Incidental Mutation 'IGL01566:Dsg1a'
ID 90994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsg1a
Ensembl Gene ENSMUSG00000069441
Gene Name desmoglein 1 alpha
Synonyms Dsg1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL01566
Quality Score
Status
Chromosome 18
Chromosomal Location 20443930-20476410 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 20469840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077146]
AlphaFold Q61495
Predicted Effect probably benign
Transcript: ENSMUST00000077146
SMART Domains Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 70 155 3.45e-14 SMART
CA 179 267 3.11e-21 SMART
CA 290 384 6.29e-8 SMART
CA 407 485 6.44e-1 SMART
low complexity region 573 584 N/A INTRINSIC
low complexity region 590 598 N/A INTRINSIC
Pfam:Cadherin_C 659 781 1.6e-10 PFAM
low complexity region 786 799 N/A INTRINSIC
internal_repeat_1 823 888 9.56e-6 PROSPERO
internal_repeat_1 908 975 9.56e-6 PROSPERO
low complexity region 983 1004 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. 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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T C 9: 21,447,285 (GRCm39) V149A possibly damaging Het
Casc3 T C 11: 98,714,227 (GRCm39) probably null Het
Dhdds T C 4: 133,718,648 (GRCm39) I162V probably damaging Het
E030025P04Rik T A 11: 109,034,714 (GRCm39) D58V unknown Het
Gcn1 A G 5: 115,749,117 (GRCm39) N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 (GRCm39) L235P probably damaging Het
Jkampl G A 6: 73,445,673 (GRCm39) T292I probably damaging Het
Kprp T C 3: 92,731,271 (GRCm39) N593S probably benign Het
Mme T C 3: 63,269,350 (GRCm39) probably benign Het
Nr6a1 G T 2: 38,617,901 (GRCm39) Q419K probably benign Het
Pcolce A G 5: 137,603,422 (GRCm39) probably benign Het
Ppp2cb C A 8: 34,101,791 (GRCm39) R110S probably benign Het
Slc35f1 A G 10: 52,965,551 (GRCm39) Y322C probably damaging Het
Slc5a3 T C 16: 91,874,465 (GRCm39) V174A probably damaging Het
St8sia4 G T 1: 95,581,482 (GRCm39) R87S probably benign Het
Tfdp2 A G 9: 96,177,083 (GRCm39) E5G probably damaging Het
Tmem161b T C 13: 84,442,881 (GRCm39) I267T probably benign Het
Ttn A G 2: 76,782,365 (GRCm39) L957P probably damaging Het
Ttn A G 2: 76,612,445 (GRCm39) probably benign Het
Ubqln1 A T 13: 58,327,481 (GRCm39) probably null Het
Wdfy3 A C 5: 102,044,454 (GRCm39) probably benign Het
Other mutations in Dsg1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Dsg1a APN 18 20,473,263 (GRCm39) missense probably damaging 1.00
IGL01148:Dsg1a APN 18 20,453,982 (GRCm39) missense probably damaging 0.97
IGL01534:Dsg1a APN 18 20,474,053 (GRCm39) missense probably benign 0.06
IGL01582:Dsg1a APN 18 20,461,905 (GRCm39) missense probably null 1.00
IGL01913:Dsg1a APN 18 20,455,293 (GRCm39) missense probably damaging 1.00
IGL01926:Dsg1a APN 18 20,466,641 (GRCm39) missense possibly damaging 0.60
IGL02102:Dsg1a APN 18 20,465,089 (GRCm39) missense probably benign 0.01
IGL02900:Dsg1a APN 18 20,461,713 (GRCm39) splice site probably benign
IGL02937:Dsg1a APN 18 20,464,591 (GRCm39) missense possibly damaging 0.93
IGL02962:Dsg1a APN 18 20,473,381 (GRCm39) missense possibly damaging 0.92
IGL03003:Dsg1a APN 18 20,469,876 (GRCm39) missense probably benign 0.43
PIT4687001:Dsg1a UTSW 18 20,464,755 (GRCm39) missense probably benign 0.16
R0126:Dsg1a UTSW 18 20,473,935 (GRCm39) missense probably benign 0.00
R0200:Dsg1a UTSW 18 20,473,995 (GRCm39) missense probably benign 0.00
R0284:Dsg1a UTSW 18 20,464,684 (GRCm39) missense probably damaging 0.98
R0394:Dsg1a UTSW 18 20,466,807 (GRCm39) missense probably damaging 1.00
R0543:Dsg1a UTSW 18 20,473,920 (GRCm39) missense probably damaging 1.00
R0656:Dsg1a UTSW 18 20,468,949 (GRCm39) splice site probably benign
R0733:Dsg1a UTSW 18 20,471,725 (GRCm39) missense probably damaging 0.97
R0750:Dsg1a UTSW 18 20,473,210 (GRCm39) missense probably benign 0.10
R1300:Dsg1a UTSW 18 20,465,206 (GRCm39) missense probably benign 0.19
R1501:Dsg1a UTSW 18 20,465,076 (GRCm39) missense probably damaging 1.00
R1523:Dsg1a UTSW 18 20,455,374 (GRCm39) missense probably damaging 0.99
R1673:Dsg1a UTSW 18 20,464,561 (GRCm39) missense probably damaging 1.00
R1980:Dsg1a UTSW 18 20,471,707 (GRCm39) missense probably damaging 1.00
R2102:Dsg1a UTSW 18 20,466,830 (GRCm39) missense probably damaging 1.00
R2132:Dsg1a UTSW 18 20,473,854 (GRCm39) missense probably damaging 1.00
R2299:Dsg1a UTSW 18 20,473,207 (GRCm39) missense probably damaging 1.00
R2426:Dsg1a UTSW 18 20,469,861 (GRCm39) missense probably damaging 0.96
R3031:Dsg1a UTSW 18 20,473,549 (GRCm39) missense probably damaging 1.00
R4044:Dsg1a UTSW 18 20,457,087 (GRCm39) missense probably damaging 1.00
R4075:Dsg1a UTSW 18 20,473,127 (GRCm39) missense possibly damaging 0.53
R4644:Dsg1a UTSW 18 20,473,785 (GRCm39) missense probably benign 0.04
R4661:Dsg1a UTSW 18 20,473,590 (GRCm39) missense probably damaging 0.99
R4816:Dsg1a UTSW 18 20,466,779 (GRCm39) missense probably benign 0.10
R5221:Dsg1a UTSW 18 20,457,071 (GRCm39) missense possibly damaging 0.64
R5257:Dsg1a UTSW 18 20,453,988 (GRCm39) missense probably damaging 1.00
R5360:Dsg1a UTSW 18 20,474,011 (GRCm39) missense probably damaging 0.96
R5547:Dsg1a UTSW 18 20,469,097 (GRCm39) critical splice donor site probably null
R5702:Dsg1a UTSW 18 20,469,922 (GRCm39) critical splice donor site probably null
R5987:Dsg1a UTSW 18 20,464,599 (GRCm39) missense probably damaging 1.00
R6108:Dsg1a UTSW 18 20,473,304 (GRCm39) missense probably benign 0.19
R6170:Dsg1a UTSW 18 20,469,043 (GRCm39) missense probably damaging 0.99
R7018:Dsg1a UTSW 18 20,461,795 (GRCm39) missense possibly damaging 0.48
R7201:Dsg1a UTSW 18 20,461,368 (GRCm39) missense probably damaging 0.98
R7730:Dsg1a UTSW 18 20,464,768 (GRCm39) missense possibly damaging 0.77
R7814:Dsg1a UTSW 18 20,471,572 (GRCm39) splice site probably null
R8185:Dsg1a UTSW 18 20,473,669 (GRCm39) missense probably damaging 1.00
R8297:Dsg1a UTSW 18 20,465,090 (GRCm39) missense probably benign 0.02
R8377:Dsg1a UTSW 18 20,466,831 (GRCm39) missense probably damaging 1.00
R8409:Dsg1a UTSW 18 20,473,208 (GRCm39) missense probably damaging 1.00
R8775:Dsg1a UTSW 18 20,473,564 (GRCm39) missense probably damaging 0.98
R8775-TAIL:Dsg1a UTSW 18 20,473,564 (GRCm39) missense probably damaging 0.98
R8818:Dsg1a UTSW 18 20,473,599 (GRCm39) missense possibly damaging 0.87
R8821:Dsg1a UTSW 18 20,453,365 (GRCm39) missense probably damaging 0.96
R8831:Dsg1a UTSW 18 20,453,365 (GRCm39) missense probably damaging 0.96
R9030:Dsg1a UTSW 18 20,473,549 (GRCm39) missense probably damaging 1.00
R9205:Dsg1a UTSW 18 20,473,228 (GRCm39) missense probably damaging 1.00
R9239:Dsg1a UTSW 18 20,473,750 (GRCm39) missense probably damaging 1.00
R9410:Dsg1a UTSW 18 20,464,590 (GRCm39) missense possibly damaging 0.50
Posted On 2013-12-09