Incidental Mutation 'R6059:Dsc1'
ID 483154
Institutional Source Beutler Lab
Gene Symbol Dsc1
Ensembl Gene ENSMUSG00000044322
Gene Name desmocollin 1
Synonyms Dsc1a, Dsc1b
MMRRC Submission 044225-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6059 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 20217241-20247928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20243299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 51 (N51K)
Ref Sequence ENSEMBL: ENSMUSP00000042303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038710] [ENSMUST00000224432] [ENSMUST00000226115]
AlphaFold P55849
Predicted Effect probably damaging
Transcript: ENSMUST00000038710
AA Change: N51K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: N51K

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 possibly damaging
Transcript: ENSMUST00000224432
AA Change: N51K

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224557
Predicted Effect probably damaging
Transcript: ENSMUST00000226115
AA Change: N51K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.1726 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 95% (54/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik C A 17: 48,400,847 (GRCm39) T44K probably benign Het
Ablim2 A G 5: 36,014,508 (GRCm39) D189G probably benign Het
Abo A G 2: 26,733,365 (GRCm39) V278A possibly damaging Het
Anxa1 A G 19: 20,355,064 (GRCm39) F237L possibly damaging Het
Atp11b A G 3: 35,868,326 (GRCm39) Y466C possibly damaging Het
Cfh T A 1: 140,046,428 (GRCm39) K531N possibly damaging Het
Cgref1 G T 5: 31,102,728 (GRCm39) P31Q probably damaging Het
Clca3a2 G A 3: 144,516,531 (GRCm39) A355V probably damaging Het
Cntnap5c T A 17: 58,620,707 (GRCm39) C929S probably damaging Het
Col6a6 A T 9: 105,661,116 (GRCm39) V331D probably damaging Het
Cyp4a12b T A 4: 115,295,301 (GRCm39) V469E possibly damaging Het
Dchs2 A G 3: 83,263,043 (GRCm39) S3104G probably benign Het
Ddx24 G T 12: 103,374,559 (GRCm39) A875E probably damaging Het
Efcab3 T C 11: 104,927,595 (GRCm39) I4788T probably benign Het
Epb41l3 C T 17: 69,593,793 (GRCm39) T537I probably damaging Het
Epb41l3 A G 17: 69,591,637 (GRCm39) E708G probably damaging Het
Fam162b A T 10: 51,466,403 (GRCm39) C39S probably benign Het
Garre1 G A 7: 33,944,888 (GRCm39) A452V possibly damaging Het
Gbf1 T C 19: 46,253,687 (GRCm39) I531T probably damaging Het
Glipr1l2 T C 10: 111,919,423 (GRCm39) V48A probably benign Het
Gorasp1 A G 9: 119,759,072 (GRCm39) V177A probably damaging Het
Gys1 A G 7: 45,104,712 (GRCm39) probably null Het
Hif1a T A 12: 73,988,574 (GRCm39) V523E probably damaging Het
Hnrnph3 A T 10: 62,854,641 (GRCm39) probably benign Het
Lcn9 C A 2: 25,714,737 (GRCm39) L159I possibly damaging Het
Luzp1 C T 4: 136,268,791 (GRCm39) A338V probably benign Het
Map3k10 A T 7: 27,356,247 (GRCm39) S891T probably damaging Het
Mmrn2 C T 14: 34,119,548 (GRCm39) Q97* probably null Het
Mov10 G A 3: 104,725,266 (GRCm39) probably benign Het
Ncam1 A C 9: 49,455,966 (GRCm39) Y551D probably damaging Het
Ncf1 A T 5: 134,252,341 (GRCm39) Y237N probably damaging Het
Nipbl A T 15: 8,325,052 (GRCm39) I2537N probably damaging Het
Nlrp1b A T 11: 71,107,836 (GRCm39) V555E possibly damaging Het
Nod2 T C 8: 89,391,042 (GRCm39) Y428H probably damaging Het
Nup133 C A 8: 124,641,335 (GRCm39) A862S probably damaging Het
Pcdhgb2 T A 18: 37,823,078 (GRCm39) L23* probably null Het
Pclo A G 5: 14,861,714 (GRCm39) E4889G unknown Het
Plcd3 T A 11: 102,971,227 (GRCm39) I110F possibly damaging Het
Plxna2 C A 1: 194,493,279 (GRCm39) N1851K possibly damaging Het
Ppp2r5c C A 12: 110,541,222 (GRCm39) A457E probably benign Het
Ppp5c C T 7: 16,761,832 (GRCm39) probably benign Het
Pramel25 T G 4: 143,520,550 (GRCm39) S101A possibly damaging Het
Prg4 T A 1: 150,325,748 (GRCm39) Y1009F possibly damaging Het
Rcor3 A T 1: 191,804,240 (GRCm39) M303K probably benign Het
Rrn3 G A 16: 13,624,468 (GRCm39) M433I probably benign Het
Serpinb9e G A 13: 33,441,757 (GRCm39) V230M probably benign Het
Shisa6 T A 11: 66,115,800 (GRCm39) H279L probably damaging Het
Slc38a11 A T 2: 65,165,089 (GRCm39) I234N probably damaging Het
Socs1 G C 16: 10,602,394 (GRCm39) F114L probably damaging Het
Ssc5d C T 7: 4,945,743 (GRCm39) T925M possibly damaging Het
Stc1 T C 14: 69,269,887 (GRCm39) S156P probably damaging Het
Ttc5 C G 14: 51,015,303 (GRCm39) V103L probably damaging Het
Vmn1r73 A G 7: 11,490,538 (GRCm39) T119A probably benign Het
Vmn2r99 G A 17: 19,599,242 (GRCm39) D309N probably benign Het
Vps53 T C 11: 75,957,693 (GRCm39) H353R possibly damaging Het
Ythdf3 T A 3: 16,257,356 (GRCm39) Y47* probably null Het
Zfp276 T C 8: 123,994,562 (GRCm39) M543T 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
IGL02714:Dsc1 APN 18 20,220,542 (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
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
Predicted Primers PCR Primer
(F):5'- AGGGCCATGAAAGTACATCC -3'
(R):5'- GGAACCATAACTTCACTAGTTTAGC -3'

Sequencing Primer
(F):5'- TGCTGACAGTACAACTTCTAGC -3'
(R):5'- AGCTTTCACGATCCCTACATTTAG -3'
Posted On 2017-07-14