Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02741:Dsg4'

305893

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

CDHF13, lah

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

IGL02741

Quality Score

Status

Chromosome

Chromosomal Location

20569232-20604878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20604553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1007 (M1007V)

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

AlphaFold

Q7TMD7

Predicted Effect

probably benign
Transcript: ENSMUST00000019426
AA Change: M1007V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: M1007V

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	T	C	2: 18,032,007 (GRCm39)	Y37C	unknown	Het
Arhgap20	T	A	9: 51,759,945 (GRCm39)	C599S	probably benign	Het
Bcl6b	C	A	11: 70,119,942 (GRCm39)	R15L	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dchs1	C	T	7: 105,406,530 (GRCm39)	D2262N	probably damaging	Het
Fgd6	A	G	10: 93,959,152 (GRCm39)	K1032R	possibly damaging	Het
Fras1	T	A	5: 96,839,230 (GRCm39)	M1583K	probably benign	Het
Gjc3	A	T	5: 137,955,726 (GRCm39)	C186*	probably null	Het
Gm14496	A	G	2: 181,633,136 (GRCm39)	R40G	probably benign	Het
Ibtk	T	C	9: 85,608,665 (GRCm39)	R416G	probably damaging	Het
Kcnc4	A	G	3: 107,355,294 (GRCm39)	F385L	probably damaging	Het
Mapk8ip2	T	C	15: 89,341,700 (GRCm39)	S304P	probably damaging	Het
Mbd6	A	G	10: 127,123,263 (GRCm39)		probably null	Het
Mroh2b	T	C	15: 4,935,114 (GRCm39)	F183S	probably benign	Het
Nrg1	T	A	8: 32,312,316 (GRCm39)	T334S	probably damaging	Het
Pigw	C	T	11: 84,769,192 (GRCm39)	V46I	probably benign	Het
Pkdrej	T	C	15: 85,701,631 (GRCm39)	E1435G	probably benign	Het
Pkhd1	T	C	1: 20,290,253 (GRCm39)		probably benign	Het
Prkdc	A	T	16: 15,570,590 (GRCm39)		probably benign	Het
Ptprd	A	T	4: 76,051,521 (GRCm39)	I247N	probably damaging	Het
Rfx1	A	G	8: 84,822,471 (GRCm39)	Q923R	possibly damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rps6ka2	T	A	17: 7,563,415 (GRCm39)	F608I	probably benign	Het
Slc13a1	A	T	6: 24,150,707 (GRCm39)		probably null	Het
Slc6a20b	C	T	9: 123,436,667 (GRCm39)	V249M	probably damaging	Het
Slc9c1	A	G	16: 45,401,961 (GRCm39)	I783V	possibly damaging	Het
Swap70	G	T	7: 109,873,856 (GRCm39)	M401I	probably benign	Het
Tmco4	A	T	4: 138,757,188 (GRCm39)	I407F	probably damaging	Het
Trpm4	T	A	7: 44,967,912 (GRCm39)	S340C	possibly damaging	Het
Tsc2	T	C	17: 24,848,943 (GRCm39)	E79G	probably damaging	Het
Ubr1	A	C	2: 120,771,572 (GRCm39)	S439A	probably benign	Het
Vmn1r73	T	C	7: 11,490,710 (GRCm39)	V176A	probably benign	Het
Vmn2r17	G	A	5: 109,568,077 (GRCm39)	D67N	probably benign	Het
Wasf1	C	T	10: 40,806,705 (GRCm39)	T116M	probably damaging	Het
Zkscan3	A	T	13: 21,578,164 (GRCm39)	M241K	probably benign	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
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
R4006:Dsg4	UTSW	18	20,604,022 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2015-04-16