Incidental Mutation 'IGL01729:Dsg1b'
ID105386
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 #IGL01729
Quality Score
Status
Chromosome18
Chromosomal Location20376729-20410196 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 20405238 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 634 (V634L)
Ref Sequence ENSEMBL: ENSMUSP00000076026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076737]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076737
AA Change: V634L

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: V634L

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,228,325 F86L probably damaging Het
Acer3 A G 7: 98,216,865 V217A probably benign Het
Adcy10 T C 1: 165,513,168 probably null Het
Adcy8 C T 15: 64,806,662 V481I probably damaging Het
Ano3 C T 2: 110,781,394 probably null Het
Arhgap23 C T 11: 97,453,961 T583I probably damaging Het
Atp2a1 A G 7: 126,457,934 L173P probably damaging Het
Clgn T C 8: 83,397,650 W74R probably damaging Het
Clstn3 T C 6: 124,449,794 S523G probably benign Het
Dnah10 A C 5: 124,787,465 K2245Q probably benign Het
Dzip3 A T 16: 48,928,363 V864E possibly damaging Het
Ear2 A T 14: 44,103,244 R120* probably null Het
Fam171b T C 2: 83,855,537 probably benign Het
Fam186b G A 15: 99,280,251 S398L probably benign Het
Gabrp T C 11: 33,552,689 K392E probably damaging Het
Gm10355 G A 3: 101,306,683 noncoding transcript Het
Gm3424 T C 14: 5,829,323 Y90C probably damaging Het
Gm8165 A G 14: 43,672,729 V212A unknown Het
Grm7 G A 6: 111,246,184 R395Q probably benign Het
Il1r1 T A 1: 40,294,826 N185K probably damaging Het
Jam3 A G 9: 27,105,525 F80L probably damaging Het
Map1s T C 8: 70,913,068 Y206H probably damaging Het
Mettl11b T A 1: 163,725,003 D18V probably damaging Het
Mroh7 A G 4: 106,704,205 Y614H possibly damaging Het
Pate2 T C 9: 35,670,592 Y61H probably damaging Het
Prox1 T A 1: 190,161,175 T358S probably benign Het
Prpf6 T A 2: 181,654,917 D876E probably damaging Het
Rpf1 G A 3: 146,507,149 R311C probably damaging Het
Rpusd2 T A 2: 119,035,356 V178D probably damaging Het
Stx2 A G 5: 128,990,978 F222L probably benign Het
Themis T A 10: 28,761,591 Y230* probably null Het
Tmem132e T C 11: 82,435,116 L314P possibly damaging Het
Tmtc3 T C 10: 100,447,155 E846G probably benign Het
Trem1 T C 17: 48,244,575 V88A possibly damaging Het
Trim21 G A 7: 102,563,893 A66V probably damaging Het
Trip4 A C 9: 65,874,892 V186G probably benign Het
Vps9d1 T C 8: 123,247,000 E348G probably damaging Het
Xrn2 T C 2: 147,036,797 probably null Het
Zfp36 A G 7: 28,378,463 S7P 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
IGL01753:Dsg1b APN 18 20397849 splice site probably benign
IGL02560:Dsg1b APN 18 20409178 missense possibly damaging 0.80
IGL02654:Dsg1b APN 18 20409262 missense probably damaging 1.00
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 20408736 missense probably benign 0.01
R4853:Dsg1b UTSW 18 20390132 critical splice acceptor site probably null
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 On2014-01-21