Mutagenetix > Incidental Mutation

Incidental Mutation 'R7013:Dsg4'

545149

Institutional Source

Beutler Lab

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

CDHF13, lah

MMRRC Submission

045114-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

R7013 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20569232-20604878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20591578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 439 (V439A)

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

AlphaFold

Q7TMD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019426
AA Change: V439A

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: V439A

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,618,345 (GRCm39)	I213V	probably null	Het
Abcc4	A	T	14: 118,763,755 (GRCm39)	C952S	probably benign	Het
Adhfe1	T	C	1: 9,620,816 (GRCm39)		probably benign	Het
Apob	T	A	12: 8,060,080 (GRCm39)	L2854*	probably null	Het
Arhgap5	T	A	12: 52,565,109 (GRCm39)	N693K	probably benign	Het
Arid5b	A	G	10: 67,933,649 (GRCm39)	V508A	probably damaging	Het
Atl1	A	G	12: 70,000,214 (GRCm39)	E288G	probably damaging	Het
Bank1	A	G	3: 135,806,270 (GRCm39)	S455P	possibly damaging	Het
Ces1c	A	T	8: 93,857,392 (GRCm39)	L63Q	probably damaging	Het
Crmp1	A	T	5: 37,426,036 (GRCm39)		probably null	Het
Csnka2ip	T	C	16: 64,298,780 (GRCm39)	D528G	unknown	Het
Dact2	T	C	17: 14,423,796 (GRCm39)	T66A	probably benign	Het
Dkk2	T	C	3: 131,880,760 (GRCm39)	L135P	probably damaging	Het
Drc3	A	G	11: 60,278,129 (GRCm39)	N381S	probably benign	Het
Dysf	C	T	6: 84,114,340 (GRCm39)	P1240S	probably damaging	Het
Esyt1	A	T	10: 128,361,520 (GRCm39)	V58E	probably damaging	Het
Exo1	G	T	1: 175,721,338 (GRCm39)	A326S	probably damaging	Het
Fam20b	A	G	1: 156,518,135 (GRCm39)	S220P	probably damaging	Het
Fmo6	G	A	1: 162,745,817 (GRCm39)	T402I	probably benign	Het
Galnt10	A	T	11: 57,656,410 (GRCm39)	D198V	probably benign	Het
Gsap	A	T	5: 21,483,108 (GRCm39)	E604D	probably benign	Het
Il20rb	A	G	9: 100,343,481 (GRCm39)	Y258H	probably benign	Het
Impg1	A	T	9: 80,285,776 (GRCm39)	S409R	probably damaging	Het
Jak3	G	T	8: 72,131,425 (GRCm39)	V97F	possibly damaging	Het
Lbhd1	T	C	19: 8,861,523 (GRCm39)	S52P	probably damaging	Het
Lman2l	A	G	1: 36,482,599 (GRCm39)		probably benign	Het
Lnpep	C	A	17: 17,788,625 (GRCm39)	M493I	probably benign	Het
Mpp4	T	C	1: 59,188,774 (GRCm39)	D132G	probably damaging	Het
Nlrp1a	G	A	11: 71,014,378 (GRCm39)	R291W	probably benign	Het
Or1e23	G	T	11: 73,407,247 (GRCm39)	Y259*	probably null	Het
Or4a79	T	A	2: 89,551,730 (GRCm39)	I242F	probably benign	Het
Or4b13	C	T	2: 90,082,441 (GRCm39)	R297Q	possibly damaging	Het
Or4f15	G	A	2: 111,814,308 (GRCm39)	A37V	probably benign	Het
Or4n4b	T	A	14: 50,536,656 (GRCm39)	I37F	probably damaging	Het
Orc5	A	G	5: 22,738,787 (GRCm39)	V158A	probably benign	Het
Pate8	C	A	9: 36,493,854 (GRCm39)	W26C	unknown	Het
Pcdhga3	A	G	18: 37,808,674 (GRCm39)	N376D	probably damaging	Het
Ptprr	T	A	10: 116,072,659 (GRCm39)	I207N	probably damaging	Het
Recql5	A	G	11: 115,785,402 (GRCm39)	V698A	probably benign	Het
Rnf212	A	T	5: 108,877,826 (GRCm39)	M222K	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Smap2	T	C	4: 120,839,365 (GRCm39)	K121E	probably damaging	Het
Syt11	A	T	3: 88,655,296 (GRCm39)	V335D	possibly damaging	Het
Terb1	A	T	8: 105,215,222 (GRCm39)	C251*	probably null	Het
Tmprss11d	C	A	5: 86,474,432 (GRCm39)	R37L	probably damaging	Het
Ttbk2	T	C	2: 120,576,265 (GRCm39)	N904S	possibly damaging	Het
Vmn1r119	T	A	7: 20,745,714 (GRCm39)	I223F	probably damaging	Het
Vmn1r66	T	C	7: 10,008,683 (GRCm39)	R117G	possibly damaging	Het
Zfp106	T	C	2: 120,362,113 (GRCm39)	D1025G	probably 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
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
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'- ACATTTAATCCTGGATACTCACCG -3'
(R):5'- GTGAGATACATTTTGGCTTGAGTAC -3'

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

Posted On

2019-05-13