Incidental Mutation 'IGL01959:Dsc1'
ID182330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsc1
Ensembl Gene ENSMUSG00000044322
Gene Namedesmocollin 1
SynonymsDsc1a, Dsc1b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL01959
Quality Score
Status
Chromosome18
Chromosomal Location20084184-20114871 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 20097225 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 341 (T341I)
Ref Sequence ENSEMBL: ENSMUSP00000153639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038710] [ENSMUST00000224432]
Predicted Effect probably benign
Transcript: ENSMUST00000038710
AA Change: T341I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: T341I

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
Cadherin_pro 29 111 2.61e-41 SMART
CA 155 240 2.78e-9 SMART
CA 264 352 5.94e-27 SMART
CA 375 470 5.27e-10 SMART
CA 493 575 1.18e-21 SMART
Blast:CA 593 672 5e-46 BLAST
transmembrane domain 692 714 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000224432
AA Change: T341I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224557
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional protein. Mice lacking the encoded protein exhibit epidermal fragility together with defects of epidermal barrier and differentiation. The neonatal mice lacking the encoded protein exhibit epidermal lesions and older mice develop chronic dermatitis. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T C 11: 51,091,818 noncoding transcript Het
Aip A G 19: 4,121,397 I13T probably damaging Het
Cacna2d1 C T 5: 16,212,897 P140S probably benign Het
Cald1 A G 6: 34,753,468 D40G probably damaging Het
Cep250 T A 2: 155,983,359 V1052E possibly damaging Het
Chd1 A G 17: 15,742,173 N731D probably damaging Het
Chml C T 1: 175,687,600 V252I probably benign Het
Cog8 T C 8: 107,056,378 Y93C probably damaging Het
Creld1 G A 6: 113,492,833 A399T probably damaging Het
Cyp2a4 T A 7: 26,307,708 V80E probably damaging Het
Cyp2c37 T A 19: 39,995,833 L255* probably null Het
Cyp2d12 C A 15: 82,555,344 probably benign Het
Dimt1 A G 13: 106,953,455 I229V probably benign Het
Ercc3 T A 18: 32,257,358 F567I probably damaging Het
Espl1 C A 15: 102,305,662 probably benign Het
Fcrls T C 3: 87,259,632 D18G probably damaging Het
Fnip1 T A 11: 54,490,912 S296R possibly damaging Het
Fzd5 C A 1: 64,735,946 A219S possibly damaging Het
Gbp7 A G 3: 142,541,347 probably benign Het
Gm3298 T C 14: 5,018,731 L162S probably damaging Het
Hspa1l A G 17: 34,977,135 E50G probably damaging Het
Ipo9 T C 1: 135,420,355 probably null Het
Kazn A G 4: 142,150,884 L185P probably damaging Het
Kcnh8 T C 17: 52,834,607 S293P probably damaging Het
Lrp1b T C 2: 41,312,527 T1191A probably damaging Het
Mnat1 A G 12: 73,181,931 probably benign Het
Msx2 C T 13: 53,468,602 probably benign Het
Ndufs2 T G 1: 171,237,229 I317L probably benign Het
Nms T C 1: 38,941,925 probably benign Het
Oosp3 T A 19: 11,700,922 F87L probably benign Het
Pask A G 1: 93,334,607 V177A probably benign Het
Poldip2 G T 11: 78,512,307 probably benign Het
Prr14l A T 5: 32,830,205 S649T possibly damaging Het
Slc6a18 T A 13: 73,677,865 N22I probably damaging Het
Smco2 T A 6: 146,861,710 S228T probably benign Het
Speer4a G A 5: 26,035,904 Q197* probably null Het
Speg A G 1: 75,391,090 K641R probably damaging Het
Strip2 G A 6: 29,928,554 V286M probably damaging Het
Tnfrsf22 C T 7: 143,643,275 probably null Het
Tnpo3 A G 6: 29,589,020 probably benign Het
Top2b T A 14: 16,422,695 N1377K probably benign Het
Trmt1 T A 8: 84,691,376 probably null Het
Trpm1 A G 7: 64,208,975 M266V possibly damaging Het
Vmn1r199 A G 13: 22,383,120 T195A probably benign Het
Vmn2r10 A G 5: 108,997,705 V512A probably benign Het
Zfp777 A G 6: 48,044,341 F116L probably benign Het
Zp3r T A 1: 130,591,451 K253* probably null Het
Other mutations in Dsc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Dsc1 APN 18 20101886 missense probably damaging 1.00
IGL00571:Dsc1 APN 18 20110138 missense probably damaging 1.00
IGL00790:Dsc1 APN 18 20094896 missense probably damaging 1.00
IGL00963:Dsc1 APN 18 20111986 missense probably null 0.01
IGL00972:Dsc1 APN 18 20088363 missense probably benign 0.32
IGL01112:Dsc1 APN 18 20094622 missense probably benign 0.02
IGL01458:Dsc1 APN 18 20099138 missense probably damaging 1.00
IGL01607:Dsc1 APN 18 20089663 missense probably damaging 1.00
IGL01794:Dsc1 APN 18 20110183 missense probably damaging 1.00
IGL02066:Dsc1 APN 18 20108803 unclassified probably benign
IGL02365:Dsc1 APN 18 20108816 missense probably damaging 1.00
IGL02714:Dsc1 APN 18 20087485 missense probably damaging 1.00
IGL02959:Dsc1 APN 18 20108885 missense probably damaging 1.00
IGL03019:Dsc1 APN 18 20088364 missense probably benign 0.00
IGL03106:Dsc1 APN 18 20086644 splice site probably null
R0414:Dsc1 UTSW 18 20088354 missense possibly damaging 0.85
R0456:Dsc1 UTSW 18 20099112 missense probably damaging 1.00
R0612:Dsc1 UTSW 18 20114516 missense probably damaging 0.96
R0630:Dsc1 UTSW 18 20085862 missense probably damaging 1.00
R0646:Dsc1 UTSW 18 20096057 missense probably damaging 1.00
R0928:Dsc1 UTSW 18 20110249 splice site probably null
R0976:Dsc1 UTSW 18 20095041 splice site probably null
R1221:Dsc1 UTSW 18 20114542 nonsense probably null
R1398:Dsc1 UTSW 18 20088336 missense probably damaging 1.00
R1902:Dsc1 UTSW 18 20095988 missense probably damaging 1.00
R1903:Dsc1 UTSW 18 20095988 missense probably damaging 1.00
R2070:Dsc1 UTSW 18 20088296 splice site probably null
R2119:Dsc1 UTSW 18 20110152 missense probably benign 0.07
R3935:Dsc1 UTSW 18 20097241 missense probably benign 0.00
R4747:Dsc1 UTSW 18 20094558 missense probably damaging 1.00
R5034:Dsc1 UTSW 18 20095027 missense possibly damaging 0.91
R5243:Dsc1 UTSW 18 20099159 missense probably damaging 1.00
R5289:Dsc1 UTSW 18 20101853 missense possibly damaging 0.72
R5300:Dsc1 UTSW 18 20094860 missense probably damaging 1.00
R5354:Dsc1 UTSW 18 20087575 missense probably damaging 1.00
R5376:Dsc1 UTSW 18 20088446 missense probably benign 0.21
R5808:Dsc1 UTSW 18 20086829 nonsense probably null
R5860:Dsc1 UTSW 18 20095024 missense probably damaging 1.00
R6059:Dsc1 UTSW 18 20110242 missense probably damaging 0.98
R6116:Dsc1 UTSW 18 20097299 missense probably benign 0.10
R6351:Dsc1 UTSW 18 20086769 missense probably damaging 1.00
R6422:Dsc1 UTSW 18 20095033 missense probably damaging 1.00
R6811:Dsc1 UTSW 18 20089654 missense probably benign
R6880:Dsc1 UTSW 18 20088372 missense probably damaging 0.99
R6941:Dsc1 UTSW 18 20097189 missense probably benign 0.00
R6997:Dsc1 UTSW 18 20086644 splice site probably null
R7255:Dsc1 UTSW 18 20097273 missense probably benign 0.12
R7456:Dsc1 UTSW 18 20086822 missense probably benign 0.00
R7492:Dsc1 UTSW 18 20107680 missense possibly damaging 0.46
R7503:Dsc1 UTSW 18 20085865 missense probably damaging 1.00
Posted On2014-05-07