Incidental Mutation 'R2426:Dsg1a'
ID 250249
Institutional Source Beutler Lab
Gene Symbol Dsg1a
Ensembl Gene ENSMUSG00000069441
Gene Name desmoglein 1 alpha
Synonyms Dsg1
MMRRC Submission 040388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R2426 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20443930-20476410 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20469861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 629 (I629N)
Ref Sequence ENSEMBL: ENSMUSP00000076393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077146]
AlphaFold Q61495
Predicted Effect probably damaging
Transcript: ENSMUST00000077146
AA Change: I629N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: I629N

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 407 485 6.44e-1 SMART
low complexity region 573 584 N/A INTRINSIC
low complexity region 590 598 N/A INTRINSIC
Pfam:Cadherin_C 659 781 1.6e-10 PFAM
low complexity region 786 799 N/A INTRINSIC
internal_repeat_1 823 888 9.56e-6 PROSPERO
internal_repeat_1 908 975 9.56e-6 PROSPERO
low complexity region 983 1004 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G T 7: 119,882,446 (GRCm39) V1203L probably benign Het
Adamtsl1 G A 4: 86,075,025 (GRCm39) V131I probably benign Het
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Agbl1 T C 7: 76,071,650 (GRCm39) V324A probably damaging Het
Ahnak A T 19: 8,980,215 (GRCm39) I500F possibly damaging Het
Aldh1l1 A G 6: 90,575,266 (GRCm39) D851G probably damaging Het
Amot T C X: 144,259,287 (GRCm39) K460E probably damaging Het
Arhgef3 G T 14: 27,106,138 (GRCm39) E161* probably null Het
Atg9b A T 5: 24,591,992 (GRCm39) I669N probably damaging Het
Ccdc83 A G 7: 89,877,639 (GRCm39) Y268H probably damaging Het
Cep170 A G 1: 176,602,201 (GRCm39) S302P probably benign Het
Cyp4a31 T A 4: 115,428,213 (GRCm39) M303K probably damaging Het
Cyp4v3 T A 8: 45,770,813 (GRCm39) Y231F probably benign Het
Defa39 T G 8: 22,192,653 (GRCm39) K114N possibly damaging Het
Dock3 A T 9: 106,791,740 (GRCm39) L1411Q possibly damaging Het
Dst A T 1: 34,231,893 (GRCm39) H2837L probably benign Het
Fam114a2 G A 11: 57,383,906 (GRCm39) P343L probably benign Het
Fbrs A G 7: 127,086,511 (GRCm39) probably null Het
Fbxl13 A C 5: 21,727,135 (GRCm39) D620E probably damaging Het
Frmd4a T A 2: 4,534,673 (GRCm39) S164T probably damaging Het
Gdi2 T G 13: 3,612,034 (GRCm39) S330A probably benign Het
Gm5878 A T 6: 85,095,613 (GRCm39) M70K probably benign Het
H2-Q6 G T 17: 35,643,913 (GRCm39) A21S probably benign Het
Hfm1 A T 5: 106,995,519 (GRCm39) probably null Het
Hnmt C T 2: 23,909,167 (GRCm39) C82Y probably benign Het
Il1rl1 C A 1: 40,485,779 (GRCm39) A310D probably damaging Het
Ints1 A T 5: 139,757,569 (GRCm39) probably null Het
Kcne4 C A 1: 78,795,688 (GRCm39) A112E possibly damaging Het
Krt32 T C 11: 99,977,192 (GRCm39) K236R possibly damaging Het
Maml2 T C 9: 13,617,794 (GRCm39) L380P probably damaging Het
Meis1 A T 11: 18,938,356 (GRCm39) D218E possibly damaging Het
Mon1b G A 8: 114,365,752 (GRCm39) G360D probably damaging Het
Mpp4 A G 1: 59,169,216 (GRCm39) S383P probably damaging Het
Neb A G 2: 52,059,065 (GRCm39) probably null Het
Nlgn2 A T 11: 69,717,912 (GRCm39) I431N probably damaging Het
Nr2e1 A G 10: 42,439,481 (GRCm39) L134P probably damaging Het
Opcml G A 9: 28,814,663 (GRCm39) probably null Het
Or2t29 A T 11: 58,433,920 (GRCm39) Y127* probably null Het
Or6c207 T C 10: 129,105,135 (GRCm39) Q19R probably benign Het
Or7c19 T C 8: 85,957,693 (GRCm39) S190P probably damaging Het
Pate2 A T 9: 35,581,776 (GRCm39) probably null Het
Pgr G A 9: 8,900,718 (GRCm39) V84M probably damaging Het
Pigu A T 2: 155,141,002 (GRCm39) V296D probably damaging Het
Plcb2 G A 2: 118,546,130 (GRCm39) T555M probably damaging Het
Pld5 T G 1: 175,791,542 (GRCm39) D426A probably benign Het
Prdm2 G T 4: 142,838,320 (GRCm39) C1679* probably null Het
Psme2b A T 11: 48,836,890 (GRCm39) V19D probably benign Het
Ptpn9 A T 9: 56,934,712 (GRCm39) N159Y possibly damaging Het
Sanbr T A 11: 23,526,801 (GRCm39) R190W probably damaging Het
Sdc3 A T 4: 130,546,114 (GRCm39) T64S unknown Het
Serping1 T G 2: 84,600,563 (GRCm39) S260R probably damaging Het
Slc20a1 T C 2: 129,050,150 (GRCm39) F436S probably benign Het
Sntb1 A T 15: 55,769,575 (GRCm39) I138N probably damaging Het
Sorcs3 A T 19: 48,711,364 (GRCm39) Y643F probably damaging Het
Spink1 G T 18: 43,868,287 (GRCm39) S23* probably null Het
Stag1 T C 9: 100,727,169 (GRCm39) probably null Het
Tnfaip8l1 G A 17: 56,479,030 (GRCm39) V107I probably benign Het
Tnik A G 3: 28,700,830 (GRCm39) S907G probably damaging Het
Ttf1 T A 2: 28,957,197 (GRCm39) M489K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp54 G A 14: 20,615,008 (GRCm39) A811V probably benign Het
Xirp2 A G 2: 67,344,815 (GRCm39) N2352S probably benign Het
Zan T C 5: 137,387,254 (GRCm39) Y4933C unknown Het
Zbtb8a A G 4: 129,254,012 (GRCm39) S161P probably benign Het
Zkscan5 A T 5: 145,157,750 (GRCm39) I751L probably benign Het
Zscan4d A G 7: 10,899,022 (GRCm39) F85S probably damaging Het
Zzef1 A G 11: 72,806,091 (GRCm39) M2647V probably benign Het
Other mutations in Dsg1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Dsg1a APN 18 20,473,263 (GRCm39) missense probably damaging 1.00
IGL01148:Dsg1a APN 18 20,453,982 (GRCm39) missense probably damaging 0.97
IGL01534:Dsg1a APN 18 20,474,053 (GRCm39) missense probably benign 0.06
IGL01566:Dsg1a APN 18 20,469,840 (GRCm39) splice site probably benign
IGL01582:Dsg1a APN 18 20,461,905 (GRCm39) missense probably null 1.00
IGL01913:Dsg1a APN 18 20,455,293 (GRCm39) missense probably damaging 1.00
IGL01926:Dsg1a APN 18 20,466,641 (GRCm39) missense possibly damaging 0.60
IGL02102:Dsg1a APN 18 20,465,089 (GRCm39) missense probably benign 0.01
IGL02900:Dsg1a APN 18 20,461,713 (GRCm39) splice site probably benign
IGL02937:Dsg1a APN 18 20,464,591 (GRCm39) missense possibly damaging 0.93
IGL02962:Dsg1a APN 18 20,473,381 (GRCm39) missense possibly damaging 0.92
IGL03003:Dsg1a APN 18 20,469,876 (GRCm39) missense probably benign 0.43
PIT4687001:Dsg1a UTSW 18 20,464,755 (GRCm39) missense probably benign 0.16
R0126:Dsg1a UTSW 18 20,473,935 (GRCm39) missense probably benign 0.00
R0200:Dsg1a UTSW 18 20,473,995 (GRCm39) missense probably benign 0.00
R0284:Dsg1a UTSW 18 20,464,684 (GRCm39) missense probably damaging 0.98
R0394:Dsg1a UTSW 18 20,466,807 (GRCm39) missense probably damaging 1.00
R0543:Dsg1a UTSW 18 20,473,920 (GRCm39) missense probably damaging 1.00
R0656:Dsg1a UTSW 18 20,468,949 (GRCm39) splice site probably benign
R0733:Dsg1a UTSW 18 20,471,725 (GRCm39) missense probably damaging 0.97
R0750:Dsg1a UTSW 18 20,473,210 (GRCm39) missense probably benign 0.10
R1300:Dsg1a UTSW 18 20,465,206 (GRCm39) missense probably benign 0.19
R1501:Dsg1a UTSW 18 20,465,076 (GRCm39) missense probably damaging 1.00
R1523:Dsg1a UTSW 18 20,455,374 (GRCm39) missense probably damaging 0.99
R1673:Dsg1a UTSW 18 20,464,561 (GRCm39) missense probably damaging 1.00
R1980:Dsg1a UTSW 18 20,471,707 (GRCm39) missense probably damaging 1.00
R2102:Dsg1a UTSW 18 20,466,830 (GRCm39) missense probably damaging 1.00
R2132:Dsg1a UTSW 18 20,473,854 (GRCm39) missense probably damaging 1.00
R2299:Dsg1a UTSW 18 20,473,207 (GRCm39) missense probably damaging 1.00
R3031:Dsg1a UTSW 18 20,473,549 (GRCm39) missense probably damaging 1.00
R4044:Dsg1a UTSW 18 20,457,087 (GRCm39) missense probably damaging 1.00
R4075:Dsg1a UTSW 18 20,473,127 (GRCm39) missense possibly damaging 0.53
R4644:Dsg1a UTSW 18 20,473,785 (GRCm39) missense probably benign 0.04
R4661:Dsg1a UTSW 18 20,473,590 (GRCm39) missense probably damaging 0.99
R4816:Dsg1a UTSW 18 20,466,779 (GRCm39) missense probably benign 0.10
R5221:Dsg1a UTSW 18 20,457,071 (GRCm39) missense possibly damaging 0.64
R5257:Dsg1a UTSW 18 20,453,988 (GRCm39) missense probably damaging 1.00
R5360:Dsg1a UTSW 18 20,474,011 (GRCm39) missense probably damaging 0.96
R5547:Dsg1a UTSW 18 20,469,097 (GRCm39) critical splice donor site probably null
R5702:Dsg1a UTSW 18 20,469,922 (GRCm39) critical splice donor site probably null
R5987:Dsg1a UTSW 18 20,464,599 (GRCm39) missense probably damaging 1.00
R6108:Dsg1a UTSW 18 20,473,304 (GRCm39) missense probably benign 0.19
R6170:Dsg1a UTSW 18 20,469,043 (GRCm39) missense probably damaging 0.99
R7018:Dsg1a UTSW 18 20,461,795 (GRCm39) missense possibly damaging 0.48
R7201:Dsg1a UTSW 18 20,461,368 (GRCm39) missense probably damaging 0.98
R7730:Dsg1a UTSW 18 20,464,768 (GRCm39) missense possibly damaging 0.77
R7814:Dsg1a UTSW 18 20,471,572 (GRCm39) splice site probably null
R8185:Dsg1a UTSW 18 20,473,669 (GRCm39) missense probably damaging 1.00
R8297:Dsg1a UTSW 18 20,465,090 (GRCm39) missense probably benign 0.02
R8377:Dsg1a UTSW 18 20,466,831 (GRCm39) missense probably damaging 1.00
R8409:Dsg1a UTSW 18 20,473,208 (GRCm39) missense probably damaging 1.00
R8775:Dsg1a UTSW 18 20,473,564 (GRCm39) missense probably damaging 0.98
R8775-TAIL:Dsg1a UTSW 18 20,473,564 (GRCm39) missense probably damaging 0.98
R8818:Dsg1a UTSW 18 20,473,599 (GRCm39) missense possibly damaging 0.87
R8821:Dsg1a UTSW 18 20,453,365 (GRCm39) missense probably damaging 0.96
R8831:Dsg1a UTSW 18 20,453,365 (GRCm39) missense probably damaging 0.96
R9030:Dsg1a UTSW 18 20,473,549 (GRCm39) missense probably damaging 1.00
R9205:Dsg1a UTSW 18 20,473,228 (GRCm39) missense probably damaging 1.00
R9239:Dsg1a UTSW 18 20,473,750 (GRCm39) missense probably damaging 1.00
R9410:Dsg1a UTSW 18 20,464,590 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- CTCAACAGAGGTCACAAGGCAG -3'
(R):5'- GTCAGATCAGTTACAGTGGGC -3'

Sequencing Primer
(F):5'- GCAGGGCTTAAAAATGAGATTCAAC -3'
(R):5'- CGCTTCATTTACACATATGTTATGGG -3'
Posted On 2014-11-12