Mutagenetix > Incidental Mutation

Incidental Mutation 'R4171:Dsg4'

318151

Institutional Source

Beutler Lab

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

CDHF13, lah

MMRRC Submission

041011-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

R4171 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20569232-20604878 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 20591636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 458 (Y458*)

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

AlphaFold

Q7TMD7

Predicted Effect

probably null
Transcript: ENSMUST00000019426
AA Change: Y458*

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: Y458*

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

Meta Mutation Damage Score

0.9716

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (42/42)

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
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
2310022A10Rik	A	G	7: 27,265,109 (GRCm39)	N87S	probably benign	Het
Apmap	A	G	2: 150,425,987 (GRCm39)	V387A	probably benign	Het
B130024G19Rik	C	T	7: 70,038,454 (GRCm39)		noncoding transcript	Het
Cd200r1	A	G	16: 44,613,127 (GRCm39)	I244M	probably damaging	Het
Clic6	T	C	16: 92,293,949 (GRCm39)		probably benign	Het
Col11a1	A	G	3: 114,001,863 (GRCm39)	D429G	probably damaging	Het
Elapor1	G	T	3: 108,368,259 (GRCm39)	Q885K	probably benign	Het
Fbxl13	A	G	5: 21,748,786 (GRCm39)	Y378H	probably benign	Het
Ifi203	A	C	1: 173,761,341 (GRCm39)		probably benign	Het
Ifna6	T	C	4: 88,746,038 (GRCm39)	V129A	probably benign	Het
Igkv3-4	G	A	6: 70,649,324 (GRCm39)	A108T	probably damaging	Het
Itga1	G	A	13: 115,167,422 (GRCm39)	Q165*	probably null	Het
Kdm4c	T	A	4: 74,199,135 (GRCm39)	Y108N	possibly damaging	Het
Lap3	T	C	5: 45,666,833 (GRCm39)	S412P	probably benign	Het
Lrfn5	G	A	12: 61,890,168 (GRCm39)	V486I	probably damaging	Het
Mep1b	A	T	18: 21,228,163 (GRCm39)		probably null	Het
Mettl6	T	C	14: 31,215,624 (GRCm39)	N52S	probably damaging	Het
Nup54	A	G	5: 92,565,343 (GRCm39)	I458T	possibly damaging	Het
Or1e16	A	C	11: 73,286,365 (GRCm39)	L161R	probably damaging	Het
Or6c204	G	A	10: 129,022,453 (GRCm39)	A279V	probably benign	Het
Pecr	A	T	1: 72,315,428 (GRCm39)	N107K	probably damaging	Het
Pnpla6	A	G	8: 3,593,997 (GRCm39)	Q1307R	probably benign	Het
Poll	T	C	19: 45,544,492 (GRCm39)	K310E	probably damaging	Het
Rab29	A	G	1: 131,795,475 (GRCm39)	Q29R	probably benign	Het
Reg2	G	A	6: 78,383,574 (GRCm39)	G99D	probably damaging	Het
Rftn2	G	A	1: 55,253,429 (GRCm39)	S58L	probably damaging	Het
Rps6kb1	T	C	11: 86,435,405 (GRCm39)	E43G	possibly damaging	Het
Sdk2	T	C	11: 113,757,815 (GRCm39)		probably null	Het
Slc38a6	T	A	12: 73,397,326 (GRCm39)	Y323N	probably benign	Het
Sp100	T	C	1: 85,634,562 (GRCm39)	S152P	probably benign	Het
Tmc5	A	G	7: 118,248,810 (GRCm39)	Y605C	probably damaging	Het
Txndc17	T	C	11: 72,098,537 (GRCm39)	Y30H	probably damaging	Het
Vmn1r44	T	A	6: 89,870,996 (GRCm39)	F247L	probably damaging	Het
Zbtb39	C	T	10: 127,578,236 (GRCm39)	T270I	possibly damaging	Het
Zfp512b	G	A	2: 181,232,391 (GRCm39)		probably null	Het
Zwilch	T	A	9: 64,065,997 (GRCm39)	R255*	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
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'- GGTATTGTTGCCAACCTAACAC -3'
(R):5'- GTGAGATACATTTTGGCTTGAGTAC -3'

Sequencing Primer
(F):5'- ACATTTAATCCTGGATACTCACCGG -3'
(R):5'- CATTTTGGCTTGAGTACAATTTATGG -3'

Posted On

2015-06-10