Mutagenetix > Incidental Mutation

Incidental Mutation 'R4747:Dsc1'

357237

Institutional Source

Beutler Lab

Gene Symbol

Dsc1

Ensembl Gene

ENSMUSG00000044322

Gene Name

desmocollin 1

Synonyms

Dsc1a, Dsc1b

MMRRC Submission

042029-MU

Accession Numbers

Essential gene?

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

Stock #

R4747 (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 20227615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 541 (K541R)

Ref Sequence

ENSEMBL: ENSMUSP00000153639 (fasta)

Gene Model

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

AlphaFold

P55849

Predicted Effect

probably benign
Transcript: ENSMUST00000038710
AA Change: K541R

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: K541R

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: K541R

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: 97.0%
20x: 94.4%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402D24Rik	A	G	1: 63,795,568 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,903,334 (GRCm39)	N340K	probably damaging	Het
Adgrl4	T	A	3: 151,213,077 (GRCm39)	N372K	probably benign	Het
Adh1	G	A	3: 137,994,642 (GRCm39)	G321S	probably damaging	Het
Ankrd26	G	T	6: 118,504,718 (GRCm39)	N730K	probably benign	Het
Aoc2	A	T	11: 101,219,646 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,762,355 (GRCm39)	E537G	unknown	Het
Ccdc7b	T	C	8: 129,904,716 (GRCm39)	V118A	probably benign	Het
Ccdc88b	T	A	19: 6,833,509 (GRCm39)	R219W	probably damaging	Het
Ccdc97	T	C	7: 25,418,348 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,625,922 (GRCm39)	C792S	probably damaging	Het
Ciao3	A	T	17: 25,999,327 (GRCm39)	Y247F	probably benign	Het
Cnot1	T	C	8: 96,501,310 (GRCm39)	N86S	probably benign	Het
Comp	T	C	8: 70,829,352 (GRCm39)	C310R	probably damaging	Het
Crtc2	A	T	3: 90,167,518 (GRCm39)	N281Y	probably damaging	Het
Cryl1	T	C	14: 57,550,559 (GRCm39)	K102E	probably damaging	Het
Csf2ra	G	A	19: 61,214,491 (GRCm39)	R225*	probably null	Het
Dao	A	T	5: 114,150,693 (GRCm39)	D99V	probably benign	Het
Dgkd	A	G	1: 87,861,889 (GRCm39)	T815A	probably damaging	Het
Dhrs7	T	C	12: 72,699,892 (GRCm39)	T247A	probably benign	Het
Dnah7c	G	C	1: 46,572,328 (GRCm39)	D934H	probably damaging	Het
Dnajc15	T	C	14: 78,081,896 (GRCm39)	Y82C	probably benign	Het
Dnajc4	T	C	19: 6,966,872 (GRCm39)	Q152R	probably damaging	Het
Elp4	G	A	2: 105,624,952 (GRCm39)	R196C	probably damaging	Het
Epha8	GC	G	4: 136,666,006 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,291,864 (GRCm39)	V1076A	probably benign	Het
Fgd4	T	C	16: 16,241,793 (GRCm39)	Y677C	probably damaging	Het
Fndc3b	C	A	3: 27,483,114 (GRCm39)	C1028F	probably damaging	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Gabrr3	T	A	16: 59,268,277 (GRCm39)		probably null	Het
Garem1	C	A	18: 21,263,000 (GRCm39)	V605L	probably benign	Het
Gbp7	A	T	3: 142,248,778 (GRCm39)	D347V	probably damaging	Het
Gdpd4	A	G	7: 97,610,840 (GRCm39)	T87A	possibly damaging	Het
Gm12258	C	A	11: 58,750,422 (GRCm39)	H532Q	probably damaging	Het
Herc2	A	G	7: 55,756,141 (GRCm39)	E727G	possibly damaging	Het
Hfm1	G	A	5: 107,065,389 (GRCm39)	H97Y	probably benign	Het
Idua	G	T	5: 108,828,902 (GRCm39)	R335L	probably damaging	Het
Ifi207	A	G	1: 173,556,633 (GRCm39)	S702P	probably benign	Het
Kif16b	A	T	2: 142,699,346 (GRCm39)	V78D	probably damaging	Het
Klra17	T	A	6: 129,849,232 (GRCm39)	D114V	probably damaging	Het
Krt76	A	G	15: 101,794,180 (GRCm39)	S481P	probably damaging	Het
Lhfpl5	A	G	17: 28,798,950 (GRCm39)	D153G	probably damaging	Het
Med21	T	A	6: 146,550,700 (GRCm39)	D70E	possibly damaging	Het
Mroh3	A	T	1: 136,113,237 (GRCm39)	M739K	probably benign	Het
Myo1a	A	G	10: 127,550,307 (GRCm39)	E549G	probably damaging	Het
Neu1	A	G	17: 35,153,359 (GRCm39)	D294G	possibly damaging	Het
Nmur2	A	T	11: 55,931,105 (GRCm39)	I202K	probably benign	Het
Nop2	T	A	6: 125,114,057 (GRCm39)	D174E	probably benign	Het
Ogfr	A	T	2: 180,236,216 (GRCm39)	H267L	probably damaging	Het
Or10p1	G	T	10: 129,444,053 (GRCm39)	A99E	possibly damaging	Het
Or5m8	A	G	2: 85,822,271 (GRCm39)	T37A	probably damaging	Het
P2ry13	T	A	3: 59,117,308 (GRCm39)	I157F	probably benign	Het
Pank4	T	C	4: 155,063,989 (GRCm39)	V660A	probably damaging	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdhb13	T	C	18: 37,577,868 (GRCm39)	Y749H	probably damaging	Het
Pcdhga3	C	A	18: 37,809,799 (GRCm39)	Q751K	probably benign	Het
Pcnt	C	T	10: 76,272,299 (GRCm39)	E186K	possibly damaging	Het
Pecam1	A	T	11: 106,575,072 (GRCm39)	F613I	probably benign	Het
Pias2	T	C	18: 77,240,488 (GRCm39)	*615Q	probably null	Het
Plb1	A	T	5: 32,507,003 (GRCm39)	M1193L	probably benign	Het
Pomgnt1	T	C	4: 116,013,396 (GRCm39)	L506P	probably damaging	Het
Qrfp	T	C	2: 31,698,852 (GRCm39)	T27A	probably damaging	Het
Relb	C	A	7: 19,361,847 (GRCm39)		probably null	Het
Resf1	A	T	6: 149,228,392 (GRCm39)	E479D	probably damaging	Het
Rgl1	G	T	1: 152,400,450 (GRCm39)	C685*	probably null	Het
Ric8b	A	G	10: 84,753,628 (GRCm39)	Y8C	probably benign	Het
Rrp36	G	A	17: 46,980,893 (GRCm39)	A161V	possibly damaging	Het
Samd9l	G	A	6: 3,375,504 (GRCm39)	Q586*	probably null	Het
Sbf1	C	T	15: 89,186,916 (GRCm39)	D821N	probably damaging	Het
Septin8	G	C	11: 53,427,545 (GRCm39)	A255P	probably damaging	Het
Skp2	T	C	15: 9,113,927 (GRCm39)	T329A	possibly damaging	Het
Slc15a2	C	T	16: 36,592,498 (GRCm39)	V220M	probably damaging	Het
Slc25a11	T	A	11: 70,536,782 (GRCm39)	T63S	possibly damaging	Het
Sowahc	T	C	10: 59,058,983 (GRCm39)	I373T	probably benign	Het
Sptbn2	T	A	19: 4,798,182 (GRCm39)	M1969K	probably benign	Het
St14	G	A	9: 31,015,053 (GRCm39)	T315M	possibly damaging	Het
Tagap	G	A	17: 8,151,030 (GRCm39)	R284H	probably benign	Het
Tdpoz3	T	A	3: 93,733,476 (GRCm39)	S50R	possibly damaging	Het
Thoc5	A	G	11: 4,854,187 (GRCm39)	D182G	probably damaging	Het
Tinag	A	G	9: 76,904,238 (GRCm39)	V395A	probably benign	Het
Tmc8	A	G	11: 117,683,550 (GRCm39)	S702G	probably benign	Het
Tmem202	A	G	9: 59,426,477 (GRCm39)	S230P	possibly damaging	Het
Tmem203	T	C	2: 25,145,764 (GRCm39)	V28A	probably benign	Het
Traf3ip1	A	T	1: 91,455,479 (GRCm39)	S647C	probably damaging	Het
Tram1	A	T	1: 13,659,870 (GRCm39)	I26N	probably damaging	Het
Ttc6	A	T	12: 57,721,478 (GRCm39)	D989V	possibly damaging	Het
Ttll6	A	G	11: 96,036,372 (GRCm39)	T334A	possibly damaging	Het
Ttn	A	T	2: 76,750,086 (GRCm39)	D3654E	probably damaging	Het
Ufd1	T	G	16: 18,639,832 (GRCm39)	V112G	probably damaging	Het
Usp9y	A	T	Y: 1,391,284 (GRCm39)	Y629N	possibly damaging	Het
Vmn2r1	A	G	3: 63,989,267 (GRCm39)	I69V	probably benign	Het
Zfp180	A	T	7: 23,805,246 (GRCm39)	Y555F	probably damaging	Het
Zfp438	T	C	18: 5,214,403 (GRCm39)	N185S	probably benign	Het
Zfp445	C	T	9: 122,686,215 (GRCm39)	V15I	possibly damaging	Het
Zfp462	A	G	4: 55,013,476 (GRCm39)	E1814G	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
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'- ACCGGGCACTAAATGGATG -3'
(R):5'- GAAAACTCCTGCATCTTCCTTGG -3'

Sequencing Primer
(F):5'- TGATCGGACTGAAATGAGCTATC -3'
(R):5'- GCATCTTCCTTGGATCATGAAC -3'

Posted On

2015-11-11