Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02445:Dsg4'

293580

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 #

IGL02445

Quality Score

Status

Chromosome

Chromosomal Location

20569232-20604878 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 20579307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

AlphaFold

Q7TMD7

Predicted Effect

probably benign
Transcript: ENSMUST00000019426

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,383,198 (GRCm39)	T2127M	probably damaging	Het
Acp2	A	G	2: 91,036,606 (GRCm39)	D175G	possibly damaging	Het
Adamts12	T	C	15: 11,286,798 (GRCm39)	L801P	probably damaging	Het
Adcy10	T	G	1: 165,398,313 (GRCm39)	V1470G	possibly damaging	Het
Ankar	T	G	1: 72,705,524 (GRCm39)	K829Q	probably benign	Het
Arhgef10l	T	C	4: 140,274,318 (GRCm39)	Y531C	probably benign	Het
Atm	T	C	9: 53,365,630 (GRCm39)	I2590V	probably benign	Het
Brme1	T	A	8: 84,886,137 (GRCm39)	M31K	probably benign	Het
Cblb	T	C	16: 51,986,668 (GRCm39)	L485P	probably damaging	Het
Col4a1	T	C	8: 11,283,911 (GRCm39)		probably benign	Het
Coprs	T	C	8: 13,935,797 (GRCm39)	K74R	possibly damaging	Het
Cul3	A	T	1: 80,281,886 (GRCm39)	L31M	possibly damaging	Het
Cyp3a59	C	A	5: 146,033,463 (GRCm39)	Q200K	probably benign	Het
Ddx19b	C	A	8: 111,735,456 (GRCm39)	V402L	probably damaging	Het
Disc1	T	A	8: 125,875,142 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,963 (GRCm39)	Y442S	probably damaging	Het
Dtl	C	T	1: 191,290,172 (GRCm39)		probably null	Het
Ezh1	A	C	11: 101,101,513 (GRCm39)	V175G	possibly damaging	Het
Hepacam2	C	T	6: 3,483,481 (GRCm39)	G100D	probably damaging	Het
Herc1	T	A	9: 66,340,764 (GRCm39)	H1704Q	possibly damaging	Het
Itprid2	G	A	2: 79,487,842 (GRCm39)	E642K	probably damaging	Het
Kif26a	T	C	12: 112,140,177 (GRCm39)	S469P	probably damaging	Het
Lefty1	T	C	1: 180,765,242 (GRCm39)	M270T	probably benign	Het
Nap1l3	A	T	X: 121,305,752 (GRCm39)	V322D	probably damaging	Het
Ndufv2	A	G	17: 66,387,889 (GRCm39)		probably benign	Het
Or14j5	A	T	17: 38,162,008 (GRCm39)	H175L	probably damaging	Het
Or4p18	G	A	2: 88,232,456 (GRCm39)	T274I	possibly damaging	Het
Or8b55	T	C	9: 38,726,901 (GRCm39)	I34T	possibly damaging	Het
Otol1	A	T	3: 69,935,367 (GRCm39)	D453V	probably damaging	Het
Papolb	G	A	5: 142,514,480 (GRCm39)	H388Y	probably benign	Het
Ppp1r10	A	G	17: 36,237,094 (GRCm39)	E128G	probably damaging	Het
Prss12	T	A	3: 123,280,669 (GRCm39)	D451E	probably damaging	Het
Psmc1	T	C	12: 100,081,087 (GRCm39)		probably benign	Het
Pygo1	T	A	9: 72,833,222 (GRCm39)	I10N	probably benign	Het
Rab31	C	T	17: 66,028,998 (GRCm39)		probably null	Het
Ret	G	A	6: 118,158,860 (GRCm39)	T184I	probably damaging	Het
Rhd	A	T	4: 134,611,481 (GRCm39)	M214L	possibly damaging	Het
Ripor3	C	A	2: 167,834,682 (GRCm39)		probably benign	Het
Sec16a	A	G	2: 26,312,052 (GRCm39)	L2036P	probably benign	Het
Slc26a3	C	A	12: 31,507,051 (GRCm39)	D335E	possibly damaging	Het
Taf6	A	G	5: 138,182,756 (GRCm39)		probably benign	Het
Tnk2	T	C	16: 32,494,408 (GRCm39)	V442A	probably benign	Het
Virma	A	G	4: 11,527,029 (GRCm39)	M1143V	probably damaging	Het
Vmn2r77	A	T	7: 86,452,848 (GRCm39)	R522*	probably null	Het
Vmn2r-ps129	A	G	17: 23,227,393 (GRCm39)		noncoding transcript	Het
Zfp473	A	G	7: 44,383,107 (GRCm39)	C408R	probably 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
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
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