Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01148:Dsg1a'

53216

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsg1a

Ensembl Gene

ENSMUSG00000069441

Gene Name

desmoglein 1 alpha

Synonyms

Dsg1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL01148

Quality Score

Status

Chromosome

Chromosomal Location

20443930-20476410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20453982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 29 (V29E)

Ref Sequence

ENSEMBL: ENSMUSP00000076393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077146]

AlphaFold

Q61495

Predicted Effect

probably damaging
Transcript: ENSMUST00000077146
AA Change: V29E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: V29E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	70	155	3.45e-14	SMART
CA	179	267	3.11e-21	SMART
CA	290	384	6.29e-8	SMART
CA	407	485	6.44e-1	SMART
low complexity region	573	584	N/A	INTRINSIC
low complexity region	590	598	N/A	INTRINSIC
Pfam:Cadherin_C	659	781	1.6e-10	PFAM
low complexity region	786	799	N/A	INTRINSIC
internal_repeat_1	823	888	9.56e-6	PROSPERO
internal_repeat_1	908	975	9.56e-6	PROSPERO
low complexity region	983	1004	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. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	T	11: 69,781,729 (GRCm39)	C64*	probably null	Het
Ccng2	G	A	5: 93,418,746 (GRCm39)	D124N	probably damaging	Het
Cttnbp2	G	A	6: 18,382,817 (GRCm39)	P1317L	probably damaging	Het
Exoc6b	T	C	6: 84,885,208 (GRCm39)	K244E	probably benign	Het
Fastkd5	A	G	2: 130,456,605 (GRCm39)	F662L	probably benign	Het
Fbxl18	T	C	5: 142,871,580 (GRCm39)	M488V	probably damaging	Het
Gas2l3	C	T	10: 89,249,366 (GRCm39)	G584D	probably benign	Het
Gm28042	T	C	2: 119,869,519 (GRCm39)	F405L	possibly damaging	Het
Gtf3c2	T	C	5: 31,317,168 (GRCm39)	K635E	probably damaging	Het
H2-Q2	A	G	17: 35,561,654 (GRCm39)	Y48C	probably damaging	Het
Hddc2	T	C	10: 31,192,330 (GRCm39)	I78T	probably damaging	Het
Hspg2	T	A	4: 137,273,969 (GRCm39)	M2708K	probably benign	Het
Ift88	T	C	14: 57,677,189 (GRCm39)	S119P	probably benign	Het
Mta2	T	C	19: 8,925,668 (GRCm39)	C388R	probably damaging	Het
Mymx	G	T	17: 45,912,594 (GRCm39)		probably benign	Het
Naga	A	G	15: 82,214,861 (GRCm39)	Y366H	possibly damaging	Het
Nlrp9a	A	G	7: 26,257,006 (GRCm39)	E208G	probably damaging	Het
Nr4a2	C	T	2: 57,001,983 (GRCm39)	V94M	probably benign	Het
Or4c124	G	T	2: 89,156,368 (GRCm39)	T52K	probably benign	Het
Osbpl8	G	T	10: 111,112,424 (GRCm39)		probably benign	Het
Pitpnb	T	A	5: 111,486,222 (GRCm39)	V42D	probably damaging	Het
Pitrm1	A	G	13: 6,623,141 (GRCm39)	R801G	probably benign	Het
Pthlh	G	A	6: 147,154,073 (GRCm39)	T174M	probably benign	Het
Sco2	T	C	15: 89,255,924 (GRCm39)	I243M	probably benign	Het
Sema5a	G	A	15: 32,681,641 (GRCm39)	V907M	probably benign	Het
Semp2l1	A	G	1: 32,584,735 (GRCm39)	S392P	possibly damaging	Het
Spata31e2	T	C	1: 26,724,253 (GRCm39)	E309G	probably benign	Het
Stac2	T	A	11: 97,934,387 (GRCm39)	K106*	probably null	Het
Tas2r105	T	A	6: 131,663,815 (GRCm39)	R204S	probably damaging	Het
Tgm5	A	G	2: 120,877,156 (GRCm39)		probably null	Het
Trpm1	A	G	7: 63,893,312 (GRCm39)	I939V	probably damaging	Het
Ttll11	T	A	2: 35,674,205 (GRCm39)	N574I	probably damaging	Het
Zfand3	A	T	17: 30,354,374 (GRCm39)	T64S	probably benign	Het
Zfyve26	G	A	12: 79,307,644 (GRCm39)	H312Y	probably benign	Het

Other mutations in Dsg1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Dsg1a	APN	18	20,473,263 (GRCm39)	missense	probably damaging	1.00
IGL01534:Dsg1a	APN	18	20,474,053 (GRCm39)	missense	probably benign	0.06
IGL01566:Dsg1a	APN	18	20,469,840 (GRCm39)	splice site	probably benign
IGL01582:Dsg1a	APN	18	20,461,905 (GRCm39)	missense	probably null	1.00
IGL01913:Dsg1a	APN	18	20,455,293 (GRCm39)	missense	probably damaging	1.00
IGL01926:Dsg1a	APN	18	20,466,641 (GRCm39)	missense	possibly damaging	0.60
IGL02102:Dsg1a	APN	18	20,465,089 (GRCm39)	missense	probably benign	0.01
IGL02900:Dsg1a	APN	18	20,461,713 (GRCm39)	splice site	probably benign
IGL02937:Dsg1a	APN	18	20,464,591 (GRCm39)	missense	possibly damaging	0.93
IGL02962:Dsg1a	APN	18	20,473,381 (GRCm39)	missense	possibly damaging	0.92
IGL03003:Dsg1a	APN	18	20,469,876 (GRCm39)	missense	probably benign	0.43
PIT4687001:Dsg1a	UTSW	18	20,464,755 (GRCm39)	missense	probably benign	0.16
R0126:Dsg1a	UTSW	18	20,473,935 (GRCm39)	missense	probably benign	0.00
R0200:Dsg1a	UTSW	18	20,473,995 (GRCm39)	missense	probably benign	0.00
R0284:Dsg1a	UTSW	18	20,464,684 (GRCm39)	missense	probably damaging	0.98
R0394:Dsg1a	UTSW	18	20,466,807 (GRCm39)	missense	probably damaging	1.00
R0543:Dsg1a	UTSW	18	20,473,920 (GRCm39)	missense	probably damaging	1.00
R0656:Dsg1a	UTSW	18	20,468,949 (GRCm39)	splice site	probably benign
R0733:Dsg1a	UTSW	18	20,471,725 (GRCm39)	missense	probably damaging	0.97
R0750:Dsg1a	UTSW	18	20,473,210 (GRCm39)	missense	probably benign	0.10
R1300:Dsg1a	UTSW	18	20,465,206 (GRCm39)	missense	probably benign	0.19
R1501:Dsg1a	UTSW	18	20,465,076 (GRCm39)	missense	probably damaging	1.00
R1523:Dsg1a	UTSW	18	20,455,374 (GRCm39)	missense	probably damaging	0.99
R1673:Dsg1a	UTSW	18	20,464,561 (GRCm39)	missense	probably damaging	1.00
R1980:Dsg1a	UTSW	18	20,471,707 (GRCm39)	missense	probably damaging	1.00
R2102:Dsg1a	UTSW	18	20,466,830 (GRCm39)	missense	probably damaging	1.00
R2132:Dsg1a	UTSW	18	20,473,854 (GRCm39)	missense	probably damaging	1.00
R2299:Dsg1a	UTSW	18	20,473,207 (GRCm39)	missense	probably damaging	1.00
R2426:Dsg1a	UTSW	18	20,469,861 (GRCm39)	missense	probably damaging	0.96
R3031:Dsg1a	UTSW	18	20,473,549 (GRCm39)	missense	probably damaging	1.00
R4044:Dsg1a	UTSW	18	20,457,087 (GRCm39)	missense	probably damaging	1.00
R4075:Dsg1a	UTSW	18	20,473,127 (GRCm39)	missense	possibly damaging	0.53
R4644:Dsg1a	UTSW	18	20,473,785 (GRCm39)	missense	probably benign	0.04
R4661:Dsg1a	UTSW	18	20,473,590 (GRCm39)	missense	probably damaging	0.99
R4816:Dsg1a	UTSW	18	20,466,779 (GRCm39)	missense	probably benign	0.10
R5221:Dsg1a	UTSW	18	20,457,071 (GRCm39)	missense	possibly damaging	0.64
R5257:Dsg1a	UTSW	18	20,453,988 (GRCm39)	missense	probably damaging	1.00
R5360:Dsg1a	UTSW	18	20,474,011 (GRCm39)	missense	probably damaging	0.96
R5547:Dsg1a	UTSW	18	20,469,097 (GRCm39)	critical splice donor site	probably null
R5702:Dsg1a	UTSW	18	20,469,922 (GRCm39)	critical splice donor site	probably null
R5987:Dsg1a	UTSW	18	20,464,599 (GRCm39)	missense	probably damaging	1.00
R6108:Dsg1a	UTSW	18	20,473,304 (GRCm39)	missense	probably benign	0.19
R6170:Dsg1a	UTSW	18	20,469,043 (GRCm39)	missense	probably damaging	0.99
R7018:Dsg1a	UTSW	18	20,461,795 (GRCm39)	missense	possibly damaging	0.48
R7201:Dsg1a	UTSW	18	20,461,368 (GRCm39)	missense	probably damaging	0.98
R7730:Dsg1a	UTSW	18	20,464,768 (GRCm39)	missense	possibly damaging	0.77
R7814:Dsg1a	UTSW	18	20,471,572 (GRCm39)	splice site	probably null
R8185:Dsg1a	UTSW	18	20,473,669 (GRCm39)	missense	probably damaging	1.00
R8297:Dsg1a	UTSW	18	20,465,090 (GRCm39)	missense	probably benign	0.02
R8377:Dsg1a	UTSW	18	20,466,831 (GRCm39)	missense	probably damaging	1.00
R8409:Dsg1a	UTSW	18	20,473,208 (GRCm39)	missense	probably damaging	1.00
R8775:Dsg1a	UTSW	18	20,473,564 (GRCm39)	missense	probably damaging	0.98
R8775-TAIL:Dsg1a	UTSW	18	20,473,564 (GRCm39)	missense	probably damaging	0.98
R8818:Dsg1a	UTSW	18	20,473,599 (GRCm39)	missense	possibly damaging	0.87
R8821:Dsg1a	UTSW	18	20,453,365 (GRCm39)	missense	probably damaging	0.96
R8831:Dsg1a	UTSW	18	20,453,365 (GRCm39)	missense	probably damaging	0.96
R9030:Dsg1a	UTSW	18	20,473,549 (GRCm39)	missense	probably damaging	1.00
R9205:Dsg1a	UTSW	18	20,473,228 (GRCm39)	missense	probably damaging	1.00
R9239:Dsg1a	UTSW	18	20,473,750 (GRCm39)	missense	probably damaging	1.00
R9410:Dsg1a	UTSW	18	20,464,590 (GRCm39)	missense	possibly damaging	0.50

Posted On

2013-06-21