Incidental Mutation 'IGL02341:Tjp1'
ID289093
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tjp1
Ensembl Gene ENSMUSG00000030516
Gene Nametight junction protein 1
SynonymsZO1, ZO-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02341
Quality Score
Status
Chromosome7
Chromosomal Location65296165-65527781 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 65312634 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 1185 (T1185I)
Ref Sequence ENSEMBL: ENSMUSP00000032729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032729] [ENSMUST00000102592] [ENSMUST00000206612]
Predicted Effect probably damaging
Transcript: ENSMUST00000032729
AA Change: T1185I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: T1185I

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: T1265I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: T1265I

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
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik T C 11: 58,612,830 S17G possibly damaging Het
Arid2 C T 15: 96,372,185 S1393L probably benign Het
Bahcc1 T A 11: 120,272,520 I548N probably damaging Het
Baiap3 A T 17: 25,248,316 L405Q possibly damaging Het
Cacna1g T G 11: 94,462,152 Q349P probably damaging Het
Ccdc30 T C 4: 119,356,781 T184A possibly damaging Het
Ccdc63 A G 5: 122,113,198 I383T probably benign Het
Ccnk A G 12: 108,195,730 E298G unknown Het
Ccnt1 T C 15: 98,546,783 E223G possibly damaging Het
Clcc1 T A 3: 108,673,383 L333I possibly damaging Het
Cyp2b10 G A 7: 25,911,242 R59Q probably benign Het
Cyp3a41b T A 5: 145,573,651 T138S probably benign Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah8 A T 17: 30,747,257 I2474F probably damaging Het
Dok1 T C 6: 83,033,054 T25A probably damaging Het
Ears2 G A 7: 122,039,764 A479V probably benign Het
Erc1 T A 6: 119,594,973 I981F possibly damaging Het
Fam129c A T 8: 71,603,799 N381I possibly damaging Het
Gm8730 A G 8: 102,865,143 noncoding transcript Het
Gm9962 C T 7: 57,387,294 probably benign Het
Has3 A T 8: 106,874,005 Y33F probably damaging Het
Hk1 A G 10: 62,284,380 S607P possibly damaging Het
Hlcs T A 16: 94,231,110 I612F probably damaging Het
Llgl2 T A 11: 115,851,120 S663T possibly damaging Het
Lrriq1 T C 10: 103,224,941 H100R probably benign Het
Magi2 T A 5: 20,466,203 I678N probably damaging Het
Megf11 G A 9: 64,544,620 G109S probably damaging Het
Morc2b A T 17: 33,137,307 I497K probably damaging Het
Mybpc2 A C 7: 44,514,930 S404A probably benign Het
Mylip A G 13: 45,391,276 R59G probably damaging Het
Mylk3 A T 8: 85,351,972 I501N probably damaging Het
Myo19 A G 11: 84,888,045 probably benign Het
Nat2 A G 8: 67,501,718 Y160C possibly damaging Het
Nf1 C T 11: 79,564,926 A2554V probably benign Het
Ninl A T 2: 150,944,605 C153* probably null Het
Nlrp5 C T 7: 23,404,152 R15C probably benign Het
Nphp4 A T 4: 152,555,469 probably benign Het
Obscn C A 11: 59,135,825 R184L probably benign Het
Olfr767 A T 10: 129,079,461 C167* probably null Het
Olfr771 T A 10: 129,160,433 I184F probably benign Het
Olfr804 A T 10: 129,705,489 T204S probably damaging Het
Phip A T 9: 82,932,883 V262D probably damaging Het
Ptprg T A 14: 12,154,360 S694T probably benign Het
Reck T A 4: 43,925,160 D466E probably damaging Het
Rimbp2 G T 5: 128,800,961 Y213* probably null Het
Scn2a C T 2: 65,688,377 T365M probably damaging Het
Scpep1 T A 11: 88,944,488 T120S probably benign Het
Sp7 T A 15: 102,359,222 T50S possibly damaging Het
Tbc1d1 A G 5: 64,275,407 R304G probably damaging Het
Tiam1 A G 16: 89,898,369 S67P probably damaging Het
Tspan2 T A 3: 102,765,213 I178N probably damaging Het
Tusc2 T A 9: 107,564,910 *103R probably null Het
Uggt1 A T 1: 36,164,519 *47R probably null Het
Unc13c T A 9: 73,933,210 I120F possibly damaging Het
Vcpip1 T A 1: 9,724,950 K1065N possibly damaging Het
Zfp532 C A 18: 65,624,778 P594Q probably damaging Het
Other mutations in Tjp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Tjp1 APN 7 65301219 missense probably benign
IGL00848:Tjp1 APN 7 65303194 missense probably benign 0.00
IGL01363:Tjp1 APN 7 65302965 missense possibly damaging 0.94
IGL01526:Tjp1 APN 7 65322658 missense probably damaging 1.00
IGL01607:Tjp1 APN 7 65336178 missense possibly damaging 0.94
IGL02223:Tjp1 APN 7 65322601 missense probably damaging 1.00
IGL02347:Tjp1 APN 7 65301064 critical splice donor site probably null
IGL02452:Tjp1 APN 7 65312655 missense probably damaging 1.00
IGL02512:Tjp1 APN 7 65343667 missense probably damaging 1.00
IGL02552:Tjp1 APN 7 65299782 nonsense probably null
IGL02707:Tjp1 APN 7 65329683 nonsense probably null
IGL02707:Tjp1 APN 7 65329682 missense possibly damaging 0.85
IGL02939:Tjp1 APN 7 65314890 missense probably damaging 1.00
IGL03139:Tjp1 APN 7 65340434 splice site probably benign
IGL03273:Tjp1 APN 7 65299799 missense probably damaging 1.00
IGL03391:Tjp1 APN 7 65314969 missense probably damaging 1.00
PIT4453001:Tjp1 UTSW 7 65343614 critical splice donor site probably null
R0012:Tjp1 UTSW 7 65329775 splice site probably benign
R0012:Tjp1 UTSW 7 65329775 splice site probably benign
R0390:Tjp1 UTSW 7 65314990 missense probably damaging 1.00
R0519:Tjp1 UTSW 7 65302921 missense probably benign
R0653:Tjp1 UTSW 7 65314755 missense probably damaging 1.00
R1163:Tjp1 UTSW 7 65323054 missense probably damaging 1.00
R1544:Tjp1 UTSW 7 65302921 missense probably benign
R1634:Tjp1 UTSW 7 65302952 missense possibly damaging 0.94
R1767:Tjp1 UTSW 7 65312553 critical splice donor site probably null
R1771:Tjp1 UTSW 7 65313005 missense probably benign 0.45
R1794:Tjp1 UTSW 7 65323129 missense probably damaging 1.00
R1874:Tjp1 UTSW 7 65319253 missense probably damaging 1.00
R1971:Tjp1 UTSW 7 65324078 missense probably damaging 1.00
R1981:Tjp1 UTSW 7 65312855 missense probably damaging 0.99
R2086:Tjp1 UTSW 7 65312921 missense probably damaging 1.00
R2310:Tjp1 UTSW 7 65329742 missense possibly damaging 0.90
R2942:Tjp1 UTSW 7 65318006 missense probably damaging 1.00
R3974:Tjp1 UTSW 7 65297639 nonsense probably null
R4295:Tjp1 UTSW 7 65323150 missense probably damaging 1.00
R4296:Tjp1 UTSW 7 65318489 missense probably damaging 1.00
R4567:Tjp1 UTSW 7 65306501 missense probably damaging 1.00
R4574:Tjp1 UTSW 7 65322605 missense probably damaging 1.00
R4910:Tjp1 UTSW 7 65343727 missense probably damaging 1.00
R4958:Tjp1 UTSW 7 65336102 nonsense probably null
R5267:Tjp1 UTSW 7 65323049 missense probably damaging 1.00
R5371:Tjp1 UTSW 7 65313311 nonsense probably null
R5422:Tjp1 UTSW 7 65302967 missense probably damaging 0.99
R5514:Tjp1 UTSW 7 65354861 missense probably damaging 1.00
R5652:Tjp1 UTSW 7 65312443 splice site probably null
R5693:Tjp1 UTSW 7 65342663 missense possibly damaging 0.96
R5933:Tjp1 UTSW 7 65302852 missense probably benign 0.29
R6043:Tjp1 UTSW 7 65324089 missense probably damaging 1.00
R6416:Tjp1 UTSW 7 65313205 missense possibly damaging 0.76
R6491:Tjp1 UTSW 7 65337117 missense possibly damaging 0.62
R6525:Tjp1 UTSW 7 65343651 missense probably damaging 1.00
R6658:Tjp1 UTSW 7 65301077 missense possibly damaging 0.82
R6917:Tjp1 UTSW 7 65299688 missense probably damaging 0.99
R6960:Tjp1 UTSW 7 65303015 missense possibly damaging 0.59
R7235:Tjp1 UTSW 7 65318573 missense probably benign 0.16
R7274:Tjp1 UTSW 7 65527652 missense possibly damaging 0.86
R7471:Tjp1 UTSW 7 65314690 missense probably damaging 0.99
R7475:Tjp1 UTSW 7 65322339 missense probably damaging 1.00
R7479:Tjp1 UTSW 7 65301180 missense probably damaging 0.98
R8035:Tjp1 UTSW 7 65342702 missense probably benign 0.34
R8195:Tjp1 UTSW 7 65343722 missense probably damaging 1.00
R8276:Tjp1 UTSW 7 65343796 intron probably benign
X0022:Tjp1 UTSW 7 65302841 missense possibly damaging 0.75
X0027:Tjp1 UTSW 7 65314759 missense probably benign 0.18
Z1177:Tjp1 UTSW 7 65343732 missense probably damaging 1.00
Posted On2015-04-16