Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01723:Dsg4'

105187

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

lah, CDHF13

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

IGL01723

Quality Score

Status

Chromosome

Chromosomal Location

20436175-20471821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20466510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 728 (V728M)

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

AlphaFold

Q7TMD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019426
AA Change: V728M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: V728M

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,314,168 (GRCm38)	A705V	probably benign	Het
Abcc10	A	T	17: 46,313,745 (GRCm38)	C728S	probably damaging	Het
Alms1	G	A	6: 85,628,094 (GRCm38)	R1773Q	probably benign	Het
BC067074	A	T	13: 113,367,557 (GRCm38)	Q198L	possibly damaging	Het
C030048H21Rik	A	G	2: 26,254,768 (GRCm38)	S1316P	possibly damaging	Het
Cd86	A	G	16: 36,607,124 (GRCm38)	L281S	probably benign	Het
Cdon	C	T	9: 35,503,338 (GRCm38)	P1170S	probably benign	Het
Col11a2	T	A	17: 34,061,280 (GRCm38)		probably benign	Het
Cyp2j12	A	G	4: 96,102,126 (GRCm38)	V401A	possibly damaging	Het
Cyp7a1	A	T	4: 6,272,442 (GRCm38)	I257N	probably damaging	Het
Ddhd2	A	T	8: 25,735,011 (GRCm38)	L593*	probably null	Het
Dnah8	T	C	17: 30,708,471 (GRCm38)	L1367S	probably damaging	Het
Dsp	G	A	13: 38,179,084 (GRCm38)	V447M	probably damaging	Het
Epx	C	T	11: 87,869,402 (GRCm38)	R462H	probably damaging	Het
Fgf18	T	C	11: 33,134,332 (GRCm38)	T41A	probably damaging	Het
Fh1	G	T	1: 175,601,542 (GRCm38)	A469D	probably damaging	Het
Hcn1	A	C	13: 117,976,055 (GRCm38)	S852R	probably damaging	Het
Hmcn1	A	T	1: 150,744,960 (GRCm38)	S1166R	probably benign	Het
Krt78	C	T	15: 101,951,798 (GRCm38)	G228S	possibly damaging	Het
Lrrn4	T	C	2: 132,870,061 (GRCm38)	E614G	possibly damaging	Het
Mettl9	T	C	7: 121,052,269 (GRCm38)	I180T	possibly damaging	Het
Mgat2	A	G	12: 69,185,641 (GRCm38)	T330A	probably damaging	Het
Myh13	T	C	11: 67,369,219 (GRCm38)		probably benign	Het
Nipbl	G	A	15: 8,335,071 (GRCm38)	T1283I	possibly damaging	Het
Nxpe4	A	G	9: 48,398,598 (GRCm38)	D387G	probably benign	Het
Olfr1110	A	G	2: 87,135,478 (GRCm38)	V281A	probably benign	Het
Olfr382	T	A	11: 73,516,626 (GRCm38)	D191V	probably damaging	Het
Pcdhb5	T	G	18: 37,321,022 (GRCm38)	S152A	probably benign	Het
Pcnt	C	T	10: 76,418,499 (GRCm38)	R832H	possibly damaging	Het
Ptprd	A	C	4: 76,243,673 (GRCm38)	S108R	probably damaging	Het
Ryr3	C	T	2: 112,650,111 (GRCm38)		probably null	Het
Slc22a4	C	T	11: 53,988,845 (GRCm38)	V463M	probably benign	Het
Soga1	T	C	2: 157,030,614 (GRCm38)	M938V	probably benign	Het
Ttn	A	T	2: 76,730,404 (GRCm38)	L29218I	probably damaging	Het
Ttn	T	A	2: 76,730,402 (GRCm38)	L29218F	probably damaging	Het
Vmn2r44	T	A	7: 8,377,916 (GRCm38)	H326L	probably damaging	Het
Vps13d	A	T	4: 145,173,145 (GRCm38)	M188K	possibly damaging	Het

Other mutations in Dsg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Dsg4	APN	18	20,461,326 (GRCm38)	missense	probably benign	0.22
IGL02249:Dsg4	APN	18	20,461,304 (GRCm38)	missense	possibly damaging	0.69
IGL02445:Dsg4	APN	18	20,446,250 (GRCm38)	splice site	probably benign
IGL02553:Dsg4	APN	18	20,462,520 (GRCm38)	missense	probably benign
IGL02578:Dsg4	APN	18	20,471,193 (GRCm38)	missense	possibly damaging	0.94
IGL02634:Dsg4	APN	18	20,458,580 (GRCm38)	missense	probably benign	0.01
IGL02677:Dsg4	APN	18	20,464,876 (GRCm38)	missense	possibly damaging	0.62
IGL02741:Dsg4	APN	18	20,471,496 (GRCm38)	missense	probably benign
IGL02747:Dsg4	APN	18	20,446,938 (GRCm38)	missense	probably damaging	0.97
IGL03342:Dsg4	APN	18	20,451,823 (GRCm38)	missense	probably damaging	1.00
burrito	UTSW	18	20,451,862 (GRCm38)	missense	possibly damaging	0.81
woodshed	UTSW	18	20,451,872 (GRCm38)	nonsense	probably null
R0043:Dsg4	UTSW	18	20,452,972 (GRCm38)	missense	probably damaging	1.00
R0375:Dsg4	UTSW	18	20,470,879 (GRCm38)	missense	probably damaging	1.00
R0537:Dsg4	UTSW	18	20,458,571 (GRCm38)	missense	probably damaging	1.00
R0619:Dsg4	UTSW	18	20,461,359 (GRCm38)	missense	probably benign	0.00
R0622:Dsg4	UTSW	18	20,449,788 (GRCm38)	missense	possibly damaging	0.51
R0765:Dsg4	UTSW	18	20,454,646 (GRCm38)	splice site	probably benign
R0786:Dsg4	UTSW	18	20,449,372 (GRCm38)	critical splice donor site	probably null
R1114:Dsg4	UTSW	18	20,466,483 (GRCm38)	missense	possibly damaging	0.62
R1249:Dsg4	UTSW	18	20,446,872 (GRCm38)	nonsense	probably null
R1372:Dsg4	UTSW	18	20,449,676 (GRCm38)	splice site	probably null
R1382:Dsg4	UTSW	18	20,465,124 (GRCm38)	missense	probably benign	0.00
R1392:Dsg4	UTSW	18	20,446,247 (GRCm38)	splice site	probably benign
R1442:Dsg4	UTSW	18	20,462,660 (GRCm38)	missense	possibly damaging	0.76
R1503:Dsg4	UTSW	18	20,449,679 (GRCm38)	missense	probably damaging	1.00
R1704:Dsg4	UTSW	18	20,471,589 (GRCm38)	missense	probably damaging	1.00
R1716:Dsg4	UTSW	18	20,462,461 (GRCm38)	nonsense	probably null
R1765:Dsg4	UTSW	18	20,456,831 (GRCm38)	missense	probably benign	0.01
R1817:Dsg4	UTSW	18	20,471,245 (GRCm38)	missense	probably damaging	1.00
R1982:Dsg4	UTSW	18	20,471,212 (GRCm38)	missense	probably damaging	1.00
R2025:Dsg4	UTSW	18	20,466,636 (GRCm38)	nonsense	probably null
R2097:Dsg4	UTSW	18	20,471,044 (GRCm38)	missense	probably damaging	1.00
R2198:Dsg4	UTSW	18	20,461,442 (GRCm38)	missense	probably benign
R3551:Dsg4	UTSW	18	20,451,756 (GRCm38)	missense	probably damaging	1.00
R3742:Dsg4	UTSW	18	20,471,001 (GRCm38)	missense	probably damaging	1.00
R3853:Dsg4	UTSW	18	20,449,234 (GRCm38)	missense	probably benign
R3955:Dsg4	UTSW	18	20,449,375 (GRCm38)	splice site	probably null
R4006:Dsg4	UTSW	18	20,470,965 (GRCm38)	missense	probably damaging	0.97
R4012:Dsg4	UTSW	18	20,451,862 (GRCm38)	missense	possibly damaging	0.81
R4171:Dsg4	UTSW	18	20,458,579 (GRCm38)	nonsense	probably null
R4254:Dsg4	UTSW	18	20,471,538 (GRCm38)	missense	probably benign	0.07
R4504:Dsg4	UTSW	18	20,461,436 (GRCm38)	missense	probably benign	0.00
R4559:Dsg4	UTSW	18	20,470,921 (GRCm38)	missense	probably damaging	1.00
R4607:Dsg4	UTSW	18	20,471,245 (GRCm38)	missense	probably damaging	1.00
R4612:Dsg4	UTSW	18	20,462,413 (GRCm38)	missense	probably benign	0.10
R4683:Dsg4	UTSW	18	20,461,409 (GRCm38)	missense	probably benign
R4700:Dsg4	UTSW	18	20,456,908 (GRCm38)	missense	possibly damaging	0.91
R4749:Dsg4	UTSW	18	20,446,831 (GRCm38)	missense	possibly damaging	0.88
R4775:Dsg4	UTSW	18	20,471,127 (GRCm38)	missense	possibly damaging	0.48
R4809:Dsg4	UTSW	18	20,466,621 (GRCm38)	missense	possibly damaging	0.82
R5276:Dsg4	UTSW	18	20,446,839 (GRCm38)	missense	probably benign	0.21
R5426:Dsg4	UTSW	18	20,458,484 (GRCm38)	missense	probably damaging	1.00
R5767:Dsg4	UTSW	18	20,462,492 (GRCm38)	nonsense	probably null
R5982:Dsg4	UTSW	18	20,465,169 (GRCm38)	missense	possibly damaging	0.76
R6280:Dsg4	UTSW	18	20,466,667 (GRCm38)	missense	probably damaging	1.00
R6305:Dsg4	UTSW	18	20,449,790 (GRCm38)	missense	probably damaging	1.00
R6489:Dsg4	UTSW	18	20,471,363 (GRCm38)	missense	possibly damaging	0.93
R7013:Dsg4	UTSW	18	20,458,521 (GRCm38)	missense	possibly damaging	0.58
R7040:Dsg4	UTSW	18	20,451,852 (GRCm38)	missense	probably benign	0.01
R7196:Dsg4	UTSW	18	20,466,480 (GRCm38)	missense	probably damaging	1.00
R7432:Dsg4	UTSW	18	20,446,266 (GRCm38)	nonsense	probably null
R7438:Dsg4	UTSW	18	20,466,628 (GRCm38)	missense	probably damaging	0.96
R7490:Dsg4	UTSW	18	20,451,936 (GRCm38)	splice site	probably null
R7612:Dsg4	UTSW	18	20,470,990 (GRCm38)	missense	probably damaging	1.00
R7639:Dsg4	UTSW	18	20,449,712 (GRCm38)	missense	probably damaging	1.00
R7905:Dsg4	UTSW	18	20,454,669 (GRCm38)	missense	probably damaging	1.00
R8251:Dsg4	UTSW	18	20,471,164 (GRCm38)	missense	probably damaging	1.00
R8326:Dsg4	UTSW	18	20,449,731 (GRCm38)	missense	probably benign	0.31
R8554:Dsg4	UTSW	18	20,453,043 (GRCm38)	missense	probably damaging	1.00
R8911:Dsg4	UTSW	18	20,451,872 (GRCm38)	nonsense	probably null
R9059:Dsg4	UTSW	18	20,471,125 (GRCm38)	missense	possibly damaging	0.62
R9508:Dsg4	UTSW	18	20,471,013 (GRCm38)	missense	probably damaging	1.00
R9607:Dsg4	UTSW	18	20,452,990 (GRCm38)	missense	probably benign	0.00
R9765:Dsg4	UTSW	18	20,471,277 (GRCm38)	missense	probably benign	0.02

Posted On

2014-01-21