Mutagenetix > Incidental Mutation

Incidental Mutation 'R6117:Cdsn'

485186

Institutional Source

Beutler Lab

Gene Symbol

Cdsn

Ensembl Gene

ENSMUSG00000039518

Gene Name

corneodesmosin

Synonyms

MMRRC Submission

044266-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6117 (G1)

Quality Score

181.009

Status

Not validated

Chromosome

Chromosomal Location

35863025-35868077 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35865931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 153 (S153R)

Ref Sequence

ENSEMBL: ENSMUSP00000048596 (fasta)

Gene Model

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

AlphaFold

Q7TPC1

Predicted Effect

unknown
Transcript: ENSMUST00000044804
AA Change: S153R

SMART Domains

Protein: ENSMUSP00000048596
Gene: ENSMUSG00000039518
AA Change: S153R

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,348,534 (GRCm39)	Y625C	probably damaging	Het
Ankmy1	A	G	1: 92,788,996 (GRCm39)		probably benign	Het
Apmap	T	C	2: 150,442,252 (GRCm39)	T41A	probably benign	Het
Cacna1a	A	G	8: 85,341,350 (GRCm39)	Y1804C	probably damaging	Het
Cacna1e	A	T	1: 154,437,537 (GRCm39)	I333N	possibly damaging	Het
Celsr1	A	T	15: 85,816,612 (GRCm39)	M1777K	probably benign	Het
Cmtr1	A	G	17: 29,901,139 (GRCm39)	M249V	probably benign	Het
Cmya5	A	G	13: 93,231,674 (GRCm39)	L1138P	probably damaging	Het
Crim1	A	C	17: 78,610,517 (GRCm39)	D324A	probably damaging	Het
Dmap1	T	A	4: 117,532,732 (GRCm39)		probably null	Het
Dnah17	T	C	11: 118,010,397 (GRCm39)	Y307C	probably benign	Het
Dnah5	T	A	15: 28,270,566 (GRCm39)	L956H	probably damaging	Het
Enpp3	C	T	10: 24,663,750 (GRCm39)	S537N	probably damaging	Het
Eya3	T	A	4: 132,439,173 (GRCm39)	L323Q	probably damaging	Het
Fads3	A	T	19: 10,031,631 (GRCm39)	H226L	probably damaging	Het
Flrt3	T	A	2: 140,502,365 (GRCm39)	D421V	possibly damaging	Het
Frmd4a	T	C	2: 4,607,060 (GRCm39)	V370A	possibly damaging	Het
Gapvd1	T	C	2: 34,580,471 (GRCm39)		probably null	Het
Gm2178	T	C	14: 26,235,995 (GRCm39)		probably benign	Het
Gm5592	A	G	7: 40,937,888 (GRCm39)	N390S	probably benign	Het
Hoxa10	T	A	6: 52,211,800 (GRCm39)	R39*	probably null	Het
Kcnj1	A	G	9: 32,308,478 (GRCm39)	T281A	probably damaging	Het
Myo10	T	C	15: 25,805,745 (GRCm39)	Y1709H	probably benign	Het
Nacad	T	C	11: 6,549,810 (GRCm39)	D1127G	probably benign	Het
Naip1	T	A	13: 100,581,245 (GRCm39)	M1L	probably damaging	Het
Or10ak9	A	T	4: 118,726,341 (GRCm39)	Y121F	probably benign	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Pcdhb12	G	A	18: 37,568,695 (GRCm39)		probably benign	Het
Pde1b	T	C	15: 103,429,909 (GRCm39)	V134A	probably damaging	Het
Plxnb2	A	T	15: 89,042,203 (GRCm39)	D1600E	probably benign	Het
Prss54	T	A	8: 96,292,086 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,465,741 (GRCm39)	I4757N	probably damaging	Het
Slc1a6	T	C	10: 78,624,822 (GRCm39)	Y76H	possibly damaging	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Sox15	G	T	11: 69,546,716 (GRCm39)	G173V	possibly damaging	Het
Stard3	T	C	11: 98,263,088 (GRCm39)	S48P	probably damaging	Het
Stk32c	G	A	7: 138,702,839 (GRCm39)	Q67*	probably null	Het
Svil	T	A	18: 5,116,016 (GRCm39)	W2101R	probably damaging	Het
Taar7e	T	A	10: 23,914,427 (GRCm39)	Y306N	probably damaging	Het
Tarbp1	T	A	8: 127,154,280 (GRCm39)	M1485L	probably benign	Het
Togaram1	A	G	12: 65,014,261 (GRCm39)	D504G	probably damaging	Het
Trrap	T	C	5: 144,739,771 (GRCm39)	L1091S	possibly damaging	Het
Unc80	A	G	1: 66,714,226 (GRCm39)	E2856G	possibly damaging	Het
Usp47	C	T	7: 111,687,139 (GRCm39)	T699M	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGGAAGTTCTTCAGGATCCTTG -3'
(R):5'- ATGCCTGATGTCTTGTCACC -3'

Sequencing Primer
(F):5'- CCTTGATATATAAACCAGGAACAGG -3'
(R):5'- TTGGTAGAGCAGAGCCACTTC -3'

Posted On

2017-08-16