Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01071:Dsg1b'

53148

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 #

IGL01071

Quality Score

Status

Chromosome

Chromosomal Location

20509786-20543253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20542272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 926 (S926R)

Ref Sequence

ENSEMBL: ENSMUSP00000076026 (fasta)

Gene Model

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

AlphaFold

Q7TSF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000076737
AA Change: S926R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: S926R

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	A	C	6: 65,930,137 (GRCm39)	D124A	probably damaging	Het
Arhgef17	C	A	7: 100,534,907 (GRCm39)	V1137L	probably damaging	Het
Birc6	A	G	17: 74,873,127 (GRCm39)	D462G	possibly damaging	Het
Birc6	A	T	17: 74,938,696 (GRCm39)	N2701Y	probably damaging	Het
Cadps	C	T	14: 12,509,091 (GRCm38)		probably null	Het
Camk2a	T	C	18: 61,113,228 (GRCm39)		probably null	Het
Capn10	T	A	1: 92,872,797 (GRCm39)	W508R	probably damaging	Het
Cntn3	A	T	6: 102,397,212 (GRCm39)		probably null	Het
Crisp4	A	G	1: 18,207,231 (GRCm39)	V19A	probably benign	Het
Depdc1b	A	T	13: 108,493,975 (GRCm39)	Y121F	probably benign	Het
Eml6	A	G	11: 29,800,816 (GRCm39)		probably null	Het
Gm26938	A	C	5: 139,794,228 (GRCm39)	V117G	possibly damaging	Het
Keg1	T	A	19: 12,696,364 (GRCm39)	Y183N	probably damaging	Het
Mpi	A	T	9: 57,457,875 (GRCm39)	I109N	probably damaging	Het
Or12j3	C	T	7: 139,953,098 (GRCm39)	A142T	probably benign	Het
Or13a20	C	T	7: 140,232,827 (GRCm39)	H312Y	possibly damaging	Het
Or14a259	T	C	7: 86,012,768 (GRCm39)	K259R	possibly damaging	Het
Or4c112	A	G	2: 88,853,519 (GRCm39)	V276A	probably benign	Het
Pcdhb20	A	G	18: 37,637,738 (GRCm39)	E88G	possibly damaging	Het
Pde6b	G	A	5: 108,567,581 (GRCm39)	W290*	probably null	Het
Phf20	T	A	2: 156,136,008 (GRCm39)		probably null	Het
Pkd1l1	A	T	11: 8,798,921 (GRCm39)	H1830Q	probably benign	Het
Proc	T	C	18: 32,256,770 (GRCm39)	D299G	probably damaging	Het
Psmd14	A	G	2: 61,630,407 (GRCm39)	T306A	probably benign	Het
Rab32	G	A	10: 10,433,591 (GRCm39)	A81V	probably damaging	Het
Samd14	G	A	11: 94,912,294 (GRCm39)		probably benign	Het
Sh3rf1	T	A	8: 61,678,993 (GRCm39)	C12S	probably damaging	Het
Sipa1l3	C	T	7: 29,023,645 (GRCm39)	V663M	possibly damaging	Het
Slc2a5	A	G	4: 150,205,190 (GRCm39)		probably benign	Het
Tasor	T	A	14: 27,164,579 (GRCm39)		probably null	Het
Tbkbp1	T	C	11: 97,040,388 (GRCm39)	I9V	probably damaging	Het
Trip10	C	A	17: 57,561,332 (GRCm39)	R196S	possibly damaging	Het
Vav1	T	C	17: 57,606,176 (GRCm39)	Y267H	probably benign	Het
Wdr1	T	C	5: 38,687,410 (GRCm39)	K207R	probably benign	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
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
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

2013-06-21