Incidental Mutation 'R5253:Dsg1c'
ID 399275
Institutional Source Beutler Lab
Gene Symbol Dsg1c
Ensembl Gene ENSMUSG00000034774
Gene Name desmoglein 1 gamma
Synonyms Dsg6
MMRRC Submission 042824-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5253 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 20380397-20418088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20405436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 283 (L283P)
Ref Sequence ENSEMBL: ENSMUSP00000054799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054128]
AlphaFold Q7TSF0
Predicted Effect probably damaging
Transcript: ENSMUST00000054128
AA Change: L283P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: L283P

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
Meta Mutation Damage Score 0.2846 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik T C 9: 39,962,746 (GRCm39) noncoding transcript Het
Actrt2 A C 4: 154,752,026 (GRCm39) S37A possibly damaging Het
Adcy7 T C 8: 89,040,742 (GRCm39) I327T probably damaging Het
Ankrd13b A G 11: 77,364,061 (GRCm39) probably benign Het
Arap1 A C 7: 101,037,851 (GRCm39) I237L probably benign Het
Arhgap17 A T 7: 122,902,971 (GRCm39) Y359N probably benign Het
Atad1 A G 19: 32,651,702 (GRCm39) M343T probably benign Het
Cacna1b A T 2: 24,609,964 (GRCm39) I392N probably damaging Het
Cacna1c A G 6: 118,574,930 (GRCm39) S1914P probably benign Het
Cd300a G T 11: 114,785,577 (GRCm39) R174L probably benign Het
Dip2a G A 10: 76,135,831 (GRCm39) P356L probably damaging Het
Dusp1 T C 17: 26,727,191 (GRCm39) N36S probably benign Het
Dync2i2 T A 2: 29,922,375 (GRCm39) probably benign Het
Ercc3 C A 18: 32,402,917 (GRCm39) P776Q probably damaging Het
Etv1 A G 12: 38,902,248 (GRCm39) R260G possibly damaging Het
Fa2h C G 8: 112,075,869 (GRCm39) M251I probably benign Het
Fcsk T C 8: 111,610,499 (GRCm39) E968G possibly damaging Het
Flg2 A G 3: 93,108,119 (GRCm39) D49G probably damaging Het
Fras1 A G 5: 96,888,884 (GRCm39) E2810G probably damaging Het
Gabbr1 T C 17: 37,366,805 (GRCm39) F343S possibly damaging Het
Gdf2 A G 14: 33,667,264 (GRCm39) T329A probably benign Het
Hcn4 T A 9: 58,731,558 (GRCm39) I255N unknown Het
Hk3 T G 13: 55,158,824 (GRCm39) D485A probably damaging Het
Hook3 T C 8: 26,562,319 (GRCm39) T249A probably benign Het
Kcp C T 6: 29,498,519 (GRCm39) probably benign Het
Kifc2 G T 15: 76,550,481 (GRCm39) R515L possibly damaging Het
Kiss1r A G 10: 79,756,584 (GRCm39) Y142C probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klrb1a T A 6: 128,596,126 (GRCm39) I72L probably benign Het
Lep T A 6: 29,070,862 (GRCm39) F62Y probably damaging Het
Lrtm1 A G 14: 28,743,801 (GRCm39) T90A probably benign Het
Mug1 A T 6: 121,865,872 (GRCm39) D1472V probably benign Het
Ncor2 G T 5: 125,103,994 (GRCm39) P1988Q probably benign Het
Nlrp4a C T 7: 26,149,917 (GRCm39) S508L probably benign Het
Obp2b T A 2: 25,627,155 (GRCm39) D29E probably benign Het
Or10ag2 G A 2: 87,249,012 (GRCm39) V207M possibly damaging Het
Or4c109 A G 2: 88,818,444 (GRCm39) L34P possibly damaging Het
Or4c119 A T 2: 88,986,801 (GRCm39) C239* probably null Het
Or4k15b T C 14: 50,272,745 (GRCm39) I38M possibly damaging Het
Or6c3b A G 10: 129,527,601 (GRCm39) I103T probably damaging Het
Otof A G 5: 30,527,483 (GRCm39) S1985P probably damaging Het
Oxct2a A T 4: 123,216,886 (GRCm39) V165E probably damaging Het
Pcdhgb7 T C 18: 37,886,150 (GRCm39) V440A possibly damaging Het
Pelp1 C A 11: 70,292,487 (GRCm39) G211C probably damaging Het
Phox2a A G 7: 101,471,312 (GRCm39) H268R probably benign Het
Pik3c2g T C 6: 139,841,983 (GRCm39) probably null Het
Pramel1 T A 4: 143,125,156 (GRCm39) M360K probably benign Het
Rbm6 C T 9: 107,729,856 (GRCm39) R132K probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc45a1 T C 4: 150,722,727 (GRCm39) T386A probably damaging Het
Smad2 A G 18: 76,421,124 (GRCm39) Y151C probably damaging Het
Sptbn2 G A 19: 4,800,110 (GRCm39) G2188D probably benign Het
Sugt1 G A 14: 79,840,341 (GRCm39) probably null Het
Tctn3 T C 19: 40,595,685 (GRCm39) S367G probably benign Het
Tead1 G T 7: 112,460,752 (GRCm39) D219Y probably damaging Het
Tenm2 G T 11: 35,938,028 (GRCm39) Y1548* probably null Het
Tenm3 T A 8: 48,682,233 (GRCm39) I2466F possibly damaging Het
Tent4b C A 8: 88,926,651 (GRCm39) H20Q possibly damaging Het
Tgm2 G A 2: 157,971,358 (GRCm39) P294S probably damaging Het
Tns2 T C 15: 102,019,888 (GRCm39) S585P probably damaging Het
Ttc41 A G 10: 86,566,806 (GRCm39) K491E probably benign Het
Ttn G A 2: 76,621,895 (GRCm39) T15549I probably damaging Het
Vmn1r157 T C 7: 22,461,183 (GRCm39) L21P probably damaging Het
Vmn2r81 A G 10: 79,083,820 (GRCm39) M65V probably benign Het
Zcchc14 T C 8: 122,345,433 (GRCm39) probably benign 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
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
R6596:Dsg1c UTSW 18 20,403,581 (GRCm39) splice site probably null
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 PCR Primer
(F):5'- TTTCACAGTGGGAAAAGTGGATTTG -3'
(R):5'- ATGCTTTCACCAAACCTGATG -3'

Sequencing Primer
(F):5'- GAAAAGTGGATTTGAGCAAAGTATG -3'
(R):5'- CTTGATGTTGTGAAATAGAAAAGACC -3'
Posted On 2016-07-06