Mttp T C 3: 137,810,459 (GRCm39) Y652C probably damaging Het
Neu1 A T 17: 35,153,692 (GRCm39) N372I probably benign Het
Nuak2 G A 1: 132,255,878 (GRCm39) V184I probably damaging Het
Phf11a T C 14: 59,524,950 (GRCm39) I85V probably damaging Het
Polr2e C A 10: 79,875,467 (GRCm39) D3Y probably damaging Het
Ralb A G 1: 119,411,279 (GRCm39) V20A probably damaging Het
Rln1 A T 19: 29,309,260 (GRCm39) V173D probably benign Het
Stk38l T A 6: 146,673,152 (GRCm39) C304S probably damaging Het
Stk38l T C 6: 146,673,725 (GRCm39) probably benign Het
Trpm3 A G 19: 22,964,491 (GRCm39) I1319V probably benign Het
Zic2 T G 14: 122,716,294 (GRCm39) probably benign Het
Other mutations in Tjp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Tjp1 APN 7 64,950,967 (GRCm39) missense probably benign
IGL00848:Tjp1 APN 7 64,952,942 (GRCm39) missense probably benign 0.00
IGL01363:Tjp1 APN 7 64,952,713 (GRCm39) missense possibly damaging 0.94
IGL01526:Tjp1 APN 7 64,972,406 (GRCm39) missense probably damaging 1.00
IGL02223:Tjp1 APN 7 64,972,349 (GRCm39) missense probably damaging 1.00
IGL02341:Tjp1 APN 7 64,962,382 (GRCm39) missense probably damaging 1.00
IGL02347:Tjp1 APN 7 64,950,812 (GRCm39) critical splice donor site probably null
IGL02452:Tjp1 APN 7 64,962,403 (GRCm39) missense probably damaging 1.00
IGL02512:Tjp1 APN 7 64,993,415 (GRCm39) missense probably damaging 1.00
IGL02552:Tjp1 APN 7 64,949,530 (GRCm39) nonsense probably null
IGL02707:Tjp1 APN 7 64,979,430 (GRCm39) missense possibly damaging 0.85
IGL02707:Tjp1 APN 7 64,979,431 (GRCm39) nonsense probably null
IGL02939:Tjp1 APN 7 64,964,638 (GRCm39) missense probably damaging 1.00
IGL03139:Tjp1 APN 7 64,990,182 (GRCm39) splice site probably benign
IGL03273:Tjp1 APN 7 64,949,547 (GRCm39) missense probably damaging 1.00
IGL03391:Tjp1 APN 7 64,964,717 (GRCm39) missense probably damaging 1.00
PIT4453001:Tjp1 UTSW 7 64,993,362 (GRCm39) critical splice donor site probably null
R0012:Tjp1 UTSW 7 64,979,523 (GRCm39) splice site probably benign
R0012:Tjp1 UTSW 7 64,979,523 (GRCm39) splice site probably benign
R0390:Tjp1 UTSW 7 64,964,738 (GRCm39) missense probably damaging 1.00
R0519:Tjp1 UTSW 7 64,952,669 (GRCm39) missense probably benign
R0653:Tjp1 UTSW 7 64,964,503 (GRCm39) missense probably damaging 1.00
R1163:Tjp1 UTSW 7 64,972,802 (GRCm39) missense probably damaging 1.00
R1544:Tjp1 UTSW 7 64,952,669 (GRCm39) missense probably benign
R1634:Tjp1 UTSW 7 64,952,700 (GRCm39) missense possibly damaging 0.94
R1767:Tjp1 UTSW 7 64,962,301 (GRCm39) critical splice donor site probably null
R1771:Tjp1 UTSW 7 64,962,753 (GRCm39) missense probably benign 0.45
R1794:Tjp1 UTSW 7 64,972,877 (GRCm39) missense probably damaging 1.00
R1874:Tjp1 UTSW 7 64,969,001 (GRCm39) missense probably damaging 1.00
R1971:Tjp1 UTSW 7 64,973,826 (GRCm39) missense probably damaging 1.00
R1981:Tjp1 UTSW 7 64,962,603 (GRCm39) missense probably damaging 0.99
R2086:Tjp1 UTSW 7 64,962,669 (GRCm39) missense probably damaging 1.00
R2310:Tjp1 UTSW 7 64,979,490 (GRCm39) missense possibly damaging 0.90
R2942:Tjp1 UTSW 7 64,967,754 (GRCm39) missense probably damaging 1.00
R3974:Tjp1 UTSW 7 64,947,387 (GRCm39) nonsense probably null
R4295:Tjp1 UTSW 7 64,972,898 (GRCm39) missense probably damaging 1.00
R4296:Tjp1 UTSW 7 64,968,237 (GRCm39) missense probably damaging 1.00
R4567:Tjp1 UTSW 7 64,956,249 (GRCm39) missense probably damaging 1.00
R4574:Tjp1 UTSW 7 64,972,353 (GRCm39) missense probably damaging 1.00
R4910:Tjp1 UTSW 7 64,993,475 (GRCm39) missense probably damaging 1.00
R4958:Tjp1 UTSW 7 64,985,850 (GRCm39) nonsense probably null
R5267:Tjp1 UTSW 7 64,972,797 (GRCm39) missense probably damaging 1.00
R5371:Tjp1 UTSW 7 64,963,059 (GRCm39) nonsense probably null
R5422:Tjp1 UTSW 7 64,952,715 (GRCm39) missense probably damaging 0.99
R5514:Tjp1 UTSW 7 65,004,609 (GRCm39) missense probably damaging 1.00
R5652:Tjp1 UTSW 7 64,962,191 (GRCm39) splice site probably null
R5693:Tjp1 UTSW 7 64,992,411 (GRCm39) missense possibly damaging 0.96
R5933:Tjp1 UTSW 7 64,952,600 (GRCm39) missense probably benign 0.29
R6043:Tjp1 UTSW 7 64,973,837 (GRCm39) missense probably damaging 1.00
R6416:Tjp1 UTSW 7 64,962,953 (GRCm39) missense possibly damaging 0.76
R6491:Tjp1 UTSW 7 64,986,865 (GRCm39) missense possibly damaging 0.62
R6525:Tjp1 UTSW 7 64,993,399 (GRCm39) missense probably damaging 1.00
R6658:Tjp1 UTSW 7 64,950,825 (GRCm39) missense possibly damaging 0.82
R6917:Tjp1 UTSW 7 64,949,436 (GRCm39) missense probably damaging 0.99
R6960:Tjp1 UTSW 7 64,952,763 (GRCm39) missense possibly damaging 0.59
R7235:Tjp1 UTSW 7 64,968,321 (GRCm39) missense probably benign 0.16
R7274:Tjp1 UTSW 7 65,177,400 (GRCm39) missense possibly damaging 0.86
R7471:Tjp1 UTSW 7 64,964,438 (GRCm39) missense probably damaging 0.99
R7475:Tjp1 UTSW 7 64,972,087 (GRCm39) missense probably damaging 1.00
R7479:Tjp1 UTSW 7 64,950,928 (GRCm39) missense probably damaging 0.98
R8035:Tjp1 UTSW 7 64,992,450 (GRCm39) missense probably benign 0.34
R8195:Tjp1 UTSW 7 64,993,470 (GRCm39) missense probably damaging 1.00
R8276:Tjp1 UTSW 7 64,993,544 (GRCm39) intron probably benign
R8817:Tjp1 UTSW 7 64,952,810 (GRCm39) missense probably benign 0.41
R8869:Tjp1 UTSW 7 64,986,386 (GRCm39) missense probably damaging 1.00
R9043:Tjp1 UTSW 7 64,962,679 (GRCm39) missense probably benign 0.03
R9079:Tjp1 UTSW 7 64,950,966 (GRCm39) missense possibly damaging 0.77
R9081:Tjp1 UTSW 7 64,964,010 (GRCm39) missense possibly damaging 0.71
R9095:Tjp1 UTSW 7 64,952,745 (GRCm39) missense possibly damaging 0.82
R9145:Tjp1 UTSW 7 64,952,564 (GRCm39) missense probably benign 0.00
R9215:Tjp1 UTSW 7 64,962,595 (GRCm39) missense probably benign
R9581:Tjp1 UTSW 7 64,949,472 (GRCm39) missense probably damaging 1.00
R9665:Tjp1 UTSW 7 64,962,644 (GRCm39) missense probably benign
R9738:Tjp1 UTSW 7 64,986,380 (GRCm39) missense probably benign 0.00
X0022:Tjp1 UTSW 7 64,952,589 (GRCm39) missense possibly damaging 0.75
X0027:Tjp1 UTSW 7 64,964,507 (GRCm39) missense probably benign 0.18
Z1177:Tjp1 UTSW 7 64,993,480 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09