Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03335:Dsg1c'

416985

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 #

IGL03335

Quality Score

Status

Chromosome

Chromosomal Location

20380397-20418088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20416754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 885 (R885Q)

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054128]

AlphaFold

Q7TSF0

Predicted Effect

probably benign
Transcript: ENSMUST00000054128
AA Change: R885Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: R885Q

Domain	Start	End	E-Value	Type
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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,985,258 (GRCm39)	V713A	probably benign	Het
Abtb3	A	T	10: 85,494,222 (GRCm39)		probably benign	Het
Actr8	T	C	14: 29,700,514 (GRCm39)	V31A	probably benign	Het
Alcam	A	C	16: 52,111,366 (GRCm39)	Y244*	probably null	Het
Ankrd24	A	G	10: 81,482,967 (GRCm39)	S972G	probably benign	Het
Aox1	T	A	1: 58,115,319 (GRCm39)	V768E	probably damaging	Het
Carmil2	A	G	8: 106,423,661 (GRCm39)	I1212V	probably benign	Het
Catsper1	C	T	19: 5,386,339 (GRCm39)	R191C	probably damaging	Het
Cenpe	T	A	3: 134,949,386 (GRCm39)	V57D	probably benign	Het
Cpsf3	T	C	12: 21,356,888 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,365,140 (GRCm39)	S1633P	probably damaging	Het
Egfl6	C	A	X: 165,321,689 (GRCm39)	G272W	probably damaging	Het
Ermard	T	C	17: 15,279,668 (GRCm39)	L486P	probably damaging	Het
F13b	A	T	1: 139,450,124 (GRCm39)	L595F	probably damaging	Het
Foxm1	A	G	6: 128,349,531 (GRCm39)	N350S	possibly damaging	Het
Fras1	T	C	5: 96,881,803 (GRCm39)		probably benign	Het
Gpr152	C	A	19: 4,193,770 (GRCm39)	T437N	possibly damaging	Het
Icmt	T	A	4: 152,385,154 (GRCm39)	Y205*	probably null	Het
Ints8	A	T	4: 11,216,460 (GRCm39)	F844I	probably damaging	Het
Mep1a	T	A	17: 43,788,064 (GRCm39)	D664V	possibly damaging	Het
Muc4	T	A	16: 32,574,449 (GRCm39)	N966K	probably benign	Het
Myo7b	T	A	18: 32,118,073 (GRCm39)	Q851L	possibly damaging	Het
Pdzd2	T	C	15: 12,373,850 (GRCm39)	H2095R	probably benign	Het
Phldb1	A	G	9: 44,639,366 (GRCm39)	L4P	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pnpla8	T	A	12: 44,329,947 (GRCm39)	N166K	probably benign	Het
Qrfprl	T	C	6: 65,430,101 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 79,006,492 (GRCm39)	M137T	probably damaging	Het
Rbm15b	G	A	9: 106,761,538 (GRCm39)	H877Y	probably damaging	Het
Rbm45	T	C	2: 76,206,777 (GRCm39)	L263P	probably damaging	Het
Rprd1b	T	C	2: 157,916,884 (GRCm39)	V288A	probably damaging	Het
Tmtc3	C	A	10: 100,302,116 (GRCm39)	V278L	probably damaging	Het
Tomm70a	A	G	16: 56,970,289 (GRCm39)	T556A	probably damaging	Het
Trpc7	T	C	13: 57,035,504 (GRCm39)	E143G	probably damaging	Het
Trpm3	G	T	19: 22,903,435 (GRCm39)		probably null	Het
Ugt2b34	T	C	5: 87,054,499 (GRCm39)	E94G	probably benign	Het
Vmn1r174	T	C	7: 23,453,937 (GRCm39)	V201A	probably benign	Het
Zfp352	T	C	4: 90,112,583 (GRCm39)	F241S	probably damaging	Het

Other mutations in Dsg1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02519:Dsg1c	APN	18	20,416,790 (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
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

2016-08-02