Incidental Mutation 'R1569:Dsg1b'
ID 177153
Institutional Source Beutler Lab
Gene Symbol Dsg1b
Ensembl Gene ENSMUSG00000061928
Gene Name desmoglein 1 beta
Synonyms Dsg5
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1569 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 20509786-20543253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20529537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 327 (N327K)
Ref Sequence ENSEMBL: ENSMUSP00000076026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076737]
AlphaFold Q7TSF1
Predicted Effect probably damaging
Transcript: ENSMUST00000076737
AA Change: N327K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: N327K

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
Meta Mutation Damage Score 0.2690 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably damaging Het
Other mutations in Dsg1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Dsg1b APN 18 20,529,533 (GRCm39) missense probably damaging 1.00
IGL00675:Dsg1b APN 18 20,524,975 (GRCm39) nonsense probably null
IGL01071:Dsg1b APN 18 20,542,272 (GRCm39) missense probably damaging 1.00
IGL01589:Dsg1b APN 18 20,542,651 (GRCm39) missense probably damaging 1.00
IGL01729:Dsg1b APN 18 20,538,295 (GRCm39) missense possibly damaging 0.66
IGL01753:Dsg1b APN 18 20,530,906 (GRCm39) splice site probably benign
IGL02560:Dsg1b APN 18 20,542,235 (GRCm39) missense possibly damaging 0.80
IGL02654:Dsg1b APN 18 20,542,319 (GRCm39) missense probably damaging 1.00
IGL02726:Dsg1b APN 18 20,532,542 (GRCm39) missense probably benign
IGL03272:Dsg1b APN 18 20,530,446 (GRCm39) missense probably benign 0.25
IGL03342:Dsg1b APN 18 20,542,517 (GRCm39) missense probably benign 0.09
IGL02835:Dsg1b UTSW 18 20,525,071 (GRCm39) missense possibly damaging 0.66
R0080:Dsg1b UTSW 18 20,530,424 (GRCm39) missense probably damaging 1.00
R0133:Dsg1b UTSW 18 20,537,935 (GRCm39) missense probably damaging 0.96
R0455:Dsg1b UTSW 18 20,529,082 (GRCm39) missense probably benign 0.02
R0498:Dsg1b UTSW 18 20,542,390 (GRCm39) missense possibly damaging 0.95
R0518:Dsg1b UTSW 18 20,521,221 (GRCm39) missense probably benign 0.00
R1418:Dsg1b UTSW 18 20,530,487 (GRCm39) nonsense probably null
R1429:Dsg1b UTSW 18 20,523,252 (GRCm39) missense probably damaging 1.00
R1450:Dsg1b UTSW 18 20,542,241 (GRCm39) missense probably damaging 1.00
R1674:Dsg1b UTSW 18 20,532,578 (GRCm39) missense probably benign
R1934:Dsg1b UTSW 18 20,528,963 (GRCm39) missense probably damaging 1.00
R2004:Dsg1b UTSW 18 20,529,532 (GRCm39) missense probably damaging 0.99
R2191:Dsg1b UTSW 18 20,542,675 (GRCm39) makesense probably null
R2192:Dsg1b UTSW 18 20,542,675 (GRCm39) makesense probably null
R2927:Dsg1b UTSW 18 20,538,308 (GRCm39) missense probably benign 0.23
R3777:Dsg1b UTSW 18 20,532,644 (GRCm39) missense probably damaging 1.00
R3801:Dsg1b UTSW 18 20,523,260 (GRCm39) missense probably damaging 1.00
R4205:Dsg1b UTSW 18 20,541,878 (GRCm39) missense probably damaging 1.00
R4718:Dsg1b UTSW 18 20,530,986 (GRCm39) missense probably damaging 0.98
R4853:Dsg1b UTSW 18 20,541,793 (GRCm39) missense probably benign 0.01
R4853:Dsg1b UTSW 18 20,523,189 (GRCm39) critical splice acceptor site probably null
R4981:Dsg1b UTSW 18 20,541,925 (GRCm39) missense possibly damaging 0.66
R5125:Dsg1b UTSW 18 20,530,560 (GRCm39) missense probably damaging 1.00
R5178:Dsg1b UTSW 18 20,530,560 (GRCm39) missense probably damaging 1.00
R5213:Dsg1b UTSW 18 20,528,987 (GRCm39) missense probably damaging 1.00
R5450:Dsg1b UTSW 18 20,542,121 (GRCm39) missense probably damaging 1.00
R5605:Dsg1b UTSW 18 20,532,596 (GRCm39) missense probably benign
R5778:Dsg1b UTSW 18 20,542,279 (GRCm39) missense possibly damaging 0.66
R5808:Dsg1b UTSW 18 20,541,782 (GRCm39) missense probably damaging 1.00
R6144:Dsg1b UTSW 18 20,529,476 (GRCm39) missense possibly damaging 0.92
R6185:Dsg1b UTSW 18 20,532,543 (GRCm39) missense probably benign
R6268:Dsg1b UTSW 18 20,521,220 (GRCm39) missense probably benign 0.01
R6291:Dsg1b UTSW 18 20,537,848 (GRCm39) missense possibly damaging 0.71
R6342:Dsg1b UTSW 18 20,523,300 (GRCm39) missense probably damaging 1.00
R6449:Dsg1b UTSW 18 20,527,498 (GRCm39) missense possibly damaging 0.82
R6566:Dsg1b UTSW 18 20,530,499 (GRCm39) missense probably damaging 1.00
R6817:Dsg1b UTSW 18 20,527,462 (GRCm39) missense probably damaging 1.00
R7235:Dsg1b UTSW 18 20,532,480 (GRCm39) missense probably benign 0.01
R7857:Dsg1b UTSW 18 20,529,520 (GRCm39) missense probably benign 0.06
R8209:Dsg1b UTSW 18 20,541,947 (GRCm39) missense probably benign 0.36
R8283:Dsg1b UTSW 18 20,524,963 (GRCm39) missense probably benign 0.01
R8328:Dsg1b UTSW 18 20,510,007 (GRCm39) missense probably benign 0.00
R8746:Dsg1b UTSW 18 20,529,056 (GRCm39) missense probably damaging 1.00
R8962:Dsg1b UTSW 18 20,542,316 (GRCm39) missense probably damaging 1.00
R9095:Dsg1b UTSW 18 20,523,282 (GRCm39) missense probably damaging 1.00
R9319:Dsg1b UTSW 18 20,531,004 (GRCm39) nonsense probably null
R9386:Dsg1b UTSW 18 20,525,071 (GRCm39) missense possibly damaging 0.66
R9478:Dsg1b UTSW 18 20,531,008 (GRCm39) missense
R9695:Dsg1b UTSW 18 20,532,389 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GACAGCCTGGTACAGGATCTCTCAT -3'
(R):5'- AGAAATGCTTTCCCCAAACCTGATGT -3'

Sequencing Primer
(F):5'- GTACAGGATCTCTCATTTGCTTTG -3'
(R):5'- ACCTGATGTTTGGAAAGAATTGC -3'
Posted On 2014-04-24