Mutagenetix > Incidental Mutation

Incidental Mutation 'R2070:Dsc1'

227094

Institutional Source

Beutler Lab

Gene Symbol

Dsc1

Ensembl Gene

ENSMUSG00000044322

Gene Name

desmocollin 1

Synonyms

Dsc1a, Dsc1b

MMRRC Submission

040075-MU

Accession Numbers

Essential gene?

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

Stock #

R2070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20217241-20247928 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 20221353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153639 (fasta)

Gene Model

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

AlphaFold

P55849

Predicted Effect

probably null
Transcript: ENSMUST00000038710

SMART Domains

Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322

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 null
Transcript: ENSMUST00000224432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224557

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Ablim2	G	A	5: 35,955,857 (GRCm39)	C24Y	probably damaging	Het
Ankle1	T	C	8: 71,861,988 (GRCm39)	F497S	probably damaging	Het
Armh3	G	T	19: 45,879,724 (GRCm39)	P543Q	probably damaging	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bmi1	A	G	2: 18,688,851 (GRCm39)	I207V	probably benign	Het
Bnip3l	A	G	14: 67,226,671 (GRCm39)	M174T	probably damaging	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccdc121	T	C	5: 31,644,727 (GRCm39)	V160A	possibly damaging	Het
Ccdc27	T	A	4: 154,126,270 (GRCm39)	N73I	unknown	Het
Cdc42bpg	T	A	19: 6,370,518 (GRCm39)	C1204S	probably damaging	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Cilp	T	A	9: 65,186,377 (GRCm39)	V824D	probably damaging	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Cntnap1	A	G	11: 101,073,805 (GRCm39)	Y652C	probably damaging	Het
Col12a1	T	C	9: 79,554,978 (GRCm39)	I2033M	probably benign	Het
Cwh43	T	C	5: 73,578,860 (GRCm39)	L289P	probably damaging	Het
Ddhd1	T	C	14: 45,848,081 (GRCm39)	D529G	probably damaging	Het
Defb28	T	A	2: 152,362,064 (GRCm39)	S75T	probably benign	Het
Dennd2a	A	T	6: 39,442,053 (GRCm39)	V939D	probably damaging	Het
Dlg5	T	C	14: 24,186,703 (GRCm39)	R1866G	probably damaging	Het
Ecscr	T	G	18: 35,848,490 (GRCm39)	N184T	probably damaging	Het
Eif4ebp1	G	T	8: 27,763,372 (GRCm39)	R55L	probably damaging	Het
Eml1	G	T	12: 108,479,258 (GRCm39)	V344L	probably damaging	Het
Exoc2	G	T	13: 30,999,353 (GRCm39)	N901K	probably benign	Het
Fam161b	T	A	12: 84,403,202 (GRCm39)	I143F	probably benign	Het
Fam180a	A	G	6: 35,302,846 (GRCm39)	S2P	probably benign	Het
Fat3	T	A	9: 15,910,666 (GRCm39)	I1779F	probably benign	Het
Fat4	A	G	3: 39,064,804 (GRCm39)	K4920R	probably benign	Het
Fsip2	T	A	2: 82,806,699 (GRCm39)	V1006E	probably damaging	Het
Glcci1	A	G	6: 8,558,566 (GRCm39)	S30G	probably damaging	Het
Gm5414	A	T	15: 101,536,495 (GRCm39)	S43R	possibly damaging	Het
Hao1	T	C	2: 134,372,535 (GRCm39)	T158A	probably damaging	Het
Hic1	T	C	11: 75,059,885 (GRCm39)	H154R	possibly damaging	Het
Hmgxb3	T	C	18: 61,304,431 (GRCm39)	Y53C	probably damaging	Het
Ipmk	A	T	10: 71,208,579 (GRCm39)	K122*	probably null	Het
Jakmip2	T	C	18: 43,696,395 (GRCm39)	E518G	probably benign	Het
Kmt2e	A	G	5: 23,706,993 (GRCm39)	T1519A	probably benign	Het
Lfng	T	C	5: 140,598,350 (GRCm39)	I224T	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Map4k5	C	T	12: 69,863,111 (GRCm39)	V629I	probably damaging	Het
Med12l	A	G	3: 59,152,326 (GRCm39)	D1037G	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mptx2	A	T	1: 173,102,145 (GRCm39)	Y181*	probably null	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,089,266 (GRCm39)	E1132G	probably benign	Het
Nedd4l	T	G	18: 65,345,891 (GRCm39)	F814L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Oit3	T	G	10: 59,266,835 (GRCm39)	I224L	probably benign	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pacs2	C	T	12: 113,024,731 (GRCm39)	T407I	probably damaging	Het
Pard6g	T	C	18: 80,160,940 (GRCm39)	I351T	probably benign	Het
Pdcl2	A	T	5: 76,472,838 (GRCm39)		probably null	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Phip	T	A	9: 82,757,352 (GRCm39)	I1607L	probably benign	Het
Plekhd1	C	A	12: 80,739,681 (GRCm39)	S10*	probably null	Het
Pramel24	T	G	4: 143,453,472 (GRCm39)	Y193*	probably null	Het
Prdm1	C	T	10: 44,317,408 (GRCm39)	D505N	possibly damaging	Het
Psmd13	T	C	7: 140,477,561 (GRCm39)	V320A	probably damaging	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rere	C	A	4: 150,699,047 (GRCm39)		probably benign	Het
Rint1	T	C	5: 24,015,927 (GRCm39)	S456P	possibly damaging	Het
Scn3a	T	C	2: 65,351,210 (GRCm39)	Q446R	possibly damaging	Het
Slitrk5	A	G	14: 111,917,621 (GRCm39)	Y415C	probably damaging	Het
Snrnp200	A	G	2: 127,054,323 (GRCm39)	E210G	possibly damaging	Het
Snrnp200	A	G	2: 127,079,803 (GRCm39)	T1891A	probably benign	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Spin1	T	C	13: 51,298,573 (GRCm39)		probably null	Het
St14	T	A	9: 31,002,669 (GRCm39)	I745F	probably damaging	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tlcd3b	T	C	7: 126,419,012 (GRCm39)	L4P	probably benign	Het
Trp53	A	G	11: 69,480,458 (GRCm39)	D278G	probably damaging	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Uty	T	C	Y: 1,169,193 (GRCm39)	E414G	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	possibly damaging	Het
Wwc2	T	C	8: 48,321,356 (GRCm39)	D586G	unknown	Het
Zfp106	T	C	2: 120,354,010 (GRCm39)	H1490R	probably benign	Het
Zswim5	T	C	4: 116,837,109 (GRCm39)	V731A	probably benign	Het
Zyg11b	G	C	4: 108,108,016 (GRCm39)	N463K	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGAGATAAATTGCCCTGG -3'
(R):5'- TCCAAATACAAGACAGGCATGG -3'

Sequencing Primer
(F):5'- TACCTCACAGCGCTGTTGAGAG -3'
(R):5'- ACAAGACAGGCATGGTTTTTCCG -3'

Posted On

2014-09-17