Mutagenetix > Incidental Mutation

Incidental Mutation 'R7639:Dsg4'

590153

Institutional Source

Beutler Lab

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

CDHF13, lah

MMRRC Submission

045697-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

R7639 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20569232-20604878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20582769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 136 (D136Y)

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

AlphaFold

Q7TMD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019426
AA Change: D136Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: D136Y

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: 99.8%
20x: 99.3%

Validation Efficiency

98% (45/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,977,531 (GRCm39)	M381L	probably benign	Het
Abl1	T	A	2: 31,669,173 (GRCm39)	L184Q	probably damaging	Het
Atp8b1	A	G	18: 64,697,614 (GRCm39)	V410A	possibly damaging	Het
Bhmt2	C	T	13: 93,799,822 (GRCm39)	G205R	probably damaging	Het
Bicd1	A	G	6: 149,414,502 (GRCm39)	D405G	possibly damaging	Het
Brip1	A	T	11: 86,043,648 (GRCm39)		probably null	Het
Ccdc180	A	T	4: 45,928,043 (GRCm39)	I1193F	possibly damaging	Het
Cdc14b	A	G	13: 64,353,143 (GRCm39)	C478R	possibly damaging	Het
Celsr1	C	T	15: 85,814,073 (GRCm39)	E1950K	probably benign	Het
Cnot7	A	G	8: 40,960,494 (GRCm39)		probably null	Het
Defa34	A	T	8: 22,155,883 (GRCm39)	K24I	probably benign	Het
Dync2h1	C	A	9: 7,141,254 (GRCm39)	V1258F	probably damaging	Het
Erbb3	A	G	10: 128,405,716 (GRCm39)	S1181P	probably damaging	Het
Evl	A	G	12: 108,652,362 (GRCm39)	D366G	probably damaging	Het
Fam234b	A	T	6: 135,202,798 (GRCm39)		probably null	Het
Fanca	A	G	8: 124,018,134 (GRCm39)		probably null	Het
Fbxo46	T	A	7: 18,870,560 (GRCm39)	V393E	probably damaging	Het
Gkap1	T	G	13: 58,411,784 (GRCm39)	K63T	probably damaging	Het
Hfm1	T	A	5: 107,037,791 (GRCm39)	D742V	probably benign	Het
Hfm1	A	G	5: 107,046,341 (GRCm39)	V515A	possibly damaging	Het
Itga10	G	A	3: 96,556,898 (GRCm39)	V207I	probably benign	Het
Lipi	T	A	16: 75,357,743 (GRCm39)	Y274F	probably benign	Het
Mettl8	A	T	2: 70,812,526 (GRCm39)	S36R	probably benign	Het
Miip	A	T	4: 147,947,021 (GRCm39)	M244K	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Nav1	T	C	1: 135,398,860 (GRCm39)	N574S	probably benign	Het
Nlrc4	C	T	17: 74,754,952 (GRCm39)		probably null	Het
Oas2	C	T	5: 120,883,751 (GRCm39)	W244*	probably null	Het
Oat	A	T	7: 132,168,530 (GRCm39)	I163N	probably damaging	Het
Or7a41	A	G	10: 78,871,206 (GRCm39)	D192G	probably damaging	Het
Otop3	T	C	11: 115,235,187 (GRCm39)	M273T	possibly damaging	Het
Poln	A	C	5: 34,290,495 (GRCm39)	V60G	possibly damaging	Het
Ppp1r13b	G	T	12: 111,800,049 (GRCm39)	A699E	probably damaging	Het
Rims1	A	T	1: 22,844,750 (GRCm39)	M19K	probably benign	Het
Rnf145	T	C	11: 44,422,184 (GRCm39)	L89P	probably damaging	Het
Rock1	A	G	18: 10,140,244 (GRCm39)	S116P	probably damaging	Het
Rtn3	C	T	19: 7,435,356 (GRCm39)	C212Y	probably benign	Het
Smcp	G	A	3: 92,491,797 (GRCm39)	P17S	unknown	Het
Syne2	A	C	12: 75,981,273 (GRCm39)	E1525A	probably damaging	Het
Tpra1	A	G	6: 88,887,158 (GRCm39)	D172G	probably benign	Het
Traf2	TAGA	TA	2: 25,427,100 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,957,137 (GRCm39)	T760A	probably benign	Het
Unc13c	T	A	9: 73,840,450 (GRCm39)	S134C	probably damaging	Het
Zfp729b	C	T	13: 67,739,971 (GRCm39)	V765I	probably benign	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
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
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'- GAAGGAGCTAAGTTGGTGTCC -3'
(R):5'- GCTGATAGTTGAGTAAGCTGGC -3'

Sequencing Primer
(F):5'- AGCTAAGTTGGTGTCCCATGTACTAC -3'
(R):5'- TGAGTAAGCTGGCATGCC -3'

Posted On

2019-10-24