Mutagenetix > Incidental Mutation

Incidental Mutation 'R3853:Dsg4'

276036

Institutional Source

Beutler Lab

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

CDHF13, lah

MMRRC Submission

040900-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

R3853 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20569232-20604878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20582291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 79 (V79A)

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

AlphaFold

Q7TMD7

Predicted Effect

probably benign
Transcript: ENSMUST00000019426
AA Change: V79A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: V79A

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

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.2%
20x: 94.4%

Validation Efficiency

96% (47/49)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,055,976 (GRCm39)	H316L	probably damaging	Het
Cadps	A	G	14: 12,509,090 (GRCm38)		probably benign	Het
Cluh	A	G	11: 74,547,279 (GRCm39)	D44G	probably benign	Het
Copb1	A	G	7: 113,822,551 (GRCm39)	V726A	probably damaging	Het
Exo1	A	T	1: 175,720,554 (GRCm39)	I291F	probably benign	Het
Eya4	C	T	10: 22,992,574 (GRCm39)	A460T	probably damaging	Het
Gjd3	G	T	11: 102,690,952 (GRCm39)	D350E	probably benign	Het
Hcar2	T	C	5: 124,002,475 (GRCm39)	M343V	probably benign	Het
Ifna15	T	C	4: 88,476,046 (GRCm39)	Y146C	probably damaging	Het
Lce3e	C	T	3: 92,875,139 (GRCm39)	Q32*	probably null	Het
Llgl1	T	C	11: 60,598,075 (GRCm39)	L373P	probably damaging	Het
Mark2	A	G	19: 7,254,655 (GRCm39)	C642R	probably damaging	Het
Mbd3l2	A	G	9: 18,356,092 (GRCm39)	Q139R	probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Nynrin	T	A	14: 56,101,562 (GRCm39)	N410K	probably benign	Het
Or10g7	A	T	9: 39,905,450 (GRCm39)	T115S	probably damaging	Het
Or4a71	A	T	2: 89,357,917 (GRCm39)	M279K	possibly damaging	Het
Or5b112	A	G	19: 13,319,862 (GRCm39)	T247A	possibly damaging	Het
Or7a38	T	A	10: 78,752,781 (GRCm39)	Y36N	probably damaging	Het
Or8b1	G	T	9: 38,400,247 (GRCm39)	R307S	probably benign	Het
Padi3	T	C	4: 140,518,580 (GRCm39)		probably benign	Het
Prkce	A	G	17: 86,476,277 (GRCm39)	D86G	probably damaging	Het
Pwwp3b	C	T	X: 138,137,403 (GRCm39)		probably null	Het
Rad21	T	G	15: 51,835,712 (GRCm39)	I234L	probably benign	Het
Scn4a	A	T	11: 106,210,932 (GRCm39)	M1695K	possibly damaging	Het
Sdccag8	T	C	1: 176,681,361 (GRCm39)	S325P	probably damaging	Het
Sebox	G	A	11: 78,394,975 (GRCm39)	G106R	probably benign	Het
Serpinb9	A	G	13: 33,199,503 (GRCm39)	E266G	possibly damaging	Het
Shoc1	T	C	4: 59,047,390 (GRCm39)	N1410D	possibly damaging	Het
Snx14	T	C	9: 88,289,372 (GRCm39)		probably benign	Het
Tmc6	A	T	11: 117,663,884 (GRCm39)	L474*	probably null	Het
Tmem132c	T	C	5: 127,436,933 (GRCm39)	Y141H	probably benign	Het
Trap1	G	A	16: 3,872,686 (GRCm39)	R328C	possibly damaging	Het
Trim36	C	A	18: 46,305,439 (GRCm39)		probably benign	Het
Trmt2a	A	T	16: 18,069,055 (GRCm39)	Y299F	possibly damaging	Het
Trrap	A	G	5: 144,728,975 (GRCm39)	K630E	probably damaging	Het
Tsnaxip1	A	T	8: 106,567,333 (GRCm39)		probably benign	Het
Ttc6	G	T	12: 57,775,335 (GRCm39)	C1677F	possibly damaging	Het
Ugt2a3	A	T	5: 87,485,018 (GRCm39)	V2D		Het
Usp9x	A	G	X: 12,964,822 (GRCm39)	D77G	probably benign	Het
Wfs1	C	A	5: 37,125,968 (GRCm39)	V308L	probably benign	Het
Zan	A	C	5: 137,472,326 (GRCm39)	L140R	probably damaging	Het
Zc3h3	A	T	15: 75,709,346 (GRCm39)	S508T	probably benign	Het
Zswim3	A	G	2: 164,662,777 (GRCm39)	Y419C	possibly 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
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'- GCACATGCATGCACAAGTG -3'
(R):5'- CATAAACAGGTGTAGTACATGGGAC -3'

Sequencing Primer
(F):5'- GTGCACACACACACACAC -3'
(R):5'- GGGACACCAACTTAGCTCCTTCAG -3'

Posted On

2015-04-06