Incidental Mutation 'R8962:Dsg1b'
ID 682444
Institutional Source Beutler Lab
Gene Symbol Dsg1b
Ensembl Gene ENSMUSG00000061928
Gene Name desmoglein 1 beta
Synonyms Dsg5
MMRRC Submission 068796-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8962 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 20509786-20543253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20542316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 941 (N941S)
Ref Sequence ENSEMBL: ENSMUSP00000076026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076737]
AlphaFold Q7TSF1
Predicted Effect probably damaging
Transcript: ENSMUST00000076737
AA Change: N941S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: N941S

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: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency 99% (86/87)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,220,173 (GRCm39) M120L probably benign Het
Abat A G 16: 8,396,166 (GRCm39) T48A probably damaging Het
Abca8a A T 11: 109,969,634 (GRCm39) I314N probably damaging Het
Abr A T 11: 76,352,155 (GRCm39) V108D probably damaging Het
Adamts17 T G 7: 66,725,057 (GRCm39) L162V probably damaging Het
Adamts6 A T 13: 104,433,899 (GRCm39) K109N probably damaging Het
Ago3 A G 4: 126,241,595 (GRCm39) F68S probably damaging Het
Aifm3 T C 16: 17,324,200 (GRCm39) probably null Het
Ankrd26 T C 6: 118,512,104 (GRCm39) E506G probably benign Het
Apaf1 A G 10: 90,903,066 (GRCm39) L185P probably damaging Het
Atp8b3 G T 10: 80,355,896 (GRCm39) T1272K probably benign Het
Cars2 A G 8: 11,587,304 (GRCm39) V193A probably benign Het
Ccn5 C T 2: 163,667,160 (GRCm39) R54* probably null Het
Ccr8 A T 9: 119,923,613 (GRCm39) I243F possibly damaging Het
Col12a1 A G 9: 79,538,901 (GRCm39) V2465A probably damaging Het
Ctbp1 T C 5: 33,416,616 (GRCm39) N127S probably benign Het
Ddx10 A G 9: 53,149,377 (GRCm39) S117P probably damaging Het
Dgkb T C 12: 38,189,494 (GRCm39) probably null Het
Dnah11 T A 12: 117,916,273 (GRCm39) D3520V probably damaging Het
Dnah11 C T 12: 117,918,630 (GRCm39) D1530N probably damaging Het
Dock5 T C 14: 67,994,640 (GRCm39) T1807A probably benign Het
Drd3 C T 16: 43,641,842 (GRCm39) T386I probably damaging Het
Enpp3 T C 10: 24,696,513 (GRCm39) T141A probably benign Het
Esyt1 A T 10: 128,356,566 (GRCm39) C360S possibly damaging Het
Ethe1 T A 7: 24,305,682 (GRCm39) V143D probably damaging Het
Fam170b A G 14: 32,557,336 (GRCm39) D57G probably benign Het
Fam53c T C 18: 34,901,229 (GRCm39) S49P probably damaging Het
Fbp1 G A 13: 63,023,067 (GRCm39) L77F probably benign Het
Gm17093 A G 14: 44,758,149 (GRCm39) E110G Het
Gm21976 G T 13: 98,423,821 (GRCm39) silent Het
Golgb1 T C 16: 36,733,978 (GRCm39) I1075T probably damaging Het
Grip2 T C 6: 91,754,391 (GRCm39) D628G probably damaging Het
Gtpbp1 G T 15: 79,601,929 (GRCm39) L557F probably benign Het
Ighv12-3 A T 12: 114,330,204 (GRCm39) F97Y probably benign Het
Itga8 T C 2: 12,196,045 (GRCm39) H635R possibly damaging Het
Itgb7 A G 15: 102,127,037 (GRCm39) L466S probably damaging Het
Klc2 T C 19: 5,161,864 (GRCm39) D277G probably benign Het
Ktn1 A G 14: 47,901,248 (GRCm39) E2G probably damaging Het
Lcmt1 T A 7: 123,000,669 (GRCm39) Y68N probably damaging Het
Marchf10 G T 11: 105,280,815 (GRCm39) S490* probably null Het
Mterf1b A T 5: 4,246,437 (GRCm39) Y26F probably benign Het
Myo18b T A 5: 113,006,346 (GRCm39) I855F probably benign Het
Nek4 G A 14: 30,675,915 (GRCm39) M83I probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 T C 5: 118,017,405 (GRCm39) V256A probably benign Het
Nr1h2 T C 7: 44,201,463 (GRCm39) T50A probably benign Het
Or14c42-ps1 T A 7: 86,211,317 (GRCm39) *126K probably null Het
Or4n4 A C 14: 50,518,816 (GRCm39) M298R possibly damaging Het
Ovol2 G C 2: 144,147,834 (GRCm39) R172G probably damaging Het
Parp14 A G 16: 35,677,187 (GRCm39) I927T probably damaging Het
Pcdhga7 T A 18: 37,848,879 (GRCm39) H295Q probably benign Het
Pkhd1l1 C T 15: 44,400,291 (GRCm39) T2145I probably damaging Het
Plekhs1 C T 19: 56,461,680 (GRCm39) T139I possibly damaging Het
Rab11fip3 T A 17: 26,231,007 (GRCm39) D746V probably damaging Het
Rnf214 A C 9: 45,809,728 (GRCm39) probably null Het
Rtn4ip1 A T 10: 43,822,415 (GRCm39) probably null Het
S1pr1 T C 3: 115,505,569 (GRCm39) R342G Het
Serpina1f T C 12: 103,656,131 (GRCm39) S366G probably benign Het
Sestd1 A T 2: 77,042,708 (GRCm39) M282K probably benign Het
Siglecf T G 7: 43,001,140 (GRCm39) V36G probably damaging Het
Slc1a1 T C 19: 28,886,869 (GRCm39) V410A probably damaging Het
Slc38a4 C A 15: 96,917,684 (GRCm39) D14Y probably benign Het
Slk C T 19: 47,610,748 (GRCm39) T806M probably damaging Het
Slurp2 C A 15: 74,615,249 (GRCm39) V48F possibly damaging Het
Socs1 A G 16: 10,602,642 (GRCm39) S32P possibly damaging Het
Son T C 16: 91,455,057 (GRCm39) V1268A possibly damaging Het
Sp7 C A 15: 102,274,880 (GRCm39) probably benign Het
Speer4a2 T G 5: 26,290,745 (GRCm39) E142A probably benign Het
Taar7b T G 10: 23,876,359 (GRCm39) S175A probably benign Het
Tet2 T C 3: 133,193,804 (GRCm39) N210S probably benign Het
Tkfc T C 19: 10,570,700 (GRCm39) D492G probably damaging Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Trmt9b A G 8: 36,972,729 (GRCm39) K60E probably damaging Het
Tshz2 C A 2: 169,726,524 (GRCm39) F373L probably damaging Het
Ttc29 T A 8: 79,042,336 (GRCm39) L307Q probably damaging Het
Tubd1 G A 11: 86,439,659 (GRCm39) M1I probably null Het
Vmn1r62 T A 7: 5,678,601 (GRCm39) M94K probably damaging Het
Vmn2r125 T C 4: 156,703,186 (GRCm39) I188T possibly damaging Het
Vmn2r5 T C 3: 64,398,564 (GRCm39) D805G probably damaging Het
Vmn2r6 A T 3: 64,463,576 (GRCm39) D419E probably damaging Het
Vps39 A T 2: 120,174,687 (GRCm39) Y98* probably null Het
Zdbf2 G A 1: 63,347,162 (GRCm39) G1847D probably benign Het
Zdhhc6 T C 19: 55,287,239 (GRCm39) E407G probably benign Het
Zfp407 A G 18: 84,577,057 (GRCm39) I1352T probably damaging Het
Zfp607a A G 7: 27,578,786 (GRCm39) K619E possibly damaging Het
Zfp811 A T 17: 33,017,622 (GRCm39) N139K 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 20,523,189 (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
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'- GTCCACTTTCATGATAACCAGCAG -3'
(R):5'- TGCTAACAAGGCCACTGCTG -3'

Sequencing Primer
(F):5'- CCAGCAGGCTTCAAATGTG -3'
(R):5'- AAGGCCACTGCTGCCTATG -3'
Posted On 2021-08-31