Incidental Mutation 'R5808:Dsc1'
ID 448870
Institutional Source Beutler Lab
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 # R5808 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20217241-20247928 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 20219886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 761 (C761*)
Ref Sequence ENSEMBL: ENSMUSP00000153639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038710] [ENSMUST00000224432]
AlphaFold P55849
Predicted Effect probably null
Transcript: ENSMUST00000038710
AA Change: C761*
SMART Domains Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: C761*

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 null
Transcript: ENSMUST00000224432
AA Change: C761*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224557
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C T 10: 76,286,482 (GRCm39) R6W probably damaging Het
Ahnak T A 19: 8,987,599 (GRCm39) V2961E possibly damaging Het
Aldh1a7 A T 19: 20,685,561 (GRCm39) Y330N possibly damaging Het
Bag6 A G 17: 35,365,298 (GRCm39) Y1041C probably damaging Het
Baz1b T A 5: 135,250,812 (GRCm39) V866E probably benign Het
Bmpr2 A T 1: 59,906,560 (GRCm39) Y551F probably benign Het
Cage1 A G 13: 38,206,301 (GRCm39) probably benign Het
Caskin2 G T 11: 115,692,589 (GRCm39) P732Q probably damaging Het
Cbfa2t2 T C 2: 154,359,746 (GRCm39) probably null Het
Ccdc162 A T 10: 41,531,500 (GRCm39) M502K possibly damaging Het
Cfap157 T C 2: 32,670,657 (GRCm39) D197G probably damaging Het
CN725425 T A 15: 91,129,847 (GRCm39) S237T probably benign Het
Defb40 T C 8: 19,025,095 (GRCm39) H37R probably benign Het
Dis3l2 A C 1: 86,977,360 (GRCm39) S836R possibly damaging Het
Dnah14 T C 1: 181,568,724 (GRCm39) I2818T possibly damaging Het
Dpysl2 T A 14: 67,102,621 (GRCm39) probably null Het
Dsg1b A T 18: 20,541,782 (GRCm39) D763V probably damaging Het
Eif2ak1 C T 5: 143,820,812 (GRCm39) P251L probably benign Het
Epha6 A T 16: 59,503,105 (GRCm39) I934K probably damaging Het
Fbxo40 T C 16: 36,790,744 (GRCm39) E122G probably damaging Het
Filip1 C T 9: 79,725,983 (GRCm39) G879R possibly damaging Het
Frem2 A T 3: 53,559,984 (GRCm39) F1508I probably damaging Het
Gja1 A G 10: 56,264,594 (GRCm39) N318D probably benign Het
Gm11564 T C 11: 99,705,867 (GRCm39) S188G unknown Het
Hlcs A G 16: 94,063,491 (GRCm39) V523A probably benign Het
Kif1a C A 1: 92,970,420 (GRCm39) E1041D probably damaging Het
Lamtor1 A G 7: 101,559,289 (GRCm39) Y81C possibly damaging Het
Loxl1 A G 9: 58,201,732 (GRCm39) L453S probably damaging Het
Mcf2l A G 8: 13,043,937 (GRCm39) M1V probably null Het
Megf6 A G 4: 154,352,119 (GRCm39) Q1208R probably benign Het
Morc2a T A 11: 3,633,781 (GRCm39) I631N probably benign Het
Muc6 T C 7: 141,226,360 (GRCm39) probably benign Het
Mybpc1 T C 10: 88,406,428 (GRCm39) S139G possibly damaging Het
Myo18a T C 11: 77,720,127 (GRCm39) F1017L probably benign Het
Nup62 A C 7: 44,479,416 (GRCm39) Q477P possibly damaging Het
P2ry13 T A 3: 59,117,653 (GRCm39) I42F probably benign Het
Ptprb G A 10: 116,175,392 (GRCm39) R1129K probably benign Het
Rexo4 T A 2: 26,854,197 (GRCm39) K45I probably damaging Het
Rnf213 G A 11: 119,327,121 (GRCm39) V1703I probably benign Het
Sec23ip C A 7: 128,373,908 (GRCm39) A710E probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc41a2 T C 10: 83,149,362 (GRCm39) T194A probably benign Het
Slc4a10 G A 2: 62,080,816 (GRCm39) A348T probably damaging Het
Soat2 G A 15: 102,062,460 (GRCm39) probably null Het
Srms T C 2: 180,850,548 (GRCm39) S204G probably benign Het
Szt2 G A 4: 118,229,810 (GRCm39) R2774C unknown Het
Tcf7l2 T C 19: 55,896,973 (GRCm39) V182A probably damaging Het
Tmem167b C T 3: 108,467,559 (GRCm39) R29H probably benign Het
Trappc12 T A 12: 28,796,863 (GRCm39) D223V probably damaging Het
Ttc6 T A 12: 57,664,397 (GRCm39) S383R possibly damaging Het
Ubr1 C T 2: 120,791,573 (GRCm39) R137H possibly damaging Het
Vmn2r24 T A 6: 123,792,597 (GRCm39) C641* probably null Het
Vrk3 A G 7: 44,409,298 (GRCm39) D155G probably damaging Het
Xxylt1 T C 16: 30,869,503 (GRCm39) Y199C probably damaging Het
Zbtb46 A T 2: 181,065,363 (GRCm39) D262E probably benign Het
Zcchc9 A T 13: 91,948,766 (GRCm39) S58T probably benign Het
Zfp747l1 A T 7: 126,984,085 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,631,563 (GRCm39) L1344* probably null 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
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'- CAGAGTGGGCACTTGAAGACTG -3'
(R):5'- ACAGAGTTTGGCCCACAATATC -3'

Sequencing Primer
(F):5'- TTACTTCACCAAGCCGAGGTTGAG -3'
(R):5'- GTTTGGCCCACAATATCTATGTTATG -3'
Posted On 2016-12-15