Incidental Mutation 'R6491:Tjp1'
ID 522877
Institutional Source Beutler Lab
Gene Symbol Tjp1
Ensembl Gene ENSMUSG00000030516
Gene Name tight junction protein 1
Synonyms ZO1, ZO-1
MMRRC Submission 044623-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6491 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 64945913-65177529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64986865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 207 (F207I)
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: F207I

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: F207I

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 benign
Transcript: ENSMUST00000102592
AA Change: F207I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: F207I

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 probably benign
Transcript: ENSMUST00000206612
AA Change: F207I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.5939 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,612,508 (GRCm39) L431P probably damaging Het
Acad10 A C 5: 121,768,220 (GRCm39) W779G probably damaging Het
Acrbp A G 6: 125,028,442 (GRCm39) probably benign Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
Ap2a1 A T 7: 44,565,588 (GRCm39) I93K probably damaging Het
Arnt T A 3: 95,383,454 (GRCm39) M240K probably damaging Het
Ceacam12 A T 7: 17,803,185 (GRCm39) K197M probably damaging Het
Cep41 T C 6: 30,656,483 (GRCm39) N323S probably benign Het
Dst A G 1: 34,232,093 (GRCm39) T2904A probably benign Het
Eml1 G A 12: 108,479,330 (GRCm39) probably null Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Irf2bpl A G 12: 86,930,238 (GRCm39) V145A probably benign Het
Itga2b T C 11: 102,350,695 (GRCm39) probably null Het
Itga8 T C 2: 12,209,587 (GRCm39) D466G probably damaging Het
Kdm4c G T 4: 74,291,873 (GRCm39) C830F probably damaging Het
Mrps27 T C 13: 99,499,538 (GRCm39) S73P probably damaging Het
Mtdh T G 15: 34,116,473 (GRCm39) N17K probably damaging Het
Muc3a A G 5: 137,246,591 (GRCm39) S9P probably benign Het
Or8b46 A G 9: 38,558,751 (GRCm39) L23P probably damaging Het
Oxgr1 T A 14: 120,259,419 (GRCm39) I263F probably benign Het
Phc1 A G 6: 122,311,923 (GRCm39) Het
Ppp2r5d A G 17: 46,996,509 (GRCm39) F388S probably damaging Het
Pxmp4 A G 2: 154,434,083 (GRCm39) probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror1 A G 4: 100,267,109 (GRCm39) N270S possibly damaging Het
Slc7a14 T C 3: 31,278,093 (GRCm39) Y504C probably damaging Het
Snx9 A G 17: 5,970,437 (GRCm39) D391G probably benign Het
St18 T A 1: 6,898,209 (GRCm39) Y670* probably null Het
Trappc3 A G 4: 126,169,022 (GRCm39) I171V probably benign Het
Ugt2b5 A T 5: 87,273,328 (GRCm39) L446* probably null Het
Vmn2r105 A T 17: 20,447,992 (GRCm39) Y277* probably null Het
Vmn2r11 A T 5: 109,196,800 (GRCm39) N557K possibly damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp938 A G 10: 82,063,363 (GRCm39) *65Q probably null 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
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
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 PCR Primer
(F):5'- TGATGATTCTCCACAGCAAAAC -3'
(R):5'- GGCCTTCTCCTTTTCAATAAGATGG -3'

Sequencing Primer
(F):5'- TGATTCTCCACAGCAAAACCACTTC -3'
(R):5'- ATTTTGCTTTTTCTTGACTGCATAC -3'
Posted On 2018-06-06