Incidental Mutation 'IGL00972:Dsc1'
ID29452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsc1
Ensembl Gene ENSMUSG00000044322
Gene Namedesmocollin 1
SynonymsDsc1a, Dsc1b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL00972
Quality Score
Status
Chromosome18
Chromosomal Location20084184-20114871 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 20088363 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 685 (P685L)
Ref Sequence ENSEMBL: ENSMUSP00000153639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038710] [ENSMUST00000224432]
Predicted Effect probably benign
Transcript: ENSMUST00000038710
AA Change: P685L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: P685L

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
Cadherin_pro 29 111 2.61e-41 SMART
CA 155 240 2.78e-9 SMART
CA 264 352 5.94e-27 SMART
CA 375 470 5.27e-10 SMART
CA 493 575 1.18e-21 SMART
Blast:CA 593 672 5e-46 BLAST
transmembrane domain 692 714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224432
AA Change: P685L

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224557
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional protein. Mice lacking the encoded protein exhibit epidermal fragility together with defects of epidermal barrier and differentiation. The neonatal mice lacking the encoded protein exhibit epidermal lesions and older mice develop chronic dermatitis. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,610,691 F23L probably damaging Het
Abcf3 A T 16: 20,551,684 M320L probably damaging Het
Adam4 A T 12: 81,420,649 H399Q probably damaging Het
Ank1 A G 8: 23,141,644 K140E probably damaging Het
Atg2a G A 19: 6,254,599 C1162Y probably damaging Het
Atp2b1 T A 10: 99,015,044 I34N probably damaging Het
Bin1 A T 18: 32,424,834 E260V probably benign Het
Birc2 G A 9: 7,833,715 S255L probably benign Het
Cdc42bpa A G 1: 180,074,684 Q502R probably benign Het
Cep170 A G 1: 176,735,696 V1584A probably benign Het
Commd3 A T 2: 18,674,665 R120S probably benign Het
Cyp39a1 A T 17: 43,701,543 I304L probably benign Het
Cyp3a44 A T 5: 145,779,724 M352K possibly damaging Het
Dna2 T C 10: 62,950,823 Y117H probably benign Het
Dnah6 A G 6: 73,083,157 probably benign Het
Efna5 T A 17: 62,613,379 I168L possibly damaging Het
Ephx1 A G 1: 180,999,800 F96S probably benign Het
Fig4 A T 10: 41,251,788 I560K probably damaging Het
Fktn T A 4: 53,734,992 I210N probably damaging Het
Fmnl1 T C 11: 103,180,955 V96A probably damaging Het
Gabra1 T G 11: 42,133,626 E407D probably benign Het
Gm5277 A T 3: 78,892,286 noncoding transcript Het
H2-M10.5 A T 17: 36,773,335 E63V possibly damaging Het
Icam5 T A 9: 21,034,697 V275E probably damaging Het
Kel G A 6: 41,688,066 A588V possibly damaging Het
Klra5 T A 6: 129,906,605 E96D probably damaging Het
Limd1 C T 9: 123,480,076 T280I probably benign Het
Mul1 C A 4: 138,438,317 S95* probably null Het
Nlrp4a T C 7: 26,457,048 S733P probably benign Het
Ntn1 T A 11: 68,213,272 I517F possibly damaging Het
Ntrk3 T A 7: 78,247,322 M656L possibly damaging Het
Oacyl T G 18: 65,725,501 L226R possibly damaging Het
Olfr1314 A T 2: 112,092,094 N202K probably damaging Het
Olfr1378 A T 11: 50,969,119 M34L probably benign Het
Olfr199 A G 16: 59,216,466 I49T probably damaging Het
Pibf1 T A 14: 99,179,449 L486* probably null Het
Pla2g4c A G 7: 13,340,658 Y253C probably benign Het
Rims3 C A 4: 120,891,386 A268E probably benign Het
Rpl12 T C 2: 32,963,747 I129T probably benign Het
Rsl1 A T 13: 67,181,798 K103N probably benign Het
Scn11a A T 9: 119,793,938 W612R probably benign Het
Sdk2 G A 11: 113,854,384 T695M possibly damaging Het
Slc17a1 T A 13: 23,878,454 probably benign Het
Stam A T 2: 14,115,968 probably benign Het
Tacr3 T G 3: 134,932,355 N424K probably benign Het
Tas1r2 C T 4: 139,660,036 R240W probably damaging Het
Tle1 T C 4: 72,122,400 R648G probably damaging Het
Tmem92 T C 11: 94,782,428 D3G possibly damaging Het
Trip11 T C 12: 101,894,337 I250V probably null Het
Tspan8 C T 10: 115,844,139 probably benign Het
Vmn1r128 A G 7: 21,350,076 E235G probably benign Het
Vmn1r220 A G 13: 23,184,388 L46P probably damaging Het
Vmn2r9 T C 5: 108,849,037 E122G probably benign Het
Zfp27 A T 7: 29,894,958 N527K probably damaging Het
Other mutations in Dsc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Dsc1 APN 18 20101886 missense probably damaging 1.00
IGL00571:Dsc1 APN 18 20110138 missense probably damaging 1.00
IGL00790:Dsc1 APN 18 20094896 missense probably damaging 1.00
IGL00963:Dsc1 APN 18 20111986 missense probably null 0.01
IGL01112:Dsc1 APN 18 20094622 missense probably benign 0.02
IGL01458:Dsc1 APN 18 20099138 missense probably damaging 1.00
IGL01607:Dsc1 APN 18 20089663 missense probably damaging 1.00
IGL01794:Dsc1 APN 18 20110183 missense probably damaging 1.00
IGL01959:Dsc1 APN 18 20097225 missense probably damaging 1.00
IGL02066:Dsc1 APN 18 20108803 unclassified probably benign
IGL02365:Dsc1 APN 18 20108816 missense probably damaging 1.00
IGL02714:Dsc1 APN 18 20087485 missense probably damaging 1.00
IGL02959:Dsc1 APN 18 20108885 missense probably damaging 1.00
IGL03019:Dsc1 APN 18 20088364 missense probably benign 0.00
IGL03106:Dsc1 APN 18 20086644 splice site probably null
R0414:Dsc1 UTSW 18 20088354 missense possibly damaging 0.85
R0456:Dsc1 UTSW 18 20099112 missense probably damaging 1.00
R0612:Dsc1 UTSW 18 20114516 missense probably damaging 0.96
R0630:Dsc1 UTSW 18 20085862 missense probably damaging 1.00
R0646:Dsc1 UTSW 18 20096057 missense probably damaging 1.00
R0928:Dsc1 UTSW 18 20110249 splice site probably null
R0976:Dsc1 UTSW 18 20095041 splice site probably null
R1221:Dsc1 UTSW 18 20114542 nonsense probably null
R1398:Dsc1 UTSW 18 20088336 missense probably damaging 1.00
R1902:Dsc1 UTSW 18 20095988 missense probably damaging 1.00
R1903:Dsc1 UTSW 18 20095988 missense probably damaging 1.00
R2070:Dsc1 UTSW 18 20088296 splice site probably null
R2119:Dsc1 UTSW 18 20110152 missense probably benign 0.07
R3935:Dsc1 UTSW 18 20097241 missense probably benign 0.00
R4747:Dsc1 UTSW 18 20094558 missense probably damaging 1.00
R5034:Dsc1 UTSW 18 20095027 missense possibly damaging 0.91
R5243:Dsc1 UTSW 18 20099159 missense probably damaging 1.00
R5289:Dsc1 UTSW 18 20101853 missense possibly damaging 0.72
R5300:Dsc1 UTSW 18 20094860 missense probably damaging 1.00
R5354:Dsc1 UTSW 18 20087575 missense probably damaging 1.00
R5376:Dsc1 UTSW 18 20088446 missense probably benign 0.21
R5808:Dsc1 UTSW 18 20086829 nonsense probably null
R5860:Dsc1 UTSW 18 20095024 missense probably damaging 1.00
R6059:Dsc1 UTSW 18 20110242 missense probably damaging 0.98
R6116:Dsc1 UTSW 18 20097299 missense probably benign 0.10
R6351:Dsc1 UTSW 18 20086769 missense probably damaging 1.00
R6422:Dsc1 UTSW 18 20095033 missense probably damaging 1.00
R6811:Dsc1 UTSW 18 20089654 missense probably benign
R6880:Dsc1 UTSW 18 20088372 missense probably damaging 0.99
R6941:Dsc1 UTSW 18 20097189 missense probably benign 0.00
R6997:Dsc1 UTSW 18 20086644 splice site probably null
R7255:Dsc1 UTSW 18 20097273 missense probably benign 0.12
R7456:Dsc1 UTSW 18 20086822 missense probably benign 0.00
R7492:Dsc1 UTSW 18 20107680 missense possibly damaging 0.46
R7503:Dsc1 UTSW 18 20085865 missense probably damaging 1.00
R8030:Dsc1 UTSW 18 20089571 missense probably benign
Z1176:Dsc1 UTSW 18 20114538 missense probably benign 0.15
Posted On2013-04-17