Incidental Mutation 'R4853:Dsg1b'
ID 374538
Institutional Source Beutler Lab
Gene Symbol Dsg1b
Ensembl Gene ENSMUSG00000061928
Gene Name desmoglein 1 beta
Synonyms Dsg5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4853 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20509786-20543253 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 20523189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076737]
AlphaFold Q7TSF1
Predicted Effect probably null
Transcript: ENSMUST00000076737
SMART Domains Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Abr T C 11: 76,355,087 (GRCm39) T244A probably damaging Het
Adcy10 T A 1: 165,375,782 (GRCm39) N803K probably benign Het
Afm T C 5: 90,699,326 (GRCm39) F590S probably damaging Het
Agk T C 6: 40,360,753 (GRCm39) probably null Het
Agrn C T 4: 156,270,007 (GRCm39) probably null Het
Apon A G 10: 128,090,951 (GRCm39) S210G probably benign Het
Atad5 A G 11: 79,986,098 (GRCm39) E395G probably damaging Het
AU018091 A T 7: 3,205,861 (GRCm39) L671H probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Ccdc154 A T 17: 25,389,941 (GRCm39) I524F probably damaging Het
Clspn T A 4: 126,460,348 (GRCm39) I525K probably damaging Het
Cpne5 A T 17: 29,380,172 (GRCm39) V448E probably benign Het
Cps1 A G 1: 67,195,361 (GRCm39) I261V possibly damaging Het
Crybb2 T C 5: 113,211,054 (GRCm39) E78G probably damaging Het
Ctps1 G T 4: 120,411,207 (GRCm39) L270I probably damaging Het
Cyp19a1 T C 9: 54,074,060 (GRCm39) D431G probably benign Het
Cyp3a57 T G 5: 145,302,489 (GRCm39) V95G probably damaging Het
Ddx54 A G 5: 120,761,694 (GRCm39) D490G probably benign Het
Dnai2 A T 11: 114,635,917 (GRCm39) I301F probably benign Het
Ermap G A 4: 119,044,451 (GRCm39) P115L probably damaging Het
Esrra T G 19: 6,897,440 (GRCm39) T106P probably damaging Het
Exoc5 GTATT GT 14: 49,289,826 (GRCm39) probably benign Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gnl3 T C 14: 30,737,270 (GRCm39) K203E probably damaging Het
H2ac13 A G 13: 21,900,866 (GRCm39) E92G probably damaging Het
Habp2 G A 19: 56,299,623 (GRCm39) probably null Het
Kcnh3 A C 15: 99,139,970 (GRCm39) D952A possibly damaging Het
Kif27 T C 13: 58,459,072 (GRCm39) K920E probably benign Het
Kmt2e C T 5: 23,707,339 (GRCm39) P1634L probably damaging Het
Lamc1 A T 1: 153,104,846 (GRCm39) M1312K possibly damaging Het
Myh14 T A 7: 44,257,872 (GRCm39) Q1921L probably damaging Het
Ncor2 A G 5: 125,102,169 (GRCm39) V68A probably damaging Het
Ncor2 A G 5: 125,158,247 (GRCm39) F444L unknown Het
Nedd9 A G 13: 41,469,837 (GRCm39) Y439H probably benign Het
Nsd1 T A 13: 55,416,317 (GRCm39) H1454Q probably benign Het
Or10v9 T A 19: 11,832,645 (GRCm39) D224V probably benign Het
Or51v8 G T 7: 103,320,010 (GRCm39) T76K probably damaging Het
Or5i1 T G 2: 87,613,526 (GRCm39) F214C probably benign Het
Or9m1b A G 2: 87,836,448 (GRCm39) S216P probably damaging Het
P4ha2 G A 11: 54,010,996 (GRCm39) S337N probably benign Het
Pck1 T A 2: 172,996,507 (GRCm39) Y140* probably null Het
Phldb2 T C 16: 45,623,079 (GRCm39) M656V probably damaging Het
Pif1 T C 9: 65,500,858 (GRCm39) W559R probably damaging Het
Pllp T C 8: 95,406,022 (GRCm39) Y87C probably damaging Het
Ppp1r3a T C 6: 14,719,046 (GRCm39) N623D probably benign Het
Prkcg C T 7: 3,367,469 (GRCm39) R345C probably damaging Het
Rgl1 T C 1: 152,433,325 (GRCm39) I147V probably benign Het
Sdk1 T A 5: 142,132,018 (GRCm39) L1649Q probably damaging Het
Sema3b C T 9: 107,479,266 (GRCm39) probably null Het
Sh3rf3 G A 10: 58,919,341 (GRCm39) R486H probably damaging Het
Shoc1 T C 4: 59,072,345 (GRCm39) K624E possibly damaging Het
Slain2 A G 5: 73,105,941 (GRCm39) N192S probably benign Het
Slc22a16 T A 10: 40,450,047 (GRCm39) I161N probably damaging Het
Strip1 T C 3: 107,524,232 (GRCm39) K562E possibly damaging Het
Sumf1 A G 6: 108,162,456 (GRCm39) L21S probably benign Het
Sytl3 T A 17: 7,005,164 (GRCm39) S380T probably damaging Het
Tgfb1i1 T A 7: 127,847,840 (GRCm39) C74* probably null Het
Tmprss15 T G 16: 78,757,479 (GRCm39) I939L probably benign Het
Tpsb2 GGCTGCTGCTGCTGCTG GGCTGCTGCTGCTG 17: 25,585,536 (GRCm39) probably benign Het
Vwde A T 6: 13,215,639 (GRCm39) V139E probably damaging Het
Wdr27 A G 17: 15,137,475 (GRCm39) probably null Het
Zkscan14 A G 5: 145,132,001 (GRCm39) V510A probably benign 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
R1569:Dsg1b UTSW 18 20,529,537 (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
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'- GACTTCTTAGGGTAACATCTGTTTC -3'
(R):5'- CCCAGTATTGAGACTCTTGAAATC -3'

Sequencing Primer
(F):5'- TAGACAGCACATTCAACAG -3'
(R):5'- GACTCTTGAAATCAAATCTGGTATGG -3'
Posted On 2016-03-16