Incidental Mutation 'R7471:Tjp1'
ID 579197
Institutional Source Beutler Lab
Gene Symbol Tjp1
Ensembl Gene ENSMUSG00000030516
Gene Name tight junction protein 1
Synonyms ZO1, ZO-1
MMRRC Submission 045545-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7471 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 64945913-65177529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64964438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 911 (D911G)
Ref Sequence ENSEMBL: ENSMUSP00000099652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032729] [ENSMUST00000102592] [ENSMUST00000206612]
AlphaFold P39447
PDB Structure Interplay between phosphatidyl-inositol-phosphates and claudins upon binding to the 1st PDZ domain of zonula occludens 1 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000032729
AA Change: D911G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: D911G

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: D911G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: D911G

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 possibly damaging
Transcript: ENSMUST00000206612
AA Change: D911G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (73/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,168,608 (GRCm39) probably null Het
Ace T C 11: 105,864,308 (GRCm39) V483A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Angptl2 A T 2: 33,133,751 (GRCm39) T358S possibly damaging Het
Apoh C T 11: 108,298,131 (GRCm39) P144S probably damaging Het
Arid1a A G 4: 133,408,355 (GRCm39) W1666R unknown Het
Asap3 A G 4: 135,960,957 (GRCm39) H223R possibly damaging Het
Bcl2l12 A G 7: 44,645,977 (GRCm39) S81P possibly damaging Het
Brd10 A C 19: 29,707,139 (GRCm39) probably null Het
C8a A G 4: 104,674,822 (GRCm39) S550P probably benign Het
Cacna2d1 C G 5: 16,139,973 (GRCm39) probably benign Het
Ccdc170 A G 10: 4,470,803 (GRCm39) T216A probably benign Het
Chd7 A T 4: 8,859,197 (GRCm39) K2429I probably damaging Het
Chd8 T C 14: 52,441,569 (GRCm39) N2181S probably benign Het
Cimap1c C T 9: 56,759,783 (GRCm39) probably null Het
Clip3 T C 7: 30,001,377 (GRCm39) V342A possibly damaging Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Cyp20a1 T C 1: 60,393,799 (GRCm39) F139S probably damaging Het
Dclre1b T A 3: 103,710,430 (GRCm39) R494W probably benign Het
Dicer1 A G 12: 104,660,969 (GRCm39) I1695T probably damaging Het
Dnah7a A G 1: 53,458,858 (GRCm39) L3760P probably damaging Het
Dock1 A G 7: 134,765,072 (GRCm39) D1688G possibly damaging Het
Drosha G A 15: 12,889,742 (GRCm39) R870Q probably damaging Het
Dsg2 G T 18: 20,713,675 (GRCm39) M215I probably benign Het
Dst A T 1: 34,233,651 (GRCm39) D3453V possibly damaging Het
Epha10 A T 4: 124,796,365 (GRCm39) Y358F Het
Ermp1 A T 19: 29,590,054 (GRCm39) M853K probably benign Het
Hace1 T G 10: 45,577,075 (GRCm39) I823S probably benign Het
Hectd3 A T 4: 116,853,785 (GRCm39) Y227F probably benign Het
Hells A G 19: 38,945,501 (GRCm39) N580S probably benign Het
Igkv12-44 A G 6: 69,791,718 (GRCm39) F82L probably damaging Het
Inpp5d A G 1: 87,623,122 (GRCm39) D405G probably damaging Het
Itsn2 G A 12: 4,758,198 (GRCm39) R1508H probably benign Het
Limk1 A T 5: 134,686,825 (GRCm39) probably null Het
Lingo1 T A 9: 56,528,167 (GRCm39) K147* probably null Het
Ltn1 T C 16: 87,194,787 (GRCm39) S1371G probably benign Het
Mab21l1 A G 3: 55,691,307 (GRCm39) D298G possibly damaging Het
Macf1 A T 4: 123,366,082 (GRCm39) V2893E probably benign Het
Mapk8ip1 T C 2: 92,219,489 (GRCm39) D114G probably benign Het
Med15 A T 16: 17,540,729 (GRCm39) W6R probably benign Het
Mrps34 T C 17: 25,114,431 (GRCm39) L97P probably damaging Het
Myrfl A T 10: 116,697,417 (GRCm39) F36I possibly damaging Het
Nifk G A 1: 118,260,204 (GRCm39) S253N probably damaging Het
Nmnat1 T A 4: 149,557,758 (GRCm39) T95S probably damaging Het
Oasl1 T A 5: 115,073,985 (GRCm39) I298N probably damaging Het
Or51a8 A G 7: 102,549,760 (GRCm39) Y62C probably benign Het
Or56b35 T G 7: 104,963,712 (GRCm39) L167R probably damaging Het
Or8g37 A T 9: 39,731,423 (GRCm39) M163L probably benign Het
Polr2b C T 5: 77,468,913 (GRCm39) R230* probably null Het
Prkra T A 2: 76,477,545 (GRCm39) E53D probably benign Het
Rasgrp4 T A 7: 28,845,405 (GRCm39) L376Q probably damaging Het
Rwdd3 A G 3: 120,964,961 (GRCm39) S65P probably benign Het
Satb1 G A 17: 52,090,029 (GRCm39) P273S probably damaging Het
Scg3 T C 9: 75,589,374 (GRCm39) E93G probably damaging Het
Sf3a1 T C 11: 4,117,724 (GRCm39) F162S possibly damaging Het
Sorcs1 A G 19: 50,250,701 (GRCm39) Y377H probably damaging Het
Sptbn4 G A 7: 27,108,439 (GRCm39) A661V possibly damaging Het
Stk36 A G 1: 74,673,479 (GRCm39) N996S unknown Het
Tbca A T 13: 94,968,923 (GRCm39) I37F probably damaging Het
Tc2n A T 12: 101,672,716 (GRCm39) V75E probably damaging Het
Tdrkh A T 3: 94,333,263 (GRCm39) S243C probably damaging Het
Tmbim6 A G 15: 99,299,324 (GRCm39) probably benign Het
Tob1 T A 11: 94,104,708 (GRCm39) D81E probably benign Het
Ttpal T A 2: 163,448,945 (GRCm39) probably null Het
Usp37 A T 1: 74,534,787 (GRCm39) probably null Het
Vmn1r235 A G 17: 21,482,658 (GRCm39) I328V probably benign Het
Vmn1r28 T A 6: 58,242,850 (GRCm39) L231* probably null Het
Xirp1 G A 9: 119,848,176 (GRCm39) Q236* probably null Het
Zc3h7b A G 15: 81,664,682 (GRCm39) T514A probably damaging Het
Zfp524 A G 7: 5,021,200 (GRCm39) I243V probably benign Het
Zfp655 T A 5: 145,181,542 (GRCm39) Y467N possibly damaging Het
Zfp985 A T 4: 147,667,388 (GRCm39) K85N possibly 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
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
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'- AAGCTCAGAATAAAGCCCTTGG -3'
(R):5'- ACACTTCTGACTATGAAGACACAG -3'

Sequencing Primer
(F):5'- CTCAGAATAAAGCCCTTGGTACTCTG -3'
(R):5'- GGGGCCTACACTGATCAAG -3'
Posted On 2019-10-07