Mutagenetix > Incidental Mutation

Incidental Mutation 'R7432:Dsg4'

576600

Institutional Source

Beutler Lab

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

CDHF13, lah

MMRRC Submission

045510-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.626) question?

Stock #

R7432 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20569232-20604878 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 20579323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 20 (G20*)

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

AlphaFold

Q7TMD7

Predicted Effect

probably null
Transcript: ENSMUST00000019426
AA Change: G20*

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: G20*

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,468,839 (GRCm39)	I31V	probably benign	Het
Adamts17	A	G	7: 66,701,665 (GRCm39)	K40E		Het
Akr1c14	G	A	13: 4,138,952 (GRCm39)	D312N	probably benign	Het
Alg6	T	C	4: 99,641,295 (GRCm39)	V398A	probably benign	Het
Ankmy1	A	T	1: 92,823,801 (GRCm39)	M155K	probably benign	Het
Arid5b	C	A	10: 67,954,096 (GRCm39)	R396L	probably damaging	Het
Armt1	C	A	10: 4,382,706 (GRCm39)	D12E	probably benign	Het
Arrb2	T	A	11: 70,328,796 (GRCm39)	N217K	probably benign	Het
Atg2b	A	T	12: 105,627,463 (GRCm39)	L508Q	probably damaging	Het
Atg2b	A	T	12: 105,630,957 (GRCm39)	S323T	probably benign	Het
Atp1a3	G	A	7: 24,705,300 (GRCm39)		probably benign	Het
Atp6v0e	T	C	17: 26,901,672 (GRCm39)	V42A	probably benign	Het
Atp9b	A	G	18: 80,809,056 (GRCm39)	V621A		Het
Atrnl1	A	C	19: 57,743,956 (GRCm39)	D1186A	probably damaging	Het
Atxn2l	A	T	7: 126,093,046 (GRCm39)	M821K	possibly damaging	Het
Blnk	G	A	19: 40,948,301 (GRCm39)	R123*	probably null	Het
Bud13	T	A	9: 46,198,372 (GRCm39)	S98T	probably benign	Het
Ccdc183	T	C	2: 25,499,469 (GRCm39)	M455V	probably benign	Het
Cd109	A	G	9: 78,622,225 (GRCm39)	Y1405C	possibly damaging	Het
Cdan1	A	T	2: 120,553,236 (GRCm39)	L989Q	probably damaging	Het
Clec16a	T	C	16: 10,506,419 (GRCm39)	I713T	possibly damaging	Het
Clta	T	A	4: 44,032,419 (GRCm39)	F168L	possibly damaging	Het
Cnnm1	A	T	19: 43,456,710 (GRCm39)	H583L	probably benign	Het
Cyp4f18	A	G	8: 72,749,906 (GRCm39)	Y248H	probably benign	Het
Dusp12	T	A	1: 170,707,345 (GRCm39)	K248*	probably null	Het
Eeig2	C	T	3: 108,910,723 (GRCm39)	A51T	probably damaging	Het
Elp1	C	T	4: 56,776,925 (GRCm39)	G624D	probably damaging	Het
Fhod3	A	G	18: 25,134,966 (GRCm39)	D359G	possibly damaging	Het
Frmpd2	C	A	14: 33,229,510 (GRCm39)	F365L	probably damaging	Het
Gab1	A	G	8: 81,515,298 (GRCm39)	I340T	probably benign	Het
Gabpa	C	T	16: 84,654,408 (GRCm39)	Q362*	probably null	Het
Gcnt2	A	T	13: 41,040,688 (GRCm39)		probably benign	Het
Gm12728	T	A	4: 105,651,486 (GRCm39)	L32Q	probably damaging	Het
Gpatch4	A	G	3: 87,959,003 (GRCm39)	N35D	probably damaging	Het
Grid2	G	T	6: 64,252,854 (GRCm39)	V441L	possibly damaging	Het
H2-M2	A	G	17: 37,792,361 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,129,829 (GRCm39)	F180L	probably benign	Het
Il17re	T	C	6: 113,439,332 (GRCm39)	F81L	probably benign	Het
Il3ra	T	C	14: 14,350,691 (GRCm38)	V235A	possibly damaging	Het
Krtap6-2	C	T	16: 89,216,761 (GRCm39)	G69S	unknown	Het
Lmln	T	C	16: 32,909,738 (GRCm39)	L373P	probably damaging	Het
Lmo7	C	A	14: 102,139,551 (GRCm39)	Q945K	probably benign	Het
Loxhd1	G	T	18: 77,383,547 (GRCm39)	V149L	possibly damaging	Het
Lrrc73	T	C	17: 46,566,709 (GRCm39)		probably null	Het
Mapkapk5	G	A	5: 121,675,234 (GRCm39)	H112Y	possibly damaging	Het
Maz	A	G	7: 126,622,220 (GRCm39)	V467A	probably benign	Het
Med13l	T	G	5: 118,890,003 (GRCm39)	V1884G	probably damaging	Het
Nlrp12	A	C	7: 3,271,213 (GRCm39)	N1033K	probably benign	Het
Nos3	T	A	5: 24,572,613 (GRCm39)	V184E	probably damaging	Het
Npr2	T	C	4: 43,647,155 (GRCm39)	V737A	probably damaging	Het
Nsd1	A	G	13: 55,361,187 (GRCm39)	T52A	probably benign	Het
Obscn	C	T	11: 58,919,733 (GRCm39)	R108Q		Het
Or4k50-ps1	A	G	2: 111,522,401 (GRCm39)	*179W	probably null	Het
Or4x11	A	T	2: 89,867,528 (GRCm39)	K88N	probably damaging	Het
Or5t5	G	T	2: 86,616,565 (GRCm39)	G164*	probably null	Het
Or5w22	T	C	2: 87,362,784 (GRCm39)	S136P	probably damaging	Het
Or6c70	T	C	10: 129,709,719 (GRCm39)	I302M	probably benign	Het
Or9a4	C	A	6: 40,549,240 (GRCm39)	R307S	probably benign	Het
Ovol2	A	G	2: 144,159,792 (GRCm39)	V116A	probably benign	Het
Pcdha5	C	A	18: 37,095,379 (GRCm39)	S629R	probably benign	Het
Pde4dip	T	A	3: 97,602,408 (GRCm39)	M2274L	probably benign	Het
Pdpk1	T	C	17: 24,320,643 (GRCm39)	T185A	probably benign	Het
Pip5k1a	T	G	3: 94,981,431 (GRCm39)	T67P	probably benign	Het
Plat	G	T	8: 23,263,667 (GRCm39)	V189F	probably damaging	Het
Ppm1a	C	T	12: 72,830,916 (GRCm39)	S147L	probably damaging	Het
Prim1	T	A	10: 127,851,885 (GRCm39)	D52E	probably damaging	Het
Prkab1	C	G	5: 116,162,221 (GRCm39)	D30H	possibly damaging	Het
Psma6	A	T	12: 55,445,613 (GRCm39)		probably benign	Het
Psmd2	T	A	16: 20,473,675 (GRCm39)	M196K	probably damaging	Het
Ralgapa2	G	T	2: 146,276,776 (GRCm39)	T488K	probably benign	Het
Rapgefl1	A	G	11: 98,741,940 (GRCm39)	K635E	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rgs11	G	A	17: 26,426,734 (GRCm39)	V289M	probably damaging	Het
Ro60	T	C	1: 143,641,548 (GRCm39)	I304M	probably benign	Het
Scmh1	T	C	4: 120,386,353 (GRCm39)	L631P	probably damaging	Het
Sema3e	T	G	5: 14,274,404 (GRCm39)	D218E	probably damaging	Het
Sh3rf2	T	C	18: 42,187,091 (GRCm39)	V70A	probably damaging	Het
Slc12a1	G	T	2: 125,047,960 (GRCm39)	V801L	probably benign	Het
Slc25a51	C	G	4: 45,399,765 (GRCm39)	A142P	possibly damaging	Het
Slc41a1	C	T	1: 131,758,694 (GRCm39)	T112I	probably damaging	Het
Slc44a2	T	C	9: 21,254,511 (GRCm39)	M264T	probably benign	Het
Snapc1	T	A	12: 74,015,068 (GRCm39)	M134K	probably benign	Het
Snrk	T	C	9: 121,986,276 (GRCm39)	F215S	probably damaging	Het
Stab2	T	C	10: 86,721,547 (GRCm39)	E1526G	probably damaging	Het
Tbc1d10a	C	A	11: 4,163,016 (GRCm39)	Y260*	probably null	Het
Tdrd5	A	T	1: 156,130,002 (GRCm39)	L56Q	probably damaging	Het
Tenm2	T	C	11: 36,755,768 (GRCm39)	T77A	probably benign	Het
Tmprss11g	T	G	5: 86,644,366 (GRCm39)	R159S	possibly damaging	Het
Traj38	T	A	14: 54,418,034 (GRCm39)	N1K		Het
Ttn	A	G	2: 76,596,631 (GRCm39)	I20094T	possibly damaging	Het
Ubr4	T	C	4: 139,115,693 (GRCm39)	L64P	probably damaging	Het
Utp20	C	T	10: 88,634,260 (GRCm39)	R812Q	probably benign	Het
Vmn2r57	C	A	7: 41,076,148 (GRCm39)	V455L	probably benign	Het
Wdcp	T	C	12: 4,900,246 (GRCm39)	V34A	probably damaging	Het
Zfp27	C	T	7: 29,594,784 (GRCm39)	V394I	probably benign	Het
Zfp512b	T	C	2: 181,231,649 (GRCm39)	H177R	probably benign	Het
Zfp648	T	A	1: 154,080,783 (GRCm39)	M314K	possibly damaging	Het
Zfp811	T	C	17: 33,017,733 (GRCm39)	I102M	possibly damaging	Het
Zkscan6	A	G	11: 65,705,189 (GRCm39)		probably null	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
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
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'- ACTCTTCTTCGGCTATGGAATAGTG -3'
(R):5'- TTTCAGTTAGGCCCAGGTTC -3'

Sequencing Primer
(F):5'- GAATCTTTCACTGAACCTGGAGC -3'
(R):5'- AGTTAGGCCCAGGTTCTGTCTTATAC -3'

Posted On

2019-10-07