Mutagenetix > Incidental Mutation

Incidental Mutation 'R3551:Dsg4'

268366

Institutional Source

Beutler Lab

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

CDHF13, lah

MMRRC Submission

040668-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

R3551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20569232-20604878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20584813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 176 (V176M)

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

AlphaFold

Q7TMD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019426
AA Change: V176M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: V176M

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,152,450 (GRCm39)	Y866N	probably damaging	Het
Adam24	G	C	8: 41,132,632 (GRCm39)	W33C	probably benign	Het
Adgrl2	A	T	3: 148,564,599 (GRCm39)	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329 (GRCm39)	N17I	probably benign	Het
Bicra	T	A	7: 15,713,658 (GRCm39)	Q848L	probably benign	Het
C4b	T	C	17: 34,960,846 (GRCm39)	E240G	possibly damaging	Het
Ccni	T	C	5: 93,335,620 (GRCm39)	S173G	probably benign	Het
Clca3a2	T	A	3: 144,508,842 (GRCm39)	N50I	probably damaging	Het
Dcaf7	A	G	11: 105,945,622 (GRCm39)	T324A	probably benign	Het
Dnah12	G	A	14: 26,492,929 (GRCm39)	R1230H	probably benign	Het
Ect2l	A	G	10: 18,039,141 (GRCm39)	I339T	probably damaging	Het
Edc4	A	T	8: 106,612,126 (GRCm39)	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,992,409 (GRCm39)	V401E	probably damaging	Het
Gm3269	T	A	14: 16,033,003 (GRCm39)	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,275,269 (GRCm39)		noncoding transcript	Het
Gm4922	A	T	10: 18,660,244 (GRCm39)	N159K	probably benign	Het
Gm5134	G	T	10: 75,836,281 (GRCm39)	A421S	probably benign	Het
Hrc	G	C	7: 44,985,757 (GRCm39)	E303Q	possibly damaging	Het
Ipo4	A	G	14: 55,870,560 (GRCm39)	V288A	probably benign	Het
Kng2	A	G	16: 22,830,745 (GRCm39)		probably null	Het
Lrfn1	T	C	7: 28,159,479 (GRCm39)	L466P	possibly damaging	Het
Magi1	T	A	6: 93,676,610 (GRCm39)	K916N	probably damaging	Het
Mms19	T	C	19: 41,938,237 (GRCm39)	T720A	probably benign	Het
Muc5b	A	G	7: 141,415,072 (GRCm39)	T2673A	possibly damaging	Het
Myo15a	C	T	11: 60,400,489 (GRCm39)	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,326,643 (GRCm39)	M43L	probably benign	Het
Nup43	A	G	10: 7,550,778 (GRCm39)	D216G	possibly damaging	Het
Or1e19	T	C	11: 73,316,678 (GRCm39)	I44V	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,841,270 (GRCm39)	R330L	probably benign	Het
Pear1	A	G	3: 87,665,439 (GRCm39)	F145L	probably benign	Het
Pgap1	A	G	1: 54,569,302 (GRCm39)	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,985,963 (GRCm39)		probably null	Het
Ptpn12	T	C	5: 21,194,047 (GRCm39)	K742E	possibly damaging	Het
Ryr1	T	A	7: 28,756,422 (GRCm39)	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,592,804 (GRCm39)	T138S	probably benign	Het
Slc4a2	C	T	5: 24,635,099 (GRCm39)	T168M	probably benign	Het
Slco1a7	T	C	6: 141,654,322 (GRCm39)	K647E	probably benign	Het
Spice1	G	T	16: 44,178,232 (GRCm39)	S85I	probably damaging	Het
Thrb	T	A	14: 17,963,214 (GRCm38)	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,892,756 (GRCm39)	D103G	probably damaging	Het
Ubap2l	G	T	3: 89,922,758 (GRCm39)	T766N	unknown	Het
Zfp692	C	T	11: 58,200,254 (GRCm39)	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,539,585 (GRCm39)	V255A	probably damaging	Het
Zfp759	T	C	13: 67,287,031 (GRCm39)	V194A	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
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'- ATGTGGGTGATGCAACTCC -3'
(R):5'- TGAGCACTGGACTAAGGTCAC -3'

Sequencing Primer
(F):5'- TGCCTGGAGGGATTGAAT -3'
(R):5'- GGACTAAGGTCACACACAATTTATC -3'

Posted On

2015-02-19