Incidental Mutation 'R9478:Dsg1b'
ID 715961
Institutional Source Beutler Lab
Gene Symbol Dsg1b
Ensembl Gene ENSMUSG00000061928
Gene Name desmoglein 1 beta
Synonyms Dsg5
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9478 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 20509786-20543253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20531008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 453 (Y453F)
Ref Sequence ENSEMBL: ENSMUSP00000076026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076737]
AlphaFold Q7TSF1
Predicted Effect
SMART Domains Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: Y453F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,451,573 (GRCm39) I886F possibly damaging Het
3100002H09Rik A G 4: 124,504,151 (GRCm39) S134P unknown Het
Abcf2 A G 5: 24,770,940 (GRCm39) L604P possibly damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg14 G T 14: 47,783,138 (GRCm39) H373Q probably damaging Het
Atmin C T 8: 117,681,537 (GRCm39) H179Y probably damaging Het
Catsperg1 G T 7: 28,897,777 (GRCm39) P197T possibly damaging Het
Ccdc7b C T 8: 129,837,473 (GRCm39) Q155* probably null Het
Cep85l T G 10: 53,224,875 (GRCm39) E238A possibly damaging Het
Cfap119 T C 7: 127,184,087 (GRCm39) probably null Het
Cntln G A 4: 84,897,630 (GRCm39) V406I probably benign Het
Csf2rb2 C A 15: 78,168,965 (GRCm39) G730V probably benign Het
Cyp3a59 T A 5: 146,034,997 (GRCm39) L225Q probably damaging Het
Dock1 T A 7: 134,367,962 (GRCm39) F511I probably damaging Het
Dync1h1 T C 12: 110,625,137 (GRCm39) F3829L probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Esco2 C A 14: 66,068,657 (GRCm39) G218* probably null Het
Gale C T 4: 135,692,574 (GRCm39) probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Hgf A G 5: 16,766,029 (GRCm39) D55G possibly damaging Het
Il17ra A G 6: 120,451,336 (GRCm39) D170G possibly damaging Het
Inha A G 1: 75,486,562 (GRCm39) S286G probably benign Het
Kif1b C T 4: 149,345,616 (GRCm39) probably null Het
Klhl24 T G 16: 19,941,763 (GRCm39) S570R possibly damaging Het
Krt87 G A 15: 101,385,449 (GRCm39) R308W probably benign Het
Lama2 T A 10: 26,891,478 (GRCm39) E2545V probably damaging Het
Lztfl1 T C 9: 123,537,167 (GRCm39) K165E possibly damaging Het
Mab21l3 A T 3: 101,725,987 (GRCm39) D336E probably damaging Het
Matn2 T C 15: 34,345,242 (GRCm39) I83T probably damaging Het
Mfsd9 T C 1: 40,812,941 (GRCm39) D458G probably benign Het
Ncbp3 A G 11: 72,968,768 (GRCm39) D513G probably damaging Het
Neb T A 2: 52,078,788 (GRCm39) K5818N probably benign Het
Nol4 G A 18: 23,053,934 (GRCm39) P120S probably damaging Het
Oit3 C A 10: 59,274,464 (GRCm39) C112F probably damaging Het
Or11g27 A T 14: 50,771,051 (GRCm39) T61S probably benign Het
Or4b1 C A 2: 89,979,595 (GRCm39) A252S possibly damaging Het
Or5p52 G A 7: 107,502,238 (GRCm39) V105M probably damaging Het
Or6c6 T A 10: 129,186,960 (GRCm39) M176K possibly damaging Het
Pank4 G A 4: 155,064,565 (GRCm39) R708Q probably benign Het
Plch1 T A 3: 63,606,825 (GRCm39) L1026F probably benign Het
Poglut3 T C 9: 53,303,236 (GRCm39) F232L probably damaging Het
Ptpn3 A T 4: 57,197,573 (GRCm39) I772N probably damaging Het
Purb A G 11: 6,425,424 (GRCm39) F155L probably damaging Het
Rcor2 C T 19: 7,248,794 (GRCm39) R256W probably damaging Het
Rp1 A G 1: 4,417,545 (GRCm39) L1189P probably benign Het
Scn1a T C 2: 66,156,493 (GRCm39) E472G probably benign Het
Sema3e T C 5: 14,286,386 (GRCm39) Y536H probably damaging Het
Serpina3n A T 12: 104,378,672 (GRCm39) I331F possibly damaging Het
Sertad3 T C 7: 27,175,679 (GRCm39) S38P probably damaging Het
Sfrp4 G T 13: 19,807,610 (GRCm39) R3L unknown Het
Slc35a5 T C 16: 44,964,426 (GRCm39) E269G probably damaging Het
Snrnp200 G A 2: 127,076,993 (GRCm39) probably null Het
Sumo1 A G 1: 59,694,615 (GRCm39) probably null Het
Syne2 A G 12: 76,154,387 (GRCm39) K2020E probably damaging Het
Tcp10a A T 17: 7,601,740 (GRCm39) T247S probably benign Het
Tgds T C 14: 118,352,544 (GRCm39) D290G possibly damaging Het
Trav7d-3 A T 14: 52,982,054 (GRCm39) I32F possibly damaging Het
Vps41 A G 13: 19,046,913 (GRCm39) N788D Het
Zfp521 G A 18: 13,950,372 (GRCm39) T1194I probably damaging Het
Zmynd8 C A 2: 165,649,569 (GRCm39) K841N 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
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
R9695:Dsg1b UTSW 18 20,532,389 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGCAAAGTGTGTTTTCAGAC -3'
(R):5'- TGTATTCCAATCACAGCCCC -3'

Sequencing Primer
(F):5'- CTTCTTGATTTGAAAGACAGCT -3'
(R):5'- AATCCTTTCCCATATTGCCCC -3'
Posted On 2022-06-15