Incidental Mutation 'IGL01412:Dsg1c'
ID80071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsg1c
Ensembl Gene ENSMUSG00000034774
Gene Namedesmoglein 1 gamma
SynonymsDsg6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01412
Quality Score
Status
Chromosome18
Chromosomal Location20247340-20285031 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20247461 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 8 (I8V)
Ref Sequence ENSEMBL: ENSMUSP00000054799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054128]
Predicted Effect probably benign
Transcript: ENSMUST00000054128
AA Change: I8V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: I8V

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik G A 15: 12,815,872 Q222* probably null Het
Adamts2 A G 11: 50,795,403 E1016G probably benign Het
Agmo G A 12: 37,402,141 E269K possibly damaging Het
Agrn A T 4: 156,171,034 probably benign Het
Alpk1 A T 3: 127,679,972 L794Q possibly damaging Het
Asb14 T A 14: 26,915,065 L588H probably damaging Het
Btbd16 A T 7: 130,805,819 probably null Het
Cacna1h T C 17: 25,391,950 K625E probably benign Het
Cdh23 T C 10: 60,314,694 D2499G probably damaging Het
Cdhr2 A T 13: 54,725,894 D687V probably damaging Het
Cops8 G T 1: 90,604,431 L45F possibly damaging Het
D130043K22Rik A G 13: 24,887,860 H929R probably damaging Het
Dnah12 A G 14: 26,771,005 E1241G probably damaging Het
Dock4 T A 12: 40,730,041 probably benign Het
Dst T C 1: 34,242,620 V5435A probably benign Het
Fat4 A G 3: 38,891,181 I1408V probably benign Het
Fhit G T 14: 9,870,065 H72N probably damaging Het
Foxp2 C A 6: 15,376,758 probably benign Het
Fpgt T C 3: 155,086,722 Q556R probably benign Het
Galntl6 T A 8: 57,777,294 E30V probably damaging Het
Gemin4 A T 11: 76,213,485 V150D probably benign Het
Gm13101 A C 4: 143,964,995 V386G probably damaging Het
Grm8 C T 6: 27,762,461 R255H probably damaging Het
Hapln3 G A 7: 79,117,436 probably null Het
Htt T A 5: 34,898,572 L2609Q probably damaging Het
Igdcc4 A G 9: 65,114,449 probably benign Het
Isx T C 8: 74,892,678 L166P probably benign Het
Kcnt2 G A 1: 140,570,417 M884I probably benign Het
Leo1 A G 9: 75,466,242 N650D probably benign Het
Man1a A G 10: 54,074,714 V195A probably benign Het
Map2k5 A T 9: 63,293,706 I215N probably damaging Het
Mier2 A G 10: 79,541,180 *542R probably null Het
Mrgbp T A 2: 180,583,416 F55Y probably damaging Het
Mum1 T A 10: 80,234,329 probably null Het
Nadsyn1 A T 7: 143,808,790 probably null Het
Nedd9 A T 13: 41,315,786 Y630* probably null Het
Nrp1 T C 8: 128,418,707 probably benign Het
Olfr1141 A T 2: 87,753,117 L292Q probably damaging Het
Olfr617 A G 7: 103,584,907 N295S probably damaging Het
Olfr638 T A 7: 104,003,635 M120K probably damaging Het
Olfr725 A G 14: 50,035,313 I30T probably benign Het
Olfr836 T A 9: 19,121,599 C212S probably benign Het
Pcnx A T 12: 81,906,465 I127F probably damaging Het
Pik3ap1 T C 19: 41,375,890 E130G possibly damaging Het
Pkd1l1 G T 11: 8,950,409 T44N possibly damaging Het
Polr1c A G 17: 46,244,209 S226P probably damaging Het
Prep A G 10: 45,153,112 Y536C probably damaging Het
Ptprb A G 10: 116,343,915 T1413A probably benign Het
Ryr2 T A 13: 11,742,036 K1577N probably benign Het
Selplg G T 5: 113,819,468 T33K probably damaging Het
Slc26a5 T A 5: 21,815,736 I505L probably damaging Het
Slc39a6 T C 18: 24,585,356 N548S probably damaging Het
Sp7 T C 15: 102,359,363 T3A possibly damaging Het
Tango6 T C 8: 106,818,499 V998A probably benign Het
Tas2r130 A T 6: 131,630,510 Y107* probably null Het
Tjp2 T C 19: 24,100,775 E918G probably damaging Het
Trim12a C T 7: 104,306,995 A113T probably benign Het
Zan T A 5: 137,393,032 D4730V unknown Het
Zfp607a A T 7: 27,878,684 D393V probably damaging Het
Other mutations in Dsg1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Dsg1c APN 18 20274676 missense probably damaging 1.00
IGL00596:Dsg1c APN 18 20281842 splice site probably benign
IGL02037:Dsg1c APN 18 20276950 missense probably benign 0.02
IGL02247:Dsg1c APN 18 20264316 missense probably damaging 1.00
IGL02386:Dsg1c APN 18 20276999 missense probably benign
IGL02408:Dsg1c APN 18 20274719 missense probably damaging 1.00
IGL02519:Dsg1c APN 18 20283733 missense probably damaging 1.00
IGL02591:Dsg1c APN 18 20275192 missense probably damaging 1.00
IGL02730:Dsg1c APN 18 20274830 missense probably damaging 1.00
IGL02836:Dsg1c APN 18 20267929 missense probably benign 0.07
IGL03335:Dsg1c APN 18 20283697 missense probably benign 0.01
R0385:Dsg1c UTSW 18 20283654 missense probably damaging 1.00
R0561:Dsg1c UTSW 18 20274775 missense probably benign 0.04
R0570:Dsg1c UTSW 18 20270378 missense probably damaging 1.00
R0573:Dsg1c UTSW 18 20279241 missense probably benign 0.02
R0621:Dsg1c UTSW 18 20279695 missense possibly damaging 0.62
R0632:Dsg1c UTSW 18 20272346 splice site probably benign
R1183:Dsg1c UTSW 18 20283198 missense probably damaging 1.00
R1529:Dsg1c UTSW 18 20282023 missense probably damaging 1.00
R1596:Dsg1c UTSW 18 20282047 missense probably damaging 1.00
R1619:Dsg1c UTSW 18 20264842 missense probably benign 0.36
R1623:Dsg1c UTSW 18 20275177 missense probably damaging 1.00
R1844:Dsg1c UTSW 18 20283039 splice site probably null
R1881:Dsg1c UTSW 18 20272540 splice site probably benign
R2017:Dsg1c UTSW 18 20266196 missense possibly damaging 0.67
R2072:Dsg1c UTSW 18 20275252 missense probably benign 0.09
R2319:Dsg1c UTSW 18 20275178 missense probably damaging 1.00
R2340:Dsg1c UTSW 18 20267888 missense probably damaging 1.00
R3403:Dsg1c UTSW 18 20270350 missense probably damaging 1.00
R3407:Dsg1c UTSW 18 20282058 critical splice donor site probably null
R3874:Dsg1c UTSW 18 20277052 missense probably benign 0.02
R3910:Dsg1c UTSW 18 20266196 missense possibly damaging 0.67
R4535:Dsg1c UTSW 18 20275265 missense probably benign 0.01
R4739:Dsg1c UTSW 18 20275189 missense possibly damaging 0.95
R5038:Dsg1c UTSW 18 20264844 missense probably benign 0.00
R5165:Dsg1c UTSW 18 20277023 missense probably damaging 1.00
R5210:Dsg1c UTSW 18 20274701 missense probably damaging 0.97
R5253:Dsg1c UTSW 18 20272379 missense probably damaging 1.00
R5327:Dsg1c UTSW 18 20267937 missense possibly damaging 0.75
R5361:Dsg1c UTSW 18 20283646 missense possibly damaging 0.94
R5475:Dsg1c UTSW 18 20282031 missense probably damaging 0.99
R5512:Dsg1c UTSW 18 20272511 missense probably damaging 1.00
R5681:Dsg1c UTSW 18 20283213 missense probably damaging 1.00
R5710:Dsg1c UTSW 18 20272351 missense probably benign 0.06
R5889:Dsg1c UTSW 18 20283601 missense possibly damaging 0.87
R6513:Dsg1c UTSW 18 20274630 missense probably benign 0.01
R6596:Dsg1c UTSW 18 20270524 intron probably null
R6941:Dsg1c UTSW 18 20267923 missense probably damaging 0.96
R7041:Dsg1c UTSW 18 20266144 missense probably damaging 1.00
R7061:Dsg1c UTSW 18 20277009 missense probably benign
R7240:Dsg1c UTSW 18 20283109 missense probably damaging 1.00
X0026:Dsg1c UTSW 18 20283258 missense probably damaging 1.00
Posted On2013-11-05