Incidental Mutation 'R5034:Dsc1'
ID 389473
Institutional Source Beutler Lab
Gene Symbol Dsc1
Ensembl Gene ENSMUSG00000044322
Gene Name desmocollin 1
Synonyms Dsc1a, Dsc1b
MMRRC Submission 042625-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R5034 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 20217241-20247928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20228084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 424 (Y424F)
Ref Sequence ENSEMBL: ENSMUSP00000042303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038710] [ENSMUST00000224432]
AlphaFold P55849
Predicted Effect possibly damaging
Transcript: ENSMUST00000038710
AA Change: Y424F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: Y424F

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 benign
Transcript: ENSMUST00000224432
AA Change: Y424F

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224557
Meta Mutation Damage Score 0.1910 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (67/69)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,136,090 (GRCm39) S482T probably benign Het
Adam6b G T 12: 113,454,547 (GRCm39) G455C probably damaging Het
Ahsg C A 16: 22,717,650 (GRCm39) P237Q probably damaging Het
Asxl2 A G 12: 3,552,193 (GRCm39) S1312G probably damaging Het
Brinp3 C T 1: 146,603,458 (GRCm39) probably benign Het
Col12a1 T C 9: 79,564,649 (GRCm39) H1677R probably damaging Het
Cops7a A G 6: 124,939,583 (GRCm39) probably null Het
Csmd2 G A 4: 127,952,901 (GRCm39) A117T probably damaging Het
Csmd3 T C 15: 47,492,683 (GRCm39) R3153G possibly damaging Het
Dctn4 A G 18: 60,685,956 (GRCm39) N342D probably benign Het
Dennd5a A T 7: 109,499,004 (GRCm39) I953N probably damaging Het
Dmwd T C 7: 18,814,219 (GRCm39) S290P probably damaging Het
Far2 C A 6: 148,074,939 (GRCm39) L391M probably benign Het
Foxd3 G A 4: 99,545,327 (GRCm39) G156S probably damaging Het
Galk2 A T 2: 125,771,495 (GRCm39) E173D probably benign Het
Hcar1 T C 5: 124,017,732 (GRCm39) probably benign Het
Hsd17b11 C T 5: 104,166,087 (GRCm39) V91M possibly damaging Het
Ighv1-77 C T 12: 115,825,494 (GRCm39) C115Y probably damaging Het
Ighv9-2 A G 12: 114,073,025 (GRCm39) F9S probably damaging Het
Kdm6b A G 11: 69,292,736 (GRCm39) probably benign Het
Kif21a T A 15: 90,852,561 (GRCm39) R890W probably null Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Magel2 A T 7: 62,029,616 (GRCm39) H840L unknown Het
Mrgpra4 A G 7: 47,631,317 (GRCm39) F95L probably benign Het
Myo7b A G 18: 32,104,440 (GRCm39) L1436P probably damaging Het
Nf1 C T 11: 79,334,976 (GRCm39) P943S probably damaging Het
Obscn T A 11: 58,952,502 (GRCm39) R4153* probably null Het
Oosp2 T C 19: 11,628,899 (GRCm39) I67M probably damaging Het
Or5m13b C A 2: 85,753,891 (GRCm39) S93Y probably damaging Het
Pcdh9 T A 14: 93,564,285 (GRCm39) D1023V probably benign Het
Pcdhb14 T C 18: 37,581,859 (GRCm39) S322P probably damaging Het
Pde2a A G 7: 101,151,231 (GRCm39) D285G probably benign Het
Pde5a G C 3: 122,646,235 (GRCm39) G809R probably damaging Het
Pde5a G T 3: 122,646,236 (GRCm39) G809V probably damaging Het
Pphln1 T C 15: 93,350,010 (GRCm39) V120A probably benign Het
Rictor T C 15: 6,797,576 (GRCm39) S311P probably damaging Het
Rilpl1 T C 5: 124,631,887 (GRCm39) D153G probably damaging Het
Rmdn3 G T 2: 118,978,058 (GRCm39) A181E probably damaging Het
Rnf213 G A 11: 119,301,633 (GRCm39) V369M probably damaging Het
Scyl1 T A 19: 5,810,022 (GRCm39) R601S probably benign Het
Sdcbp G A 4: 6,393,118 (GRCm39) probably null Het
Septin8 A G 11: 53,425,265 (GRCm39) T53A probably damaging Het
Sfpq A G 4: 126,917,462 (GRCm39) probably benign Het
Slc35b3 A G 13: 39,127,134 (GRCm39) Y163H probably damaging Het
Sra1 A G 18: 36,812,048 (GRCm39) probably null Het
Sspo A T 6: 48,457,757 (GRCm39) N3231Y possibly damaging Het
Tcf3 A G 10: 80,253,377 (GRCm39) V218A possibly damaging Het
Tgm3 T C 2: 129,879,404 (GRCm39) V332A possibly damaging Het
Tmprss11f C T 5: 86,739,243 (GRCm39) probably benign Het
Trbv4 A G 6: 41,036,624 (GRCm39) T50A probably benign Het
Trdv2-2 C A 14: 54,198,882 (GRCm39) Y57* probably null Het
Trim50 T C 5: 135,396,147 (GRCm39) V365A possibly damaging Het
Ubash3b T C 9: 40,941,036 (GRCm39) Q245R probably benign Het
Ulk3 T A 9: 57,501,047 (GRCm39) V338E possibly damaging Het
Usf3 A C 16: 44,036,762 (GRCm39) K414T probably damaging Het
Usp48 C T 4: 137,334,068 (GRCm39) R161* probably null Het
Vps18 A T 2: 119,123,787 (GRCm39) D238V probably benign Het
Vps35l T C 7: 118,390,611 (GRCm39) V368A probably damaging Het
Zfp354c T C 11: 50,705,866 (GRCm39) E403G probably benign Het
Zscan18 A G 7: 12,508,072 (GRCm39) V476A 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
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
Predicted Primers PCR Primer
(F):5'- TGCTCTGAATGACTTTGACTGG -3'
(R):5'- AAGGTGGGATCTTCCAAAGC -3'

Sequencing Primer
(F):5'- TGACTGGTGGCTGGCACTC -3'
(R):5'- GTAGGAAGGAAAATGGTCAATTCTC -3'
Posted On 2016-06-06