Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02102:Dsg1a'

279797

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsg1a

Ensembl Gene

ENSMUSG00000069441

Gene Name

desmoglein 1 alpha

Synonyms

Dsg1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL02102

Quality Score

Status

Chromosome

Chromosomal Location

20310811-20343350 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20332032 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 427 (N427D)

Ref Sequence

ENSEMBL: ENSMUSP00000076393 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000077146
AA Change: N427D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: N427D

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,777,439	T1338A	probably benign	Het
Adcy3	G	A	12: 4,134,699	C125Y	probably damaging	Het
Aoc1	A	T	6: 48,905,962	K257N	probably damaging	Het
Apob	T	C	12: 7,989,407	V497A	possibly damaging	Het
Atp8b5	T	A	4: 43,364,167	V684D	probably benign	Het
AW551984	A	G	9: 39,589,691	W763R	probably damaging	Het
Blm	G	A	7: 80,469,756	T1026M	probably damaging	Het
Cd160	A	G	3: 96,805,570	I126T	possibly damaging	Het
Cdk14	T	C	5: 5,380,083	K15E	probably benign	Het
Cnot6l	T	C	5: 96,091,659	K261R	probably damaging	Het
Cyp3a13	T	G	5: 137,911,603	T153P	probably benign	Het
Ddx24	A	G	12: 103,408,484		probably benign	Het
Dido1	G	A	2: 180,662,247	T1288I	possibly damaging	Het
Dnajc13	A	G	9: 104,229,009	V322A	possibly damaging	Het
Dnajc25	T	A	4: 59,017,693	Y117*	probably null	Het
Gabrq	T	G	X: 72,827,545		probably null	Het
Glce	A	G	9: 62,070,601		probably benign	Het
Gm10477	T	C	X: 56,525,401	L45P	probably damaging	Het
Htt	T	A	5: 34,891,481		probably benign	Het
Ift140	A	G	17: 25,033,130	E317G	probably benign	Het
Jak1	A	G	4: 101,159,086	M827T	probably benign	Het
Kalrn	A	G	16: 34,220,222	V932A	probably damaging	Het
Mdm2	A	C	10: 117,692,717	S227R	possibly damaging	Het
Olfr1216	A	G	2: 89,013,126		probably benign	Het
Olfr153	T	C	2: 87,532,461	F143L	probably benign	Het
Olfr305	T	C	7: 86,363,866	Y157C	probably benign	Het
Olfr995	A	G	2: 85,438,267	V297A	probably damaging	Het
Olfr996	G	A	2: 85,579,673	V145I	probably damaging	Het
Pdilt	T	G	7: 119,486,950	E514A	probably benign	Het
Pepd	A	G	7: 34,945,603	D153G	probably damaging	Het
Ptgis	A	T	2: 167,225,447	V70E	probably damaging	Het
Rnf112	T	C	11: 61,452,015	K262E	probably benign	Het
Setd5	G	T	6: 113,150,985	G1300*	probably null	Het
Snx15	A	G	19: 6,122,074	L113P	possibly damaging	Het
Sptbn1	T	C	11: 30,137,427	D1004G	probably damaging	Het
Ston2	A	C	12: 91,639,724	*896G	probably null	Het
Suco	A	G	1: 161,827,705	S1073P	probably damaging	Het
Susd1	A	C	4: 59,369,636	D344E	possibly damaging	Het
Trnt1	G	T	6: 106,778,112		probably null	Het
Ttll12	A	G	15: 83,582,063	F399S	probably damaging	Het
Vmn1r124	C	T	7: 21,260,542	V26I	probably benign	Het
Vmn1r52	T	A	6: 90,179,207	N164K	possibly damaging	Het
Vmn1r56	A	T	7: 5,196,336	M94K	possibly damaging	Het
Vmn1r80	T	C	7: 12,193,691	F243L	probably damaging	Het
Zdhhc8	G	A	16: 18,225,199	S379F	possibly damaging	Het

Other mutations in Dsg1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Dsg1a	APN	18	20340206	missense	probably damaging	1.00
IGL01148:Dsg1a	APN	18	20320925	missense	probably damaging	0.97
IGL01534:Dsg1a	APN	18	20340996	missense	probably benign	0.06
IGL01566:Dsg1a	APN	18	20336783	splice site	probably benign
IGL01582:Dsg1a	APN	18	20328848	missense	probably null	1.00
IGL01913:Dsg1a	APN	18	20322236	missense	probably damaging	1.00
IGL01926:Dsg1a	APN	18	20333584	missense	possibly damaging	0.60
IGL02900:Dsg1a	APN	18	20328656	splice site	probably benign
IGL02937:Dsg1a	APN	18	20331534	missense	possibly damaging	0.93
IGL02962:Dsg1a	APN	18	20340324	missense	possibly damaging	0.92
IGL03003:Dsg1a	APN	18	20336819	missense	probably benign	0.43
PIT4687001:Dsg1a	UTSW	18	20331698	missense	probably benign	0.16
R0126:Dsg1a	UTSW	18	20340878	missense	probably benign	0.00
R0200:Dsg1a	UTSW	18	20340938	missense	probably benign	0.00
R0284:Dsg1a	UTSW	18	20331627	missense	probably damaging	0.98
R0394:Dsg1a	UTSW	18	20333750	missense	probably damaging	1.00
R0543:Dsg1a	UTSW	18	20340863	missense	probably damaging	1.00
R0656:Dsg1a	UTSW	18	20335892	splice site	probably benign
R0733:Dsg1a	UTSW	18	20338668	missense	probably damaging	0.97
R0750:Dsg1a	UTSW	18	20340153	missense	probably benign	0.10
R1300:Dsg1a	UTSW	18	20332149	missense	probably benign	0.19
R1501:Dsg1a	UTSW	18	20332019	missense	probably damaging	1.00
R1523:Dsg1a	UTSW	18	20322317	missense	probably damaging	0.99
R1673:Dsg1a	UTSW	18	20331504	missense	probably damaging	1.00
R1980:Dsg1a	UTSW	18	20338650	missense	probably damaging	1.00
R2102:Dsg1a	UTSW	18	20333773	missense	probably damaging	1.00
R2132:Dsg1a	UTSW	18	20340797	missense	probably damaging	1.00
R2299:Dsg1a	UTSW	18	20340150	missense	probably damaging	1.00
R2426:Dsg1a	UTSW	18	20336804	missense	probably damaging	0.96
R3031:Dsg1a	UTSW	18	20340492	missense	probably damaging	1.00
R4044:Dsg1a	UTSW	18	20324030	missense	probably damaging	1.00
R4075:Dsg1a	UTSW	18	20340070	missense	possibly damaging	0.53
R4644:Dsg1a	UTSW	18	20340728	missense	probably benign	0.04
R4661:Dsg1a	UTSW	18	20340533	missense	probably damaging	0.99
R4816:Dsg1a	UTSW	18	20333722	missense	probably benign	0.10
R5221:Dsg1a	UTSW	18	20324014	missense	possibly damaging	0.64
R5257:Dsg1a	UTSW	18	20320931	missense	probably damaging	1.00
R5360:Dsg1a	UTSW	18	20340954	missense	probably damaging	0.96
R5547:Dsg1a	UTSW	18	20336040	critical splice donor site	probably null
R5702:Dsg1a	UTSW	18	20336865	critical splice donor site	probably null
R5987:Dsg1a	UTSW	18	20331542	missense	probably damaging	1.00
R6108:Dsg1a	UTSW	18	20340247	missense	probably benign	0.19
R6170:Dsg1a	UTSW	18	20335986	missense	probably damaging	0.99
R7018:Dsg1a	UTSW	18	20328738	missense	possibly damaging	0.48
R7201:Dsg1a	UTSW	18	20328311	missense	probably damaging	0.98
R7730:Dsg1a	UTSW	18	20331711	missense	possibly damaging	0.77
R7814:Dsg1a	UTSW	18	20338515	splice site	probably null
R8185:Dsg1a	UTSW	18	20340612	missense	probably damaging	1.00
R8297:Dsg1a	UTSW	18	20332033	missense	probably benign	0.02
R8377:Dsg1a	UTSW	18	20333774	missense	probably damaging	1.00
R8409:Dsg1a	UTSW	18	20340151	missense	probably damaging	1.00
R8775:Dsg1a	UTSW	18	20340507	missense	probably damaging	0.98
R8775-TAIL:Dsg1a	UTSW	18	20340507	missense	probably damaging	0.98

Posted On

2015-04-16