Incidental Mutation 'R6416:Tjp1'
ID 517929
Institutional Source Beutler Lab
Gene Symbol Tjp1
Ensembl Gene ENSMUSG00000030516
Gene Name tight junction protein 1
Synonyms ZO1, ZO-1
MMRRC Submission 044558-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6416 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 65296165-65527781 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65313205 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 995 (D995N)
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: D995N

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: D995N

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: D1075N

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: D1075N

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: D995N

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.4%
  • 20x: 94.6%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik C A 16: 88,707,891 (GRCm38) R6L unknown Het
Anxa11 A G 14: 25,874,270 (GRCm38) Q235R possibly damaging Het
Ap2b1 T A 11: 83,308,239 (GRCm38) M1K probably null Het
Atl2 G A 17: 79,850,223 (GRCm38) T563I probably benign Het
Azin1 A T 15: 38,492,343 (GRCm38) S307R possibly damaging Het
Ccdc153 A G 9: 44,245,780 (GRCm38) T118A probably benign Het
Chac1 G A 2: 119,353,534 (GRCm38) V206I probably damaging Het
Chrm3 A G 13: 9,877,662 (GRCm38) V446A probably benign Het
Cped1 T C 6: 22,123,649 (GRCm38) F467S probably damaging Het
Csmd3 G A 15: 48,673,560 (GRCm38) P82L probably damaging Het
Ddx60 C T 8: 61,998,681 (GRCm38) H1202Y probably benign Het
Ddx60 T A 8: 61,977,950 (GRCm38) S840T probably benign Het
Dnah8 T A 17: 30,765,635 (GRCm38) N3102K probably benign Het
Dst A T 1: 34,116,128 (GRCm38) K85M probably damaging Het
Ehbp1l1 T C 19: 5,718,757 (GRCm38) I839M probably benign Het
Fam184b T A 5: 45,537,653 (GRCm38) M750L probably benign Het
Frem2 T C 3: 53,572,378 (GRCm38) T1965A probably benign Het
Ftl1 A T 7: 45,459,210 (GRCm38) D41E probably benign Het
Garem2 G A 5: 30,116,737 (GRCm38) W698* probably null Het
Glt8d2 T C 10: 82,652,906 (GRCm38) Y283C probably damaging Het
Hars T C 18: 36,773,590 (GRCm38) E109G possibly damaging Het
Hspb9 T C 11: 100,714,210 (GRCm38) S121P probably damaging Het
Hus1b A T 13: 30,947,205 (GRCm38) L157Q probably damaging Het
Hykk A G 9: 54,946,359 (GRCm38) M322V probably benign Het
Igkv4-61 C A 6: 69,417,154 (GRCm38) A31S possibly damaging Het
Il17f T A 1: 20,777,907 (GRCm38) M116L probably benign Het
Kif22 T C 7: 127,028,932 (GRCm38) K9E possibly damaging Het
Krt90 T C 15: 101,559,244 (GRCm38) E233G probably benign Het
Lipg T C 18: 74,957,236 (GRCm38) M81V probably benign Het
Mocos C T 18: 24,701,456 (GRCm38) S850L probably damaging Het
Mug2 T A 6: 122,082,754 (GRCm38) S1364T probably damaging Het
Neb A T 2: 52,185,328 (GRCm38) N208K probably benign Het
Oca2 G T 7: 56,328,767 (GRCm38) R561L probably benign Het
Olfm5 A G 7: 104,154,053 (GRCm38) L401P probably damaging Het
Olfr109 T A 17: 37,467,080 (GRCm38) Y291* probably null Het
Olfr1238 C A 2: 89,406,522 (GRCm38) A186S possibly damaging Het
Olfr331 T C 11: 58,502,340 (GRCm38) D72G probably damaging Het
Olfr828 G A 9: 18,815,892 (GRCm38) T134M probably benign Het
Olfr952 T A 9: 39,426,891 (GRCm38) Y60F probably damaging Het
Oxgr1 T C 14: 120,022,448 (GRCm38) N116D probably damaging Het
Pcdha11 G T 18: 37,012,169 (GRCm38) probably null Het
Pi4ka T C 16: 17,358,322 (GRCm38) I418V probably benign Het
Pih1d2 T C 9: 50,618,609 (GRCm38) V62A probably benign Het
Pkib T A 10: 57,728,138 (GRCm38) V46E probably damaging Het
Pum1 A G 4: 130,728,287 (GRCm38) probably null Het
Rbak G T 5: 143,176,552 (GRCm38) Q19K possibly damaging Het
Sema3c A G 5: 17,576,961 (GRCm38) T32A probably damaging Het
Shprh T C 10: 11,167,873 (GRCm38) W835R probably damaging Het
Sis T G 3: 72,911,854 (GRCm38) K1456N probably damaging Het
Slc4a4 A T 5: 89,179,729 (GRCm38) N675I probably benign Het
Slc8a3 C A 12: 81,315,627 (GRCm38) M139I probably damaging Het
Sorcs3 T C 19: 48,802,759 (GRCm38) F1182S probably damaging Het
St8sia2 A T 7: 73,971,921 (GRCm38) I96N probably damaging Het
Stx19 T C 16: 62,822,057 (GRCm38) S79P probably damaging Het
Tecta C T 9: 42,375,267 (GRCm38) V698M probably damaging Het
Timm22 T C 11: 76,411,139 (GRCm38) S150P probably damaging Het
Tmem135 T A 7: 89,147,794 (GRCm38) T365S probably benign Het
Tmem174 T C 13: 98,636,981 (GRCm38) T114A probably benign Het
Tnc A G 4: 64,007,816 (GRCm38) I909T probably benign Het
Trcg1 A G 9: 57,241,330 (GRCm38) I62V possibly damaging Het
Tulp1 A T 17: 28,356,031 (GRCm38) *487K probably null Het
Unc79 T A 12: 103,131,646 (GRCm38) V1826E possibly damaging Het
Vmn2r13 A T 5: 109,174,116 (GRCm38) N238K probably damaging Het
Vmn2r22 T A 6: 123,637,738 (GRCm38) N298Y probably damaging Het
Vmn2r23 T A 6: 123,712,902 (GRCm38) F246I probably damaging Het
Vps9d1 A C 8: 123,248,639 (GRCm38) V194G probably damaging Het
Zfp260 A T 7: 30,104,810 (GRCm38) H45L possibly damaging Het
Zfp846 A T 9: 20,593,720 (GRCm38) H292L possibly damaging Het
Other mutations in Tjp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Tjp1 APN 7 65,301,219 (GRCm38) missense probably benign
IGL00848:Tjp1 APN 7 65,303,194 (GRCm38) missense probably benign 0.00
IGL01363:Tjp1 APN 7 65,302,965 (GRCm38) missense possibly damaging 0.94
IGL01526:Tjp1 APN 7 65,322,658 (GRCm38) missense probably damaging 1.00
IGL01607:Tjp1 APN 7 65,336,178 (GRCm38) missense possibly damaging 0.94
IGL02223:Tjp1 APN 7 65,322,601 (GRCm38) missense probably damaging 1.00
IGL02341:Tjp1 APN 7 65,312,634 (GRCm38) missense probably damaging 1.00
IGL02347:Tjp1 APN 7 65,301,064 (GRCm38) critical splice donor site probably null
IGL02452:Tjp1 APN 7 65,312,655 (GRCm38) missense probably damaging 1.00
IGL02512:Tjp1 APN 7 65,343,667 (GRCm38) missense probably damaging 1.00
IGL02552:Tjp1 APN 7 65,299,782 (GRCm38) nonsense probably null
IGL02707:Tjp1 APN 7 65,329,682 (GRCm38) missense possibly damaging 0.85
IGL02707:Tjp1 APN 7 65,329,683 (GRCm38) nonsense probably null
IGL02939:Tjp1 APN 7 65,314,890 (GRCm38) missense probably damaging 1.00
IGL03139:Tjp1 APN 7 65,340,434 (GRCm38) splice site probably benign
IGL03273:Tjp1 APN 7 65,299,799 (GRCm38) missense probably damaging 1.00
IGL03391:Tjp1 APN 7 65,314,969 (GRCm38) missense probably damaging 1.00
PIT4453001:Tjp1 UTSW 7 65,343,614 (GRCm38) critical splice donor site probably null
R0012:Tjp1 UTSW 7 65,329,775 (GRCm38) splice site probably benign
R0012:Tjp1 UTSW 7 65,329,775 (GRCm38) splice site probably benign
R0390:Tjp1 UTSW 7 65,314,990 (GRCm38) missense probably damaging 1.00
R0519:Tjp1 UTSW 7 65,302,921 (GRCm38) missense probably benign
R0653:Tjp1 UTSW 7 65,314,755 (GRCm38) missense probably damaging 1.00
R1163:Tjp1 UTSW 7 65,323,054 (GRCm38) missense probably damaging 1.00
R1544:Tjp1 UTSW 7 65,302,921 (GRCm38) missense probably benign
R1634:Tjp1 UTSW 7 65,302,952 (GRCm38) missense possibly damaging 0.94
R1767:Tjp1 UTSW 7 65,312,553 (GRCm38) critical splice donor site probably null
R1771:Tjp1 UTSW 7 65,313,005 (GRCm38) missense probably benign 0.45
R1794:Tjp1 UTSW 7 65,323,129 (GRCm38) missense probably damaging 1.00
R1874:Tjp1 UTSW 7 65,319,253 (GRCm38) missense probably damaging 1.00
R1971:Tjp1 UTSW 7 65,324,078 (GRCm38) missense probably damaging 1.00
R1981:Tjp1 UTSW 7 65,312,855 (GRCm38) missense probably damaging 0.99
R2086:Tjp1 UTSW 7 65,312,921 (GRCm38) missense probably damaging 1.00
R2310:Tjp1 UTSW 7 65,329,742 (GRCm38) missense possibly damaging 0.90
R2942:Tjp1 UTSW 7 65,318,006 (GRCm38) missense probably damaging 1.00
R3974:Tjp1 UTSW 7 65,297,639 (GRCm38) nonsense probably null
R4295:Tjp1 UTSW 7 65,323,150 (GRCm38) missense probably damaging 1.00
R4296:Tjp1 UTSW 7 65,318,489 (GRCm38) missense probably damaging 1.00
R4567:Tjp1 UTSW 7 65,306,501 (GRCm38) missense probably damaging 1.00
R4574:Tjp1 UTSW 7 65,322,605 (GRCm38) missense probably damaging 1.00
R4910:Tjp1 UTSW 7 65,343,727 (GRCm38) missense probably damaging 1.00
R4958:Tjp1 UTSW 7 65,336,102 (GRCm38) nonsense probably null
R5267:Tjp1 UTSW 7 65,323,049 (GRCm38) missense probably damaging 1.00
R5371:Tjp1 UTSW 7 65,313,311 (GRCm38) nonsense probably null
R5422:Tjp1 UTSW 7 65,302,967 (GRCm38) missense probably damaging 0.99
R5514:Tjp1 UTSW 7 65,354,861 (GRCm38) missense probably damaging 1.00
R5652:Tjp1 UTSW 7 65,312,443 (GRCm38) splice site probably null
R5693:Tjp1 UTSW 7 65,342,663 (GRCm38) missense possibly damaging 0.96
R5933:Tjp1 UTSW 7 65,302,852 (GRCm38) missense probably benign 0.29
R6043:Tjp1 UTSW 7 65,324,089 (GRCm38) missense probably damaging 1.00
R6491:Tjp1 UTSW 7 65,337,117 (GRCm38) missense possibly damaging 0.62
R6525:Tjp1 UTSW 7 65,343,651 (GRCm38) missense probably damaging 1.00
R6658:Tjp1 UTSW 7 65,301,077 (GRCm38) missense possibly damaging 0.82
R6917:Tjp1 UTSW 7 65,299,688 (GRCm38) missense probably damaging 0.99
R6960:Tjp1 UTSW 7 65,303,015 (GRCm38) missense possibly damaging 0.59
R7235:Tjp1 UTSW 7 65,318,573 (GRCm38) missense probably benign 0.16
R7274:Tjp1 UTSW 7 65,527,652 (GRCm38) missense possibly damaging 0.86
R7471:Tjp1 UTSW 7 65,314,690 (GRCm38) missense probably damaging 0.99
R7475:Tjp1 UTSW 7 65,322,339 (GRCm38) missense probably damaging 1.00
R7479:Tjp1 UTSW 7 65,301,180 (GRCm38) missense probably damaging 0.98
R8035:Tjp1 UTSW 7 65,342,702 (GRCm38) missense probably benign 0.34
R8195:Tjp1 UTSW 7 65,343,722 (GRCm38) missense probably damaging 1.00
R8276:Tjp1 UTSW 7 65,343,796 (GRCm38) intron probably benign
R8817:Tjp1 UTSW 7 65,303,062 (GRCm38) missense probably benign 0.41
R8869:Tjp1 UTSW 7 65,336,638 (GRCm38) missense probably damaging 1.00
R9043:Tjp1 UTSW 7 65,312,931 (GRCm38) missense probably benign 0.03
R9079:Tjp1 UTSW 7 65,301,218 (GRCm38) missense possibly damaging 0.77
R9081:Tjp1 UTSW 7 65,314,262 (GRCm38) missense possibly damaging 0.71
R9095:Tjp1 UTSW 7 65,302,997 (GRCm38) missense possibly damaging 0.82
R9145:Tjp1 UTSW 7 65,302,816 (GRCm38) missense probably benign 0.00
R9215:Tjp1 UTSW 7 65,312,847 (GRCm38) missense probably benign
R9581:Tjp1 UTSW 7 65,299,724 (GRCm38) missense probably damaging 1.00
R9665:Tjp1 UTSW 7 65,312,896 (GRCm38) missense probably benign
R9738:Tjp1 UTSW 7 65,336,632 (GRCm38) missense probably benign 0.00
X0022:Tjp1 UTSW 7 65,302,841 (GRCm38) missense possibly damaging 0.75
X0027:Tjp1 UTSW 7 65,314,759 (GRCm38) missense probably benign 0.18
Z1177:Tjp1 UTSW 7 65,343,732 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACGCTGGAAATAACCTCGTTC -3'
(R):5'- TTTTAAATGCAGGTGTACAGGAAGG -3'

Sequencing Primer
(F):5'- CGCTGGAAATAACCTCGTTCTGAAG -3'
(R):5'- TGTACAGGAAGGAGCCGTATTCTG -3'
Posted On 2018-05-24