Incidental Mutation 'IGL01141:Jup'
ID52383
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 #IGL01141
Quality Score
Status
Chromosome11
Chromosomal Location100368958-100397763 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100386249 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 44 (D44E)
Ref Sequence ENSEMBL: ENSMUSP00000103026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001592] [ENSMUST00000107403]
Predicted Effect probably benign
Transcript: ENSMUST00000001592
AA Change: D44E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: D44E

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 benign
Transcript: ENSMUST00000107403
AA Change: D44E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: D44E

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: ENSMUST00000123903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149798
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,937,730 D1447E probably damaging Het
Atp2a3 T C 11: 72,982,665 I788T probably damaging Het
Axin1 G A 17: 26,190,041 E672K probably damaging Het
Ccno A G 13: 112,989,027 D175G probably damaging Het
Cep83 C A 10: 94,788,757 T632K probably benign Het
Ckmt1 A T 2: 121,362,993 I345F probably benign Het
Cntnap1 G A 11: 101,178,807 probably benign Het
Edem2 A G 2: 155,709,028 Y340H probably benign Het
Erich3 A G 3: 154,714,016 K249R probably benign Het
Fndc9 T C 11: 46,237,699 I15T probably benign Het
Gm4758 A G 16: 36,308,064 E7G probably benign Het
Grip2 G T 6: 91,782,897 Q300K probably benign Het
Herc2 T C 7: 56,212,841 V4050A possibly damaging Het
Lingo3 G T 10: 80,835,313 P261Q probably damaging Het
Lrrfip2 C T 9: 111,219,715 R311W probably damaging Het
Mansc1 C A 6: 134,621,785 L56F probably benign Het
Map1b A G 13: 99,434,761 I484T probably damaging Het
Mpeg1 T A 19: 12,462,785 F536I probably damaging Het
Mrgprb1 T G 7: 48,448,027 T46P probably benign Het
Mug1 A G 6: 121,870,499 N612S probably benign Het
Olfr477 T C 7: 107,990,551 F62S probably damaging Het
Olfr805 T A 10: 129,722,945 I200L probably benign Het
Pax8 A G 2: 24,441,150 S178P probably damaging Het
Peak1 A G 9: 56,258,527 F706L probably benign Het
Prkdc A G 16: 15,726,704 T1853A probably damaging Het
Reln A C 5: 21,969,033 F2024C probably damaging Het
Reln G T 5: 21,919,069 P2813Q probably damaging Het
Riox1 A G 12: 83,951,794 Q368R probably damaging Het
Rspry1 T C 8: 94,649,855 V335A probably benign Het
Scn3a T C 2: 65,495,113 N1020S possibly damaging Het
Scyl2 A G 10: 89,640,635 V876A probably benign Het
Sdhaf3 T A 6: 6,956,141 F39I probably damaging Het
Sfxn4 T C 19: 60,851,014 E202G possibly damaging Het
Slc1a4 A T 11: 20,308,644 probably benign Het
Sln A G 9: 53,853,500 I10V probably benign Het
Ssh2 A G 11: 77,449,726 E568G probably damaging Het
Supt7l G A 5: 31,518,435 P270S probably benign Het
Tanc2 A G 11: 105,886,474 probably benign Het
Tatdn1 A T 15: 58,909,567 probably benign Het
Tfip11 C T 5: 112,329,503 P117L possibly damaging Het
Vpreb1 T C 16: 16,869,087 M9V probably benign Het
Other mutations in Jup
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02450:Jup APN 11 100378357 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
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 unclassified 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
Posted On2013-06-21