Incidental Mutation 'R6596:Dsg1c'
ID 526446
Institutional Source Beutler Lab
Gene Symbol Dsg1c
Ensembl Gene ENSMUSG00000034774
Gene Name desmoglein 1 gamma
Synonyms Dsg6
MMRRC Submission 044720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6596 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 20380397-20418088 bp(+) (GRCm39)
Type of Mutation splice site (55 bp from exon)
DNA Base Change (assembly) T to A at 20403581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000054799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054128]
AlphaFold Q7TSF0
Predicted Effect probably null
Transcript: ENSMUST00000054128
SMART Domains Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 70 155 1.7e-16 SMART
CA 179 267 5.2e-24 SMART
CA 290 384 4.5e-8 SMART
Blast:CA 407 488 8e-28 BLAST
low complexity region 491 500 N/A INTRINSIC
low complexity region 528 539 N/A INTRINSIC
low complexity region 545 553 N/A INTRINSIC
Pfam:Cadherin_C 611 732 5.2e-8 PFAM
low complexity region 737 750 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,819,984 (GRCm39) C135S possibly damaging Het
Bag4 C T 8: 26,259,528 (GRCm39) D224N probably damaging Het
Cldn15 T A 5: 137,003,533 (GRCm39) C178* probably null Het
Col7a1 C A 9: 108,783,409 (GRCm39) probably benign Het
Crnn G A 3: 93,054,182 (GRCm39) E22K probably damaging Het
Dcstamp A C 15: 39,617,605 (GRCm39) T5P possibly damaging Het
Dennd4a A G 9: 64,759,702 (GRCm39) Y269C probably damaging Het
Duox2 C T 2: 122,115,819 (GRCm39) V972I probably benign Het
Eif1ad15 C A 12: 88,288,057 (GRCm39) L65F possibly damaging Het
Ephb1 A C 9: 102,072,001 (GRCm39) Y259* probably null Het
Fam149a G T 8: 45,834,667 (GRCm39) T44K probably benign Het
Fn1 A G 1: 71,648,641 (GRCm39) Y1423H probably damaging Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gfm2 C T 13: 97,301,657 (GRCm39) P487S probably damaging Het
Hyou1 A G 9: 44,299,052 (GRCm39) E625G probably benign Het
Kmt5a G A 5: 124,588,759 (GRCm39) V121M probably benign Het
Mindy4 T C 6: 55,201,001 (GRCm39) S229P probably damaging Het
Muc16 T C 9: 18,478,011 (GRCm39) D7098G probably benign Het
Nsf A T 11: 103,801,283 (GRCm39) I244N probably damaging Het
Obox1 C T 7: 15,289,301 (GRCm39) S72L probably damaging Het
Or4b1 T A 2: 89,979,622 (GRCm39) T243S possibly damaging Het
Or5d38 C T 2: 87,954,543 (GRCm39) C262Y probably damaging Het
Pcdhb7 A T 18: 37,476,414 (GRCm39) I517F probably damaging Het
Plk2 C T 13: 110,534,296 (GRCm39) A292V probably benign Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Rasgrf1 A T 9: 89,894,847 (GRCm39) N1089I possibly damaging Het
Robo2 T A 16: 73,767,996 (GRCm39) N603Y probably damaging Het
Slc35f4 G A 14: 49,763,057 (GRCm39) A5V probably damaging Het
Smc4 A T 3: 68,933,226 (GRCm39) I616F probably damaging Het
Sorl1 T G 9: 41,912,899 (GRCm39) N1361H possibly damaging Het
Syngr1 C T 15: 79,995,893 (GRCm39) T144M probably damaging Het
Tbc1d16 A C 11: 119,048,601 (GRCm39) W351G probably damaging Het
Tbx15 A G 3: 99,259,508 (GRCm39) S460G probably benign Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Tpte T C 8: 22,823,285 (GRCm39) L304P probably damaging Het
Tubgcp5 T A 7: 55,456,382 (GRCm39) F325I probably benign Het
Ucp3 A T 7: 100,131,140 (GRCm39) I198F probably benign Het
Vit T C 17: 78,930,274 (GRCm39) V413A probably benign Het
Xrcc6 T C 15: 81,907,155 (GRCm39) M1T probably null Het
Other mutations in Dsg1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Dsg1c APN 18 20,407,733 (GRCm39) missense probably damaging 1.00
IGL00596:Dsg1c APN 18 20,414,899 (GRCm39) splice site probably benign
IGL01412:Dsg1c APN 18 20,380,518 (GRCm39) missense probably benign
IGL02037:Dsg1c APN 18 20,410,007 (GRCm39) missense probably benign 0.02
IGL02247:Dsg1c APN 18 20,397,373 (GRCm39) missense probably damaging 1.00
IGL02386:Dsg1c APN 18 20,410,056 (GRCm39) missense probably benign
IGL02408:Dsg1c APN 18 20,407,776 (GRCm39) missense probably damaging 1.00
IGL02519:Dsg1c APN 18 20,416,790 (GRCm39) missense probably damaging 1.00
IGL02591:Dsg1c APN 18 20,408,249 (GRCm39) missense probably damaging 1.00
IGL02730:Dsg1c APN 18 20,407,887 (GRCm39) missense probably damaging 1.00
IGL02836:Dsg1c APN 18 20,400,986 (GRCm39) missense probably benign 0.07
IGL03335:Dsg1c APN 18 20,416,754 (GRCm39) missense probably benign 0.01
Nancy UTSW 18 20,416,171 (GRCm39) missense probably damaging 1.00
R0385:Dsg1c UTSW 18 20,416,711 (GRCm39) missense probably damaging 1.00
R0561:Dsg1c UTSW 18 20,407,832 (GRCm39) missense probably benign 0.04
R0570:Dsg1c UTSW 18 20,403,435 (GRCm39) missense probably damaging 1.00
R0573:Dsg1c UTSW 18 20,412,298 (GRCm39) missense probably benign 0.02
R0621:Dsg1c UTSW 18 20,412,752 (GRCm39) missense possibly damaging 0.62
R0632:Dsg1c UTSW 18 20,405,403 (GRCm39) splice site probably benign
R1183:Dsg1c UTSW 18 20,416,255 (GRCm39) missense probably damaging 1.00
R1529:Dsg1c UTSW 18 20,415,080 (GRCm39) missense probably damaging 1.00
R1596:Dsg1c UTSW 18 20,415,104 (GRCm39) missense probably damaging 1.00
R1619:Dsg1c UTSW 18 20,397,899 (GRCm39) missense probably benign 0.36
R1623:Dsg1c UTSW 18 20,408,234 (GRCm39) missense probably damaging 1.00
R1844:Dsg1c UTSW 18 20,416,096 (GRCm39) splice site probably null
R1881:Dsg1c UTSW 18 20,405,597 (GRCm39) splice site probably benign
R2017:Dsg1c UTSW 18 20,399,253 (GRCm39) missense possibly damaging 0.67
R2072:Dsg1c UTSW 18 20,408,309 (GRCm39) missense probably benign 0.09
R2319:Dsg1c UTSW 18 20,408,235 (GRCm39) missense probably damaging 1.00
R2340:Dsg1c UTSW 18 20,400,945 (GRCm39) missense probably damaging 1.00
R3403:Dsg1c UTSW 18 20,403,407 (GRCm39) missense probably damaging 1.00
R3407:Dsg1c UTSW 18 20,415,115 (GRCm39) critical splice donor site probably null
R3874:Dsg1c UTSW 18 20,410,109 (GRCm39) missense probably benign 0.02
R3910:Dsg1c UTSW 18 20,399,253 (GRCm39) missense possibly damaging 0.67
R4535:Dsg1c UTSW 18 20,408,322 (GRCm39) missense probably benign 0.01
R4739:Dsg1c UTSW 18 20,408,246 (GRCm39) missense possibly damaging 0.95
R5038:Dsg1c UTSW 18 20,397,901 (GRCm39) missense probably benign 0.00
R5165:Dsg1c UTSW 18 20,410,080 (GRCm39) missense probably damaging 1.00
R5210:Dsg1c UTSW 18 20,407,758 (GRCm39) missense probably damaging 0.97
R5253:Dsg1c UTSW 18 20,405,436 (GRCm39) missense probably damaging 1.00
R5327:Dsg1c UTSW 18 20,400,994 (GRCm39) missense possibly damaging 0.75
R5361:Dsg1c UTSW 18 20,416,703 (GRCm39) missense possibly damaging 0.94
R5475:Dsg1c UTSW 18 20,415,088 (GRCm39) missense probably damaging 0.99
R5512:Dsg1c UTSW 18 20,405,568 (GRCm39) missense probably damaging 1.00
R5681:Dsg1c UTSW 18 20,416,270 (GRCm39) missense probably damaging 1.00
R5710:Dsg1c UTSW 18 20,405,408 (GRCm39) missense probably benign 0.06
R5889:Dsg1c UTSW 18 20,416,658 (GRCm39) missense possibly damaging 0.87
R6513:Dsg1c UTSW 18 20,407,687 (GRCm39) missense probably benign 0.01
R6941:Dsg1c UTSW 18 20,400,980 (GRCm39) missense probably damaging 0.96
R7041:Dsg1c UTSW 18 20,399,201 (GRCm39) missense probably damaging 1.00
R7061:Dsg1c UTSW 18 20,410,066 (GRCm39) missense probably benign
R7240:Dsg1c UTSW 18 20,416,166 (GRCm39) missense probably damaging 1.00
R8048:Dsg1c UTSW 18 20,407,824 (GRCm39) missense probably damaging 1.00
R8092:Dsg1c UTSW 18 20,415,029 (GRCm39) missense probably damaging 1.00
R8103:Dsg1c UTSW 18 20,416,171 (GRCm39) missense probably damaging 1.00
R8117:Dsg1c UTSW 18 20,410,016 (GRCm39) missense probably benign
R8192:Dsg1c UTSW 18 20,399,255 (GRCm39) missense probably damaging 1.00
R8801:Dsg1c UTSW 18 20,410,022 (GRCm39) missense probably benign 0.00
R9059:Dsg1c UTSW 18 20,408,306 (GRCm39) missense probably damaging 1.00
R9152:Dsg1c UTSW 18 20,416,329 (GRCm39) missense probably benign 0.06
R9292:Dsg1c UTSW 18 20,416,775 (GRCm39) missense probably damaging 1.00
R9469:Dsg1c UTSW 18 20,400,947 (GRCm39) missense probably damaging 1.00
R9596:Dsg1c UTSW 18 20,416,361 (GRCm39) missense probably benign 0.17
R9619:Dsg1c UTSW 18 20,416,499 (GRCm39) missense probably damaging 1.00
R9628:Dsg1c UTSW 18 20,397,373 (GRCm39) missense probably damaging 1.00
R9710:Dsg1c UTSW 18 20,410,044 (GRCm39) missense probably benign
X0026:Dsg1c UTSW 18 20,416,315 (GRCm39) missense probably damaging 1.00
Z1176:Dsg1c UTSW 18 20,416,630 (GRCm39) missense probably damaging 1.00
Z1177:Dsg1c UTSW 18 20,398,006 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2018-06-25