Incidental Mutation 'IGL02519:Dsg1c'
ID 296865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsg1c
Ensembl Gene ENSMUSG00000034774
Gene Name desmoglein 1 gamma
Synonyms Dsg6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02519
Quality Score
Status
Chromosome 18
Chromosomal Location 20380397-20418088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20416790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 897 (I897N)
Ref Sequence ENSEMBL: ENSMUSP00000054799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054128]
AlphaFold Q7TSF0
Predicted Effect probably damaging
Transcript: ENSMUST00000054128
AA Change: I897N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: I897N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 70 155 1.7e-16 SMART
CA 179 267 5.2e-24 SMART
CA 290 384 4.5e-8 SMART
Blast:CA 407 488 8e-28 BLAST
low complexity region 491 500 N/A INTRINSIC
low complexity region 528 539 N/A INTRINSIC
low complexity region 545 553 N/A INTRINSIC
Pfam:Cadherin_C 611 732 5.2e-8 PFAM
low complexity region 737 750 N/A INTRINSIC
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 26,868,687 (GRCm39) I224F probably damaging Het
Adamts17 A G 7: 66,774,721 (GRCm39) T947A possibly damaging Het
Ankfn1 T C 11: 89,296,504 (GRCm39) E75G probably benign Het
Arfgef1 G T 1: 10,279,893 (GRCm39) H225N probably benign Het
Arsi A G 18: 61,050,139 (GRCm39) S341G probably damaging Het
Aspm T A 1: 139,389,665 (GRCm39) probably benign Het
Bltp1 A G 3: 36,949,464 (GRCm39) E370G probably damaging Het
Cacna1i C T 15: 80,246,075 (GRCm39) R490* probably null Het
Cd33 C T 7: 43,178,153 (GRCm39) probably benign Het
Clmn T C 12: 104,758,112 (GRCm39) I135V probably damaging Het
Crebbp A T 16: 3,919,457 (GRCm39) N795K possibly damaging Het
Dhps A G 8: 85,799,928 (GRCm39) D126G probably damaging Het
Dlg2 G T 7: 91,589,323 (GRCm39) V196L possibly damaging Het
Dzip3 A G 16: 48,748,759 (GRCm39) L1059S probably damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Fgf17 A G 14: 70,875,968 (GRCm39) I88T probably damaging Het
G3bp2 A G 5: 92,214,383 (GRCm39) V137A possibly damaging Het
Gnal G A 18: 67,221,836 (GRCm39) E80K unknown Het
Hectd1 T G 12: 51,815,894 (GRCm39) S1393R probably damaging Het
Igsf6 T C 7: 120,667,496 (GRCm39) I173M possibly damaging Het
Il2ra A C 2: 11,687,901 (GRCm39) E227A possibly damaging Het
Iqcf6 C T 9: 106,504,479 (GRCm39) R48C probably damaging Het
Kdm3a G T 6: 71,588,570 (GRCm39) Q480K probably benign Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Magea6 T C X: 153,707,741 (GRCm39) D105G probably benign Het
Nop53 C A 7: 15,673,197 (GRCm39) probably benign Het
Or14a260 A T 7: 85,984,789 (GRCm39) F272I probably benign Het
Or1j10 T C 2: 36,267,325 (GRCm39) L179P possibly damaging Het
Pgghg A G 7: 140,524,894 (GRCm39) T352A possibly damaging Het
Setd2 T C 9: 110,382,184 (GRCm39) S1464P probably damaging Het
Sspo C A 6: 48,461,762 (GRCm39) T3609N probably damaging Het
Sulf1 T A 1: 12,908,587 (GRCm39) Y533* probably null Het
Thsd7b A G 1: 129,540,932 (GRCm39) S346G probably benign Het
Tmem161b T A 13: 84,442,863 (GRCm39) L261Q probably damaging Het
Tmem63b T A 17: 45,976,134 (GRCm39) T493S possibly damaging Het
Tmprss11d A T 5: 86,454,164 (GRCm39) C214S probably damaging Het
Trim16 A T 11: 62,724,905 (GRCm39) E144V possibly damaging Het
Unc13d T C 11: 115,961,359 (GRCm39) Y356C probably damaging Het
Urgcp A T 11: 5,667,745 (GRCm39) F198I probably benign Het
Vmn2r111 T C 17: 22,767,320 (GRCm39) I726V possibly damaging Het
Zzz3 A T 3: 152,133,027 (GRCm39) E28D probably damaging Het
Other mutations in Dsg1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Dsg1c APN 18 20,407,733 (GRCm39) missense probably damaging 1.00
IGL00596:Dsg1c APN 18 20,414,899 (GRCm39) splice site probably benign
IGL01412:Dsg1c APN 18 20,380,518 (GRCm39) missense probably benign
IGL02037:Dsg1c APN 18 20,410,007 (GRCm39) missense probably benign 0.02
IGL02247:Dsg1c APN 18 20,397,373 (GRCm39) missense probably damaging 1.00
IGL02386:Dsg1c APN 18 20,410,056 (GRCm39) missense probably benign
IGL02408:Dsg1c APN 18 20,407,776 (GRCm39) missense probably damaging 1.00
IGL02591:Dsg1c APN 18 20,408,249 (GRCm39) missense probably damaging 1.00
IGL02730:Dsg1c APN 18 20,407,887 (GRCm39) missense probably damaging 1.00
IGL02836:Dsg1c APN 18 20,400,986 (GRCm39) missense probably benign 0.07
IGL03335:Dsg1c APN 18 20,416,754 (GRCm39) missense probably benign 0.01
Nancy UTSW 18 20,416,171 (GRCm39) missense probably damaging 1.00
R0385:Dsg1c UTSW 18 20,416,711 (GRCm39) missense probably damaging 1.00
R0561:Dsg1c UTSW 18 20,407,832 (GRCm39) missense probably benign 0.04
R0570:Dsg1c UTSW 18 20,403,435 (GRCm39) missense probably damaging 1.00
R0573:Dsg1c UTSW 18 20,412,298 (GRCm39) missense probably benign 0.02
R0621:Dsg1c UTSW 18 20,412,752 (GRCm39) missense possibly damaging 0.62
R0632:Dsg1c UTSW 18 20,405,403 (GRCm39) splice site probably benign
R1183:Dsg1c UTSW 18 20,416,255 (GRCm39) missense probably damaging 1.00
R1529:Dsg1c UTSW 18 20,415,080 (GRCm39) missense probably damaging 1.00
R1596:Dsg1c UTSW 18 20,415,104 (GRCm39) missense probably damaging 1.00
R1619:Dsg1c UTSW 18 20,397,899 (GRCm39) missense probably benign 0.36
R1623:Dsg1c UTSW 18 20,408,234 (GRCm39) missense probably damaging 1.00
R1844:Dsg1c UTSW 18 20,416,096 (GRCm39) splice site probably null
R1881:Dsg1c UTSW 18 20,405,597 (GRCm39) splice site probably benign
R2017:Dsg1c UTSW 18 20,399,253 (GRCm39) missense possibly damaging 0.67
R2072:Dsg1c UTSW 18 20,408,309 (GRCm39) missense probably benign 0.09
R2319:Dsg1c UTSW 18 20,408,235 (GRCm39) missense probably damaging 1.00
R2340:Dsg1c UTSW 18 20,400,945 (GRCm39) missense probably damaging 1.00
R3403:Dsg1c UTSW 18 20,403,407 (GRCm39) missense probably damaging 1.00
R3407:Dsg1c UTSW 18 20,415,115 (GRCm39) critical splice donor site probably null
R3874:Dsg1c UTSW 18 20,410,109 (GRCm39) missense probably benign 0.02
R3910:Dsg1c UTSW 18 20,399,253 (GRCm39) missense possibly damaging 0.67
R4535:Dsg1c UTSW 18 20,408,322 (GRCm39) missense probably benign 0.01
R4739:Dsg1c UTSW 18 20,408,246 (GRCm39) missense possibly damaging 0.95
R5038:Dsg1c UTSW 18 20,397,901 (GRCm39) missense probably benign 0.00
R5165:Dsg1c UTSW 18 20,410,080 (GRCm39) missense probably damaging 1.00
R5210:Dsg1c UTSW 18 20,407,758 (GRCm39) missense probably damaging 0.97
R5253:Dsg1c UTSW 18 20,405,436 (GRCm39) missense probably damaging 1.00
R5327:Dsg1c UTSW 18 20,400,994 (GRCm39) missense possibly damaging 0.75
R5361:Dsg1c UTSW 18 20,416,703 (GRCm39) missense possibly damaging 0.94
R5475:Dsg1c UTSW 18 20,415,088 (GRCm39) missense probably damaging 0.99
R5512:Dsg1c UTSW 18 20,405,568 (GRCm39) missense probably damaging 1.00
R5681:Dsg1c UTSW 18 20,416,270 (GRCm39) missense probably damaging 1.00
R5710:Dsg1c UTSW 18 20,405,408 (GRCm39) missense probably benign 0.06
R5889:Dsg1c UTSW 18 20,416,658 (GRCm39) missense possibly damaging 0.87
R6513:Dsg1c UTSW 18 20,407,687 (GRCm39) missense probably benign 0.01
R6596:Dsg1c UTSW 18 20,403,581 (GRCm39) splice site probably null
R6941:Dsg1c UTSW 18 20,400,980 (GRCm39) missense probably damaging 0.96
R7041:Dsg1c UTSW 18 20,399,201 (GRCm39) missense probably damaging 1.00
R7061:Dsg1c UTSW 18 20,410,066 (GRCm39) missense probably benign
R7240:Dsg1c UTSW 18 20,416,166 (GRCm39) missense probably damaging 1.00
R8048:Dsg1c UTSW 18 20,407,824 (GRCm39) missense probably damaging 1.00
R8092:Dsg1c UTSW 18 20,415,029 (GRCm39) missense probably damaging 1.00
R8103:Dsg1c UTSW 18 20,416,171 (GRCm39) missense probably damaging 1.00
R8117:Dsg1c UTSW 18 20,410,016 (GRCm39) missense probably benign
R8192:Dsg1c UTSW 18 20,399,255 (GRCm39) missense probably damaging 1.00
R8801:Dsg1c UTSW 18 20,410,022 (GRCm39) missense probably benign 0.00
R9059:Dsg1c UTSW 18 20,408,306 (GRCm39) missense probably damaging 1.00
R9152:Dsg1c UTSW 18 20,416,329 (GRCm39) missense probably benign 0.06
R9292:Dsg1c UTSW 18 20,416,775 (GRCm39) missense probably damaging 1.00
R9469:Dsg1c UTSW 18 20,400,947 (GRCm39) missense probably damaging 1.00
R9596:Dsg1c UTSW 18 20,416,361 (GRCm39) missense probably benign 0.17
R9619:Dsg1c UTSW 18 20,416,499 (GRCm39) missense probably damaging 1.00
R9628:Dsg1c UTSW 18 20,397,373 (GRCm39) missense probably damaging 1.00
R9710:Dsg1c UTSW 18 20,410,044 (GRCm39) missense probably benign
X0026:Dsg1c UTSW 18 20,416,315 (GRCm39) missense probably damaging 1.00
Z1176:Dsg1c UTSW 18 20,416,630 (GRCm39) missense probably damaging 1.00
Z1177:Dsg1c UTSW 18 20,398,006 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16