Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00596:Dsg1c'

3383

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 #

IGL00596

Quality Score

Status

Chromosome

Chromosomal Location

20380397-20418088 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 20414899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

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

AlphaFold

Q7TSF0

Predicted Effect

probably benign
Transcript: ENSMUST00000054128

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,547,030 (GRCm39)	N366K	probably damaging	Het
Adgrl3	G	A	5: 81,794,314 (GRCm39)	R445Q	probably benign	Het
Cc2d1b	T	C	4: 108,484,503 (GRCm39)	I446T	probably damaging	Het
Cdhr2	A	T	13: 54,868,810 (GRCm39)	N591Y	probably damaging	Het
Cntnap5b	A	G	1: 100,306,886 (GRCm39)	R868G	possibly damaging	Het
Dkk2	A	T	3: 131,879,564 (GRCm39)	D81V	probably damaging	Het
Dym	T	A	18: 75,252,320 (GRCm39)	V362D	probably benign	Het
Epm2a	A	T	10: 11,324,384 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,510,688 (GRCm39)	A773S	possibly damaging	Het
Iars2	A	G	1: 185,048,151 (GRCm39)	V527A	probably benign	Het
Kcnj16	T	C	11: 110,915,349 (GRCm39)	Y4H	probably damaging	Het
Krt6a	T	A	15: 101,602,665 (GRCm39)	I7F	possibly damaging	Het
Myo6	T	G	9: 80,189,025 (GRCm39)	F757V	possibly damaging	Het
Nbeal1	T	C	1: 60,220,900 (GRCm39)	L13P	probably damaging	Het
Nr2c2	A	T	6: 92,126,700 (GRCm39)	K63M	probably damaging	Het
Pcdh15	G	A	10: 74,466,576 (GRCm39)	G1511D	probably benign	Het
Pomgnt2	A	T	9: 121,812,191 (GRCm39)	W197R	probably benign	Het
Rint1	G	A	5: 24,016,863 (GRCm39)	V543M	probably damaging	Het
Rnd2	G	A	11: 101,362,017 (GRCm39)	R190H	possibly damaging	Het
Sh3rf3	A	G	10: 58,885,178 (GRCm39)	S354G	probably benign	Het
Slc10a2	T	C	8: 5,141,680 (GRCm39)	I235V	probably benign	Het
Steap4	G	A	5: 8,026,979 (GRCm39)	R314H	probably damaging	Het
Ticrr	A	C	7: 79,327,041 (GRCm39)	N583T	probably damaging	Het
Tmem25	T	A	9: 44,706,816 (GRCm39)		probably benign	Het
Vps8	C	T	16: 21,267,162 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,345,226 (GRCm39)	K2489R	probably benign	Het
Xlr4b	T	A	X: 72,263,577 (GRCm39)		probably benign	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
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
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

2012-04-20