Incidental Mutation 'IGL02450:Jup'
ID294113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jup
Ensembl Gene ENSMUSG00000001552
Gene Namejunction plakoglobin
SynonymsPG, gamma-catenin, Ctnng, plakoglobin, D930025P04Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02450
Quality Score
Status
Chromosome11
Chromosomal Location100368958-100397763 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 100378357 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 410 (C410Y)
Ref Sequence ENSEMBL: ENSMUSP00000103026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001592] [ENSMUST00000107403]
Predicted Effect probably damaging
Transcript: ENSMUST00000001592
AA Change: C410Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: C410Y

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
ARM 132 171 3.58e1 SMART
ARM 172 214 4.03e1 SMART
ARM 215 255 1.07e-4 SMART
ARM 256 297 1.66e-1 SMART
ARM 299 340 1.86e1 SMART
ARM 341 381 9.23e-9 SMART
ARM 382 420 2.29e1 SMART
ARM 422 464 7.34e-3 SMART
ARM 469 510 8.3e-2 SMART
ARM 511 572 7.45e-4 SMART
ARM 573 613 5.35e-5 SMART
ARM 614 654 1.56e1 SMART
low complexity region 708 723 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107403
AA Change: C410Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: C410Y

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
ARM 132 171 3.58e1 SMART
ARM 172 214 4.03e1 SMART
ARM 215 255 1.07e-4 SMART
ARM 256 297 1.66e-1 SMART
ARM 299 340 1.86e1 SMART
ARM 341 381 9.23e-9 SMART
ARM 382 420 2.29e1 SMART
ARM 422 464 7.34e-3 SMART
ARM 469 510 8.3e-2 SMART
ARM 511 572 7.45e-4 SMART
ARM 573 613 5.35e-5 SMART
ARM 614 654 1.56e1 SMART
low complexity region 708 723 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155746
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 major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,914,762 *781W probably null Het
Adamts16 C A 13: 70,836,300 R81S probably damaging Het
Aldh1l1 A G 6: 90,569,873 D386G probably benign Het
Anxa6 G A 11: 54,994,941 R393W probably damaging Het
Bdnf G A 2: 109,723,604 V108I possibly damaging Het
Bpgm C T 6: 34,487,464 R39W probably damaging Het
Cd101 T C 3: 100,993,738 E1006G probably damaging Het
Cd109 A T 9: 78,695,850 E972V possibly damaging Het
Cdhr3 T A 12: 33,082,225 Q133L probably benign Het
Cdk5r1 C T 11: 80,477,840 A111V probably benign Het
Cnga4 A T 7: 105,405,748 I77F probably damaging Het
Egfem1 G A 3: 29,657,268 probably null Het
Fam205c A G 4: 42,874,127 S14P probably benign Het
Fbxl21 T A 13: 56,526,953 V39D possibly damaging Het
Gimap6 T C 6: 48,704,417 I94M probably benign Het
Glis1 T C 4: 107,627,529 V407A probably benign Het
Gm5784 C T 12: 19,387,969 noncoding transcript Het
Gm9839 A T 1: 32,520,883 probably benign Het
Heatr5a T A 12: 51,945,430 M566L probably benign Het
Jph1 G A 1: 17,003,977 P606S possibly damaging Het
Kif23 A G 9: 61,923,957 M777T probably benign Het
Lifr G T 15: 7,190,765 D959Y probably damaging Het
Lsm1 C A 8: 25,793,778 L73I possibly damaging Het
Maneal G A 4: 124,857,135 A276V probably benign Het
Myh4 A G 11: 67,251,809 D932G probably damaging Het
Nipbl C T 15: 8,343,574 V1063M probably damaging Het
Nlrx1 A G 9: 44,253,501 V882A probably benign Het
Obox6 A G 7: 15,833,713 C270R probably damaging Het
Olfr525 A G 7: 140,323,227 H176R possibly damaging Het
Pard3b A G 1: 62,532,676 I925V possibly damaging Het
Pdhx A G 2: 103,042,249 S163P probably benign Het
Pdzrn3 T C 6: 101,354,500 D271G probably damaging Het
Plec A G 15: 76,191,315 I399T probably damaging Het
Pthlh T G 6: 147,257,168 D98A possibly damaging Het
Spock3 T A 8: 63,245,215 probably null Het
Tgtp2 C T 11: 49,059,490 G85D probably benign Het
Tmem94 A G 11: 115,793,071 D739G probably damaging Het
Washc5 G A 15: 59,332,317 R706* probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan20 G T 4: 128,586,657 D680E probably damaging Het
Other mutations in Jup
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Jup APN 11 100386249 missense probably benign
IGL01797:Jup APN 11 100381672 splice site probably benign
IGL01926:Jup APN 11 100383586 missense probably benign 0.00
IGL02030:Jup APN 11 100376991 missense probably damaging 0.96
IGL02073:Jup APN 11 100383389 splice site probably benign
IGL02218:Jup APN 11 100381839 missense probably damaging 1.00
IGL02955:Jup APN 11 100376739 missense probably benign 0.31
IGL02976:Jup APN 11 100378366 missense probably benign 0.40
IGL03023:Jup APN 11 100380692 splice site probably benign
Jove UTSW 11 100386287 missense probably damaging 1.00
IGL02802:Jup UTSW 11 100378378 missense probably benign
PIT4403001:Jup UTSW 11 100378087 critical splice donor site probably null
R0426:Jup UTSW 11 100372401 missense probably benign 0.02
R0626:Jup UTSW 11 100376763 missense probably benign
R1330:Jup UTSW 11 100372676 missense probably benign 0.02
R1437:Jup UTSW 11 100383576 missense probably benign 0.06
R1448:Jup UTSW 11 100383200 missense probably damaging 1.00
R1473:Jup UTSW 11 100379601 missense possibly damaging 0.79
R1686:Jup UTSW 11 100372434 missense probably damaging 0.96
R1824:Jup UTSW 11 100374137 nonsense probably null
R1875:Jup UTSW 11 100372294 splice site probably null
R2017:Jup UTSW 11 100386341 missense probably benign 0.01
R2989:Jup UTSW 11 100376841 missense possibly damaging 0.92
R3881:Jup UTSW 11 100378381 missense probably benign
R3882:Jup UTSW 11 100378381 missense probably benign
R4176:Jup UTSW 11 100372461 missense probably benign 0.03
R4612:Jup UTSW 11 100381834 missense probably damaging 0.98
R4808:Jup UTSW 11 100378192 missense probably damaging 0.99
R4854:Jup UTSW 11 100383041 missense possibly damaging 0.73
R4995:Jup UTSW 11 100379541 nonsense probably null
R5133:Jup UTSW 11 100383115 missense probably benign 0.02
R5408:Jup UTSW 11 100376781 missense probably damaging 1.00
R5641:Jup UTSW 11 100376806 missense possibly damaging 0.62
R5991:Jup UTSW 11 100379569 missense possibly damaging 0.59
R6431:Jup UTSW 11 100374341 missense probably benign 0.01
R6805:Jup UTSW 11 100383458 missense probably benign 0.17
R7022:Jup UTSW 11 100379553 missense probably damaging 1.00
R7203:Jup UTSW 11 100381734 missense probably damaging 1.00
R7399:Jup UTSW 11 100378351 missense possibly damaging 0.87
R7707:Jup UTSW 11 100383052 missense possibly damaging 0.90
R8017:Jup UTSW 11 100374197 missense probably benign 0.34
R8019:Jup UTSW 11 100374197 missense probably benign 0.34
R8074:Jup UTSW 11 100386287 missense probably damaging 1.00
R8181:Jup UTSW 11 100376925 missense probably damaging 1.00
R8326:Jup UTSW 11 100381745 missense probably benign 0.33
Posted On2015-04-16