Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01458:Dsc1'

84875

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsc1

Ensembl Gene

ENSMUSG00000044322

Gene Name

desmocollin 1

Synonyms

Dsc1a, Dsc1b

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL01458

Quality Score

Status

Chromosome

Chromosomal Location

20084184-20114871 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20099138 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 271 (E271G)

Ref Sequence

ENSEMBL: ENSMUSP00000153639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038710] [ENSMUST00000224432]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038710
AA Change: E271G

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

SMART Domains

Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: E271G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000224432
AA Change: E271G

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	A	T	9: 3,134,008		noncoding transcript	Het
Akap12	A	G	10: 4,354,060	E290G	probably damaging	Het
Akap6	T	A	12: 52,886,818	C364*	probably null	Het
Akr1c18	A	T	13: 4,137,144	Y198N	probably damaging	Het
Aurka	T	C	2: 172,368,979		probably benign	Het
Bloc1s6	T	A	2: 122,744,215		probably null	Het
Clca1	C	T	3: 145,007,778	M697I	probably benign	Het
Csn2	T	C	5: 87,696,020		probably benign	Het
Evi5	G	A	5: 107,815,647	A354V	probably damaging	Het
Fcer2a	T	A	8: 3,688,151	R137S	probably benign	Het
Fto	A	G	8: 91,441,716	T266A	probably benign	Het
Fzd4	G	A	7: 89,404,735	V17I	unknown	Het
Gadd45b	T	C	10: 80,931,241	L105P	probably damaging	Het
Galntl6	T	C	8: 58,427,709	S137G	probably damaging	Het
Gm2022	A	T	12: 87,895,388	K7*	probably null	Het
Gm5771	T	G	6: 41,396,687	D161E	probably benign	Het
Gpr135	T	C	12: 72,069,668	M442V	probably benign	Het
Kcnq1	T	A	7: 143,194,278	Y330*	probably null	Het
Kdm5b	A	G	1: 134,621,986	R1106G	possibly damaging	Het
Lrrc8e	C	T	8: 4,236,141	R789W	probably damaging	Het
Myo16	T	C	8: 10,435,853	L644P	probably damaging	Het
Nbeal1	G	T	1: 60,242,625		probably null	Het
Nlrp4c	T	C	7: 6,100,784	C906R	possibly damaging	Het
Olfr1118	C	T	2: 87,309,482	T251I	probably damaging	Het
Olfr344	T	A	2: 36,568,742	L48H	probably damaging	Het
Olfr389	A	T	11: 73,776,706	I207N	probably benign	Het
Ovgp1	A	G	3: 105,974,991	N70D	probably benign	Het
Panx3	A	T	9: 37,661,147	M369K	probably damaging	Het
Plet1	A	G	9: 50,494,717	N52S	probably benign	Het
Psg18	A	T	7: 18,354,816	M1K	probably null	Het
Ptprz1	A	T	6: 22,972,844	D251V	probably damaging	Het
Serpinb6a	A	G	13: 33,930,081	Y88H	possibly damaging	Het
Siglecf	G	A	7: 43,355,138	R297Q	possibly damaging	Het
Tbx15	T	C	3: 99,316,228	V244A	probably damaging	Het
Top2a	A	T	11: 99,011,030	L458Q	probably damaging	Het
Trim39	A	G	17: 36,263,963		probably benign	Het
Vps37c	T	C	19: 10,710,417	C81R	probably damaging	Het
Wdr62	A	T	7: 30,241,762	S744T	probably benign	Het
Zyg11a	G	A	4: 108,204,902	T234I	probably damaging	Het

Other mutations in Dsc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL00972:Dsc1	APN	18	20088363	missense	probably benign	0.32
IGL01112:Dsc1	APN	18	20094622	missense	probably benign	0.02
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

Posted On

2013-11-11