Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01064:Dsg1a'

53146

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: 0.084) question?

Stock #

IGL01064

Quality Score

Status

Chromosome

Chromosomal Location

20443930-20476410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20473263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 779 (I779F)

Ref Sequence

ENSEMBL: ENSMUSP00000076393 (fasta)

Gene Model

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

AlphaFold

Q61495

Predicted Effect

probably damaging
Transcript: ENSMUST00000077146
AA Change: I779F

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

SMART Domains

Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: I779F

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,433,855 (GRCm39)	T4137S	probably benign	Het
Abcb1a	T	C	5: 8,782,388 (GRCm39)	Y924H	possibly damaging	Het
Ash1l	T	G	3: 88,979,791 (GRCm39)	C2772G	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cpne6	T	C	14: 55,750,187 (GRCm39)	F106S	probably damaging	Het
Cysltr1	A	T	X: 105,622,342 (GRCm39)	I48N	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,779 (GRCm39)	L262H	probably damaging	Het
Gart	G	A	16: 91,419,895 (GRCm39)	R871C	probably damaging	Het
Get4	C	T	5: 139,238,277 (GRCm39)	R20C	probably damaging	Het
Gm13030	G	A	4: 138,600,869 (GRCm39)		probably benign	Het
Gm17654	A	T	14: 43,816,455 (GRCm39)	H49Q	unknown	Het
Gpnmb	A	G	6: 49,032,593 (GRCm39)	I506V	probably benign	Het
Ist1	T	C	8: 110,409,243 (GRCm39)	I86V	probably damaging	Het
Kcnip1	C	T	11: 33,583,192 (GRCm39)	D198N	probably damaging	Het
Kif5c	A	G	2: 49,584,828 (GRCm39)	I184V	possibly damaging	Het
Mink1	A	T	11: 70,494,307 (GRCm39)	M236L	probably benign	Het
Muc5ac	A	T	7: 141,361,210 (GRCm39)	N1507I	probably benign	Het
Nrxn2	G	T	19: 6,567,083 (GRCm39)	E1326D	probably damaging	Het
Or10ak8	A	T	4: 118,774,091 (GRCm39)	M191K	possibly damaging	Het
Or51q1	A	T	7: 103,628,999 (GRCm39)	Y200F	probably benign	Het
Or5b3	T	C	19: 13,388,590 (GRCm39)	I219T	probably benign	Het
Patj	T	C	4: 98,385,210 (GRCm39)	S326P	possibly damaging	Het
Pdha2	T	C	3: 140,916,776 (GRCm39)	H244R	possibly damaging	Het
Pgap4	C	T	4: 49,586,860 (GRCm39)	V103M	possibly damaging	Het
Pkhd1	C	T	1: 20,604,754 (GRCm39)		probably benign	Het
Ptk7	A	T	17: 46,884,492 (GRCm39)	L746*	probably null	Het
Rad54b	G	A	4: 11,604,866 (GRCm39)	G438D	probably damaging	Het
Rbm27	T	C	18: 42,452,879 (GRCm39)	V536A	possibly damaging	Het
Rundc3b	T	A	5: 8,619,553 (GRCm39)	M135L	probably damaging	Het
Sorcs2	T	C	5: 36,222,696 (GRCm39)	Y353C	probably damaging	Het
Srcap	T	C	7: 127,159,064 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,771,834 (GRCm39)	H66R	probably benign	Het
Tlr7	T	A	X: 166,091,207 (GRCm39)	E93V	probably damaging	Het
Tmem156	A	G	5: 65,237,327 (GRCm39)	L76S	probably damaging	Het
Tomm70a	T	C	16: 56,972,975 (GRCm39)	F571S	probably damaging	Het
Trmt10b	A	G	4: 45,314,347 (GRCm39)	Y261C	possibly damaging	Het

Other mutations in Dsg1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01148:Dsg1a	APN	18	20,453,982 (GRCm39)	missense	probably damaging	0.97
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