Incidental Mutation 'IGL02654:Dsg1b'
ID302258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsg1b
Ensembl Gene ENSMUSG00000061928
Gene Namedesmoglein 1 beta
SynonymsDsg5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02654
Quality Score
Status
Chromosome18
Chromosomal Location20376729-20410196 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20409262 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 942 (V942A)
Ref Sequence ENSEMBL: ENSMUSP00000076026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076737]
Predicted Effect probably damaging
Transcript: ENSMUST00000076737
AA Change: V942A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: V942A

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 407 491 3.92e-1 SMART
low complexity region 523 541 N/A INTRINSIC
low complexity region 576 587 N/A INTRINSIC
low complexity region 593 601 N/A INTRINSIC
Pfam:Cadherin_C 662 784 1.6e-10 PFAM
low complexity region 789 802 N/A INTRINSIC
low complexity region 884 896 N/A INTRINSIC
low complexity region 984 1006 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
Abcb4 T C 5: 8,927,826 I468T possibly damaging Het
Anxa13 A G 15: 58,342,001 noncoding transcript Het
Arhgef33 A G 17: 80,370,311 Y429C probably damaging Het
BC024978 A G 7: 27,203,873 E289G probably damaging Het
Bdh1 T C 16: 31,456,615 probably benign Het
C77080 C T 4: 129,222,319 G851R probably damaging Het
Dennd4a A G 9: 64,910,191 probably benign Het
Dld G T 12: 31,333,917 H396N probably benign Het
Eln A T 5: 134,717,054 probably benign Het
Fat3 G A 9: 15,996,975 T2577M possibly damaging Het
Gad1 A T 2: 70,572,781 K73M possibly damaging Het
Gipc1 T C 8: 83,663,151 V253A probably damaging Het
Gm21671 T A 5: 25,953,207 H49L probably benign Het
Gtpbp10 A C 5: 5,543,372 probably benign Het
Hgf A T 5: 16,561,051 T62S probably benign Het
Hivep1 T C 13: 42,157,685 S1134P probably damaging Het
Hnrnpc A G 14: 52,084,117 L80S probably damaging Het
Kif20a G A 18: 34,632,023 R770H probably damaging Het
Lcat T C 8: 105,939,769 T374A possibly damaging Het
Mlana A G 19: 29,704,618 probably null Het
Nynrin A G 14: 55,863,259 I169V possibly damaging Het
Olfr697 A T 7: 106,741,348 Y195* probably null Het
P3h3 A G 6: 124,845,265 V585A possibly damaging Het
Pcdhb17 T A 18: 37,486,561 M468K probably benign Het
Prl8a2 T G 13: 27,352,797 I134S possibly damaging Het
Rev3l T C 10: 39,862,734 V2828A probably damaging Het
Rhbdd1 G T 1: 82,342,783 V163F probably benign Het
Rrp1 A G 10: 78,412,939 V5A probably benign Het
Sephs1 A T 2: 4,884,555 N48I probably benign Het
Vmn1r71 A G 7: 10,748,315 Y149H probably benign Het
Wiz T C 17: 32,359,350 D396G probably damaging Het
Xirp2 A G 2: 67,514,671 S2419G possibly damaging Het
Zfp128 A G 7: 12,884,679 T35A possibly damaging Het
Zmym2 T A 14: 56,911,315 F362Y probably damaging Het
Other mutations in Dsg1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Dsg1b APN 18 20396476 missense probably damaging 1.00
IGL00675:Dsg1b APN 18 20391918 nonsense probably null
IGL01071:Dsg1b APN 18 20409215 missense probably damaging 1.00
IGL01589:Dsg1b APN 18 20409594 missense probably damaging 1.00
IGL01729:Dsg1b APN 18 20405238 missense possibly damaging 0.66
IGL01753:Dsg1b APN 18 20397849 splice site probably benign
IGL02560:Dsg1b APN 18 20409178 missense possibly damaging 0.80
IGL02726:Dsg1b APN 18 20399485 missense probably benign
IGL03272:Dsg1b APN 18 20397389 missense probably benign 0.25
IGL03342:Dsg1b APN 18 20409460 missense probably benign 0.09
IGL02835:Dsg1b UTSW 18 20392014 missense possibly damaging 0.66
R0080:Dsg1b UTSW 18 20397367 missense probably damaging 1.00
R0133:Dsg1b UTSW 18 20404878 missense probably damaging 0.96
R0455:Dsg1b UTSW 18 20396025 missense probably benign 0.02
R0498:Dsg1b UTSW 18 20409333 missense possibly damaging 0.95
R0518:Dsg1b UTSW 18 20388164 missense probably benign 0.00
R1418:Dsg1b UTSW 18 20397430 nonsense probably null
R1429:Dsg1b UTSW 18 20390195 missense probably damaging 1.00
R1450:Dsg1b UTSW 18 20409184 missense probably damaging 1.00
R1569:Dsg1b UTSW 18 20396480 missense probably damaging 1.00
R1674:Dsg1b UTSW 18 20399521 missense probably benign
R1934:Dsg1b UTSW 18 20395906 missense probably damaging 1.00
R2004:Dsg1b UTSW 18 20396475 missense probably damaging 0.99
R2191:Dsg1b UTSW 18 20409618 makesense probably null
R2192:Dsg1b UTSW 18 20409618 makesense probably null
R2927:Dsg1b UTSW 18 20405251 missense probably benign 0.23
R3777:Dsg1b UTSW 18 20399587 missense probably damaging 1.00
R3801:Dsg1b UTSW 18 20390203 missense probably damaging 1.00
R4205:Dsg1b UTSW 18 20408821 missense probably damaging 1.00
R4718:Dsg1b UTSW 18 20397929 missense probably damaging 0.98
R4853:Dsg1b UTSW 18 20390132 critical splice acceptor site probably null
R4853:Dsg1b UTSW 18 20408736 missense probably benign 0.01
R4981:Dsg1b UTSW 18 20408868 missense possibly damaging 0.66
R5125:Dsg1b UTSW 18 20397503 missense probably damaging 1.00
R5178:Dsg1b UTSW 18 20397503 missense probably damaging 1.00
R5213:Dsg1b UTSW 18 20395930 missense probably damaging 1.00
R5450:Dsg1b UTSW 18 20409064 missense probably damaging 1.00
R5605:Dsg1b UTSW 18 20399539 missense probably benign
R5778:Dsg1b UTSW 18 20409222 missense possibly damaging 0.66
R5808:Dsg1b UTSW 18 20408725 missense probably damaging 1.00
R6144:Dsg1b UTSW 18 20396419 missense possibly damaging 0.92
R6185:Dsg1b UTSW 18 20399486 missense probably benign
R6268:Dsg1b UTSW 18 20388163 missense probably benign 0.01
R6291:Dsg1b UTSW 18 20404791 missense possibly damaging 0.71
R6342:Dsg1b UTSW 18 20390243 missense probably damaging 1.00
R6449:Dsg1b UTSW 18 20394441 missense possibly damaging 0.82
R6566:Dsg1b UTSW 18 20397442 missense probably damaging 1.00
R6817:Dsg1b UTSW 18 20394405 missense probably damaging 1.00
R7235:Dsg1b UTSW 18 20399423 missense probably benign 0.01
R7857:Dsg1b UTSW 18 20396463 missense probably benign 0.06
R7940:Dsg1b UTSW 18 20396463 missense probably benign 0.06
R7990:Dsg1b UTSW 18 20405210 splice site probably null
Posted On2015-04-16