Incidental Mutation 'R3031:Dsg1a'
ID 264742
Institutional Source Beutler Lab
Gene Symbol Dsg1a
Ensembl Gene ENSMUSG00000069441
Gene Name desmoglein 1 alpha
Synonyms Dsg1
MMRRC Submission 040547-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R3031 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20443930-20476410 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20473549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 874 (D874V)
Ref Sequence ENSEMBL: ENSMUSP00000076393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077146]
AlphaFold Q61495
Predicted Effect probably damaging
Transcript: ENSMUST00000077146
AA Change: D874V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: D874V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,193,863 (GRCm39) V753L probably damaging Het
Ap3b1 T C 13: 94,702,151 (GRCm39) L1068P unknown Het
Cacna1h C A 17: 25,652,108 (GRCm39) R12L probably damaging Het
Cbln4 A G 2: 171,884,100 (GRCm39) V40A probably damaging Het
Ccdc170 T C 10: 4,468,931 (GRCm39) S160P probably damaging Het
Cdc37 T C 9: 21,054,487 (GRCm39) E46G possibly damaging Het
Cltc T C 11: 86,621,158 (GRCm39) H287R probably damaging Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Hydin A G 8: 111,329,848 (GRCm39) R4861G possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lipe T C 7: 25,084,320 (GRCm39) E588G possibly damaging Het
Mael T C 1: 166,032,375 (GRCm39) D328G probably damaging Het
Mboat7 A G 7: 3,681,687 (GRCm39) V398A probably benign Het
Slc35e1 A G 8: 73,238,735 (GRCm39) W258R probably benign Het
Slc9a8 A G 2: 167,293,201 (GRCm39) D183G probably damaging Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Sult3a1 G A 10: 33,753,345 (GRCm39) D214N possibly damaging Het
Traf3ip1 T C 1: 91,447,822 (GRCm39) V433A probably damaging Het
Ubxn7 T A 16: 32,194,125 (GRCm39) D232E probably benign Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vps13c T C 9: 67,831,052 (GRCm39) S1561P probably benign Het
Wdr48 T C 9: 119,753,176 (GRCm39) V593A probably benign Het
Zfp58 A G 13: 67,640,231 (GRCm39) F87L probably benign Het
Zfp663 A T 2: 165,195,616 (GRCm39) L201* probably null 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
R2426:Dsg1a UTSW 18 20,469,861 (GRCm39) missense probably damaging 0.96
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'- TCCCCACATTTTGGCACGAC -3'
(R):5'- TGCCTATCATGCCAGAGGTTG -3'

Sequencing Primer
(F):5'- TGGCACGACCACAGTAATTTCTG -3'
(R):5'- CAACTACATTTGAGGTCTCTTGAGG -3'
Posted On 2015-02-05