Incidental Mutation 'R8911:Dsg4'
ID 678660
Institutional Source Beutler Lab
Gene Symbol Dsg4
Ensembl Gene ENSMUSG00000001804
Gene Name desmoglein 4
Synonyms CDHF13, lah
MMRRC Submission 068764-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.507) question?
Stock # R8911 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 20569232-20604878 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 20584929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 214 (Y214*)
Ref Sequence ENSEMBL: ENSMUSP00000019426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019426]
AlphaFold Q7TMD7
Predicted Effect probably null
Transcript: ENSMUST00000019426
AA Change: Y214*
SMART Domains Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: Y214*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
CA 70 155 1.54e-11 SMART
CA 179 267 4.27e-19 SMART
CA 290 384 5.48e-8 SMART
CA 411 495 9.4e-7 SMART
transmembrane domain 634 656 N/A INTRINSIC
low complexity region 724 736 N/A INTRINSIC
Pfam:Cadherin_C 749 849 3.1e-8 PFAM
Meta Mutation Damage Score 0.9667 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (76/76)
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. This gene is expressed in the suprabasal epidermis and hair follicle. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Certain mutations in this gene are responsible for the lanceolate hair phenotype in mice. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice carrying mutations at this locus exhibit abnormalities in hair growth, vibrissae growth, and a thickened epidermis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
3425401B19Rik A T 14: 32,383,626 (GRCm39) C780S possibly damaging Het
Abca12 T C 1: 71,380,690 (GRCm39) D306G probably benign Het
Adgrl2 T C 3: 148,558,163 (GRCm39) probably benign Het
Agt T C 8: 125,291,184 (GRCm39) Y41C probably benign Het
Alx3 G T 3: 107,511,603 (GRCm39) R204L probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Bcl11a C T 11: 24,114,763 (GRCm39) P702L probably damaging Het
Bpifa2 A G 2: 153,851,090 (GRCm39) N17S probably benign Het
Cabcoco1 T C 10: 68,377,584 (GRCm39) D35G probably benign Het
Cd69 T C 6: 129,252,187 (GRCm39) K21R probably benign Het
Cdhr18 T C 14: 13,823,796 (GRCm38) probably null Het
Cntn4 T C 6: 106,330,743 (GRCm39) probably null Het
Cntnap5c A C 17: 58,506,043 (GRCm39) N689T probably damaging Het
Cog5 A G 12: 31,883,238 (GRCm39) Y389C probably damaging Het
Col5a1 T C 2: 27,887,630 (GRCm39) probably null Het
Coro1b G A 19: 4,200,803 (GRCm39) R245Q probably damaging Het
Csmd1 T C 8: 16,748,019 (GRCm39) D244G probably damaging Het
Ctcfl C T 2: 172,937,121 (GRCm39) probably null Het
Dpy19l4 G A 4: 11,317,078 (GRCm39) P40L possibly damaging Het
Eapp A T 12: 54,739,440 (GRCm39) probably benign Het
Fmo6 T C 1: 162,748,114 (GRCm39) T317A possibly damaging Het
Gm11595 A G 11: 99,663,564 (GRCm39) C39R unknown Het
Golim4 T C 3: 75,813,703 (GRCm39) probably benign Het
Greb1 G A 12: 16,740,903 (GRCm39) S1393L possibly damaging Het
Guca1b A G 17: 47,700,044 (GRCm39) I73V probably benign Het
Hdac7 C T 15: 97,694,789 (GRCm39) V796I possibly damaging Het
Hectd1 A G 12: 51,795,616 (GRCm39) I2271T probably damaging Het
Heg1 T G 16: 33,558,627 (GRCm39) Y1066* probably null Het
Helz2 C A 2: 180,880,173 (GRCm39) K514N Het
Ice1 C T 13: 70,740,787 (GRCm39) R70Q Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Itgae A G 11: 73,004,447 (GRCm39) T245A probably damaging Het
Jhy G A 9: 40,822,453 (GRCm39) Q562* probably null Het
Khnyn A G 14: 56,124,735 (GRCm39) R330G probably benign Het
Lamc2 A T 1: 153,027,873 (GRCm39) C184S probably damaging Het
Lhx5 T A 5: 120,574,509 (GRCm39) L271* probably null Het
Magel2 G A 7: 62,029,537 (GRCm39) V814M unknown Het
Manf A G 9: 106,767,461 (GRCm39) I85T possibly damaging Het
Mgmt A G 7: 136,729,794 (GRCm39) T203A probably benign Het
Mmp9 C T 2: 164,794,568 (GRCm39) S520F possibly damaging Het
Myrip A G 9: 120,270,484 (GRCm39) E578G possibly damaging Het
Naaladl2 A G 3: 23,900,757 (GRCm39) M691T probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4c112 T C 2: 88,854,294 (GRCm39) N18D probably benign Het
Or4c117 T C 2: 88,955,608 (GRCm39) I156V probably benign Het
Pcdhga12 A T 18: 37,900,118 (GRCm39) M317L possibly damaging Het
Pcnt T G 10: 76,223,359 (GRCm39) K1941T probably damaging Het
Pde4dip A T 3: 97,650,917 (GRCm39) M896K probably benign Het
Pfkfb3 A T 2: 11,487,254 (GRCm39) probably null Het
Pik3cb A G 9: 98,946,201 (GRCm39) S542P probably benign Het
Pik3cg A G 12: 32,247,257 (GRCm39) V822A probably benign Het
Plcl2 G T 17: 50,915,141 (GRCm39) G717C probably damaging Het
Ptprs C T 17: 56,730,320 (GRCm39) A1185T probably benign Het
Ptpru T A 4: 131,503,560 (GRCm39) I1157F probably damaging Het
Rbbp6 A G 7: 122,591,268 (GRCm39) T457A possibly damaging Het
Rdh16f2 A G 10: 127,712,812 (GRCm39) E270G probably damaging Het
Rrp15 C T 1: 186,453,641 (GRCm39) E269K unknown Het
Sec23b T C 2: 144,401,316 (GRCm39) V59A probably benign Het
Slc22a21 A T 11: 53,846,809 (GRCm39) probably null Het
Sp5 C A 2: 70,306,962 (GRCm39) P216T probably benign Het
Synj1 A T 16: 90,775,622 (GRCm39) D385E probably damaging Het
Trim37 C T 11: 87,097,629 (GRCm39) S808F possibly damaging Het
Tsks A T 7: 44,592,694 (GRCm39) probably benign Het
Upf1 A T 8: 70,791,087 (GRCm39) S563T possibly damaging Het
Upf2 A G 2: 5,987,893 (GRCm39) D580G unknown Het
Usp14 A G 18: 9,996,194 (GRCm39) I462T probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn1r184 C G 7: 25,966,310 (GRCm39) Q19E possibly damaging Het
Vps50 C A 6: 3,516,710 (GRCm39) A64E probably benign Het
Zc3h11a T A 1: 133,566,339 (GRCm39) N211I probably damaging Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfp729a A T 13: 67,768,061 (GRCm39) S723T probably benign Het
Zmynd12 A T 4: 119,294,286 (GRCm39) I88F probably damaging Het
Other mutations in Dsg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Dsg4 APN 18 20,594,383 (GRCm39) missense probably benign 0.22
IGL01723:Dsg4 APN 18 20,599,567 (GRCm39) missense probably damaging 1.00
IGL02249:Dsg4 APN 18 20,594,361 (GRCm39) missense possibly damaging 0.69
IGL02445:Dsg4 APN 18 20,579,307 (GRCm39) splice site probably benign
IGL02553:Dsg4 APN 18 20,595,577 (GRCm39) missense probably benign
IGL02578:Dsg4 APN 18 20,604,250 (GRCm39) missense possibly damaging 0.94
IGL02634:Dsg4 APN 18 20,591,637 (GRCm39) missense probably benign 0.01
IGL02677:Dsg4 APN 18 20,597,933 (GRCm39) missense possibly damaging 0.62
IGL02741:Dsg4 APN 18 20,604,553 (GRCm39) missense probably benign
IGL02747:Dsg4 APN 18 20,579,995 (GRCm39) missense probably damaging 0.97
IGL03342:Dsg4 APN 18 20,584,880 (GRCm39) missense probably damaging 1.00
burrito UTSW 18 20,584,919 (GRCm39) missense possibly damaging 0.81
woodshed UTSW 18 20,584,929 (GRCm39) nonsense probably null
R0043:Dsg4 UTSW 18 20,586,029 (GRCm39) missense probably damaging 1.00
R0375:Dsg4 UTSW 18 20,603,936 (GRCm39) missense probably damaging 1.00
R0537:Dsg4 UTSW 18 20,591,628 (GRCm39) missense probably damaging 1.00
R0619:Dsg4 UTSW 18 20,594,416 (GRCm39) missense probably benign 0.00
R0622:Dsg4 UTSW 18 20,582,845 (GRCm39) missense possibly damaging 0.51
R0765:Dsg4 UTSW 18 20,587,703 (GRCm39) splice site probably benign
R0786:Dsg4 UTSW 18 20,582,429 (GRCm39) critical splice donor site probably null
R1114:Dsg4 UTSW 18 20,599,540 (GRCm39) missense possibly damaging 0.62
R1249:Dsg4 UTSW 18 20,579,929 (GRCm39) nonsense probably null
R1372:Dsg4 UTSW 18 20,582,733 (GRCm39) splice site probably null
R1382:Dsg4 UTSW 18 20,598,181 (GRCm39) missense probably benign 0.00
R1392:Dsg4 UTSW 18 20,579,304 (GRCm39) splice site probably benign
R1442:Dsg4 UTSW 18 20,595,717 (GRCm39) missense possibly damaging 0.76
R1503:Dsg4 UTSW 18 20,582,736 (GRCm39) missense probably damaging 1.00
R1704:Dsg4 UTSW 18 20,604,646 (GRCm39) missense probably damaging 1.00
R1716:Dsg4 UTSW 18 20,595,518 (GRCm39) nonsense probably null
R1765:Dsg4 UTSW 18 20,589,888 (GRCm39) missense probably benign 0.01
R1817:Dsg4 UTSW 18 20,604,302 (GRCm39) missense probably damaging 1.00
R1982:Dsg4 UTSW 18 20,604,269 (GRCm39) missense probably damaging 1.00
R2025:Dsg4 UTSW 18 20,599,693 (GRCm39) nonsense probably null
R2097:Dsg4 UTSW 18 20,604,101 (GRCm39) missense probably damaging 1.00
R2198:Dsg4 UTSW 18 20,594,499 (GRCm39) missense probably benign
R3551:Dsg4 UTSW 18 20,584,813 (GRCm39) missense probably damaging 1.00
R3742:Dsg4 UTSW 18 20,604,058 (GRCm39) missense probably damaging 1.00
R3853:Dsg4 UTSW 18 20,582,291 (GRCm39) missense probably benign
R3955:Dsg4 UTSW 18 20,582,432 (GRCm39) splice site probably null
R4006:Dsg4 UTSW 18 20,604,022 (GRCm39) missense probably damaging 0.97
R4012:Dsg4 UTSW 18 20,584,919 (GRCm39) missense possibly damaging 0.81
R4171:Dsg4 UTSW 18 20,591,636 (GRCm39) nonsense probably null
R4254:Dsg4 UTSW 18 20,604,595 (GRCm39) missense probably benign 0.07
R4504:Dsg4 UTSW 18 20,594,493 (GRCm39) missense probably benign 0.00
R4559:Dsg4 UTSW 18 20,603,978 (GRCm39) missense probably damaging 1.00
R4607:Dsg4 UTSW 18 20,604,302 (GRCm39) missense probably damaging 1.00
R4612:Dsg4 UTSW 18 20,595,470 (GRCm39) missense probably benign 0.10
R4683:Dsg4 UTSW 18 20,594,466 (GRCm39) missense probably benign
R4700:Dsg4 UTSW 18 20,589,965 (GRCm39) missense possibly damaging 0.91
R4749:Dsg4 UTSW 18 20,579,888 (GRCm39) missense possibly damaging 0.88
R4775:Dsg4 UTSW 18 20,604,184 (GRCm39) missense possibly damaging 0.48
R4809:Dsg4 UTSW 18 20,599,678 (GRCm39) missense possibly damaging 0.82
R5276:Dsg4 UTSW 18 20,579,896 (GRCm39) missense probably benign 0.21
R5426:Dsg4 UTSW 18 20,591,541 (GRCm39) missense probably damaging 1.00
R5767:Dsg4 UTSW 18 20,595,549 (GRCm39) nonsense probably null
R5982:Dsg4 UTSW 18 20,598,226 (GRCm39) missense possibly damaging 0.76
R6280:Dsg4 UTSW 18 20,599,724 (GRCm39) missense probably damaging 1.00
R6305:Dsg4 UTSW 18 20,582,847 (GRCm39) missense probably damaging 1.00
R6489:Dsg4 UTSW 18 20,604,420 (GRCm39) missense possibly damaging 0.93
R7013:Dsg4 UTSW 18 20,591,578 (GRCm39) missense possibly damaging 0.58
R7040:Dsg4 UTSW 18 20,584,909 (GRCm39) missense probably benign 0.01
R7196:Dsg4 UTSW 18 20,599,537 (GRCm39) missense probably damaging 1.00
R7432:Dsg4 UTSW 18 20,579,323 (GRCm39) nonsense probably null
R7438:Dsg4 UTSW 18 20,599,685 (GRCm39) missense probably damaging 0.96
R7490:Dsg4 UTSW 18 20,584,993 (GRCm39) splice site probably null
R7612:Dsg4 UTSW 18 20,604,047 (GRCm39) missense probably damaging 1.00
R7639:Dsg4 UTSW 18 20,582,769 (GRCm39) missense probably damaging 1.00
R7905:Dsg4 UTSW 18 20,587,726 (GRCm39) missense probably damaging 1.00
R8251:Dsg4 UTSW 18 20,604,221 (GRCm39) missense probably damaging 1.00
R8326:Dsg4 UTSW 18 20,582,788 (GRCm39) missense probably benign 0.31
R8554:Dsg4 UTSW 18 20,586,100 (GRCm39) missense probably damaging 1.00
R9059:Dsg4 UTSW 18 20,604,182 (GRCm39) missense possibly damaging 0.62
R9508:Dsg4 UTSW 18 20,604,070 (GRCm39) missense probably damaging 1.00
R9607:Dsg4 UTSW 18 20,586,047 (GRCm39) missense probably benign 0.00
R9765:Dsg4 UTSW 18 20,604,334 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TTTTATACCTAATGCCTGGAGGG -3'
(R):5'- AGGTGCATAAAACGAAATCTGTATC -3'

Sequencing Primer
(F):5'- ATGCCTGGAGGGATTGAATC -3'
(R):5'- TAAAACGAAATCTGTATCACTGACC -3'
Posted On 2021-08-02