Incidental Mutation 'R1163:Tjp1'
ID 100624
Institutional Source Beutler Lab
Gene Symbol Tjp1
Ensembl Gene ENSMUSG00000030516
Gene Name tight junction protein 1
Synonyms ZO1, ZO-1
MMRRC Submission 039236-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1163 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 64945913-65177529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64972802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 546 (V546E)
Ref Sequence ENSEMBL: ENSMUSP00000146149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032729] [ENSMUST00000102592] [ENSMUST00000206612]
AlphaFold P39447
Predicted Effect probably damaging
Transcript: ENSMUST00000032729
AA Change: V546E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: V546E

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 probably damaging
Transcript: ENSMUST00000102592
AA Change: V546E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: V546E

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 probably damaging
Transcript: ENSMUST00000206612
AA Change: V546E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T A 10: 86,957,284 (GRCm39) Y7N probably damaging Het
4930579F01Rik T G 3: 137,882,271 (GRCm39) D18A probably damaging Het
Abca8a T C 11: 109,962,356 (GRCm39) D499G probably benign Het
Adamts1 G C 16: 85,599,525 (GRCm39) A25G probably benign Het
Adamts2 A T 11: 50,670,541 (GRCm39) I552F probably damaging Het
Akap3 A G 6: 126,841,750 (GRCm39) D123G probably damaging Het
Ankar C T 1: 72,727,864 (GRCm39) V350I possibly damaging Het
Apob A G 12: 8,061,654 (GRCm39) T3379A probably damaging Het
Ash1l G T 3: 88,942,570 (GRCm39) probably null Het
Atp2b1 T C 10: 98,815,713 (GRCm39) I119T possibly damaging Het
B3gnt2 A T 11: 22,786,558 (GRCm39) M210K probably benign Het
Bcl11a A G 11: 24,115,143 (GRCm39) N829D probably benign Het
Btnl4 T C 17: 34,689,049 (GRCm39) E337G possibly damaging Het
Casr A T 16: 36,315,169 (GRCm39) V967D probably damaging Het
Cd200 A T 16: 45,212,715 (GRCm39) V244D probably damaging Het
Cd200r4 A G 16: 44,658,383 (GRCm39) N256D probably benign Het
Cep68 A G 11: 20,190,539 (GRCm39) S158P probably damaging Het
Chst10 A T 1: 38,910,783 (GRCm39) V123D probably damaging Het
Cobll1 T C 2: 64,928,623 (GRCm39) H938R probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dmkn T G 7: 30,464,476 (GRCm39) C205G probably damaging Het
Dock8 A G 19: 25,028,867 (GRCm39) I24V probably benign Het
Dpp3 C T 19: 4,964,951 (GRCm39) W488* probably null Het
Dpp9 C A 17: 56,506,426 (GRCm39) A365S possibly damaging Het
Egfr A T 11: 16,833,546 (GRCm39) T605S probably benign Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Fam83g T C 11: 61,594,262 (GRCm39) S599P probably damaging Het
Fscn1 G T 5: 142,946,598 (GRCm39) W132L probably damaging Het
Gbp2b A G 3: 142,304,857 (GRCm39) T98A probably damaging Het
Gm4922 C T 10: 18,659,469 (GRCm39) A418T possibly damaging Het
Golgb1 G T 16: 36,736,488 (GRCm39) V1912L possibly damaging Het
Gon4l T C 3: 88,799,842 (GRCm39) L829P probably damaging Het
Grm3 T A 5: 9,620,738 (GRCm39) I169L probably benign Het
Gsdma2 A G 11: 98,541,684 (GRCm39) D137G probably damaging Het
Hhip T C 8: 80,719,105 (GRCm39) Y474C probably damaging Het
Hsph1 A T 5: 149,554,266 (GRCm39) V163E probably damaging Het
Ifi203 T C 1: 173,751,703 (GRCm39) K373E probably damaging Het
Itsn2 A G 12: 4,762,009 (GRCm39) T1540A probably benign Het
Kdm1b T C 13: 47,225,398 (GRCm39) V527A probably benign Het
Kdm5d G A Y: 898,029 (GRCm39) A22T probably benign Het
Khdrbs1 A T 4: 129,619,379 (GRCm39) F254Y possibly damaging Het
Kif26a T C 12: 112,146,379 (GRCm39) F1822L probably benign Het
Krt1 C A 15: 101,756,600 (GRCm39) E308* probably null Het
Lrrc47 T A 4: 154,096,274 (GRCm39) M1K probably null Het
Mrgpra4 A T 7: 47,631,224 (GRCm39) W126R probably damaging Het
Nlrp4e G A 7: 23,020,397 (GRCm39) V295I probably benign Het
Or1l4b A T 2: 37,037,039 (GRCm39) T272S probably damaging Het
Or2f1 G A 6: 42,721,057 (GRCm39) V29I probably benign Het
Or4c10 G T 2: 89,760,449 (GRCm39) V99F possibly damaging Het
Or5ac19 A G 16: 59,089,518 (GRCm39) S171P probably benign Het
Or5ac24 A T 16: 59,165,425 (GRCm39) I213N probably damaging Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Or6c66 A G 10: 129,461,516 (GRCm39) V138A possibly damaging Het
Or8h10 A G 2: 86,809,020 (GRCm39) L40P probably damaging Het
Or8k41 A T 2: 86,313,582 (GRCm39) F168Y probably damaging Het
Plec G T 15: 76,068,038 (GRCm39) N1190K possibly damaging Het
Plin1 T C 7: 79,379,719 (GRCm39) T44A probably damaging Het
Pou3f2 TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 4: 22,487,697 (GRCm39) probably benign Het
Pramel22 A G 4: 143,383,204 (GRCm39) L5P probably damaging Het
Psg27 A G 7: 18,299,234 (GRCm39) L29P probably damaging Het
Psmd13 C A 7: 140,477,367 (GRCm39) T292N probably damaging Het
Rab1b A T 19: 5,154,684 (GRCm39) Y88* probably null Het
Reln T A 5: 22,104,027 (GRCm39) I3315L probably benign Het
Rmdn2 A T 17: 79,966,880 (GRCm39) M257L probably benign Het
Rnd1 A T 15: 98,574,435 (GRCm39) F47L probably damaging Het
Rnf41 G A 10: 128,274,076 (GRCm39) V243I probably benign Het
Rnf43 C G 11: 87,620,339 (GRCm39) S226R probably damaging Het
Scn5a A T 9: 119,362,993 (GRCm39) D542E probably damaging Het
Sema5b A T 16: 35,448,466 (GRCm39) I81F probably benign Het
Serinc5 G A 13: 92,819,285 (GRCm39) C73Y probably damaging Het
Serpina3g A T 12: 104,205,551 (GRCm39) N97Y possibly damaging Het
Shq1 A G 6: 100,614,033 (GRCm39) S262P probably damaging Het
Smad4 A T 18: 73,781,978 (GRCm39) I428N probably damaging Het
Snip1 G T 4: 124,966,613 (GRCm39) G348W probably damaging Het
Spg11 A G 2: 121,901,422 (GRCm39) L1506P probably damaging Het
Stard9 G A 2: 120,526,694 (GRCm39) V984I possibly damaging Het
Svopl A T 6: 38,006,635 (GRCm39) F121I possibly damaging Het
Tmem116 T A 5: 121,631,819 (GRCm39) F110L probably damaging Het
Ttyh2 C T 11: 114,601,714 (GRCm39) T446M probably benign Het
Tubb1 A T 2: 174,299,532 (GRCm39) I405L probably benign Het
Uba5 A T 9: 103,933,025 (GRCm39) F155L possibly damaging Het
Ubd C T 17: 37,506,212 (GRCm39) H33Y probably damaging Het
Ube3d A T 9: 86,322,648 (GRCm39) D175E probably benign Het
Usp24 A G 4: 106,278,157 (GRCm39) Q2293R probably benign Het
Vmn1r175 T A 7: 23,507,937 (GRCm39) H230L probably benign Het
Vmn1r88 A G 7: 12,912,060 (GRCm39) I139V probably benign Het
Vmn2r1 T C 3: 63,994,046 (GRCm39) F131L probably benign Het
Yipf3 T C 17: 46,562,155 (GRCm39) probably null Het
Zdhhc19 A G 16: 32,325,258 (GRCm39) K192R probably benign Het
Zfy1 G A Y: 725,611 (GRCm39) T718I probably damaging 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
IGL01607:Tjp1 APN 7 64,985,926 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers
Posted On 2014-01-15