Mutagenetix > Incidental Mutation

Incidental Mutation 'R5300:Dsc1'

405619

Institutional Source

Beutler Lab

Gene Symbol

Dsc1

Ensembl Gene

ENSMUSG00000044322

Gene Name

desmocollin 1

Synonyms

Dsc1a, Dsc1b

MMRRC Submission

042883-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20217241-20247928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20227917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 480 (S480G)

Ref Sequence

ENSEMBL: ENSMUSP00000153639 (fasta)

Gene Model

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

AlphaFold

P55849

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038710
AA Change: S480G

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: S480G

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: S480G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224557

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	A	G	8: 23,622,517 (GRCm39)	K1644E	probably benign	Het
C7	C	A	15: 5,061,432 (GRCm39)	G306W	probably damaging	Het
Ccdc185	A	G	1: 182,575,645 (GRCm39)	V348A	probably benign	Het
Cfap58	A	T	19: 47,929,595 (GRCm39)	I19F	probably benign	Het
Dnaaf2	C	G	12: 69,245,002 (GRCm39)	V20L	probably damaging	Het
Dpy19l3	A	G	7: 35,426,735 (GRCm39)	Y58H	probably damaging	Het
Eno4	G	A	19: 58,943,982 (GRCm39)		probably null	Het
Gm136	T	G	4: 34,750,930 (GRCm39)	K114N	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc37a	T	A	11: 103,347,784 (GRCm39)	L2970F	unknown	Het
Ly86	C	T	13: 37,602,588 (GRCm39)	T160I	probably benign	Het
Mfsd4b1	A	C	10: 39,879,027 (GRCm39)	F290C	probably benign	Het
Minar1	A	T	9: 89,485,252 (GRCm39)	S48R	probably damaging	Het
Nbeal1	T	G	1: 60,274,718 (GRCm39)	Y376*	probably null	Het
Nipbl	A	T	15: 8,380,981 (GRCm39)	S604T	probably benign	Het
Pml	A	C	9: 58,154,302 (GRCm39)	N190K	probably damaging	Het
Rin3	C	A	12: 102,335,929 (GRCm39)	F533L	probably benign	Het
Scamp1	A	G	13: 94,340,670 (GRCm39)	V233A	probably damaging	Het
Sppl2c	A	T	11: 104,077,901 (GRCm39)	N234Y	possibly damaging	Het
Tfap2b	A	G	1: 19,298,677 (GRCm39)	K278R	probably damaging	Het
Tg	A	G	15: 66,550,704 (GRCm39)	Y278C	probably damaging	Het
Trdn	A	G	10: 33,071,978 (GRCm39)	E215G	probably damaging	Het
Tssk6	T	C	8: 70,355,285 (GRCm39)	S110P	probably benign	Het
Vmn2r15	A	T	5: 109,441,974 (GRCm39)	L153Q	probably damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Zfp667	A	G	7: 6,307,635 (GRCm39)	H101R	probably benign	Het
Zfp772	A	T	7: 7,207,157 (GRCm39)	M178K	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGGTTTTCAGAAAGCAAGCATGG -3'
(R):5'- CCAATATGGGGACTGATCTGTG -3'

Sequencing Primer
(F):5'- TTTTCAGAAAGCAAGCATGGAATGAC -3'
(R):5'- TTAAACAGCCACTGAACTATGAAGTC -3'

Posted On

2016-07-22