Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03063:Dsg3'

409567

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 #

IGL03063

Quality Score

Status

Chromosome

Chromosomal Location

20643331-20674367 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 20666425 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 benign
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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,665,856 (GRCm39)	V255I	probably benign	Het
Arfgef2	T	C	2: 166,701,702 (GRCm39)		probably benign	Het
Bpifb2	A	T	2: 153,731,044 (GRCm39)	Q205L	probably damaging	Het
Ccdc30	C	T	4: 119,206,964 (GRCm39)	R386Q	possibly damaging	Het
Cdk5rap2	T	A	4: 70,273,114 (GRCm39)		probably null	Het
Comtd1	A	G	14: 21,897,735 (GRCm39)		probably null	Het
Dao	T	C	5: 114,159,076 (GRCm39)	C261R	probably damaging	Het
Dner	A	G	1: 84,563,059 (GRCm39)	V187A	possibly damaging	Het
Eif3j2	A	G	18: 43,610,444 (GRCm39)	L123P	possibly damaging	Het
Esf1	G	A	2: 139,996,706 (GRCm39)		probably benign	Het
Exo5	G	A	4: 120,778,830 (GRCm39)	T345I	possibly damaging	Het
Fancl	A	T	11: 26,337,299 (GRCm39)	I29F	probably damaging	Het
Gadl1	C	T	9: 115,795,335 (GRCm39)	H313Y	probably damaging	Het
Gm17190	G	A	13: 96,219,270 (GRCm39)		probably benign	Het
Gtf3c1	G	T	7: 125,245,675 (GRCm39)	T1580N	possibly damaging	Het
Gtf3c6	T	A	10: 40,127,155 (GRCm39)	I66L	probably benign	Het
Hhla1	A	G	15: 65,813,639 (GRCm39)	I231T	probably damaging	Het
Hk2	A	G	6: 82,716,630 (GRCm39)	Y273H	probably damaging	Het
Hk2	A	G	6: 82,726,213 (GRCm39)	I83T	probably benign	Het
Ifit1	T	C	19: 34,625,404 (GRCm39)	V180A	possibly damaging	Het
Igkv9-129	A	T	6: 67,817,172 (GRCm39)	D92V	probably damaging	Het
Lrrc1	A	G	9: 77,406,551 (GRCm39)	F36S	probably damaging	Het
Man1b1	A	G	2: 25,224,416 (GRCm39)	E102G	possibly damaging	Het
Myh8	A	G	11: 67,179,031 (GRCm39)	S475G	probably benign	Het
Or52s1	T	A	7: 102,861,841 (GRCm39)	V247D	probably damaging	Het
Otud4	T	A	8: 80,390,419 (GRCm39)	M343K	probably benign	Het
Peg10	A	T	6: 4,756,647 (GRCm39)		probably benign	Het
Plet1	T	A	9: 50,415,722 (GRCm39)	N197K	probably benign	Het
Ppp1r12a	C	T	10: 108,097,115 (GRCm39)	R243C	probably damaging	Het
Serpinb10	A	T	1: 107,469,957 (GRCm39)	K146N	possibly damaging	Het
Sis	A	G	3: 72,835,630 (GRCm39)	F911L	probably benign	Het
Spon1	G	A	7: 113,632,260 (GRCm39)	V528M	possibly damaging	Het
Tdrd9	T	C	12: 112,010,733 (GRCm39)	V1100A	probably benign	Het
Tmtc3	T	C	10: 100,283,468 (GRCm39)	M696V	probably benign	Het
Triobp	A	G	15: 78,875,084 (GRCm39)	E122G	probably damaging	Het
Wt1	G	A	2: 105,000,368 (GRCm39)		probably null	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
IGL03026:Dsg3	APN	18	20,670,029 (GRCm39)	splice site	probably null
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