Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01589:Dsg1b'

91521

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsg1b

Ensembl Gene

ENSMUSG00000061928

Gene Name

desmoglein 1 beta

Synonyms

Dsg5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01589

Quality Score

Status

Chromosome

Chromosomal Location

20509786-20543253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20542651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1053 (Y1053H)

Ref Sequence

ENSEMBL: ENSMUSP00000076026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076737]

AlphaFold

Q7TSF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000076737
AA Change: Y1053H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: Y1053H

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	491	3.92e-1	SMART
low complexity region	523	541	N/A	INTRINSIC
low complexity region	576	587	N/A	INTRINSIC
low complexity region	593	601	N/A	INTRINSIC
Pfam:Cadherin_C	662	784	1.6e-10	PFAM
low complexity region	789	802	N/A	INTRINSIC
low complexity region	884	896	N/A	INTRINSIC
low complexity region	984	1006	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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,046,003 (GRCm39)	F307S	probably damaging	Het
Abcc6	A	T	7: 45,652,096 (GRCm39)		probably benign	Het
Adamts12	T	A	15: 11,311,323 (GRCm39)	D1193E	probably benign	Het
Akap6	T	A	12: 53,186,447 (GRCm39)	L1287H	probably damaging	Het
Ascl3	A	G	7: 109,327,245 (GRCm39)	S25P	probably benign	Het
Brd2	A	G	17: 34,336,016 (GRCm39)	S66P	probably damaging	Het
Cacna1i	C	A	15: 80,271,960 (GRCm39)		probably benign	Het
Cdc5l	T	C	17: 45,715,602 (GRCm39)	Y670C	probably damaging	Het
Clybl	T	A	14: 122,608,834 (GRCm39)	I142N	probably damaging	Het
Cyp2c66	T	C	19: 39,172,379 (GRCm39)		probably null	Het
Dck	C	T	5: 88,922,095 (GRCm39)		probably benign	Het
Gm9912	T	C	3: 148,890,986 (GRCm39)	D49G	unknown	Het
Gpr107	T	C	2: 31,057,163 (GRCm39)		probably benign	Het
Hsd3b7	T	C	7: 127,402,036 (GRCm39)	F227S	probably damaging	Het
Lrrtm2	T	A	18: 35,345,851 (GRCm39)	N484Y	probably damaging	Het
Muc19	A	T	15: 91,754,699 (GRCm39)		noncoding transcript	Het
Nodal	G	A	10: 61,254,176 (GRCm39)	R33Q	probably benign	Het
Or1a1	T	C	11: 74,086,587 (GRCm39)	L86P	probably damaging	Het
Plcb4	A	G	2: 135,809,038 (GRCm39)	I569V	probably benign	Het
Plekhg1	T	C	10: 3,913,631 (GRCm39)	Y1118H	probably benign	Het
Polr2a	T	G	11: 69,632,020 (GRCm39)	E1015D	probably benign	Het
Recql5	A	G	11: 115,785,495 (GRCm39)	F667S	probably damaging	Het
Scube1	T	C	15: 83,496,754 (GRCm39)	Y749C	probably damaging	Het
Serpinb1c	C	A	13: 33,070,155 (GRCm39)	V136F	probably damaging	Het
Slain2	T	C	5: 73,098,789 (GRCm39)		probably benign	Het
Slc10a7	T	C	8: 79,456,369 (GRCm39)	S296P	probably damaging	Het
Sspo	C	T	6: 48,428,112 (GRCm39)	R320W	probably damaging	Het
Usp16	G	A	16: 87,276,071 (GRCm39)	A469T	probably benign	Het
Vmn2r102	A	T	17: 19,899,066 (GRCm39)	L469F	probably benign	Het
Zfp772	A	G	7: 7,208,523 (GRCm39)	F107S	possibly damaging	Het

Other mutations in Dsg1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Dsg1b	APN	18	20,529,533 (GRCm39)	missense	probably damaging	1.00
IGL00675:Dsg1b	APN	18	20,524,975 (GRCm39)	nonsense	probably null
IGL01071:Dsg1b	APN	18	20,542,272 (GRCm39)	missense	probably damaging	1.00
IGL01729:Dsg1b	APN	18	20,538,295 (GRCm39)	missense	possibly damaging	0.66
IGL01753:Dsg1b	APN	18	20,530,906 (GRCm39)	splice site	probably benign
IGL02560:Dsg1b	APN	18	20,542,235 (GRCm39)	missense	possibly damaging	0.80
IGL02654:Dsg1b	APN	18	20,542,319 (GRCm39)	missense	probably damaging	1.00
IGL02726:Dsg1b	APN	18	20,532,542 (GRCm39)	missense	probably benign
IGL03272:Dsg1b	APN	18	20,530,446 (GRCm39)	missense	probably benign	0.25
IGL03342:Dsg1b	APN	18	20,542,517 (GRCm39)	missense	probably benign	0.09
IGL02835:Dsg1b	UTSW	18	20,525,071 (GRCm39)	missense	possibly damaging	0.66
R0080:Dsg1b	UTSW	18	20,530,424 (GRCm39)	missense	probably damaging	1.00
R0133:Dsg1b	UTSW	18	20,537,935 (GRCm39)	missense	probably damaging	0.96
R0455:Dsg1b	UTSW	18	20,529,082 (GRCm39)	missense	probably benign	0.02
R0498:Dsg1b	UTSW	18	20,542,390 (GRCm39)	missense	possibly damaging	0.95
R0518:Dsg1b	UTSW	18	20,521,221 (GRCm39)	missense	probably benign	0.00
R1418:Dsg1b	UTSW	18	20,530,487 (GRCm39)	nonsense	probably null
R1429:Dsg1b	UTSW	18	20,523,252 (GRCm39)	missense	probably damaging	1.00
R1450:Dsg1b	UTSW	18	20,542,241 (GRCm39)	missense	probably damaging	1.00
R1569:Dsg1b	UTSW	18	20,529,537 (GRCm39)	missense	probably damaging	1.00
R1674:Dsg1b	UTSW	18	20,532,578 (GRCm39)	missense	probably benign
R1934:Dsg1b	UTSW	18	20,528,963 (GRCm39)	missense	probably damaging	1.00
R2004:Dsg1b	UTSW	18	20,529,532 (GRCm39)	missense	probably damaging	0.99
R2191:Dsg1b	UTSW	18	20,542,675 (GRCm39)	makesense	probably null
R2192:Dsg1b	UTSW	18	20,542,675 (GRCm39)	makesense	probably null
R2927:Dsg1b	UTSW	18	20,538,308 (GRCm39)	missense	probably benign	0.23
R3777:Dsg1b	UTSW	18	20,532,644 (GRCm39)	missense	probably damaging	1.00
R3801:Dsg1b	UTSW	18	20,523,260 (GRCm39)	missense	probably damaging	1.00
R4205:Dsg1b	UTSW	18	20,541,878 (GRCm39)	missense	probably damaging	1.00
R4718:Dsg1b	UTSW	18	20,530,986 (GRCm39)	missense	probably damaging	0.98
R4853:Dsg1b	UTSW	18	20,541,793 (GRCm39)	missense	probably benign	0.01
R4853:Dsg1b	UTSW	18	20,523,189 (GRCm39)	critical splice acceptor site	probably null
R4981:Dsg1b	UTSW	18	20,541,925 (GRCm39)	missense	possibly damaging	0.66
R5125:Dsg1b	UTSW	18	20,530,560 (GRCm39)	missense	probably damaging	1.00
R5178:Dsg1b	UTSW	18	20,530,560 (GRCm39)	missense	probably damaging	1.00
R5213:Dsg1b	UTSW	18	20,528,987 (GRCm39)	missense	probably damaging	1.00
R5450:Dsg1b	UTSW	18	20,542,121 (GRCm39)	missense	probably damaging	1.00
R5605:Dsg1b	UTSW	18	20,532,596 (GRCm39)	missense	probably benign
R5778:Dsg1b	UTSW	18	20,542,279 (GRCm39)	missense	possibly damaging	0.66
R5808:Dsg1b	UTSW	18	20,541,782 (GRCm39)	missense	probably damaging	1.00
R6144:Dsg1b	UTSW	18	20,529,476 (GRCm39)	missense	possibly damaging	0.92
R6185:Dsg1b	UTSW	18	20,532,543 (GRCm39)	missense	probably benign
R6268:Dsg1b	UTSW	18	20,521,220 (GRCm39)	missense	probably benign	0.01
R6291:Dsg1b	UTSW	18	20,537,848 (GRCm39)	missense	possibly damaging	0.71
R6342:Dsg1b	UTSW	18	20,523,300 (GRCm39)	missense	probably damaging	1.00
R6449:Dsg1b	UTSW	18	20,527,498 (GRCm39)	missense	possibly damaging	0.82
R6566:Dsg1b	UTSW	18	20,530,499 (GRCm39)	missense	probably damaging	1.00
R6817:Dsg1b	UTSW	18	20,527,462 (GRCm39)	missense	probably damaging	1.00
R7235:Dsg1b	UTSW	18	20,532,480 (GRCm39)	missense	probably benign	0.01
R7857:Dsg1b	UTSW	18	20,529,520 (GRCm39)	missense	probably benign	0.06
R8209:Dsg1b	UTSW	18	20,541,947 (GRCm39)	missense	probably benign	0.36
R8283:Dsg1b	UTSW	18	20,524,963 (GRCm39)	missense	probably benign	0.01
R8328:Dsg1b	UTSW	18	20,510,007 (GRCm39)	missense	probably benign	0.00
R8746:Dsg1b	UTSW	18	20,529,056 (GRCm39)	missense	probably damaging	1.00
R8962:Dsg1b	UTSW	18	20,542,316 (GRCm39)	missense	probably damaging	1.00
R9095:Dsg1b	UTSW	18	20,523,282 (GRCm39)	missense	probably damaging	1.00
R9319:Dsg1b	UTSW	18	20,531,004 (GRCm39)	nonsense	probably null
R9386:Dsg1b	UTSW	18	20,525,071 (GRCm39)	missense	possibly damaging	0.66
R9478:Dsg1b	UTSW	18	20,531,008 (GRCm39)	missense
R9695:Dsg1b	UTSW	18	20,532,389 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-12-09