Mutagenetix > Incidental Mutation

Incidental Mutation 'R0786:Dsg4'

76881

Institutional Source

Beutler Lab

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

CDHF13, lah

MMRRC Submission

038966-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

R0786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20569232-20604878 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 20582429 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 null
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

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 92.6%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb3	T	C	8: 27,716,880 (GRCm39)		probably benign	Het
Atg2b	T	C	12: 105,602,767 (GRCm39)	H1592R	probably benign	Het
Bpifb1	C	T	2: 154,044,581 (GRCm39)	A16V	probably benign	Het
Cep57	T	A	9: 13,721,166 (GRCm39)	Y271F	probably damaging	Het
Cfap54	A	T	10: 92,803,397 (GRCm39)	N1548K	possibly damaging	Het
Chrna6	A	T	8: 27,898,408 (GRCm39)	D103E	probably benign	Het
Clec12b	T	C	6: 129,357,651 (GRCm39)	N69S	probably benign	Het
Col27a1	T	C	4: 63,209,815 (GRCm39)		probably null	Het
Cwh43	T	A	5: 73,565,526 (GRCm39)	Y30*	probably null	Het
Dnai7	A	G	6: 145,127,483 (GRCm39)		probably null	Het
Efna3	T	C	3: 89,223,880 (GRCm39)	N103S	probably damaging	Het
Efr3a	A	G	15: 65,725,400 (GRCm39)	D532G	possibly damaging	Het
Fam227a	A	T	15: 79,510,469 (GRCm39)	V395D	probably benign	Het
Fes	T	A	7: 80,036,668 (GRCm39)	D93V	probably damaging	Het
Gbp3	T	A	3: 142,276,732 (GRCm39)	M510K	possibly damaging	Het
Gpr12	A	T	5: 146,520,314 (GRCm39)	S44T	probably damaging	Het
Gpr179	T	C	11: 97,234,100 (GRCm39)	N583S	probably damaging	Het
Hipk1	T	C	3: 103,651,620 (GRCm39)	T1093A	probably benign	Het
Hspb1	T	C	5: 135,918,097 (GRCm39)	L148P	probably damaging	Het
Kirrel3	A	G	9: 34,946,161 (GRCm39)	N640S	probably damaging	Het
Mak	G	T	13: 41,199,545 (GRCm39)	Q365K	probably benign	Het
Melk	A	G	4: 44,303,649 (GRCm39)	Y14C	unknown	Het
Myh7	T	C	14: 55,230,330 (GRCm39)	M1V	probably null	Het
Nsmf	A	G	2: 24,950,522 (GRCm39)	Y330C	probably damaging	Het
Parp14	A	G	16: 35,661,172 (GRCm39)	F1592S	possibly damaging	Het
Pnpla6	A	T	8: 3,573,317 (GRCm39)	I394F	probably benign	Het
Ppl	T	C	16: 4,906,918 (GRCm39)	R1126G	probably damaging	Het
Prss8	C	T	7: 127,525,646 (GRCm39)	R291Q	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rasgrp1	G	T	2: 117,130,980 (GRCm39)	D155E	probably benign	Het
Recql5	T	C	11: 115,786,628 (GRCm39)	I563V	probably benign	Het
Rhbg	C	T	3: 88,151,875 (GRCm39)	M394I	probably benign	Het
Rnf130	A	G	11: 49,978,264 (GRCm39)	D275G	probably damaging	Het
Smg9	T	C	7: 24,120,289 (GRCm39)	F421S	probably benign	Het
Tgm2	T	C	2: 157,966,301 (GRCm39)	E451G	probably damaging	Het
Tle1	T	A	4: 72,117,598 (GRCm39)	T21S	probably damaging	Het
Tmc5	T	C	7: 118,226,433 (GRCm39)	I266T	possibly damaging	Het
Tmigd3	T	A	3: 105,824,318 (GRCm39)	C96S	probably damaging	Het
Trdn	A	T	10: 33,181,077 (GRCm39)	T361S	probably benign	Het
Vgll3	A	T	16: 65,657,568 (GRCm39)	Q261L	probably benign	Het
Vmn2r104	A	T	17: 20,262,987 (GRCm39)	I158K	probably benign	Het
Zfp964	A	G	8: 70,116,731 (GRCm39)	K444E	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
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

Predicted Primers

PCR Primer
(F):5'- ACCACAGTTTGAAGCTTGGAGAGG -3'
(R):5'- CAGGTGTAGTACATGGGACACCAAC -3'

Sequencing Primer
(F):5'- AGTTGTGTTAGGTCCCAACC -3'
(R):5'- TAGTACATGGGACACCAACTTAGC -3'

Posted On

2013-10-16