Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02365:Dsc1'

290701

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: 0.086) question?

Stock #

IGL02365

Quality Score

Status

Chromosome

Chromosomal Location

20217241-20247928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20241873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 156 (Q156R)

Ref Sequence

ENSEMBL: ENSMUSP00000153639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038710] [ENSMUST00000224432] [ENSMUST00000226115]

AlphaFold

P55849

Predicted Effect

probably damaging
Transcript: ENSMUST00000038710
AA Change: Q156R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: Q156R

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: Q156R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224557

Predicted Effect

probably benign
Transcript: ENSMUST00000226115

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	A	T	11: 30,599,318 (GRCm39)	V21E	probably damaging	Het
Adgrl3	A	G	5: 81,660,428 (GRCm39)	D331G	probably damaging	Het
Arfgef1	A	T	1: 10,270,108 (GRCm39)	I347N	probably benign	Het
Bfsp1	T	G	2: 143,668,656 (GRCm39)	E647A	probably damaging	Het
Bhmt	A	T	13: 93,754,146 (GRCm39)	N354K	probably benign	Het
Brinp3	A	T	1: 146,776,860 (GRCm39)	T436S	probably benign	Het
Capza1b	T	C	X: 168,559,526 (GRCm39)	N272D	probably benign	Het
Cog7	C	A	7: 121,576,959 (GRCm39)	M66I	possibly damaging	Het
Csf2rb2	A	T	15: 78,171,260 (GRCm39)	M333K	possibly damaging	Het
Cyp2u1	A	G	3: 131,091,878 (GRCm39)	V214A	probably damaging	Het
Dcaf5	A	T	12: 80,445,547 (GRCm39)	H177Q	probably benign	Het
Dchs1	T	C	7: 105,404,395 (GRCm39)	T2716A	probably benign	Het
Dspp	G	T	5: 104,323,927 (GRCm39)	G357W	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fto	T	G	8: 92,195,003 (GRCm39)	S265R	probably damaging	Het
Gphb5	A	G	12: 75,462,591 (GRCm39)		probably benign	Het
Iars1	T	C	13: 49,844,975 (GRCm39)	V162A	probably benign	Het
Klk13	A	C	7: 43,373,290 (GRCm39)	K107T	possibly damaging	Het
Kpna7	T	A	5: 144,922,543 (GRCm39)	D507V	possibly damaging	Het
Lamb1	A	T	12: 31,368,344 (GRCm39)	E1158V	probably damaging	Het
Lonp2	A	T	8: 87,442,993 (GRCm39)	D818V	possibly damaging	Het
Med15	A	G	16: 17,489,470 (GRCm39)		probably benign	Het
Or5p51	T	A	7: 107,444,119 (GRCm39)	N274Y	probably damaging	Het
Or6c69b	T	C	10: 129,627,404 (GRCm39)	D18G	possibly damaging	Het
Or8g52	A	T	9: 39,630,970 (GRCm39)	Y149F	possibly damaging	Het
Or8g52	G	A	9: 39,631,396 (GRCm39)	S291N	probably damaging	Het
Plpbp	A	G	8: 27,535,952 (GRCm39)	I82V	probably benign	Het
Ptprcap	A	G	19: 4,206,267 (GRCm39)	I117V	probably benign	Het
Rhox12	T	A	X: 37,196,758 (GRCm39)	D88V	possibly damaging	Het
Rnpc3	A	G	3: 113,402,048 (GRCm39)	S500P	probably damaging	Het
Sdhd	A	T	9: 50,510,125 (GRCm39)	Y84N	possibly damaging	Het
Sema6d	G	A	2: 124,498,788 (GRCm39)	V233I	probably benign	Het
Vegfb	A	T	19: 6,962,855 (GRCm39)	I140N	probably benign	Het
Vldlr	A	G	19: 27,223,025 (GRCm39)	Y732C	probably damaging	Het
Vmn2r17	T	A	5: 109,601,175 (GRCm39)	F824L	probably damaging	Het
Xdh	A	T	17: 74,250,885 (GRCm39)	N22K	probably benign	Het
Zc3h11a	A	C	1: 133,565,151 (GRCm39)	N249K	probably benign	Het
Zwilch	T	A	9: 64,068,206 (GRCm39)	D203V	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
IGL01458:Dsc1	APN	18	20,232,195 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16