Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03026:Dsg3'

408195

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsg3

Ensembl Gene

ENSMUSG00000056632

Gene Name

desmoglein 3

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

IGL03026

Quality Score

Status

Chromosome

Chromosomal Location

20643331-20674367 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 20670029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000064718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070892]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000070892

SMART Domains

Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	70	155	3.9e-13	SMART
CA	179	265	2.36e-21	SMART
CA	288	382	1.55e-7	SMART
CA	409	493	6.15e-11	SMART
low complexity region	615	638	N/A	INTRINSIC
low complexity region	643	657	N/A	INTRINSIC
low complexity region	725	736	N/A	INTRINSIC

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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Mice lacking the encoded protein exhibit loss of keratinocyte cell adhesion resulting in a phenotype that resembles that of patients with pemphigus vulgaris. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutants display runting from decreased food intake due to oropharyngeal epithelial lesions, blisters around snout and eyes, hair loss by weaning, and hair regrowth with bald patches throughout life. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,410,516 (GRCm39)	V154A	possibly damaging	Het
Adcy4	T	C	14: 56,015,467 (GRCm39)	Y481C	probably damaging	Het
Adcy5	T	C	16: 34,977,412 (GRCm39)	V315A	probably benign	Het
Atf7ip	G	A	6: 136,582,380 (GRCm39)	S1130N	possibly damaging	Het
Ctss	A	G	3: 95,446,141 (GRCm39)	D87G	probably benign	Het
Cwf19l2	A	T	9: 3,428,777 (GRCm39)	K254N	probably benign	Het
Dnajc10	A	G	2: 80,179,647 (GRCm39)	D727G	probably damaging	Het
Ehmt1	T	C	2: 24,742,746 (GRCm39)	M478V	probably benign	Het
Enam	A	T	5: 88,651,158 (GRCm39)	N889I	probably benign	Het
Exo1	G	T	1: 175,736,003 (GRCm39)	*148L	probably null	Het
Fam133b	G	T	5: 3,609,646 (GRCm39)		probably benign	Het
Foxj2	G	A	6: 122,815,139 (GRCm39)	A392T	probably benign	Het
Gbp4	G	T	5: 105,267,866 (GRCm39)	A460E	possibly damaging	Het
H1f5	G	A	13: 21,964,117 (GRCm39)		probably benign	Het
Has3	A	T	8: 107,605,242 (GRCm39)	I483F	probably benign	Het
Irak2	T	A	6: 113,653,612 (GRCm39)	V260E	probably damaging	Het
Kcnj8	T	C	6: 142,512,199 (GRCm39)		probably null	Het
Lama5	A	G	2: 179,837,760 (GRCm39)	V936A	probably benign	Het
Lmo7	C	T	14: 102,166,769 (GRCm39)		probably benign	Het
Morc3	T	A	16: 93,659,612 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,226,414 (GRCm39)		probably benign	Het
Nkx2-2	T	C	2: 147,027,742 (GRCm39)	Y66C	probably damaging	Het
Oaz1	G	A	10: 80,664,634 (GRCm39)		probably benign	Het
Or2y1f	A	T	11: 49,184,285 (GRCm39)	I46F	probably damaging	Het
Or6c38	G	A	10: 128,929,057 (GRCm39)	A262V	possibly damaging	Het
Or6c65	A	T	10: 129,603,910 (GRCm39)	M182L	probably benign	Het
Pkd2	A	T	5: 104,642,753 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,792,349 (GRCm39)		probably benign	Het
Ralgapa2	C	A	2: 146,302,695 (GRCm39)		probably benign	Het
Rfx7	T	C	9: 72,526,967 (GRCm39)	S1386P	probably damaging	Het
Ric1	T	G	19: 29,577,233 (GRCm39)	W1046G	probably benign	Het
Rrp12	C	A	19: 41,861,436 (GRCm39)	R957L	probably damaging	Het
Scn7a	T	C	2: 66,506,442 (GRCm39)	I1482M	probably damaging	Het
Sema3b	T	C	9: 107,479,262 (GRCm39)	N236S	probably damaging	Het
Skint6	T	A	4: 112,848,441 (GRCm39)		probably null	Het
Slfn5	T	C	11: 82,847,387 (GRCm39)	Y91H	probably benign	Het
Sptbn2	T	A	19: 4,774,261 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,249,046 (GRCm39)	L546P	probably benign	Het
Tas1r3	A	G	4: 155,946,300 (GRCm39)		probably benign	Het
Trim75	A	G	8: 65,436,438 (GRCm39)	V4A	probably benign	Het
Usp19	T	C	9: 108,370,344 (GRCm39)	L56P	probably damaging	Het
Vmn1r181	T	G	7: 23,684,000 (GRCm39)	I155S	possibly damaging	Het
Vmn2r43	G	T	7: 8,258,096 (GRCm39)	D372E	probably benign	Het
Vstm2b	C	A	7: 40,551,945 (GRCm39)	S99*	probably null	Het
Wdr11	A	G	7: 129,226,060 (GRCm39)	D735G	probably damaging	Het
Wee2	T	A	6: 40,438,915 (GRCm39)	M346K	probably benign	Het
Zap70	A	G	1: 36,818,798 (GRCm39)	K371R	possibly damaging	Het
Zfp990	A	T	4: 145,263,680 (GRCm39)	H226L	possibly damaging	Het

Other mutations in Dsg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Dsg3	APN	18	20,672,711 (GRCm39)	missense	probably damaging	1.00
IGL00697:Dsg3	APN	18	20,657,746 (GRCm39)	critical splice donor site	probably null
IGL00966:Dsg3	APN	18	20,656,664 (GRCm39)	missense	probably benign	0.02
IGL01352:Dsg3	APN	18	20,656,753 (GRCm39)	missense	probably benign	0.25
IGL01953:Dsg3	APN	18	20,658,361 (GRCm39)	missense	probably damaging	1.00
IGL02385:Dsg3	APN	18	20,660,771 (GRCm39)	missense	probably damaging	1.00
IGL02622:Dsg3	APN	18	20,662,004 (GRCm39)	splice site	probably benign
IGL02643:Dsg3	APN	18	20,662,012 (GRCm39)	missense	probably benign	0.00
IGL02740:Dsg3	APN	18	20,660,765 (GRCm39)	missense	possibly damaging	0.93
IGL03012:Dsg3	APN	18	20,670,300 (GRCm39)	critical splice acceptor site	probably null
IGL03063:Dsg3	APN	18	20,666,425 (GRCm39)	splice site	probably benign
IGL03098:Dsg3	APN	18	20,643,422 (GRCm39)	utr 5 prime	probably benign
IGL03132:Dsg3	APN	18	20,657,653 (GRCm39)	missense	probably damaging	1.00
IGL03352:Dsg3	APN	18	20,660,689 (GRCm39)	missense	probably benign
P0035:Dsg3	UTSW	18	20,673,026 (GRCm39)	missense	probably benign	0.05
R0039:Dsg3	UTSW	18	20,654,541 (GRCm39)	missense	probably benign	0.36
R0099:Dsg3	UTSW	18	20,673,079 (GRCm39)	missense	probably benign	0.01
R0109:Dsg3	UTSW	18	20,673,191 (GRCm39)	missense	probably damaging	0.96
R0109:Dsg3	UTSW	18	20,673,191 (GRCm39)	missense	probably damaging	0.96
R0143:Dsg3	UTSW	18	20,669,882 (GRCm39)	missense	probably damaging	1.00
R0194:Dsg3	UTSW	18	20,673,199 (GRCm39)	missense	probably damaging	1.00
R0373:Dsg3	UTSW	18	20,672,804 (GRCm39)	missense	probably damaging	1.00
R0517:Dsg3	UTSW	18	20,662,082 (GRCm39)	missense	probably benign	0.06
R0521:Dsg3	UTSW	18	20,660,872 (GRCm39)	missense	possibly damaging	0.53
R1194:Dsg3	UTSW	18	20,658,277 (GRCm39)	missense	probably damaging	0.98
R1551:Dsg3	UTSW	18	20,669,975 (GRCm39)	missense	possibly damaging	0.84
R1762:Dsg3	UTSW	18	20,672,789 (GRCm39)	missense	probably damaging	1.00
R1957:Dsg3	UTSW	18	20,655,162 (GRCm39)	missense	probably damaging	1.00
R2061:Dsg3	UTSW	18	20,660,794 (GRCm39)	nonsense	probably null
R2071:Dsg3	UTSW	18	20,669,882 (GRCm39)	missense	probably damaging	1.00
R2513:Dsg3	UTSW	18	20,656,719 (GRCm39)	missense	possibly damaging	0.48
R2571:Dsg3	UTSW	18	20,673,062 (GRCm39)	missense	probably benign	0.01
R2945:Dsg3	UTSW	18	20,672,992 (GRCm39)	missense	probably benign
R2968:Dsg3	UTSW	18	20,658,282 (GRCm39)	missense	possibly damaging	0.75
R3906:Dsg3	UTSW	18	20,671,556 (GRCm39)	missense	probably damaging	1.00
R4616:Dsg3	UTSW	18	20,664,616 (GRCm39)	missense	probably benign
R4641:Dsg3	UTSW	18	20,653,615 (GRCm39)	missense	probably benign	0.28
R4685:Dsg3	UTSW	18	20,672,793 (GRCm39)	missense	probably benign	0.08
R5690:Dsg3	UTSW	18	20,655,108 (GRCm39)	missense	probably benign	0.01
R5786:Dsg3	UTSW	18	20,654,628 (GRCm39)	missense	possibly damaging	0.46
R5950:Dsg3	UTSW	18	20,671,586 (GRCm39)	missense	probably damaging	1.00
R6131:Dsg3	UTSW	18	20,653,534 (GRCm39)	splice site	probably null
R6131:Dsg3	UTSW	18	20,671,569 (GRCm39)	missense	probably damaging	0.99
R6243:Dsg3	UTSW	18	20,672,781 (GRCm39)	missense	probably damaging	1.00
R6315:Dsg3	UTSW	18	20,657,643 (GRCm39)	missense	probably benign	0.08
R6327:Dsg3	UTSW	18	20,672,927 (GRCm39)	missense	probably benign
R6418:Dsg3	UTSW	18	20,656,817 (GRCm39)	critical splice donor site	probably null
R6464:Dsg3	UTSW	18	20,666,583 (GRCm39)	missense	probably benign	0.00
R6497:Dsg3	UTSW	18	20,670,305 (GRCm39)	missense	probably benign	0.33
R6518:Dsg3	UTSW	18	20,666,479 (GRCm39)	missense	probably benign	0.23
R6551:Dsg3	UTSW	18	20,672,968 (GRCm39)	missense	unknown
R6685:Dsg3	UTSW	18	20,653,672 (GRCm39)	critical splice donor site	probably null
R6952:Dsg3	UTSW	18	20,658,216 (GRCm39)	missense	possibly damaging	0.77
R7357:Dsg3	UTSW	18	20,672,840 (GRCm39)	missense	probably damaging	1.00
R7385:Dsg3	UTSW	18	20,673,254 (GRCm39)	missense	possibly damaging	0.52
R7456:Dsg3	UTSW	18	20,664,420 (GRCm39)	missense	probably benign	0.17
R7506:Dsg3	UTSW	18	20,666,521 (GRCm39)	missense	probably benign	0.31
R7570:Dsg3	UTSW	18	20,660,837 (GRCm39)	missense	possibly damaging	0.95
R7980:Dsg3	UTSW	18	20,664,417 (GRCm39)	missense	probably benign	0.00
R8100:Dsg3	UTSW	18	20,662,028 (GRCm39)	missense	probably benign	0.08
R8147:Dsg3	UTSW	18	20,673,130 (GRCm39)	missense	probably benign
R8242:Dsg3	UTSW	18	20,669,980 (GRCm39)	missense	possibly damaging	0.93
R8415:Dsg3	UTSW	18	20,656,765 (GRCm39)	missense	probably damaging	1.00
R8494:Dsg3	UTSW	18	20,673,271 (GRCm39)	missense	probably benign	0.03
R8930:Dsg3	UTSW	18	20,672,718 (GRCm39)	missense	probably damaging	1.00
R8932:Dsg3	UTSW	18	20,672,718 (GRCm39)	missense	probably damaging	1.00
R8998:Dsg3	UTSW	18	20,666,684 (GRCm39)	missense	probably damaging	1.00
R8999:Dsg3	UTSW	18	20,666,684 (GRCm39)	missense	probably damaging	1.00
R9336:Dsg3	UTSW	18	20,657,742 (GRCm39)	missense	probably benign	0.19
R9498:Dsg3	UTSW	18	20,658,278 (GRCm39)	missense	probably damaging	0.98
R9598:Dsg3	UTSW	18	20,672,789 (GRCm39)	missense	probably damaging	1.00
R9601:Dsg3	UTSW	18	20,666,578 (GRCm39)	missense	probably damaging	1.00
R9748:Dsg3	UTSW	18	20,672,761 (GRCm39)	missense	possibly damaging	0.87
R9794:Dsg3	UTSW	18	20,673,154 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02