Incidental Mutation 'R0012:Tjp1'
ID 32561
Institutional Source Beutler Lab
Gene Symbol Tjp1
Ensembl Gene ENSMUSG00000030516
Gene Name tight junction protein 1
Synonyms ZO1, ZO-1
MMRRC Submission 038307-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0012 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 64945913-65177529 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 64979523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032729] [ENSMUST00000102592] [ENSMUST00000206612]
AlphaFold P39447
Predicted Effect probably benign
Transcript: ENSMUST00000032729
SMART Domains Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516

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
SMART Domains Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516

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 benign
Transcript: ENSMUST00000206612
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.7%
Validation Efficiency 98% (81/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam33 A T 2: 130,894,840 (GRCm39) L687Q probably damaging Het
Adap1 A G 5: 139,293,489 (GRCm39) probably benign Het
Add2 T A 6: 86,075,610 (GRCm39) V253E probably damaging Het
Agtr1a A T 13: 30,565,732 (GRCm39) I266F probably damaging Het
Anxa9 A G 3: 95,215,406 (GRCm39) probably benign Het
Arap2 G A 5: 62,840,827 (GRCm39) L680F probably damaging Het
Bnip3 A G 7: 138,500,401 (GRCm39) probably benign Het
Brwd1 A C 16: 95,860,852 (GRCm39) S311R probably damaging Het
C2cd3 G A 7: 100,067,729 (GRCm39) V871M possibly damaging Het
Cacul1 A G 19: 60,552,691 (GRCm39) W145R probably damaging Het
Celf5 C A 10: 81,305,346 (GRCm39) V141L probably damaging Het
Cfap206 C A 4: 34,714,519 (GRCm39) L392F possibly damaging Het
Chd2 G T 7: 73,105,267 (GRCm39) T192K probably damaging Het
Chrna10 T C 7: 101,764,264 (GRCm39) N40S possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Clspn T A 4: 126,458,722 (GRCm39) probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col5a3 A T 9: 20,688,404 (GRCm39) probably benign Het
Copb1 T A 7: 113,836,643 (GRCm39) K366N probably damaging Het
Cul9 G A 17: 46,849,436 (GRCm39) R570C probably benign Het
Cyp2c70 A T 19: 40,175,687 (GRCm39) L7Q probably null Het
Dock2 T C 11: 34,674,622 (GRCm39) E10G possibly damaging Het
Dpysl4 T G 7: 138,677,799 (GRCm39) I412S probably benign Het
Eaf2 T A 16: 36,628,536 (GRCm39) probably benign Het
Fasl T C 1: 161,615,733 (GRCm39) D41G probably benign Het
Fat2 A G 11: 55,153,697 (GRCm39) V3505A probably benign Het
Fbxo24 A G 5: 137,620,256 (GRCm39) F101S probably damaging Het
Fdft1 T C 14: 63,415,147 (GRCm39) I28M probably benign Het
Gcnt3 T C 9: 69,941,367 (GRCm39) I400M probably benign Het
Get3 T C 8: 85,751,725 (GRCm39) probably benign Het
Gpd2 T A 2: 57,228,880 (GRCm39) M228K probably damaging Het
Gsap T A 5: 21,431,227 (GRCm39) probably benign Het
Hipk1 A G 3: 103,670,996 (GRCm39) M467T probably damaging Het
Hmgb4 T A 4: 128,154,518 (GRCm39) I17F probably damaging Het
Ints10 C A 8: 69,260,127 (GRCm39) L284M probably benign Het
Kif17 T G 4: 138,021,059 (GRCm39) S606A probably damaging Het
Lifr C A 15: 7,205,089 (GRCm39) T442K possibly damaging Het
Lypd4 A G 7: 24,564,757 (GRCm39) L127P probably damaging Het
Lyst A G 13: 13,862,279 (GRCm39) H2605R probably benign Het
Map3k4 A G 17: 12,457,076 (GRCm39) S1289P probably damaging Het
Mgam T A 6: 40,742,190 (GRCm39) probably null Het
Mob1b G A 5: 88,903,943 (GRCm39) probably benign Het
Mrgpra1 A G 7: 46,985,218 (GRCm39) S154P probably damaging Het
Ms4a4c C A 19: 11,396,344 (GRCm39) probably benign Het
Mthfd2l A T 5: 91,109,242 (GRCm39) H224L probably damaging Het
Myh8 T C 11: 67,190,847 (GRCm39) Y1350H probably benign Het
Nectin2 T C 7: 19,464,669 (GRCm39) probably benign Het
Nos1 A C 5: 118,031,967 (GRCm39) N305T probably damaging Het
Ogfrl1 T A 1: 23,409,206 (GRCm39) Q340L possibly damaging Het
Or2aj5 T C 16: 19,425,190 (GRCm39) N76S probably benign Het
Or4f62 A T 2: 111,987,171 (GRCm39) N292Y possibly damaging Het
Or6k14 T G 1: 173,927,773 (GRCm39) F250V probably damaging Het
Or9i1 C A 19: 13,839,187 (GRCm39) T10K probably damaging Het
Orc1 T C 4: 108,452,843 (GRCm39) probably null Het
Plekhg5 C A 4: 152,189,207 (GRCm39) D249E probably benign Het
Plet1 A G 9: 50,410,430 (GRCm39) I74V probably benign Het
Psmd2 T A 16: 20,480,434 (GRCm39) D718E probably damaging Het
Rab33b G T 3: 51,391,737 (GRCm39) probably benign Het
Rae1 T A 2: 172,844,466 (GRCm39) F4I unknown Het
Ralgapa2 A G 2: 146,254,672 (GRCm39) Y821H probably benign Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Sharpin G T 15: 76,232,543 (GRCm39) P156T possibly damaging Het
Slc38a4 C T 15: 96,897,510 (GRCm39) R435H probably damaging Het
Snrnp200 T C 2: 127,070,469 (GRCm39) V1061A probably benign Het
Suclg1 A G 6: 73,247,980 (GRCm39) T234A possibly damaging Het
Swsap1 T C 9: 21,868,318 (GRCm39) C197R probably benign Het
Tbx15 A G 3: 99,259,412 (GRCm39) T428A probably benign Het
Tet2 T C 3: 133,182,319 (GRCm39) Y1215C probably damaging Het
Tmem209 G T 6: 30,502,112 (GRCm39) probably benign Het
Tnpo3 T C 6: 29,589,176 (GRCm39) E58G probably damaging Het
Trp53bp2 T A 1: 182,272,283 (GRCm39) M464K probably damaging Het
Ttc32 A G 12: 9,085,897 (GRCm39) Y148C possibly damaging Het
Unc80 T C 1: 66,546,550 (GRCm39) S541P probably damaging Het
Ushbp1 T C 8: 71,847,684 (GRCm39) probably benign Het
Vmn2r100 A G 17: 19,725,136 (GRCm39) M22V probably benign Het
Vmn2r100 A T 17: 19,746,296 (GRCm39) E485V probably damaging Het
Wdr24 G A 17: 26,046,087 (GRCm39) V471I probably benign Het
Zfp35 T A 18: 24,136,001 (GRCm39) M115K probably benign Het
Zfp429 G A 13: 67,538,796 (GRCm39) S216L probably benign Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A 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
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
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
Predicted Primers PCR Primer
(F):5'- GCAAAGGCTCTTTGGCTCTGCTTAC -3'
(R):5'- GATGACTCCACAAACCTGTCCTCTG -3'

Sequencing Primer
(F):5'- CTCTGCTTACCTGGAAGAGTG -3'
(R):5'- TAAACATGTCTGGGAGCCTAC -3'
Posted On 2013-05-09