Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00434:Cdsn'

3858

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdsn

Ensembl Gene

ENSMUSG00000039518

Gene Name

corneodesmosin

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00434

Quality Score

Status

Chromosome

Chromosomal Location

35863025-35868077 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35865740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 90 (S90C)

Ref Sequence

ENSEMBL: ENSMUSP00000048596 (fasta)

Gene Model

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

AlphaFold

Q7TPC1

Predicted Effect

unknown
Transcript: ENSMUST00000044804
AA Change: S90C

SMART Domains

Protein: ENSMUSP00000048596
Gene: ENSMUSG00000039518
AA Change: S90C

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

Coding Region Coverage

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,269,181 (GRCm39)	V1098A	probably damaging	Het
Bltp1	T	C	3: 37,041,448 (GRCm39)	F2609L	probably damaging	Het
Ccdc126	C	T	6: 49,311,239 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,135,271 (GRCm39)	L54P	probably damaging	Het
Clcn6	G	T	4: 148,098,195 (GRCm39)	D581E	probably damaging	Het
Clec4f	T	A	6: 83,630,198 (GRCm39)	H120L	possibly damaging	Het
Col12a1	T	C	9: 79,560,614 (GRCm39)	T1838A	probably benign	Het
Col22a1	T	C	15: 71,878,524 (GRCm39)	D211G	possibly damaging	Het
Cpne8	T	C	15: 90,381,261 (GRCm39)		probably benign	Het
Dgkk	T	A	X: 6,772,697 (GRCm39)	M462K	probably benign	Het
Dhx29	T	A	13: 113,091,759 (GRCm39)	H834Q	probably benign	Het
Esyt1	A	G	10: 128,353,504 (GRCm39)	Y578H	possibly damaging	Het
Fnip2	C	A	3: 79,419,796 (GRCm39)		probably benign	Het
Fut1	T	G	7: 45,268,855 (GRCm39)	C270G	probably damaging	Het
Ganab	T	A	19: 8,884,707 (GRCm39)	V170D	probably damaging	Het
Gys1	T	A	7: 45,094,256 (GRCm39)	M364K	possibly damaging	Het
Ighv1-85	A	C	12: 115,963,654 (GRCm39)	C115W	probably damaging	Het
Igkv4-74	T	G	6: 69,162,044 (GRCm39)	T42P	probably damaging	Het
Jmjd4	A	G	11: 59,341,321 (GRCm39)	Y84C	probably damaging	Het
Kif11	A	C	19: 37,399,857 (GRCm39)	E781D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Klf1	C	T	8: 85,628,628 (GRCm39)	P9S	possibly damaging	Het
Lrrn3	T	C	12: 41,502,191 (GRCm39)		probably benign	Het
Ltbp4	C	A	7: 27,028,230 (GRCm39)	R309L	probably damaging	Het
Marchf10	T	C	11: 105,293,014 (GRCm39)	E131G	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mgme1	T	A	2: 144,121,056 (GRCm39)		probably benign	Het
Nkiras2	G	A	11: 100,515,808 (GRCm39)	G45D	probably damaging	Het
Orc2	A	T	1: 58,532,875 (GRCm39)	D16E	possibly damaging	Het
Pcyox1l	T	C	18: 61,830,613 (GRCm39)	T420A	probably benign	Het
Pira13	C	A	7: 3,826,088 (GRCm39)	G302C	probably damaging	Het
Pm20d1	A	G	1: 131,741,738 (GRCm39)		probably benign	Het
Ppp1r3c	T	C	19: 36,711,503 (GRCm39)	D89G	probably damaging	Het
Ppp2ca	G	A	11: 52,012,776 (GRCm39)	R302H	probably benign	Het
Riok3	T	C	18: 12,281,904 (GRCm39)	V291A	probably damaging	Het
Rragd	A	G	4: 33,007,219 (GRCm39)		probably benign	Het
Scai	C	A	2: 38,998,406 (GRCm39)	L174F	probably damaging	Het
Slc25a44	T	C	3: 88,323,369 (GRCm39)	I227V	probably benign	Het
Slc35f1	T	C	10: 52,938,548 (GRCm39)	L160P	probably damaging	Het
Slc38a1	A	G	15: 96,483,504 (GRCm39)	Y275H	possibly damaging	Het
Slco6b1	A	G	1: 96,916,375 (GRCm39)		noncoding transcript	Het
Spag8	G	T	4: 43,652,890 (GRCm39)	C190*	probably null	Het
Tbr1	T	C	2: 61,635,625 (GRCm39)	F192L	probably benign	Het
Tti1	C	T	2: 157,850,886 (GRCm39)	E118K	probably damaging	Het
Tti1	T	A	2: 157,850,885 (GRCm39)	E118V	probably damaging	Het
Vcan	G	T	13: 89,852,821 (GRCm39)	P713Q	probably damaging	Het
Vcf2	A	T	X: 149,181,395 (GRCm39)	V132E	possibly damaging	Het
Wt1	G	T	2: 104,974,486 (GRCm39)		probably null	Het
Xylt1	T	A	7: 117,249,912 (GRCm39)	I694N	probably damaging	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	Het

Other mutations in Cdsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20