Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02445:Dsg4'

293580

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

lah, CDHF13

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.631) question?

Stock #

IGL02445

Quality Score

Status

Chromosome

Chromosomal Location

20436175-20471821 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 20446250 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

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
4930432K21Rik	T	A	8: 84,159,508	M31K	probably benign	Het
Acacb	C	T	5: 114,245,137	T2127M	probably damaging	Het
Acp2	A	G	2: 91,206,261	D175G	possibly damaging	Het
Adamts12	T	C	15: 11,286,712	L801P	probably damaging	Het
Adcy10	T	G	1: 165,570,744	V1470G	possibly damaging	Het
Ankar	T	G	1: 72,666,365	K829Q	probably benign	Het
Arhgef10l	T	C	4: 140,547,007	Y531C	probably benign	Het
Atm	T	C	9: 53,454,330	I2590V	probably benign	Het
Cblb	T	C	16: 52,166,305	L485P	probably damaging	Het
Col4a1	T	C	8: 11,233,911		probably benign	Het
Coprs	T	C	8: 13,885,797	K74R	possibly damaging	Het
Cul3	A	T	1: 80,304,169	L31M	possibly damaging	Het
Cyp3a59	C	A	5: 146,096,653	Q200K	probably benign	Het
Ddx19b	C	A	8: 111,008,824	V402L	probably damaging	Het
Disc1	T	A	8: 125,148,403		probably benign	Het
Dspp	A	C	5: 104,177,097	Y442S	probably damaging	Het
Dtl	C	T	1: 191,558,060		probably null	Het
Ezh1	A	C	11: 101,210,687	V175G	possibly damaging	Het
Hepacam2	C	T	6: 3,483,481	G100D	probably damaging	Het
Herc1	T	A	9: 66,433,482	H1704Q	possibly damaging	Het
Kif26a	T	C	12: 112,173,743	S469P	probably damaging	Het
Lefty1	T	C	1: 180,937,677	M270T	probably benign	Het
Nap1l3	A	T	X: 122,396,055	V322D	probably damaging	Het
Ndufv2	A	G	17: 66,080,894		probably benign	Het
Olfr1179	G	A	2: 88,402,112	T274I	possibly damaging	Het
Olfr126	A	T	17: 37,851,117	H175L	probably damaging	Het
Olfr922	T	C	9: 38,815,605	I34T	possibly damaging	Het
Otol1	A	T	3: 70,028,034	D453V	probably damaging	Het
Papolb	G	A	5: 142,528,725	H388Y	probably benign	Het
Ppp1r10	A	G	17: 35,926,202	E128G	probably damaging	Het
Prss12	T	A	3: 123,487,020	D451E	probably damaging	Het
Psmc1	T	C	12: 100,114,828		probably benign	Het
Pygo1	T	A	9: 72,925,940	I10N	probably benign	Het
Rab31	C	T	17: 65,722,003		probably null	Het
Ret	G	A	6: 118,181,899	T184I	probably damaging	Het
Rhd	A	T	4: 134,884,170	M214L	possibly damaging	Het
Ripor3	C	A	2: 167,992,762		probably benign	Het
Sec16a	A	G	2: 26,422,040	L2036P	probably benign	Het
Slc26a3	C	A	12: 31,457,052	D335E	possibly damaging	Het
Ssfa2	G	A	2: 79,657,498	E642K	probably damaging	Het
Taf6	A	G	5: 138,184,494		probably benign	Het
Tnk2	T	C	16: 32,675,590	V442A	probably benign	Het
Virma	A	G	4: 11,527,029	M1143V	probably damaging	Het
Vmn2r77	A	T	7: 86,803,640	R522*	probably null	Het
Vmn2r-ps129	A	G	17: 23,008,419		noncoding transcript	Het
Zfp473	A	G	7: 44,733,683	C408R	probably damaging	Het

Other mutations in Dsg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Dsg4	APN	18	20461326	missense	probably benign	0.22
IGL01723:Dsg4	APN	18	20466510	missense	probably damaging	1.00
IGL02249:Dsg4	APN	18	20461304	missense	possibly damaging	0.69
IGL02553:Dsg4	APN	18	20462520	missense	probably benign
IGL02578:Dsg4	APN	18	20471193	missense	possibly damaging	0.94
IGL02634:Dsg4	APN	18	20458580	missense	probably benign	0.01
IGL02677:Dsg4	APN	18	20464876	missense	possibly damaging	0.62
IGL02741:Dsg4	APN	18	20471496	missense	probably benign
IGL02747:Dsg4	APN	18	20446938	missense	probably damaging	0.97
IGL03342:Dsg4	APN	18	20451823	missense	probably damaging	1.00
burrito	UTSW	18	20451862	missense	possibly damaging	0.81
R0043:Dsg4	UTSW	18	20452972	missense	probably damaging	1.00
R0375:Dsg4	UTSW	18	20470879	missense	probably damaging	1.00
R0537:Dsg4	UTSW	18	20458571	missense	probably damaging	1.00
R0619:Dsg4	UTSW	18	20461359	missense	probably benign	0.00
R0622:Dsg4	UTSW	18	20449788	missense	possibly damaging	0.51
R0765:Dsg4	UTSW	18	20454646	splice site	probably benign
R0786:Dsg4	UTSW	18	20449372	critical splice donor site	probably null
R1114:Dsg4	UTSW	18	20466483	missense	possibly damaging	0.62
R1249:Dsg4	UTSW	18	20446872	nonsense	probably null
R1372:Dsg4	UTSW	18	20449676	splice site	probably null
R1382:Dsg4	UTSW	18	20465124	missense	probably benign	0.00
R1392:Dsg4	UTSW	18	20446247	splice site	probably benign
R1442:Dsg4	UTSW	18	20462660	missense	possibly damaging	0.76
R1503:Dsg4	UTSW	18	20449679	missense	probably damaging	1.00
R1704:Dsg4	UTSW	18	20471589	missense	probably damaging	1.00
R1716:Dsg4	UTSW	18	20462461	nonsense	probably null
R1765:Dsg4	UTSW	18	20456831	missense	probably benign	0.01
R1817:Dsg4	UTSW	18	20471245	missense	probably damaging	1.00
R1982:Dsg4	UTSW	18	20471212	missense	probably damaging	1.00
R2025:Dsg4	UTSW	18	20466636	nonsense	probably null
R2097:Dsg4	UTSW	18	20471044	missense	probably damaging	1.00
R2198:Dsg4	UTSW	18	20461442	missense	probably benign
R3551:Dsg4	UTSW	18	20451756	missense	probably damaging	1.00
R3742:Dsg4	UTSW	18	20471001	missense	probably damaging	1.00
R3853:Dsg4	UTSW	18	20449234	missense	probably benign
R3955:Dsg4	UTSW	18	20449375	splice site	probably null
R4006:Dsg4	UTSW	18	20470965	missense	probably damaging	0.97
R4012:Dsg4	UTSW	18	20451862	missense	possibly damaging	0.81
R4171:Dsg4	UTSW	18	20458579	nonsense	probably null
R4254:Dsg4	UTSW	18	20471538	missense	probably benign	0.07
R4504:Dsg4	UTSW	18	20461436	missense	probably benign	0.00
R4559:Dsg4	UTSW	18	20470921	missense	probably damaging	1.00
R4607:Dsg4	UTSW	18	20471245	missense	probably damaging	1.00
R4612:Dsg4	UTSW	18	20462413	missense	probably benign	0.10
R4683:Dsg4	UTSW	18	20461409	missense	probably benign
R4700:Dsg4	UTSW	18	20456908	missense	possibly damaging	0.91
R4749:Dsg4	UTSW	18	20446831	missense	possibly damaging	0.88
R4775:Dsg4	UTSW	18	20471127	missense	possibly damaging	0.48
R4809:Dsg4	UTSW	18	20466621	missense	possibly damaging	0.82
R5276:Dsg4	UTSW	18	20446839	missense	probably benign	0.21
R5426:Dsg4	UTSW	18	20458484	missense	probably damaging	1.00
R5767:Dsg4	UTSW	18	20462492	nonsense	probably null
R5982:Dsg4	UTSW	18	20465169	missense	possibly damaging	0.76
R6280:Dsg4	UTSW	18	20466667	missense	probably damaging	1.00
R6305:Dsg4	UTSW	18	20449790	missense	probably damaging	1.00
R6489:Dsg4	UTSW	18	20471363	missense	possibly damaging	0.93
R7013:Dsg4	UTSW	18	20458521	missense	possibly damaging	0.58
R7040:Dsg4	UTSW	18	20451852	missense	probably benign	0.01
R7196:Dsg4	UTSW	18	20466480	missense	probably damaging	1.00
R7432:Dsg4	UTSW	18	20446266	nonsense	probably null
R7438:Dsg4	UTSW	18	20466628	missense	probably damaging	0.96
R7490:Dsg4	UTSW	18	20451936	splice site	probably null
R7612:Dsg4	UTSW	18	20470990	missense	probably damaging	1.00
R7639:Dsg4	UTSW	18	20449712	missense	probably damaging	1.00
R7905:Dsg4	UTSW	18	20454669	missense	probably damaging	1.00
R8251:Dsg4	UTSW	18	20471164	missense	probably damaging	1.00
R8326:Dsg4	UTSW	18	20449731	missense	probably benign	0.31
R8554:Dsg4	UTSW	18	20453043	missense	probably damaging	1.00
R8911:Dsg4	UTSW	18	20451872	nonsense	probably null

Posted On

2015-04-16