Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL01458

Quality Score

Status

Chromosome

Chromosomal Location

20217241-20247928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20232195 bp (GRCm39)

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]

AlphaFold

P55849

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 (GRCm39)		noncoding transcript	Het
Akap12	A	G	10: 4,304,060 (GRCm39)	E290G	probably damaging	Het
Akap6	T	A	12: 52,933,601 (GRCm39)	C364*	probably null	Het
Akr1c18	A	T	13: 4,187,143 (GRCm39)	Y198N	probably damaging	Het
Aurka	T	C	2: 172,210,899 (GRCm39)		probably benign	Het
Bloc1s6	T	A	2: 122,586,135 (GRCm39)		probably null	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Csn2	T	C	5: 87,843,879 (GRCm39)		probably benign	Het
Eif1ad4	A	T	12: 87,862,158 (GRCm39)	K7*	probably null	Het
Evi5	G	A	5: 107,963,513 (GRCm39)	A354V	probably damaging	Het
Fcer2a	T	A	8: 3,738,151 (GRCm39)	R137S	probably benign	Het
Fto	A	G	8: 92,168,344 (GRCm39)	T266A	probably benign	Het
Fzd4	G	A	7: 89,053,943 (GRCm39)	V17I	unknown	Het
Gadd45b	T	C	10: 80,767,075 (GRCm39)	L105P	probably damaging	Het
Galntl6	T	C	8: 58,880,743 (GRCm39)	S137G	probably damaging	Het
Gpr135	T	C	12: 72,116,442 (GRCm39)	M442V	probably benign	Het
Kcnq1	T	A	7: 142,748,015 (GRCm39)	Y330*	probably null	Het
Kdm5b	A	G	1: 134,549,724 (GRCm39)	R1106G	possibly damaging	Het
Lrrc8e	C	T	8: 4,286,141 (GRCm39)	R789W	probably damaging	Het
Myo16	T	C	8: 10,485,853 (GRCm39)	L644P	probably damaging	Het
Nbeal1	G	T	1: 60,281,784 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,103,783 (GRCm39)	C906R	possibly damaging	Het
Or10ag56	C	T	2: 87,139,826 (GRCm39)	T251I	probably damaging	Het
Or1e29	A	T	11: 73,667,532 (GRCm39)	I207N	probably benign	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Ovgp1	A	G	3: 105,882,307 (GRCm39)	N70D	probably benign	Het
Panx3	A	T	9: 37,572,443 (GRCm39)	M369K	probably damaging	Het
Plet1	A	G	9: 50,406,017 (GRCm39)	N52S	probably benign	Het
Prss1l	T	G	6: 41,373,621 (GRCm39)	D161E	probably benign	Het
Psg18	A	T	7: 18,088,741 (GRCm39)	M1K	probably null	Het
Ptprz1	A	T	6: 22,972,843 (GRCm39)	D251V	probably damaging	Het
Serpinb6a	A	G	13: 34,114,064 (GRCm39)	Y88H	possibly damaging	Het
Siglecf	G	A	7: 43,004,562 (GRCm39)	R297Q	possibly damaging	Het
Tbx15	T	C	3: 99,223,544 (GRCm39)	V244A	probably damaging	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Trim39	A	G	17: 36,574,855 (GRCm39)		probably benign	Het
Vps37c	T	C	19: 10,687,781 (GRCm39)	C81R	probably damaging	Het
Wdr62	A	T	7: 29,941,187 (GRCm39)	S744T	probably benign	Het
Zyg11a	G	A	4: 108,062,099 (GRCm39)	T234I	probably damaging	Het

Other mutations in Dsc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Dsc1	APN	18	20,234,943 (GRCm39)	missense	probably damaging	1.00
IGL00571:Dsc1	APN	18	20,243,195 (GRCm39)	missense	probably damaging	1.00
IGL00790:Dsc1	APN	18	20,227,953 (GRCm39)	missense	probably damaging	1.00
IGL00963:Dsc1	APN	18	20,245,043 (GRCm39)	missense	probably null	0.01
IGL00972:Dsc1	APN	18	20,221,420 (GRCm39)	missense	probably benign	0.32
IGL01112:Dsc1	APN	18	20,227,679 (GRCm39)	missense	probably benign	0.02
IGL01607:Dsc1	APN	18	20,222,720 (GRCm39)	missense	probably damaging	1.00
IGL01794:Dsc1	APN	18	20,243,240 (GRCm39)	missense	probably damaging	1.00
IGL01959:Dsc1	APN	18	20,230,282 (GRCm39)	missense	probably damaging	1.00
IGL02066:Dsc1	APN	18	20,241,860 (GRCm39)	unclassified	probably benign
IGL02365:Dsc1	APN	18	20,241,873 (GRCm39)	missense	probably damaging	1.00
IGL02714:Dsc1	APN	18	20,220,542 (GRCm39)	missense	probably damaging	1.00
IGL02959:Dsc1	APN	18	20,241,942 (GRCm39)	missense	probably damaging	1.00
IGL03019:Dsc1	APN	18	20,221,421 (GRCm39)	missense	probably benign	0.00
IGL03106:Dsc1	APN	18	20,219,701 (GRCm39)	splice site	probably null
R0414:Dsc1	UTSW	18	20,221,411 (GRCm39)	missense	possibly damaging	0.85
R0456:Dsc1	UTSW	18	20,232,169 (GRCm39)	missense	probably damaging	1.00
R0612:Dsc1	UTSW	18	20,247,573 (GRCm39)	missense	probably damaging	0.96
R0630:Dsc1	UTSW	18	20,218,919 (GRCm39)	missense	probably damaging	1.00
R0646:Dsc1	UTSW	18	20,229,114 (GRCm39)	missense	probably damaging	1.00
R0928:Dsc1	UTSW	18	20,243,306 (GRCm39)	splice site	probably null
R0976:Dsc1	UTSW	18	20,228,098 (GRCm39)	splice site	probably null
R1221:Dsc1	UTSW	18	20,247,599 (GRCm39)	nonsense	probably null
R1398:Dsc1	UTSW	18	20,221,393 (GRCm39)	missense	probably damaging	1.00
R1902:Dsc1	UTSW	18	20,229,045 (GRCm39)	missense	probably damaging	1.00
R1903:Dsc1	UTSW	18	20,229,045 (GRCm39)	missense	probably damaging	1.00
R2070:Dsc1	UTSW	18	20,221,353 (GRCm39)	splice site	probably null
R2119:Dsc1	UTSW	18	20,243,209 (GRCm39)	missense	probably benign	0.07
R3935:Dsc1	UTSW	18	20,230,298 (GRCm39)	missense	probably benign	0.00
R4747:Dsc1	UTSW	18	20,227,615 (GRCm39)	missense	probably damaging	1.00
R5034:Dsc1	UTSW	18	20,228,084 (GRCm39)	missense	possibly damaging	0.91
R5243:Dsc1	UTSW	18	20,232,216 (GRCm39)	missense	probably damaging	1.00
R5289:Dsc1	UTSW	18	20,234,910 (GRCm39)	missense	possibly damaging	0.72
R5300:Dsc1	UTSW	18	20,227,917 (GRCm39)	missense	probably damaging	1.00
R5354:Dsc1	UTSW	18	20,220,632 (GRCm39)	missense	probably damaging	1.00
R5376:Dsc1	UTSW	18	20,221,503 (GRCm39)	missense	probably benign	0.21
R5808:Dsc1	UTSW	18	20,219,886 (GRCm39)	nonsense	probably null
R5860:Dsc1	UTSW	18	20,228,081 (GRCm39)	missense	probably damaging	1.00
R6059:Dsc1	UTSW	18	20,243,299 (GRCm39)	missense	probably damaging	0.98
R6116:Dsc1	UTSW	18	20,230,356 (GRCm39)	missense	probably benign	0.10
R6351:Dsc1	UTSW	18	20,219,826 (GRCm39)	missense	probably damaging	1.00
R6422:Dsc1	UTSW	18	20,228,090 (GRCm39)	missense	probably damaging	1.00
R6811:Dsc1	UTSW	18	20,222,711 (GRCm39)	missense	probably benign
R6880:Dsc1	UTSW	18	20,221,429 (GRCm39)	missense	probably damaging	0.99
R6941:Dsc1	UTSW	18	20,230,246 (GRCm39)	missense	probably benign	0.00
R6997:Dsc1	UTSW	18	20,219,701 (GRCm39)	splice site	probably null
R7255:Dsc1	UTSW	18	20,230,330 (GRCm39)	missense	probably benign	0.12
R7456:Dsc1	UTSW	18	20,219,879 (GRCm39)	missense	probably benign	0.00
R7492:Dsc1	UTSW	18	20,240,737 (GRCm39)	missense	possibly damaging	0.46
R7503:Dsc1	UTSW	18	20,218,922 (GRCm39)	missense	probably damaging	1.00
R8030:Dsc1	UTSW	18	20,222,628 (GRCm39)	missense	probably benign
R8167:Dsc1	UTSW	18	20,230,258 (GRCm39)	missense	probably damaging	1.00
R8444:Dsc1	UTSW	18	20,222,636 (GRCm39)	missense	probably benign	0.00
R8701:Dsc1	UTSW	18	20,240,739 (GRCm39)	nonsense	probably null
R8928:Dsc1	UTSW	18	20,243,225 (GRCm39)	missense	probably benign	0.01
R9133:Dsc1	UTSW	18	20,234,904 (GRCm39)	missense	probably benign	0.00
R9144:Dsc1	UTSW	18	20,218,639 (GRCm39)	missense	possibly damaging	0.95
R9189:Dsc1	UTSW	18	20,232,214 (GRCm39)	missense	possibly damaging	0.52
R9330:Dsc1	UTSW	18	20,243,214 (GRCm39)	missense	possibly damaging	0.67
R9372:Dsc1	UTSW	18	20,221,489 (GRCm39)	missense	probably damaging	1.00
R9565:Dsc1	UTSW	18	20,240,791 (GRCm39)	missense	probably damaging	0.99
R9685:Dsc1	UTSW	18	20,232,087 (GRCm39)	missense	possibly damaging	0.88
R9702:Dsc1	UTSW	18	20,227,685 (GRCm39)	missense	probably benign	0.06
Z1176:Dsc1	UTSW	18	20,247,595 (GRCm39)	missense	probably benign	0.15

Posted On

2013-11-11