Incidental Mutation 'IGL00966:Dsg3'
ID 29443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsg3
Ensembl Gene ENSMUSG00000056632
Gene Name desmoglein 3
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.427) question?
Stock # IGL00966
Quality Score
Status
Chromosome 18
Chromosomal Location 20643331-20674367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20656664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 178 (I178N)
Ref Sequence ENSEMBL: ENSMUSP00000064718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070892]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070892
AA Change: I178N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632
AA Change: I178N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 70 155 3.9e-13 SMART
CA 179 265 2.36e-21 SMART
CA 288 382 1.55e-7 SMART
CA 409 493 6.15e-11 SMART
low complexity region 615 638 N/A INTRINSIC
low complexity region 643 657 N/A INTRINSIC
low complexity region 725 736 N/A INTRINSIC
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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Mice lacking the encoded protein exhibit loss of keratinocyte cell adhesion resulting in a phenotype that resembles that of patients with pemphigus vulgaris. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutants display runting from decreased food intake due to oropharyngeal epithelial lesions, blisters around snout and eyes, hair loss by weaning, and hair regrowth with bald patches throughout life. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Dsg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Dsg3 APN 18 20,672,711 (GRCm39) missense probably damaging 1.00
IGL00697:Dsg3 APN 18 20,657,746 (GRCm39) critical splice donor site probably null
IGL01352:Dsg3 APN 18 20,656,753 (GRCm39) missense probably benign 0.25
IGL01953:Dsg3 APN 18 20,658,361 (GRCm39) missense probably damaging 1.00
IGL02385:Dsg3 APN 18 20,660,771 (GRCm39) missense probably damaging 1.00
IGL02622:Dsg3 APN 18 20,662,004 (GRCm39) splice site probably benign
IGL02643:Dsg3 APN 18 20,662,012 (GRCm39) missense probably benign 0.00
IGL02740:Dsg3 APN 18 20,660,765 (GRCm39) missense possibly damaging 0.93
IGL03012:Dsg3 APN 18 20,670,300 (GRCm39) critical splice acceptor site probably null
IGL03026:Dsg3 APN 18 20,670,029 (GRCm39) splice site probably null
IGL03063:Dsg3 APN 18 20,666,425 (GRCm39) splice site probably benign
IGL03098:Dsg3 APN 18 20,643,422 (GRCm39) utr 5 prime probably benign
IGL03132:Dsg3 APN 18 20,657,653 (GRCm39) missense probably damaging 1.00
IGL03352:Dsg3 APN 18 20,660,689 (GRCm39) missense probably benign
P0035:Dsg3 UTSW 18 20,673,026 (GRCm39) missense probably benign 0.05
R0039:Dsg3 UTSW 18 20,654,541 (GRCm39) missense probably benign 0.36
R0099:Dsg3 UTSW 18 20,673,079 (GRCm39) missense probably benign 0.01
R0109:Dsg3 UTSW 18 20,673,191 (GRCm39) missense probably damaging 0.96
R0109:Dsg3 UTSW 18 20,673,191 (GRCm39) missense probably damaging 0.96
R0143:Dsg3 UTSW 18 20,669,882 (GRCm39) missense probably damaging 1.00
R0194:Dsg3 UTSW 18 20,673,199 (GRCm39) missense probably damaging 1.00
R0373:Dsg3 UTSW 18 20,672,804 (GRCm39) missense probably damaging 1.00
R0517:Dsg3 UTSW 18 20,662,082 (GRCm39) missense probably benign 0.06
R0521:Dsg3 UTSW 18 20,660,872 (GRCm39) missense possibly damaging 0.53
R1194:Dsg3 UTSW 18 20,658,277 (GRCm39) missense probably damaging 0.98
R1551:Dsg3 UTSW 18 20,669,975 (GRCm39) missense possibly damaging 0.84
R1762:Dsg3 UTSW 18 20,672,789 (GRCm39) missense probably damaging 1.00
R1957:Dsg3 UTSW 18 20,655,162 (GRCm39) missense probably damaging 1.00
R2061:Dsg3 UTSW 18 20,660,794 (GRCm39) nonsense probably null
R2071:Dsg3 UTSW 18 20,669,882 (GRCm39) missense probably damaging 1.00
R2513:Dsg3 UTSW 18 20,656,719 (GRCm39) missense possibly damaging 0.48
R2571:Dsg3 UTSW 18 20,673,062 (GRCm39) missense probably benign 0.01
R2945:Dsg3 UTSW 18 20,672,992 (GRCm39) missense probably benign
R2968:Dsg3 UTSW 18 20,658,282 (GRCm39) missense possibly damaging 0.75
R3906:Dsg3 UTSW 18 20,671,556 (GRCm39) missense probably damaging 1.00
R4616:Dsg3 UTSW 18 20,664,616 (GRCm39) missense probably benign
R4641:Dsg3 UTSW 18 20,653,615 (GRCm39) missense probably benign 0.28
R4685:Dsg3 UTSW 18 20,672,793 (GRCm39) missense probably benign 0.08
R5690:Dsg3 UTSW 18 20,655,108 (GRCm39) missense probably benign 0.01
R5786:Dsg3 UTSW 18 20,654,628 (GRCm39) missense possibly damaging 0.46
R5950:Dsg3 UTSW 18 20,671,586 (GRCm39) missense probably damaging 1.00
R6131:Dsg3 UTSW 18 20,653,534 (GRCm39) splice site probably null
R6131:Dsg3 UTSW 18 20,671,569 (GRCm39) missense probably damaging 0.99
R6243:Dsg3 UTSW 18 20,672,781 (GRCm39) missense probably damaging 1.00
R6315:Dsg3 UTSW 18 20,657,643 (GRCm39) missense probably benign 0.08
R6327:Dsg3 UTSW 18 20,672,927 (GRCm39) missense probably benign
R6418:Dsg3 UTSW 18 20,656,817 (GRCm39) critical splice donor site probably null
R6464:Dsg3 UTSW 18 20,666,583 (GRCm39) missense probably benign 0.00
R6497:Dsg3 UTSW 18 20,670,305 (GRCm39) missense probably benign 0.33
R6518:Dsg3 UTSW 18 20,666,479 (GRCm39) missense probably benign 0.23
R6551:Dsg3 UTSW 18 20,672,968 (GRCm39) missense unknown
R6685:Dsg3 UTSW 18 20,653,672 (GRCm39) critical splice donor site probably null
R6952:Dsg3 UTSW 18 20,658,216 (GRCm39) missense possibly damaging 0.77
R7357:Dsg3 UTSW 18 20,672,840 (GRCm39) missense probably damaging 1.00
R7385:Dsg3 UTSW 18 20,673,254 (GRCm39) missense possibly damaging 0.52
R7456:Dsg3 UTSW 18 20,664,420 (GRCm39) missense probably benign 0.17
R7506:Dsg3 UTSW 18 20,666,521 (GRCm39) missense probably benign 0.31
R7570:Dsg3 UTSW 18 20,660,837 (GRCm39) missense possibly damaging 0.95
R7980:Dsg3 UTSW 18 20,664,417 (GRCm39) missense probably benign 0.00
R8100:Dsg3 UTSW 18 20,662,028 (GRCm39) missense probably benign 0.08
R8147:Dsg3 UTSW 18 20,673,130 (GRCm39) missense probably benign
R8242:Dsg3 UTSW 18 20,669,980 (GRCm39) missense possibly damaging 0.93
R8415:Dsg3 UTSW 18 20,656,765 (GRCm39) missense probably damaging 1.00
R8494:Dsg3 UTSW 18 20,673,271 (GRCm39) missense probably benign 0.03
R8930:Dsg3 UTSW 18 20,672,718 (GRCm39) missense probably damaging 1.00
R8932:Dsg3 UTSW 18 20,672,718 (GRCm39) missense probably damaging 1.00
R8998:Dsg3 UTSW 18 20,666,684 (GRCm39) missense probably damaging 1.00
R8999:Dsg3 UTSW 18 20,666,684 (GRCm39) missense probably damaging 1.00
R9336:Dsg3 UTSW 18 20,657,742 (GRCm39) missense probably benign 0.19
R9498:Dsg3 UTSW 18 20,658,278 (GRCm39) missense probably damaging 0.98
R9598:Dsg3 UTSW 18 20,672,789 (GRCm39) missense probably damaging 1.00
R9601:Dsg3 UTSW 18 20,666,578 (GRCm39) missense probably damaging 1.00
R9748:Dsg3 UTSW 18 20,672,761 (GRCm39) missense possibly damaging 0.87
R9794:Dsg3 UTSW 18 20,673,154 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17