Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02560:Dsg1b'

298179

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 #

IGL02560

Quality Score

Status

Chromosome

Chromosomal Location

20509786-20543253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20542235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 914 (V914A)

Ref Sequence

ENSEMBL: ENSMUSP00000076026 (fasta)

Gene Model

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

AlphaFold

Q7TSF1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076737
AA Change: V914A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: V914A

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	C	T	10: 88,814,603 (GRCm39)	W660*	probably null	Het
Atp9b	T	C	18: 80,805,413 (GRCm39)	D715G	probably benign	Het
Catsper1	T	C	19: 5,386,216 (GRCm39)	S150P	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cldn19	G	A	4: 119,112,921 (GRCm39)	W51*	probably null	Het
Ddx31	T	C	2: 28,765,838 (GRCm39)	I512T	probably damaging	Het
Dsc2	G	T	18: 20,178,596 (GRCm39)	D269E	probably damaging	Het
Etl4	A	G	2: 20,748,529 (GRCm39)	E420G	probably damaging	Het
Foxa2	A	G	2: 147,885,951 (GRCm39)	L113P	probably benign	Het
Gm6034	T	G	17: 36,367,356 (GRCm39)		probably benign	Het
Gtf3c4	A	T	2: 28,724,279 (GRCm39)	Y343*	probably null	Het
Hhip	A	T	8: 80,713,638 (GRCm39)	Y563N	probably damaging	Het
Ighg2c	A	T	12: 113,251,504 (GRCm39)	C208S	unknown	Het
Lipo2	A	G	19: 33,708,348 (GRCm39)	L222P	possibly damaging	Het
Myb	A	T	10: 21,028,347 (GRCm39)	L172Q	probably damaging	Het
Nipal3	A	T	4: 135,207,015 (GRCm39)	Y60N	probably damaging	Het
Npas2	A	T	1: 39,373,042 (GRCm39)		probably benign	Het
Or5h26	G	T	16: 58,987,891 (GRCm39)	S205*	probably null	Het
Or8k16	T	A	2: 85,519,863 (GRCm39)	V30D	possibly damaging	Het
Or8k39	A	T	2: 86,563,578 (GRCm39)	I126N	probably damaging	Het
Pdxdc1	T	C	16: 13,657,596 (GRCm39)	D532G	probably benign	Het
Pwp2	T	C	10: 78,014,899 (GRCm39)	S362G	probably damaging	Het
Senp5	A	G	16: 31,808,210 (GRCm39)	V348A	probably benign	Het
Slc25a37	T	C	14: 69,482,741 (GRCm39)	T187A	probably benign	Het
Svil	A	G	18: 5,049,379 (GRCm39)	I219V	probably benign	Het
Tcf4	A	G	18: 69,776,093 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,071,779 (GRCm39)	V2442A	probably benign	Het
Tomm70a	T	C	16: 56,970,212 (GRCm39)	L530S	probably benign	Het
Ulbp3	A	G	10: 3,075,866 (GRCm39)		noncoding transcript	Het
Wscd2	A	T	5: 113,699,045 (GRCm39)	D200V	probably benign	Het
Zfp952	C	T	17: 33,221,793 (GRCm39)	Q53*	probably null	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
IGL01589:Dsg1b	APN	18	20,542,651 (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
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

2015-04-16