Incidental Mutation 'IGL01148:Dsg1a'
ID53216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsg1a
Ensembl Gene ENSMUSG00000069441
Gene Namedesmoglein 1 alpha
SynonymsDsg1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01148
Quality Score
Status
Chromosome18
Chromosomal Location20310811-20343350 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 20320925 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 29 (V29E)
Ref Sequence ENSEMBL: ENSMUSP00000076393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077146]
Predicted Effect probably damaging
Transcript: ENSMUST00000077146
AA Change: V29E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: V29E

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,685,172 E309G probably benign Het
Acap1 A T 11: 69,890,903 C64* probably null Het
Ccng2 G A 5: 93,270,887 D124N probably damaging Het
Cttnbp2 G A 6: 18,382,818 P1317L probably damaging Het
Exoc6b T C 6: 84,908,226 K244E probably benign Het
Fastkd5 A G 2: 130,614,685 F662L probably benign Het
Fbxl18 T C 5: 142,885,825 M488V probably damaging Het
Gas2l3 C T 10: 89,413,504 G584D probably benign Het
Gm28042 T C 2: 120,039,038 F405L possibly damaging Het
Gm5415 A G 1: 32,545,654 S392P possibly damaging Het
Gtf3c2 T C 5: 31,159,824 K635E probably damaging Het
H2-Q2 A G 17: 35,342,678 Y48C probably damaging Het
Hddc2 T C 10: 31,316,334 I78T probably damaging Het
Hspg2 T A 4: 137,546,658 M2708K probably benign Het
Ift88 T C 14: 57,439,732 S119P probably benign Het
Mta2 T C 19: 8,948,304 C388R probably damaging Het
Mymx G T 17: 45,601,668 probably benign Het
Naga A G 15: 82,330,660 Y366H possibly damaging Het
Nlrp9a A G 7: 26,557,581 E208G probably damaging Het
Nr4a2 C T 2: 57,111,971 V94M probably benign Het
Olfr1232 G T 2: 89,326,024 T52K probably benign Het
Osbpl8 G T 10: 111,276,563 probably benign Het
Pitpnb T A 5: 111,338,356 V42D probably damaging Het
Pitrm1 A G 13: 6,573,105 R801G probably benign Het
Pthlh G A 6: 147,252,575 T174M probably benign Het
Sco2 T C 15: 89,371,721 I243M probably benign Het
Sema5a G A 15: 32,681,495 V907M probably benign Het
Stac2 T A 11: 98,043,561 K106* probably null Het
Tas2r105 T A 6: 131,686,852 R204S probably damaging Het
Tgm5 A G 2: 121,046,675 probably null Het
Trpm1 A G 7: 64,243,564 I939V probably damaging Het
Ttll11 T A 2: 35,784,193 N574I probably damaging Het
Zfand3 A T 17: 30,135,400 T64S probably benign Het
Zfyve26 G A 12: 79,260,870 H312Y probably benign Het
Other mutations in Dsg1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Dsg1a APN 18 20340206 missense probably damaging 1.00
IGL01534:Dsg1a APN 18 20340996 missense probably benign 0.06
IGL01566:Dsg1a APN 18 20336783 splice site probably benign
IGL01582:Dsg1a APN 18 20328848 missense probably null 1.00
IGL01913:Dsg1a APN 18 20322236 missense probably damaging 1.00
IGL01926:Dsg1a APN 18 20333584 missense possibly damaging 0.60
IGL02102:Dsg1a APN 18 20332032 missense probably benign 0.01
IGL02900:Dsg1a APN 18 20328656 splice site probably benign
IGL02937:Dsg1a APN 18 20331534 missense possibly damaging 0.93
IGL02962:Dsg1a APN 18 20340324 missense possibly damaging 0.92
IGL03003:Dsg1a APN 18 20336819 missense probably benign 0.43
PIT4687001:Dsg1a UTSW 18 20331698 missense probably benign 0.16
R0126:Dsg1a UTSW 18 20340878 missense probably benign 0.00
R0200:Dsg1a UTSW 18 20340938 missense probably benign 0.00
R0284:Dsg1a UTSW 18 20331627 missense probably damaging 0.98
R0394:Dsg1a UTSW 18 20333750 missense probably damaging 1.00
R0543:Dsg1a UTSW 18 20340863 missense probably damaging 1.00
R0656:Dsg1a UTSW 18 20335892 splice site probably benign
R0733:Dsg1a UTSW 18 20338668 missense probably damaging 0.97
R0750:Dsg1a UTSW 18 20340153 missense probably benign 0.10
R1300:Dsg1a UTSW 18 20332149 missense probably benign 0.19
R1501:Dsg1a UTSW 18 20332019 missense probably damaging 1.00
R1523:Dsg1a UTSW 18 20322317 missense probably damaging 0.99
R1673:Dsg1a UTSW 18 20331504 missense probably damaging 1.00
R1980:Dsg1a UTSW 18 20338650 missense probably damaging 1.00
R2102:Dsg1a UTSW 18 20333773 missense probably damaging 1.00
R2132:Dsg1a UTSW 18 20340797 missense probably damaging 1.00
R2299:Dsg1a UTSW 18 20340150 missense probably damaging 1.00
R2426:Dsg1a UTSW 18 20336804 missense probably damaging 0.96
R3031:Dsg1a UTSW 18 20340492 missense probably damaging 1.00
R4044:Dsg1a UTSW 18 20324030 missense probably damaging 1.00
R4075:Dsg1a UTSW 18 20340070 missense possibly damaging 0.53
R4644:Dsg1a UTSW 18 20340728 missense probably benign 0.04
R4661:Dsg1a UTSW 18 20340533 missense probably damaging 0.99
R4816:Dsg1a UTSW 18 20333722 missense probably benign 0.10
R5221:Dsg1a UTSW 18 20324014 missense possibly damaging 0.64
R5257:Dsg1a UTSW 18 20320931 missense probably damaging 1.00
R5360:Dsg1a UTSW 18 20340954 missense probably damaging 0.96
R5547:Dsg1a UTSW 18 20336040 critical splice donor site probably null
R5702:Dsg1a UTSW 18 20336865 critical splice donor site probably null
R5987:Dsg1a UTSW 18 20331542 missense probably damaging 1.00
R6108:Dsg1a UTSW 18 20340247 missense probably benign 0.19
R6170:Dsg1a UTSW 18 20335986 missense probably damaging 0.99
R7018:Dsg1a UTSW 18 20328738 missense possibly damaging 0.48
R7201:Dsg1a UTSW 18 20328311 missense probably damaging 0.98
Posted On2013-06-21