Incidental Mutation 'IGL02553:Dsg4'
ID298550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsg4
Ensembl Gene ENSMUSG00000001804
Gene Namedesmoglein 4
Synonymslah, CDHF13
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.646) question?
Stock #IGL02553
Quality Score
Status
Chromosome18
Chromosomal Location20436175-20471821 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 20462520 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 593 (H593Q)
Ref Sequence ENSEMBL: ENSMUSP00000019426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019426]
Predicted Effect probably benign
Transcript: ENSMUST00000019426
AA Change: H593Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: H593Q

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
Coding Region Coverage
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. 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,351,924 S1326P probably damaging Het
Alpk1 A T 3: 127,673,321 L1103Q probably damaging Het
Arhgap11a A C 2: 113,837,561 probably benign Het
Arl6ip6 A G 2: 53,192,214 Y31C possibly damaging Het
Arpin G T 7: 79,927,647 D217E possibly damaging Het
Atp13a4 C T 16: 29,422,703 V735I probably benign Het
Ccdc146 A T 5: 21,297,633 F753L probably benign Het
Cdh3 T A 8: 106,544,248 L511* probably null Het
Chrna1 A T 2: 73,566,862 I361N possibly damaging Het
Clk2 G A 3: 89,175,713 R432H probably damaging Het
Col9a1 T C 1: 24,221,937 probably benign Het
Cstf1 G T 2: 172,377,854 R295L probably benign Het
Dsg2 A G 18: 20,592,410 D526G probably damaging Het
Dysf T C 6: 84,130,127 Y1171H possibly damaging Het
Erbb4 A G 1: 68,305,864 L566P probably benign Het
Fam185a T A 5: 21,455,831 D281E probably damaging Het
Fam185a T A 5: 21,429,841 probably benign Het
Fam91a1 T A 15: 58,432,982 probably null Het
Fat2 A G 11: 55,311,283 W322R probably damaging Het
Fbxw8 T A 5: 118,066,060 probably benign Het
Ganc A G 2: 120,458,134 T874A probably benign Het
Gm3543 T C 14: 41,980,091 I145M probably benign Het
Gtf2i G A 5: 134,245,161 T712I probably damaging Het
Hk1 A G 10: 62,295,773 S268P possibly damaging Het
Hmcn1 A G 1: 150,993,023 V10A probably benign Het
Hsd17b4 C T 18: 50,162,097 probably benign Het
Ighv1-75 A T 12: 115,834,105 W66R probably damaging Het
Kif21b G T 1: 136,154,121 D636Y probably damaging Het
Kif5b A T 18: 6,220,914 I398N probably benign Het
Metap2 T C 10: 93,865,449 M165V probably damaging Het
Mterf2 A C 10: 85,120,467 L98V probably damaging Het
Muc16 A G 9: 18,498,553 probably null Het
Myo3b A G 2: 70,095,224 M12V probably benign Het
Nat10 C A 2: 103,752,668 R136I probably damaging Het
Nsd2 T G 5: 33,846,198 S231A probably damaging Het
Olfr1243 T C 2: 89,527,931 T160A probably benign Het
Olfr1281 A T 2: 111,328,988 M190L probably benign Het
Pcdhb14 T A 18: 37,448,018 L59* probably null Het
Pias4 A G 10: 81,163,787 L144P probably damaging Het
Plxna2 T A 1: 194,751,438 N598K probably benign Het
Polq A G 16: 37,041,768 Y550C probably damaging Het
Pot1b T A 17: 55,695,024 probably benign Het
Proz T C 8: 13,065,260 V92A probably benign Het
Rab4a T C 8: 123,823,822 F14L probably benign Het
Riok3 T A 18: 12,143,016 C256* probably null Het
Slc6a1 T A 6: 114,302,490 probably benign Het
Socs5 C T 17: 87,134,991 T453M probably damaging Het
Spata3 T C 1: 86,024,489 L135P probably damaging Het
Spata46 A G 1: 170,311,965 K178E probably damaging Het
Spr T C 6: 85,137,448 N100D probably damaging Het
Srrm4 C T 5: 116,444,565 probably benign Het
Stard3 T C 11: 98,376,563 F169S possibly damaging Het
Tbx1 T A 16: 18,584,097 D222V probably damaging Het
Trbv23 C T 6: 41,216,345 Q56* probably null Het
Tsc22d1 A G 14: 76,417,398 N357S possibly damaging Het
Ugt1a6a C T 1: 88,139,089 P206S probably benign Het
Utp20 A G 10: 88,764,795 V19A probably damaging Het
Vps13b A G 15: 35,646,301 N1517S probably benign Het
Washc2 T C 6: 116,241,610 I672T probably damaging Het
Other mutations in Dsg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Dsg4 APN 18 20461326 missense probably benign 0.22
IGL01723:Dsg4 APN 18 20466510 missense probably damaging 1.00
IGL02249:Dsg4 APN 18 20461304 missense possibly damaging 0.69
IGL02445:Dsg4 APN 18 20446250 splice site probably benign
IGL02578:Dsg4 APN 18 20471193 missense possibly damaging 0.94
IGL02634:Dsg4 APN 18 20458580 missense probably benign 0.01
IGL02677:Dsg4 APN 18 20464876 missense possibly damaging 0.62
IGL02741:Dsg4 APN 18 20471496 missense probably benign
IGL02747:Dsg4 APN 18 20446938 missense probably damaging 0.97
IGL03342:Dsg4 APN 18 20451823 missense probably damaging 1.00
burrito UTSW 18 20451862 missense possibly damaging 0.81
R0043:Dsg4 UTSW 18 20452972 missense probably damaging 1.00
R0375:Dsg4 UTSW 18 20470879 missense probably damaging 1.00
R0537:Dsg4 UTSW 18 20458571 missense probably damaging 1.00
R0619:Dsg4 UTSW 18 20461359 missense probably benign 0.00
R0622:Dsg4 UTSW 18 20449788 missense possibly damaging 0.51
R0765:Dsg4 UTSW 18 20454646 splice site probably benign
R0786:Dsg4 UTSW 18 20449372 critical splice donor site probably null
R1114:Dsg4 UTSW 18 20466483 missense possibly damaging 0.62
R1249:Dsg4 UTSW 18 20446872 nonsense probably null
R1372:Dsg4 UTSW 18 20449676 splice site probably null
R1382:Dsg4 UTSW 18 20465124 missense probably benign 0.00
R1392:Dsg4 UTSW 18 20446247 splice site probably benign
R1442:Dsg4 UTSW 18 20462660 missense possibly damaging 0.76
R1503:Dsg4 UTSW 18 20449679 missense probably damaging 1.00
R1704:Dsg4 UTSW 18 20471589 missense probably damaging 1.00
R1716:Dsg4 UTSW 18 20462461 nonsense probably null
R1765:Dsg4 UTSW 18 20456831 missense probably benign 0.01
R1817:Dsg4 UTSW 18 20471245 missense probably damaging 1.00
R1982:Dsg4 UTSW 18 20471212 missense probably damaging 1.00
R2025:Dsg4 UTSW 18 20466636 nonsense probably null
R2097:Dsg4 UTSW 18 20471044 missense probably damaging 1.00
R2198:Dsg4 UTSW 18 20461442 missense probably benign
R3551:Dsg4 UTSW 18 20451756 missense probably damaging 1.00
R3742:Dsg4 UTSW 18 20471001 missense probably damaging 1.00
R3853:Dsg4 UTSW 18 20449234 missense probably benign
R3955:Dsg4 UTSW 18 20449375 splice site probably null
R4006:Dsg4 UTSW 18 20470965 missense probably damaging 0.97
R4012:Dsg4 UTSW 18 20451862 missense possibly damaging 0.81
R4171:Dsg4 UTSW 18 20458579 nonsense probably null
R4254:Dsg4 UTSW 18 20471538 missense probably benign 0.07
R4504:Dsg4 UTSW 18 20461436 missense probably benign 0.00
R4559:Dsg4 UTSW 18 20470921 missense probably damaging 1.00
R4607:Dsg4 UTSW 18 20471245 missense probably damaging 1.00
R4612:Dsg4 UTSW 18 20462413 missense probably benign 0.10
R4683:Dsg4 UTSW 18 20461409 missense probably benign
R4700:Dsg4 UTSW 18 20456908 missense possibly damaging 0.91
R4749:Dsg4 UTSW 18 20446831 missense possibly damaging 0.88
R4775:Dsg4 UTSW 18 20471127 missense possibly damaging 0.48
R4809:Dsg4 UTSW 18 20466621 missense possibly damaging 0.82
R5276:Dsg4 UTSW 18 20446839 missense probably benign 0.21
R5426:Dsg4 UTSW 18 20458484 missense probably damaging 1.00
R5767:Dsg4 UTSW 18 20462492 nonsense probably null
R5982:Dsg4 UTSW 18 20465169 missense possibly damaging 0.76
R6280:Dsg4 UTSW 18 20466667 missense probably damaging 1.00
R6305:Dsg4 UTSW 18 20449790 missense probably damaging 1.00
R6489:Dsg4 UTSW 18 20471363 missense possibly damaging 0.93
R7013:Dsg4 UTSW 18 20458521 missense possibly damaging 0.58
R7040:Dsg4 UTSW 18 20451852 missense probably benign 0.01
R7196:Dsg4 UTSW 18 20466480 missense probably damaging 1.00
R7432:Dsg4 UTSW 18 20446266 nonsense probably null
R7438:Dsg4 UTSW 18 20466628 missense probably damaging 0.96
R7490:Dsg4 UTSW 18 20451936 intron probably null
R7612:Dsg4 UTSW 18 20470990 missense probably damaging 1.00
R7639:Dsg4 UTSW 18 20449712 missense probably damaging 1.00
R7905:Dsg4 UTSW 18 20454669 missense probably damaging 1.00
R7988:Dsg4 UTSW 18 20454669 missense probably damaging 1.00
Posted On2015-04-16