Mutagenetix > Incidental Mutation

Incidental Mutation 'R0105:Cdsn'

17858

Institutional Source

Beutler Lab

Gene Symbol

Cdsn

Ensembl Gene

ENSMUSG00000039518

Gene Name

corneodesmosin

Synonyms

MMRRC Submission

038391-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0105 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

35863025-35868077 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 35867035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 521 (R521S)

Ref Sequence

ENSEMBL: ENSMUSP00000048596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044804]

AlphaFold

Q7TPC1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044804
AA Change: R521S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048596
Gene: ENSMUSG00000039518
AA Change: R521S

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	61	99	N/A	INTRINSIC
low complexity region	109	216	N/A	INTRINSIC
low complexity region	224	248	N/A	INTRINSIC
low complexity region	359	373	N/A	INTRINSIC
low complexity region	379	394	N/A	INTRINSIC
internal_repeat_1	402	427	2.86e-5	PROSPERO
low complexity region	431	438	N/A	INTRINSIC
low complexity region	441	469	N/A	INTRINSIC
internal_repeat_1	504	528	2.86e-5	PROSPERO

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 85.3%
3x: 77.7%
10x: 47.9%
20x: 15.1%

Validation Efficiency

96% (53/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with epidermal detachment. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	T	C	6: 60,379,137 (GRCm39)		noncoding transcript	Het
Adcy9	A	G	16: 4,106,252 (GRCm39)	V954A	probably damaging	Het
Aldh8a1	T	A	10: 21,271,438 (GRCm39)	M388K	probably damaging	Het
Cog3	A	G	14: 75,959,580 (GRCm39)	S591P	probably damaging	Het
Cplane1	T	A	15: 8,216,876 (GRCm39)	V698D	probably benign	Het
Crmp1	T	A	5: 37,441,479 (GRCm39)	D520E	probably damaging	Het
Ddhd1	T	C	14: 45,848,147 (GRCm39)	D507G	probably benign	Het
Dnah6	C	T	6: 73,132,262 (GRCm39)	A1147T	probably damaging	Het
Dsg2	T	C	18: 20,735,111 (GRCm39)	S1030P	probably benign	Het
Fam20b	T	C	1: 156,518,140 (GRCm39)	E218G	probably damaging	Het
Gab2	T	C	7: 96,948,279 (GRCm39)	Y290H	probably damaging	Het
Gm973	A	G	1: 59,621,633 (GRCm39)	Q591R	probably null	Het
Gsdmc2	T	C	15: 63,700,026 (GRCm39)	T249A	probably benign	Het
Il15ra	T	A	2: 11,735,459 (GRCm39)		probably null	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Krt76	T	C	15: 101,793,347 (GRCm39)	T564A	unknown	Het
Lrrk1	G	T	7: 65,942,089 (GRCm39)	D716E	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mroh7	T	C	4: 106,568,467 (GRCm39)	T48A	possibly damaging	Het
Or4a71	T	C	2: 89,358,707 (GRCm39)	T16A	probably benign	Het
Pkhd1	G	A	1: 20,593,956 (GRCm39)	Q1386*	probably null	Het
Pla2r1	T	C	2: 60,345,325 (GRCm39)	R344G	possibly damaging	Het
Plekhg4	G	A	8: 106,108,644 (GRCm39)	V1202M	possibly damaging	Het
Ppil4	A	G	10: 7,674,210 (GRCm39)	Y118C	probably damaging	Het
Ptpn4	C	T	1: 119,615,335 (GRCm39)		probably null	Het
Reln	G	A	5: 22,253,813 (GRCm39)	R600W	probably damaging	Het
Sumf2	T	A	5: 129,878,735 (GRCm39)		probably benign	Het
Tex10	C	A	4: 48,468,957 (GRCm39)	V73F	probably damaging	Het
Tgm5	C	A	2: 120,907,493 (GRCm39)	G77W	probably damaging	Het
Tnfrsf21	T	A	17: 43,351,082 (GRCm39)		probably null	Het
Treml2	C	T	17: 48,609,856 (GRCm39)	T96I	probably damaging	Het
Zcchc17	T	A	4: 130,243,099 (GRCm39)	D28V	probably benign	Het
Zkscan6	T	A	11: 65,712,811 (GRCm39)	L248Q	probably damaging	Het

Other mutations in Cdsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Cdsn	APN	17	35,865,740 (GRCm39)	missense	unknown
IGL02851:Cdsn	APN	17	35,866,791 (GRCm39)	missense	possibly damaging	0.66
E7848:Cdsn	UTSW	17	35,867,004 (GRCm39)	missense	probably benign	0.05
R0032:Cdsn	UTSW	17	35,866,452 (GRCm39)	missense	probably damaging	1.00
R0105:Cdsn	UTSW	17	35,867,035 (GRCm39)	missense	possibly damaging	0.66
R0696:Cdsn	UTSW	17	35,866,893 (GRCm39)	missense	possibly damaging	0.46
R2070:Cdsn	UTSW	17	35,865,591 (GRCm39)	missense	probably damaging	1.00
R2071:Cdsn	UTSW	17	35,865,591 (GRCm39)	missense	probably damaging	1.00
R4975:Cdsn	UTSW	17	35,866,326 (GRCm39)	missense	possibly damaging	0.46
R5254:Cdsn	UTSW	17	35,863,099 (GRCm39)	start codon destroyed	probably null	0.99
R6061:Cdsn	UTSW	17	35,865,803 (GRCm39)	missense	unknown
R6117:Cdsn	UTSW	17	35,865,931 (GRCm39)	missense	unknown
R7828:Cdsn	UTSW	17	35,865,878 (GRCm39)	missense	unknown
R8174:Cdsn	UTSW	17	35,866,529 (GRCm39)	nonsense	probably null
R8337:Cdsn	UTSW	17	35,866,415 (GRCm39)	missense	possibly damaging	0.83
RF020:Cdsn	UTSW	17	35,865,876 (GRCm39)	small insertion	probably benign
RF023:Cdsn	UTSW	17	35,865,876 (GRCm39)	small insertion	probably benign
RF045:Cdsn	UTSW	17	35,865,865 (GRCm39)	small insertion	probably benign
Z1176:Cdsn	UTSW	17	35,866,968 (GRCm39)	missense	probably damaging	0.97
Z1176:Cdsn	UTSW	17	35,866,722 (GRCm39)	missense	possibly damaging	0.90

Posted On

2013-03-25