Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03342:Dsg4'

417277

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsg4

Ensembl Gene

ENSMUSG00000001804

Gene Name

desmoglein 4

Synonyms

lah, CDHF13

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

20436175-20471821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20451823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 198 (I198N)

Ref Sequence

ENSEMBL: ENSMUSP00000019426 (fasta)

Gene Model

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

AlphaFold

Q7TMD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019426
AA Change: I198N

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

SMART Domains

Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: I198N

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,287,691	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,665,135	R136I	probably damaging	Het
Acap2	A	G	16: 31,105,492	V641A	probably damaging	Het
Afg3l2	A	T	18: 67,407,320	D706E	probably benign	Het
Bbs1	A	T	19: 4,897,593	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,466,944		probably null	Het
Car2	A	T	3: 14,895,569	D129V	probably benign	Het
Catsper2	T	C	2: 121,406,736	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,051,055	R452M	probably benign	Het
Chrm1	A	T	19: 8,679,308	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264		probably benign	Het
Coa7	A	G	4: 108,332,229	D42G	probably damaging	Het
Ctsz	T	C	2: 174,429,140	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,810,407	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,855,117	P489S	probably damaging	Het
Cyp4f15	A	T	17: 32,697,936	I276F	probably damaging	Het
Dsg1b	T	A	18: 20,409,460	M1008K	probably benign	Het
Dtymk	C	A	1: 93,794,819	E87D	probably benign	Het
Dysf	T	A	6: 84,190,872	D1749E	probably benign	Het
Dzip3	G	T	16: 48,929,623	Q1050K	probably damaging	Het
Echs1	C	T	7: 140,110,113		probably benign	Het
Enc1	T	A	13: 97,246,470	I496N	possibly damaging	Het
Epc2	A	T	2: 49,536,646	Y139F	probably benign	Het
Exo1	A	T	1: 175,892,127	N246I	probably benign	Het
Flg2	A	G	3: 93,201,235	K190R	probably damaging	Het
Gm5424	A	T	10: 62,072,192		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,574,543	T133P	probably benign	Het
Gpr155	A	G	2: 73,349,678	F146S	probably damaging	Het
Grm1	T	A	10: 11,079,971	I190L	probably benign	Het
Hif3a	C	T	7: 17,041,122	R515H	possibly damaging	Het
Kdm5b	G	A	1: 134,602,576	D442N	probably benign	Het
Manba	A	T	3: 135,517,987	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,892,231	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,491,390	L163P	probably damaging	Het
Med1	A	T	11: 98,189,180		probably null	Het
Mtrf1	T	A	14: 79,415,872		probably null	Het
Mtrf1	C	T	14: 79,415,871		probably benign	Het
Mtrf1	A	G	14: 79,415,980	D365G	possibly damaging	Het
Myadm	C	T	7: 3,296,887	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,133,262	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,445,318	L690P	probably damaging	Het
Nlrp1a	A	T	11: 71,122,791	D544E	probably benign	Het
Nlrp2	A	T	7: 5,317,483	L20Q	probably damaging	Het
Olfr1053	A	T	2: 86,315,235	I17N	possibly damaging	Het
Olfr1504	A	G	19: 13,887,437	Y258H	probably damaging	Het
Olfr390	T	A	11: 73,787,483	S182T	probably benign	Het
Padi3	G	A	4: 140,810,598	Q4*	probably null	Het
Pfkl	A	T	10: 78,005,475	I13K	possibly damaging	Het
Pinx1	A	G	14: 63,919,569	D315G	probably benign	Het
Prickle3	A	G	X: 7,663,496	D47G	probably benign	Het
Psmd10	A	T	X: 140,956,654	V5E	probably damaging	Het
Rasgrf2	C	A	13: 91,987,979	V605F	probably damaging	Het
Smarca1	G	T	X: 47,892,269	A84D	probably damaging	Het
Sp2	A	G	11: 96,961,762	V112A	probably damaging	Het
Srgap3	G	A	6: 112,775,687	R279C	probably damaging	Het
Ssfa2	G	A	2: 79,660,452	M971I	probably damaging	Het
Trav21-dv12	T	C	14: 53,876,044	L10P	unknown	Het
Vmn1r236	A	T	17: 21,286,974	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,509,372	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,427,916	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,138,683	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,524,223	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,215,471	G130*	probably null	Het

Other mutations in Dsg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Dsg4	APN	18	20461326	missense	probably benign	0.22
IGL01723:Dsg4	APN	18	20466510	missense	probably damaging	1.00
IGL02249:Dsg4	APN	18	20461304	missense	possibly damaging	0.69
IGL02445:Dsg4	APN	18	20446250	splice site	probably benign
IGL02553:Dsg4	APN	18	20462520	missense	probably benign
IGL02578:Dsg4	APN	18	20471193	missense	possibly damaging	0.94
IGL02634:Dsg4	APN	18	20458580	missense	probably benign	0.01
IGL02677:Dsg4	APN	18	20464876	missense	possibly damaging	0.62
IGL02741:Dsg4	APN	18	20471496	missense	probably benign
IGL02747:Dsg4	APN	18	20446938	missense	probably damaging	0.97
burrito	UTSW	18	20451862	missense	possibly damaging	0.81
woodshed	UTSW	18	20451872	nonsense	probably null
R0043:Dsg4	UTSW	18	20452972	missense	probably damaging	1.00
R0375:Dsg4	UTSW	18	20470879	missense	probably damaging	1.00
R0537:Dsg4	UTSW	18	20458571	missense	probably damaging	1.00
R0619:Dsg4	UTSW	18	20461359	missense	probably benign	0.00
R0622:Dsg4	UTSW	18	20449788	missense	possibly damaging	0.51
R0765:Dsg4	UTSW	18	20454646	splice site	probably benign
R0786:Dsg4	UTSW	18	20449372	critical splice donor site	probably null
R1114:Dsg4	UTSW	18	20466483	missense	possibly damaging	0.62
R1249:Dsg4	UTSW	18	20446872	nonsense	probably null
R1372:Dsg4	UTSW	18	20449676	splice site	probably null
R1382:Dsg4	UTSW	18	20465124	missense	probably benign	0.00
R1392:Dsg4	UTSW	18	20446247	splice site	probably benign
R1442:Dsg4	UTSW	18	20462660	missense	possibly damaging	0.76
R1503:Dsg4	UTSW	18	20449679	missense	probably damaging	1.00
R1704:Dsg4	UTSW	18	20471589	missense	probably damaging	1.00
R1716:Dsg4	UTSW	18	20462461	nonsense	probably null
R1765:Dsg4	UTSW	18	20456831	missense	probably benign	0.01
R1817:Dsg4	UTSW	18	20471245	missense	probably damaging	1.00
R1982:Dsg4	UTSW	18	20471212	missense	probably damaging	1.00
R2025:Dsg4	UTSW	18	20466636	nonsense	probably null
R2097:Dsg4	UTSW	18	20471044	missense	probably damaging	1.00
R2198:Dsg4	UTSW	18	20461442	missense	probably benign
R3551:Dsg4	UTSW	18	20451756	missense	probably damaging	1.00
R3742:Dsg4	UTSW	18	20471001	missense	probably damaging	1.00
R3853:Dsg4	UTSW	18	20449234	missense	probably benign
R3955:Dsg4	UTSW	18	20449375	splice site	probably null
R4006:Dsg4	UTSW	18	20470965	missense	probably damaging	0.97
R4012:Dsg4	UTSW	18	20451862	missense	possibly damaging	0.81
R4171:Dsg4	UTSW	18	20458579	nonsense	probably null
R4254:Dsg4	UTSW	18	20471538	missense	probably benign	0.07
R4504:Dsg4	UTSW	18	20461436	missense	probably benign	0.00
R4559:Dsg4	UTSW	18	20470921	missense	probably damaging	1.00
R4607:Dsg4	UTSW	18	20471245	missense	probably damaging	1.00
R4612:Dsg4	UTSW	18	20462413	missense	probably benign	0.10
R4683:Dsg4	UTSW	18	20461409	missense	probably benign
R4700:Dsg4	UTSW	18	20456908	missense	possibly damaging	0.91
R4749:Dsg4	UTSW	18	20446831	missense	possibly damaging	0.88
R4775:Dsg4	UTSW	18	20471127	missense	possibly damaging	0.48
R4809:Dsg4	UTSW	18	20466621	missense	possibly damaging	0.82
R5276:Dsg4	UTSW	18	20446839	missense	probably benign	0.21
R5426:Dsg4	UTSW	18	20458484	missense	probably damaging	1.00
R5767:Dsg4	UTSW	18	20462492	nonsense	probably null
R5982:Dsg4	UTSW	18	20465169	missense	possibly damaging	0.76
R6280:Dsg4	UTSW	18	20466667	missense	probably damaging	1.00
R6305:Dsg4	UTSW	18	20449790	missense	probably damaging	1.00
R6489:Dsg4	UTSW	18	20471363	missense	possibly damaging	0.93
R7013:Dsg4	UTSW	18	20458521	missense	possibly damaging	0.58
R7040:Dsg4	UTSW	18	20451852	missense	probably benign	0.01
R7196:Dsg4	UTSW	18	20466480	missense	probably damaging	1.00
R7432:Dsg4	UTSW	18	20446266	nonsense	probably null
R7438:Dsg4	UTSW	18	20466628	missense	probably damaging	0.96
R7490:Dsg4	UTSW	18	20451936	splice site	probably null
R7612:Dsg4	UTSW	18	20470990	missense	probably damaging	1.00
R7639:Dsg4	UTSW	18	20449712	missense	probably damaging	1.00
R7905:Dsg4	UTSW	18	20454669	missense	probably damaging	1.00
R8251:Dsg4	UTSW	18	20471164	missense	probably damaging	1.00
R8326:Dsg4	UTSW	18	20449731	missense	probably benign	0.31
R8554:Dsg4	UTSW	18	20453043	missense	probably damaging	1.00
R8911:Dsg4	UTSW	18	20451872	nonsense	probably null
R9059:Dsg4	UTSW	18	20471125	missense	possibly damaging	0.62
R9508:Dsg4	UTSW	18	20471013	missense	probably damaging	1.00
R9607:Dsg4	UTSW	18	20452990	missense	probably benign	0.00
R9765:Dsg4	UTSW	18	20471277	missense	probably benign	0.02

Posted On

2016-08-02