Incidental Mutation 'R5605:Dsg1b'
ID 439271
Institutional Source Beutler Lab
Gene Symbol Dsg1b
Ensembl Gene ENSMUSG00000061928
Gene Name desmoglein 1 beta
Synonyms Dsg5
MMRRC Submission 043270-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5605 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 20509786-20543253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20532596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 547 (P547S)
Ref Sequence ENSEMBL: ENSMUSP00000076026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076737]
AlphaFold Q7TSF1
Predicted Effect probably benign
Transcript: ENSMUST00000076737
AA Change: P547S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: P547S

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C A 18: 67,575,425 (GRCm39) G83* probably null Het
Arap2 A T 5: 62,772,410 (GRCm39) M1476K possibly damaging Het
Catsper2 G A 2: 121,227,533 (GRCm39) R546C possibly damaging Het
Ceacam5 T C 7: 17,481,161 (GRCm39) F303L probably benign Het
Clvs1 A G 4: 9,281,751 (GRCm39) D65G probably damaging Het
Coq5 T C 5: 115,421,776 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,168,699 (GRCm39) V950E probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dnah7c A G 1: 46,837,395 (GRCm39) D3936G possibly damaging Het
Doc2b T C 11: 75,662,786 (GRCm39) E404G probably damaging Het
Eif1ad17 T A 12: 87,978,768 (GRCm39) C51S probably damaging Het
Erich6 A G 3: 58,532,540 (GRCm39) Y356H probably damaging Het
Galnt6 C T 15: 100,595,106 (GRCm39) R465Q probably damaging Het
Gbp5 T C 3: 142,207,037 (GRCm39) S69P probably damaging Het
Gdpd4 T C 7: 97,655,507 (GRCm39) V562A probably benign Het
Greb1 A T 12: 16,758,727 (GRCm39) V663D probably damaging Het
Gtf3c3 A T 1: 54,455,085 (GRCm39) S593T probably benign Het
H2-Eb1 T C 17: 34,528,807 (GRCm39) S113P probably benign Het
Herc3 C T 6: 58,834,712 (GRCm39) R240C probably damaging Het
Iqub T C 6: 24,505,620 (GRCm39) D96G probably benign Het
Irag1 C T 7: 110,545,209 (GRCm39) C29Y possibly damaging Het
Kcnt2 A T 1: 140,502,481 (GRCm39) E858D possibly damaging Het
Lcor T A 19: 41,571,302 (GRCm39) I165N probably damaging Het
Lrp2 C T 2: 69,353,643 (GRCm39) R539K probably damaging Het
Lrrc10 C A 10: 116,881,805 (GRCm39) P160T probably damaging Het
Map3k12 G T 15: 102,412,300 (GRCm39) D280E probably benign Het
Mcub T C 3: 129,710,658 (GRCm39) E258G probably damaging Het
Mdn1 T C 4: 32,765,664 (GRCm39) S5208P probably benign Het
Med20 C A 17: 47,934,069 (GRCm39) probably benign Het
Mertk T C 2: 128,580,227 (GRCm39) V227A probably benign Het
Ncstn A G 1: 171,908,717 (GRCm39) probably benign Het
Nedd4l T C 18: 65,307,315 (GRCm39) probably null Het
Nfyc A G 4: 120,647,686 (GRCm39) probably benign Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nt5dc1 C T 10: 34,279,691 (GRCm39) C117Y probably benign Het
Nup88 A T 11: 70,834,896 (GRCm39) probably benign Het
Or6z7 C T 7: 6,483,325 (GRCm39) V277M probably benign Het
Pbrm1 T A 14: 30,757,949 (GRCm39) I193K probably benign Het
Pcsk2 T C 2: 143,591,165 (GRCm39) probably benign Het
Pdzd2 A T 15: 12,592,436 (GRCm39) C69* probably null Het
Polr1e A G 4: 45,018,723 (GRCm39) T18A probably benign Het
Prima1 T A 12: 103,166,163 (GRCm39) I124F probably benign Het
Rbm34 T C 8: 127,676,169 (GRCm39) K382R probably benign Het
Rftn1 T G 17: 50,354,435 (GRCm39) N309T probably damaging Het
Septin1 C T 7: 126,814,598 (GRCm39) D260N probably damaging Het
Serpina3g T C 12: 104,207,299 (GRCm39) V154A probably damaging Het
Spef2 A T 15: 9,609,606 (GRCm39) N1306K probably damaging Het
Stk4 T C 2: 163,921,486 (GRCm39) F29S probably damaging Het
Stxbp5 A G 10: 9,645,490 (GRCm39) probably benign Het
Tbl3 T C 17: 24,919,733 (GRCm39) T774A probably benign Het
Tinag A G 9: 76,952,694 (GRCm39) Y97H probably damaging Het
Tpm1 T C 9: 66,956,317 (GRCm39) E33G probably damaging Het
Usp17lb T C 7: 104,489,847 (GRCm39) E359G probably benign Het
Vmn2r91 A G 17: 18,356,763 (GRCm39) E810G probably damaging Het
Vwce A T 19: 10,635,402 (GRCm39) T633S possibly damaging Het
Ylpm1 G A 12: 85,075,627 (GRCm39) R326H 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
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 20,523,189 (GRCm39) critical splice acceptor site probably null
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
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'- CATTGAACTTAGTGGCACTGGC -3'
(R):5'- AGACACGTACTGTTAAGCTGAAC -3'

Sequencing Primer
(F):5'- AGTGGCACTGGCTGGGTAC -3'
(R):5'- CGTACTGTTAAGCTGAACACATAGAC -3'
Posted On 2016-10-26