Mutagenetix > Incidental Mutation

Incidental Mutation 'R8174:Cdsn'

634256

Institutional Source

Beutler Lab

Gene Symbol

Cdsn

Ensembl Gene

ENSMUSG00000039518

Gene Name

corneodesmosin

Synonyms

MMRRC Submission

067599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35863025-35868077 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 35866529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 353 (K353*)

Ref Sequence

ENSEMBL: ENSMUSP00000048596 (fasta)

Gene Model

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

AlphaFold

Q7TPC1

Predicted Effect

probably null
Transcript: ENSMUST00000044804
AA Change: K353*

SMART Domains

Protein: ENSMUSP00000048596
Gene: ENSMUSG00000039518
AA Change: K353*

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (40/40)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,378,617 (GRCm39)	N2090S	possibly damaging	Het
Asxl3	T	C	18: 22,650,800 (GRCm39)	S930P	probably benign	Het
Cachd1	T	A	4: 100,823,466 (GRCm39)	I506N	probably damaging	Het
Calm1	G	T	12: 100,171,967 (GRCm39)	V140L	probably benign	Het
Cldn11	T	C	3: 31,208,210 (GRCm39)	V125A	probably benign	Het
Ddx60	G	A	8: 62,470,284 (GRCm39)		probably null	Het
Dlg2	A	G	7: 91,589,248 (GRCm39)	I216V	probably benign	Het
Dnah5	A	G	15: 28,311,279 (GRCm39)		probably null	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Erap1	A	T	13: 74,794,683 (GRCm39)	Y114F	probably benign	Het
Gm14443	G	A	2: 175,011,468 (GRCm39)	P326L	probably damaging	Het
Gm2042	T	A	12: 87,926,928 (GRCm39)	L415Q	probably damaging	Het
Gm8797	T	C	3: 5,816,094 (GRCm39)	I44T	probably benign	Het
Matn2	C	A	15: 34,422,555 (GRCm39)	F547L	probably benign	Het
Mpc2	T	A	1: 165,308,458 (GRCm39)		probably null	Het
Or5b12b	A	G	19: 12,861,268 (GRCm39)	T8A	probably benign	Het
Or7d10	A	C	9: 19,832,020 (GRCm39)	T172P	probably damaging	Het
Pcnx4	T	A	12: 72,603,687 (GRCm39)	L536Q	probably damaging	Het
Phlpp2	G	A	8: 110,595,321 (GRCm39)	R24H	unknown	Het
Pkmyt1	A	T	17: 23,952,813 (GRCm39)	D123V	probably damaging	Het
Polg	A	T	7: 79,106,466 (GRCm39)	M668K	probably benign	Het
Ppp1r12a	G	T	10: 108,107,598 (GRCm39)	A974S	probably benign	Het
Ppp2r3d	T	C	9: 101,090,501 (GRCm39)		probably benign	Het
Rabl3	T	C	16: 37,377,225 (GRCm39)	Y61H	probably damaging	Het
Rap2a	T	A	14: 120,716,269 (GRCm39)	I44N	probably damaging	Het
Rev3l	T	C	10: 39,735,111 (GRCm39)	V2779A	probably damaging	Het
Rnf43	G	T	11: 87,622,057 (GRCm39)	R259L	probably benign	Het
Rspry1	T	A	8: 95,376,450 (GRCm39)	L448Q	probably damaging	Het
Slc43a2	T	G	11: 75,434,193 (GRCm39)		probably null	Het
Slc6a5	A	G	7: 49,598,057 (GRCm39)	I640M	probably benign	Het
Sp140l1	T	G	1: 85,077,261 (GRCm39)	S102R	probably damaging	Het
Srrm2	C	T	17: 24,034,297 (GRCm39)	P314S	unknown	Het
Strn4	C	T	7: 16,562,733 (GRCm39)	R291C	probably damaging	Het
Syt4	T	A	18: 31,577,230 (GRCm39)	R41S	probably benign	Het
Tfb1m	T	C	17: 3,569,855 (GRCm39)	D337G	probably benign	Het
Togaram1	G	T	12: 65,029,465 (GRCm39)	D963Y	possibly damaging	Het
Tpsg1	T	C	17: 25,591,564 (GRCm39)	C55R	probably damaging	Het
Tram1l1	A	G	3: 124,115,911 (GRCm39)	K357R	probably benign	Het
Veph1	A	G	3: 66,171,316 (GRCm39)	I42T	probably damaging	Het
Vps13b	C	G	15: 35,709,456 (GRCm39)	S1801*	probably null	Het
Zcwpw1	G	A	5: 137,817,839 (GRCm39)		probably null	Het
Zfp266	G	A	9: 20,418,110 (GRCm39)		probably benign	Het
Zmym5	T	A	14: 57,031,918 (GRCm39)	R397*	probably null	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
R6117:Cdsn	UTSW	17	35,865,931 (GRCm39)	missense	unknown
R7828:Cdsn	UTSW	17	35,865,878 (GRCm39)	missense	unknown
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'- TTCAAGGCATGCCCTGTAGC -3'
(R):5'- GGTGATCTGAATTCTCGTACCC -3'

Sequencing Primer
(F):5'- TGCCCTGTAGCAATGGAGG -3'
(R):5'- AAGGGCCCTTAGAGCTGAC -3'

Posted On

2020-07-13