Incidental Mutation 'R0284:Dsg1a'
ID 65349
Institutional Source Beutler Lab
Gene Symbol Dsg1a
Ensembl Gene ENSMUSG00000069441
Gene Name desmoglein 1 alpha
Synonyms Dsg1
MMRRC Submission 038505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R0284 (G1)
Quality Score 160
Status Validated
Chromosome 18
Chromosomal Location 20443930-20476410 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20464684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 393 (V393E)
Ref Sequence ENSEMBL: ENSMUSP00000076393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077146]
AlphaFold Q61495
Predicted Effect probably damaging
Transcript: ENSMUST00000077146
AA Change: V393E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: V393E

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.4%
Validation Efficiency 100% (61/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh6 A G 7: 30,013,413 (GRCm39) T161A probably benign Het
Alox12e A G 11: 70,211,725 (GRCm39) probably benign Het
Ap1g2 A G 14: 55,339,149 (GRCm39) probably benign Het
Arid2 A T 15: 96,276,848 (GRCm39) probably benign Het
Bmp2k A T 5: 97,216,314 (GRCm39) H604L unknown Het
Cacna1a A T 8: 85,338,914 (GRCm39) M1705L probably damaging Het
Cacna1d A T 14: 29,794,062 (GRCm39) D1526E probably damaging Het
Ccdc171 A G 4: 83,467,975 (GRCm39) R107G possibly damaging Het
Cklf T C 8: 104,988,207 (GRCm39) probably benign Het
Crabp1 A G 9: 54,672,210 (GRCm39) K9E probably benign Het
Cspg4 A G 9: 56,793,423 (GRCm39) D386G probably damaging Het
Cyp3a41b G A 5: 145,515,014 (GRCm39) probably benign Het
Ednrb C T 14: 104,057,449 (GRCm39) G371D probably damaging Het
Efcab5 T C 11: 76,994,353 (GRCm39) probably benign Het
Exoc2 A T 13: 31,061,608 (GRCm39) probably benign Het
Fbn2 G A 18: 58,183,362 (GRCm39) probably benign Het
Foxo6 T C 4: 120,126,199 (GRCm39) S199G probably benign Het
Fpr1 T A 17: 18,097,618 (GRCm39) I124F probably damaging Het
Gk5 A T 9: 96,063,823 (GRCm39) probably null Het
Gys1 A T 7: 45,086,143 (GRCm39) probably benign Het
Igfbp1 T C 11: 7,148,103 (GRCm39) S49P probably damaging Het
Incenp A T 19: 9,871,357 (GRCm39) S91T unknown Het
Itpkc G A 7: 26,913,968 (GRCm39) R498* probably null Het
Kat6a A G 8: 23,429,819 (GRCm39) T1725A unknown Het
Kiz T A 2: 146,705,730 (GRCm39) C97S probably benign Het
Kri1 A G 9: 21,187,848 (GRCm39) probably benign Het
Lipn A G 19: 34,058,106 (GRCm39) S276G possibly damaging Het
Llgl1 A G 11: 60,602,967 (GRCm39) T881A probably damaging Het
Man1a2 T C 3: 100,592,102 (GRCm39) H26R probably damaging Het
Map3k5 T A 10: 19,876,359 (GRCm39) F173I probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mipol1 A G 12: 57,503,855 (GRCm39) Q341R probably damaging Het
Mllt6 G T 11: 97,569,431 (GRCm39) A928S probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nipsnap3a C T 4: 52,997,178 (GRCm39) T150I probably benign Het
Nsl1 A G 1: 190,797,427 (GRCm39) E97G probably damaging Het
Or11j4 G A 14: 50,630,452 (GRCm39) V80M probably damaging Het
Or4f54 T C 2: 111,122,931 (GRCm39) V106A probably benign Het
Or7g18 A T 9: 18,786,848 (GRCm39) Y72F probably benign Het
Or8c11 G A 9: 38,289,880 (GRCm39) M234I probably benign Het
Pakap T C 4: 57,855,207 (GRCm39) F220L probably damaging Het
Pdcd6ip A G 9: 113,491,572 (GRCm39) L552S probably damaging Het
Plekhf2 T C 4: 10,990,595 (GRCm39) probably benign Het
Prdm1 T C 10: 44,332,622 (GRCm39) E96G probably damaging Het
Prpf40a T A 2: 53,040,659 (GRCm39) E608D probably damaging Het
Prpf40b A T 15: 99,214,274 (GRCm39) probably benign Het
Rag2 T C 2: 101,460,464 (GRCm39) V258A probably damaging Het
S100a5 A G 3: 90,518,881 (GRCm39) I68V probably benign Het
Serpinb8 G A 1: 107,530,648 (GRCm39) probably null Het
Slc24a4 T C 12: 102,226,740 (GRCm39) V492A probably damaging Het
Spag6l T A 16: 16,598,630 (GRCm39) Q287L probably damaging Het
Spmip6 T G 4: 41,507,538 (GRCm39) E150A probably damaging Het
Synpo2 C T 3: 122,873,383 (GRCm39) W211* probably null Het
Tgtp1 A G 11: 48,877,970 (GRCm39) V245A probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Trerf1 A G 17: 47,630,471 (GRCm39) noncoding transcript Het
Ttn G C 2: 76,677,048 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vps13d A T 4: 144,871,372 (GRCm39) M1900K probably benign Het
Vps41 A T 13: 19,037,610 (GRCm39) D691V probably damaging Het
Zfp518b T C 5: 38,829,083 (GRCm39) Y974C probably damaging Het
Zscan29 A T 2: 120,997,214 (GRCm39) 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
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
R2426:Dsg1a UTSW 18 20,469,861 (GRCm39) missense probably damaging 0.96
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'- GTTCCCAACAAGTAACACTGGACTGG -3'
(R):5'- ACACACTTTGTCAAATCCACTTTGTGC -3'

Sequencing Primer
(F):5'- CTGTTCTAGCCCCTAGATTATGAAG -3'
(R):5'- GTCAAATCCACTTTGTGCTCATTC -3'
Posted On 2013-08-08