Mutagenetix > Incidental Mutation

Incidental Mutation 'R4006:Dsg4'

311496

Institutional Source

Beutler Lab

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

CDHF13, lah

MMRRC Submission

040845-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

R4006 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20569232-20604878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20604022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 830 (E830K)

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019426]

AlphaFold

Q7TMD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019426
AA Change: E830K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: E830K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
CA	70	155	1.54e-11	SMART
CA	179	267	4.27e-19	SMART
CA	290	384	5.48e-8	SMART
CA	411	495	9.4e-7	SMART
transmembrane domain	634	656	N/A	INTRINSIC
low complexity region	724	736	N/A	INTRINSIC
Pfam:Cadherin_C	749	849	3.1e-8	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. This gene is expressed in the suprabasal epidermis and hair follicle. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Certain mutations in this gene are responsible for the lanceolate hair phenotype in mice. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice carrying mutations at this locus exhibit abnormalities in hair growth, vibrissae growth, and a thickened epidermis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,038,600 (GRCm39)		probably null	Het
Ano4	C	A	10: 88,924,125 (GRCm39)	V329L	probably benign	Het
Camkv	C	T	9: 107,823,840 (GRCm39)	R196W	probably damaging	Het
Chd9	T	C	8: 91,660,188 (GRCm39)	S383P	probably benign	Het
Cimip1	T	C	2: 173,367,880 (GRCm39)		probably null	Het
Cul4a	A	G	8: 13,172,859 (GRCm39)	N164S	probably benign	Het
Fbln2	C	A	6: 91,246,943 (GRCm39)		probably null	Het
Grm8	T	C	6: 27,981,229 (GRCm39)	Y227C	probably damaging	Het
Gsn	G	A	2: 35,197,633 (GRCm39)	W717*	probably null	Het
Htr2a	A	T	14: 74,879,581 (GRCm39)	H70L	probably benign	Het
Igfn1	C	T	1: 135,910,100 (GRCm39)		probably null	Het
Iqsec3	A	G	6: 121,353,187 (GRCm39)	S1144P	probably damaging	Het
Lpin2	C	T	17: 71,553,496 (GRCm39)	T878I	probably damaging	Het
Lrrn2	A	T	1: 132,865,478 (GRCm39)	D181V	probably damaging	Het
Mc1r	T	C	8: 124,134,376 (GRCm39)	F43S	probably damaging	Het
Mst1	A	G	9: 107,960,147 (GRCm39)	E377G	possibly damaging	Het
Nfatc3	T	A	8: 106,835,471 (GRCm39)	I931N	probably benign	Het
Nup188	G	A	2: 30,199,890 (GRCm39)	D305N	probably damaging	Het
Or5e1	C	T	7: 108,354,468 (GRCm39)	T135I	probably damaging	Het
Or8k35	T	C	2: 86,424,908 (GRCm39)	D88G	probably benign	Het
Pate3	T	A	9: 35,557,398 (GRCm39)	H86L	probably damaging	Het
Pla2r1	A	T	2: 60,353,217 (GRCm39)	F248Y	probably damaging	Het
Ppp1r37	A	G	7: 19,268,994 (GRCm39)	S169P	probably damaging	Het
Pramex1	A	T	X: 134,514,374 (GRCm39)	L305Q	probably damaging	Het
Prkcg	G	A	7: 3,375,983 (GRCm39)	V492I	probably damaging	Het
Psmb11	T	A	14: 54,863,103 (GRCm39)	V107E	probably damaging	Het
Reg1	A	G	6: 78,404,013 (GRCm39)	D60G	probably null	Het
Shoc1	A	T	4: 59,076,500 (GRCm39)	V481D	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Trim23	A	G	13: 104,324,131 (GRCm39)	T177A	probably benign	Het
Xkr4	A	T	1: 3,491,998 (GRCm39)	F308L	probably benign	Het
Xylt1	A	G	7: 117,074,748 (GRCm39)	I122V	probably benign	Het
Zan	T	C	5: 137,462,201 (GRCm39)	T993A	unknown	Het
Zbtb20	T	C	16: 43,429,762 (GRCm39)	L18P	probably damaging	Het
Zfp292	T	C	4: 34,807,744 (GRCm39)	I1767V	probably benign	Het
Zfp292	G	T	4: 34,809,611 (GRCm39)	S1144R	possibly damaging	Het
Zfp317	T	G	9: 19,559,333 (GRCm39)	W516G	possibly damaging	Het
Zfp974	G	A	7: 27,611,677 (GRCm39)	T16I	possibly damaging	Het

Other mutations in Dsg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Dsg4	APN	18	20,594,383 (GRCm39)	missense	probably benign	0.22
IGL01723:Dsg4	APN	18	20,599,567 (GRCm39)	missense	probably damaging	1.00
IGL02249:Dsg4	APN	18	20,594,361 (GRCm39)	missense	possibly damaging	0.69
IGL02445:Dsg4	APN	18	20,579,307 (GRCm39)	splice site	probably benign
IGL02553:Dsg4	APN	18	20,595,577 (GRCm39)	missense	probably benign
IGL02578:Dsg4	APN	18	20,604,250 (GRCm39)	missense	possibly damaging	0.94
IGL02634:Dsg4	APN	18	20,591,637 (GRCm39)	missense	probably benign	0.01
IGL02677:Dsg4	APN	18	20,597,933 (GRCm39)	missense	possibly damaging	0.62
IGL02741:Dsg4	APN	18	20,604,553 (GRCm39)	missense	probably benign
IGL02747:Dsg4	APN	18	20,579,995 (GRCm39)	missense	probably damaging	0.97
IGL03342:Dsg4	APN	18	20,584,880 (GRCm39)	missense	probably damaging	1.00
burrito	UTSW	18	20,584,919 (GRCm39)	missense	possibly damaging	0.81
woodshed	UTSW	18	20,584,929 (GRCm39)	nonsense	probably null
R0043:Dsg4	UTSW	18	20,586,029 (GRCm39)	missense	probably damaging	1.00
R0375:Dsg4	UTSW	18	20,603,936 (GRCm39)	missense	probably damaging	1.00
R0537:Dsg4	UTSW	18	20,591,628 (GRCm39)	missense	probably damaging	1.00
R0619:Dsg4	UTSW	18	20,594,416 (GRCm39)	missense	probably benign	0.00
R0622:Dsg4	UTSW	18	20,582,845 (GRCm39)	missense	possibly damaging	0.51
R0765:Dsg4	UTSW	18	20,587,703 (GRCm39)	splice site	probably benign
R0786:Dsg4	UTSW	18	20,582,429 (GRCm39)	critical splice donor site	probably null
R1114:Dsg4	UTSW	18	20,599,540 (GRCm39)	missense	possibly damaging	0.62
R1249:Dsg4	UTSW	18	20,579,929 (GRCm39)	nonsense	probably null
R1372:Dsg4	UTSW	18	20,582,733 (GRCm39)	splice site	probably null
R1382:Dsg4	UTSW	18	20,598,181 (GRCm39)	missense	probably benign	0.00
R1392:Dsg4	UTSW	18	20,579,304 (GRCm39)	splice site	probably benign
R1442:Dsg4	UTSW	18	20,595,717 (GRCm39)	missense	possibly damaging	0.76
R1503:Dsg4	UTSW	18	20,582,736 (GRCm39)	missense	probably damaging	1.00
R1704:Dsg4	UTSW	18	20,604,646 (GRCm39)	missense	probably damaging	1.00
R1716:Dsg4	UTSW	18	20,595,518 (GRCm39)	nonsense	probably null
R1765:Dsg4	UTSW	18	20,589,888 (GRCm39)	missense	probably benign	0.01
R1817:Dsg4	UTSW	18	20,604,302 (GRCm39)	missense	probably damaging	1.00
R1982:Dsg4	UTSW	18	20,604,269 (GRCm39)	missense	probably damaging	1.00
R2025:Dsg4	UTSW	18	20,599,693 (GRCm39)	nonsense	probably null
R2097:Dsg4	UTSW	18	20,604,101 (GRCm39)	missense	probably damaging	1.00
R2198:Dsg4	UTSW	18	20,594,499 (GRCm39)	missense	probably benign
R3551:Dsg4	UTSW	18	20,584,813 (GRCm39)	missense	probably damaging	1.00
R3742:Dsg4	UTSW	18	20,604,058 (GRCm39)	missense	probably damaging	1.00
R3853:Dsg4	UTSW	18	20,582,291 (GRCm39)	missense	probably benign
R3955:Dsg4	UTSW	18	20,582,432 (GRCm39)	splice site	probably null
R4012:Dsg4	UTSW	18	20,584,919 (GRCm39)	missense	possibly damaging	0.81
R4171:Dsg4	UTSW	18	20,591,636 (GRCm39)	nonsense	probably null
R4254:Dsg4	UTSW	18	20,604,595 (GRCm39)	missense	probably benign	0.07
R4504:Dsg4	UTSW	18	20,594,493 (GRCm39)	missense	probably benign	0.00
R4559:Dsg4	UTSW	18	20,603,978 (GRCm39)	missense	probably damaging	1.00
R4607:Dsg4	UTSW	18	20,604,302 (GRCm39)	missense	probably damaging	1.00
R4612:Dsg4	UTSW	18	20,595,470 (GRCm39)	missense	probably benign	0.10
R4683:Dsg4	UTSW	18	20,594,466 (GRCm39)	missense	probably benign
R4700:Dsg4	UTSW	18	20,589,965 (GRCm39)	missense	possibly damaging	0.91
R4749:Dsg4	UTSW	18	20,579,888 (GRCm39)	missense	possibly damaging	0.88
R4775:Dsg4	UTSW	18	20,604,184 (GRCm39)	missense	possibly damaging	0.48
R4809:Dsg4	UTSW	18	20,599,678 (GRCm39)	missense	possibly damaging	0.82
R5276:Dsg4	UTSW	18	20,579,896 (GRCm39)	missense	probably benign	0.21
R5426:Dsg4	UTSW	18	20,591,541 (GRCm39)	missense	probably damaging	1.00
R5767:Dsg4	UTSW	18	20,595,549 (GRCm39)	nonsense	probably null
R5982:Dsg4	UTSW	18	20,598,226 (GRCm39)	missense	possibly damaging	0.76
R6280:Dsg4	UTSW	18	20,599,724 (GRCm39)	missense	probably damaging	1.00
R6305:Dsg4	UTSW	18	20,582,847 (GRCm39)	missense	probably damaging	1.00
R6489:Dsg4	UTSW	18	20,604,420 (GRCm39)	missense	possibly damaging	0.93
R7013:Dsg4	UTSW	18	20,591,578 (GRCm39)	missense	possibly damaging	0.58
R7040:Dsg4	UTSW	18	20,584,909 (GRCm39)	missense	probably benign	0.01
R7196:Dsg4	UTSW	18	20,599,537 (GRCm39)	missense	probably damaging	1.00
R7432:Dsg4	UTSW	18	20,579,323 (GRCm39)	nonsense	probably null
R7438:Dsg4	UTSW	18	20,599,685 (GRCm39)	missense	probably damaging	0.96
R7490:Dsg4	UTSW	18	20,584,993 (GRCm39)	splice site	probably null
R7612:Dsg4	UTSW	18	20,604,047 (GRCm39)	missense	probably damaging	1.00
R7639:Dsg4	UTSW	18	20,582,769 (GRCm39)	missense	probably damaging	1.00
R7905:Dsg4	UTSW	18	20,587,726 (GRCm39)	missense	probably damaging	1.00
R8251:Dsg4	UTSW	18	20,604,221 (GRCm39)	missense	probably damaging	1.00
R8326:Dsg4	UTSW	18	20,582,788 (GRCm39)	missense	probably benign	0.31
R8554:Dsg4	UTSW	18	20,586,100 (GRCm39)	missense	probably damaging	1.00
R8911:Dsg4	UTSW	18	20,584,929 (GRCm39)	nonsense	probably null
R9059:Dsg4	UTSW	18	20,604,182 (GRCm39)	missense	possibly damaging	0.62
R9508:Dsg4	UTSW	18	20,604,070 (GRCm39)	missense	probably damaging	1.00
R9607:Dsg4	UTSW	18	20,586,047 (GRCm39)	missense	probably benign	0.00
R9765:Dsg4	UTSW	18	20,604,334 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCAGAGAAGTCACTGAAGCAC -3'
(R):5'- TCAGCCTCTGAGAGAGTCATTCC -3'

Sequencing Primer
(F):5'- GAAGCACAGTTATTACTTCTCTCTGG -3'
(R):5'- CCTCTGAGAGAGTCATTCCTGAAG -3'

Posted On

2015-04-29