Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02408:Dsg1c'

292166

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 #

IGL02408

Quality Score

Status

Chromosome

Chromosomal Location

20380397-20418088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20407776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 374 (V374E)

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

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

AlphaFold

Q7TSF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000054128
AA Change: V374E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: V374E

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,621,130 (GRCm39)	Y278C	probably damaging	Het
Abcd2	A	G	15: 91,062,444 (GRCm39)	L498P	possibly damaging	Het
Acot11	A	G	4: 106,615,578 (GRCm39)	F271S	probably damaging	Het
Acr	T	A	15: 89,454,217 (GRCm39)	Y185N	probably damaging	Het
Adcy10	C	T	1: 165,365,949 (GRCm39)	R489C	probably damaging	Het
Arsb	A	G	13: 93,930,670 (GRCm39)	T213A	probably benign	Het
Atg2a	T	A	19: 6,291,858 (GRCm39)	C11*	probably null	Het
B3galt6	A	T	4: 156,076,152 (GRCm39)	Y308N	probably damaging	Het
Cd226	A	G	18: 89,225,451 (GRCm39)	N116S	probably benign	Het
Crat	T	A	2: 30,297,146 (GRCm39)	D269V	probably damaging	Het
Crim1	T	A	17: 78,623,083 (GRCm39)	I427N	possibly damaging	Het
Dock3	T	C	9: 106,790,298 (GRCm39)		probably benign	Het
Dtl	A	G	1: 191,273,352 (GRCm39)	S519P	probably benign	Het
Fastkd1	C	T	2: 69,532,945 (GRCm39)	R474H	probably benign	Het
Fbxo10	T	C	4: 45,058,361 (GRCm39)	T459A	possibly damaging	Het
Frmd4b	A	G	6: 97,272,770 (GRCm39)	L828P	probably damaging	Het
Gc	T	C	5: 89,593,255 (GRCm39)	S55G	probably benign	Het
Gm6455	T	G	5: 10,917,257 (GRCm39)		noncoding transcript	Het
Gnai2	T	C	9: 107,493,393 (GRCm39)	T280A	probably benign	Het
Hmgn2	A	G	4: 133,693,260 (GRCm39)		probably null	Het
Jmjd1c	G	T	10: 67,062,161 (GRCm39)	A1505S	probably benign	Het
Lrriq1	T	C	10: 102,982,142 (GRCm39)	K1393E	probably benign	Het
Mcam	A	G	9: 44,051,547 (GRCm39)	N469D	probably benign	Het
Mrpl47	A	G	3: 32,790,789 (GRCm39)		probably null	Het
Mslnl	C	T	17: 25,966,972 (GRCm39)	A659V	possibly damaging	Het
Nlrp1a	A	G	11: 71,013,456 (GRCm39)	V598A	probably benign	Het
Npff	A	T	15: 102,433,000 (GRCm39)	L15Q	probably null	Het
Obsl1	G	T	1: 75,481,890 (GRCm39)	Q327K	probably damaging	Het
Or13a18	T	C	7: 140,190,844 (GRCm39)	V255A	probably damaging	Het
Or4c58	T	A	2: 89,675,315 (GRCm39)	M1L	probably benign	Het
Or52s1b	T	C	7: 102,822,658 (GRCm39)	Y62C	probably damaging	Het
Or7e165	A	T	9: 19,694,711 (GRCm39)	Y94F	probably benign	Het
Or8b50	G	A	9: 38,518,417 (GRCm39)	G219S	possibly damaging	Het
Pdzd2	T	A	15: 12,375,851 (GRCm39)	H1428L	probably benign	Het
Phldb1	T	C	9: 44,627,203 (GRCm39)	E414G	possibly damaging	Het
Reln	T	C	5: 22,106,617 (GRCm39)	D3251G	probably benign	Het
Secisbp2l	G	T	2: 125,582,789 (GRCm39)	S889*	probably null	Het
Setx	T	A	2: 29,023,942 (GRCm39)	C133S	probably damaging	Het
Slc22a29	A	C	19: 8,184,649 (GRCm39)	S214A	probably benign	Het
Slc30a5	A	C	13: 100,950,232 (GRCm39)	L285R	probably damaging	Het
Taar7a	T	G	10: 23,868,500 (GRCm39)	I294L	probably benign	Het
Tfap2b	T	A	1: 19,304,485 (GRCm39)	F414I	probably damaging	Het
Trpc4ap	A	T	2: 155,512,989 (GRCm39)	Y129N	possibly damaging	Het
Vmn2r94	T	C	17: 18,473,523 (GRCm39)	E501G	probably benign	Het
Xpot	T	C	10: 121,439,070 (GRCm39)	H709R	probably damaging	Het
Zfhx3	T	A	8: 109,682,004 (GRCm39)		probably benign	Het
Zscan22	T	G	7: 12,640,426 (GRCm39)	H223Q	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
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
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

2015-04-16