Incidental Mutation 'IGL02714:Dsc1'
ID 304678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsc1
Ensembl Gene ENSMUSG00000044322
Gene Name desmocollin 1
Synonyms Dsc1a, Dsc1b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL02714
Quality Score
Status
Chromosome 18
Chromosomal Location 20217241-20247928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20220542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 744 (E744G)
Ref Sequence ENSEMBL: ENSMUSP00000153639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038710] [ENSMUST00000224432]
AlphaFold P55849
Predicted Effect probably damaging
Transcript: ENSMUST00000038710
AA Change: E744G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: E744G

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: E744G

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcam T A 7: 19,492,732 (GRCm39) probably benign Het
Bod1l T C 5: 41,973,682 (GRCm39) D2544G probably benign Het
Cd86 T C 16: 36,441,290 (GRCm39) D59G possibly damaging Het
Ckmt2 A G 13: 92,006,427 (GRCm39) M306T possibly damaging Het
Gpr139 T A 7: 118,744,342 (GRCm39) D81V possibly damaging Het
Lsg1 T C 16: 30,404,368 (GRCm39) probably null Het
Ly9 A G 1: 171,432,686 (GRCm39) V109A possibly damaging Het
Mcm3ap T A 10: 76,346,867 (GRCm39) S1806T probably benign Het
Met T A 6: 17,491,851 (GRCm39) Y204* probably null Het
Or8b35 T A 9: 37,904,382 (GRCm39) I198N possibly damaging Het
Ppp1r13l T C 7: 19,111,568 (GRCm39) S798P possibly damaging Het
Ppp2r5b C T 19: 6,284,737 (GRCm39) R42H probably damaging Het
Prg2 T A 2: 84,813,849 (GRCm39) I220N probably damaging Het
Prph A G 15: 98,954,747 (GRCm39) D271G probably damaging Het
Rassf9 T A 10: 102,348,424 (GRCm39) L9Q possibly damaging Het
Rpap3 A G 15: 97,594,458 (GRCm39) Y157H possibly damaging Het
Tacstd2 A T 6: 67,512,053 (GRCm39) I213N probably damaging Het
Tlr12 A G 4: 128,511,506 (GRCm39) L248P probably damaging Het
Trip11 A T 12: 101,850,260 (GRCm39) I1268N probably damaging Het
Zp1 C T 19: 10,895,976 (GRCm39) G220D probably damaging Het
Other mutations in Dsc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Dsc1 APN 18 20,234,943 (GRCm39) missense probably damaging 1.00
IGL00571:Dsc1 APN 18 20,243,195 (GRCm39) missense probably damaging 1.00
IGL00790:Dsc1 APN 18 20,227,953 (GRCm39) missense probably damaging 1.00
IGL00963:Dsc1 APN 18 20,245,043 (GRCm39) missense probably null 0.01
IGL00972:Dsc1 APN 18 20,221,420 (GRCm39) missense probably benign 0.32
IGL01112:Dsc1 APN 18 20,227,679 (GRCm39) missense probably benign 0.02
IGL01458:Dsc1 APN 18 20,232,195 (GRCm39) missense probably damaging 1.00
IGL01607:Dsc1 APN 18 20,222,720 (GRCm39) missense probably damaging 1.00
IGL01794:Dsc1 APN 18 20,243,240 (GRCm39) missense probably damaging 1.00
IGL01959:Dsc1 APN 18 20,230,282 (GRCm39) missense probably damaging 1.00
IGL02066:Dsc1 APN 18 20,241,860 (GRCm39) unclassified probably benign
IGL02365:Dsc1 APN 18 20,241,873 (GRCm39) missense probably damaging 1.00
IGL02959:Dsc1 APN 18 20,241,942 (GRCm39) missense probably damaging 1.00
IGL03019:Dsc1 APN 18 20,221,421 (GRCm39) missense probably benign 0.00
IGL03106:Dsc1 APN 18 20,219,701 (GRCm39) splice site probably null
R0414:Dsc1 UTSW 18 20,221,411 (GRCm39) missense possibly damaging 0.85
R0456:Dsc1 UTSW 18 20,232,169 (GRCm39) missense probably damaging 1.00
R0612:Dsc1 UTSW 18 20,247,573 (GRCm39) missense probably damaging 0.96
R0630:Dsc1 UTSW 18 20,218,919 (GRCm39) missense probably damaging 1.00
R0646:Dsc1 UTSW 18 20,229,114 (GRCm39) missense probably damaging 1.00
R0928:Dsc1 UTSW 18 20,243,306 (GRCm39) splice site probably null
R0976:Dsc1 UTSW 18 20,228,098 (GRCm39) splice site probably null
R1221:Dsc1 UTSW 18 20,247,599 (GRCm39) nonsense probably null
R1398:Dsc1 UTSW 18 20,221,393 (GRCm39) missense probably damaging 1.00
R1902:Dsc1 UTSW 18 20,229,045 (GRCm39) missense probably damaging 1.00
R1903:Dsc1 UTSW 18 20,229,045 (GRCm39) missense probably damaging 1.00
R2070:Dsc1 UTSW 18 20,221,353 (GRCm39) splice site probably null
R2119:Dsc1 UTSW 18 20,243,209 (GRCm39) missense probably benign 0.07
R3935:Dsc1 UTSW 18 20,230,298 (GRCm39) missense probably benign 0.00
R4747:Dsc1 UTSW 18 20,227,615 (GRCm39) missense probably damaging 1.00
R5034:Dsc1 UTSW 18 20,228,084 (GRCm39) missense possibly damaging 0.91
R5243:Dsc1 UTSW 18 20,232,216 (GRCm39) missense probably damaging 1.00
R5289:Dsc1 UTSW 18 20,234,910 (GRCm39) missense possibly damaging 0.72
R5300:Dsc1 UTSW 18 20,227,917 (GRCm39) missense probably damaging 1.00
R5354:Dsc1 UTSW 18 20,220,632 (GRCm39) missense probably damaging 1.00
R5376:Dsc1 UTSW 18 20,221,503 (GRCm39) missense probably benign 0.21
R5808:Dsc1 UTSW 18 20,219,886 (GRCm39) nonsense probably null
R5860:Dsc1 UTSW 18 20,228,081 (GRCm39) missense probably damaging 1.00
R6059:Dsc1 UTSW 18 20,243,299 (GRCm39) missense probably damaging 0.98
R6116:Dsc1 UTSW 18 20,230,356 (GRCm39) missense probably benign 0.10
R6351:Dsc1 UTSW 18 20,219,826 (GRCm39) missense probably damaging 1.00
R6422:Dsc1 UTSW 18 20,228,090 (GRCm39) missense probably damaging 1.00
R6811:Dsc1 UTSW 18 20,222,711 (GRCm39) missense probably benign
R6880:Dsc1 UTSW 18 20,221,429 (GRCm39) missense probably damaging 0.99
R6941:Dsc1 UTSW 18 20,230,246 (GRCm39) missense probably benign 0.00
R6997:Dsc1 UTSW 18 20,219,701 (GRCm39) splice site probably null
R7255:Dsc1 UTSW 18 20,230,330 (GRCm39) missense probably benign 0.12
R7456:Dsc1 UTSW 18 20,219,879 (GRCm39) missense probably benign 0.00
R7492:Dsc1 UTSW 18 20,240,737 (GRCm39) missense possibly damaging 0.46
R7503:Dsc1 UTSW 18 20,218,922 (GRCm39) missense probably damaging 1.00
R8030:Dsc1 UTSW 18 20,222,628 (GRCm39) missense probably benign
R8167:Dsc1 UTSW 18 20,230,258 (GRCm39) missense probably damaging 1.00
R8444:Dsc1 UTSW 18 20,222,636 (GRCm39) missense probably benign 0.00
R8701:Dsc1 UTSW 18 20,240,739 (GRCm39) nonsense probably null
R8928:Dsc1 UTSW 18 20,243,225 (GRCm39) missense probably benign 0.01
R9133:Dsc1 UTSW 18 20,234,904 (GRCm39) missense probably benign 0.00
R9144:Dsc1 UTSW 18 20,218,639 (GRCm39) missense possibly damaging 0.95
R9189:Dsc1 UTSW 18 20,232,214 (GRCm39) missense possibly damaging 0.52
R9330:Dsc1 UTSW 18 20,243,214 (GRCm39) missense possibly damaging 0.67
R9372:Dsc1 UTSW 18 20,221,489 (GRCm39) missense probably damaging 1.00
R9565:Dsc1 UTSW 18 20,240,791 (GRCm39) missense probably damaging 0.99
R9685:Dsc1 UTSW 18 20,232,087 (GRCm39) missense possibly damaging 0.88
R9702:Dsc1 UTSW 18 20,227,685 (GRCm39) missense probably benign 0.06
Z1176:Dsc1 UTSW 18 20,247,595 (GRCm39) missense probably benign 0.15
Posted On 2015-04-16