Mutagenetix > Incidental Mutation

Incidental Mutation 'R0518:Dsg1b'

48354

Institutional Source

Beutler Lab

Gene Symbol

Dsg1b

Ensembl Gene

ENSMUSG00000061928

Gene Name

desmoglein 1 beta

Synonyms

Dsg5

MMRRC Submission

038711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20509786-20543253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20521221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 26 (Q26L)

Ref Sequence

ENSEMBL: ENSMUSP00000076026 (fasta)

Gene Model

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

AlphaFold

Q7TSF1

Predicted Effect

probably benign
Transcript: ENSMUST00000076737
AA Change: Q26L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: Q26L

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

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,181,112 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acsm5	T	C	7: 119,135,023 (GRCm39)	V327A	possibly damaging	Het
Agt	C	A	8: 125,283,839 (GRCm39)	E427*	probably null	Het
Akr1c14	T	C	13: 4,131,016 (GRCm39)	L236S	probably damaging	Het
Ammecr1l	C	T	18: 31,904,954 (GRCm39)	S65L	probably benign	Het
Ankrd33b	T	C	15: 31,367,432 (GRCm39)	D36G	probably damaging	Het
Ano8	A	T	8: 71,931,902 (GRCm39)	C766S	probably benign	Het
Arhgef16	G	T	4: 154,375,491 (GRCm39)	P168T	probably damaging	Het
Asic1	C	T	15: 99,596,700 (GRCm39)	R499C	probably damaging	Het
Atpsckmt	T	G	15: 31,606,103 (GRCm39)	S20R	probably benign	Het
Bank1	C	T	3: 135,919,703 (GRCm39)	C364Y	probably damaging	Het
Bmerb1	T	A	16: 13,804,676 (GRCm39)	S8T	possibly damaging	Het
Cacna1s	C	A	1: 136,004,597 (GRCm39)	D132E	probably benign	Het
Capn5	C	T	7: 97,782,089 (GRCm39)	R217Q	probably damaging	Het
Clasrp	A	G	7: 19,322,528 (GRCm39)	I284T	probably benign	Het
Coa3	T	A	11: 101,169,716 (GRCm39)	K13M	probably damaging	Het
Col13a1	A	T	10: 61,698,525 (GRCm39)	M512K	unknown	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crhbp	C	A	13: 95,580,403 (GRCm39)		probably null	Het
Cryba2	T	C	1: 74,929,284 (GRCm39)	Y153C	possibly damaging	Het
Cryzl2	T	C	1: 157,292,000 (GRCm39)	V93A	probably damaging	Het
Ctsl	G	A	13: 64,513,032 (GRCm39)	L297F	possibly damaging	Het
Cyp2r1	T	G	7: 114,152,135 (GRCm39)	H274P	probably benign	Het
Ddx4	A	T	13: 112,761,313 (GRCm39)		probably null	Het
Dnai4	A	C	4: 102,921,727 (GRCm39)	Y464*	probably null	Het
Dnd1	A	G	18: 36,897,096 (GRCm39)	V350A	possibly damaging	Het
Fam20b	C	A	1: 156,515,026 (GRCm39)	V280F	possibly damaging	Het
Foxb2	G	T	19: 16,849,820 (GRCm39)	C395*	probably null	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,547 (GRCm39)		noncoding transcript	Het
Hdac7	G	A	15: 97,704,380 (GRCm39)	Q497*	probably null	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Hsd3b7	A	G	7: 127,402,251 (GRCm39)	T330A	probably benign	Het
Il20ra	A	T	10: 19,635,388 (GRCm39)	Q543L	probably damaging	Het
Itk	T	A	11: 46,251,115 (GRCm39)	D163V	probably damaging	Het
Kcnu1	T	G	8: 26,400,916 (GRCm39)	L688R	probably damaging	Het
Kng1	G	A	16: 22,879,232 (GRCm39)	A45T	possibly damaging	Het
Kti12	T	A	4: 108,705,776 (GRCm39)	V230E	possibly damaging	Het
Lhfpl7	T	A	5: 113,383,873 (GRCm39)	L97*	probably null	Het
Mgat5	T	A	1: 127,312,584 (GRCm39)	I241N	probably damaging	Het
Mkln1	A	G	6: 31,445,067 (GRCm39)	N321S	probably benign	Het
Mllt10	T	G	2: 18,076,017 (GRCm39)		probably null	Het
Ms4a1	C	A	19: 11,236,043 (GRCm39)		probably null	Het
Ngly1	C	T	14: 16,290,774 (GRCm38)	Q419*	probably null	Het
Nipsnap3b	T	A	4: 53,021,343 (GRCm39)	F243I	probably damaging	Het
Ogfod1	T	A	8: 94,781,876 (GRCm39)		probably null	Het
Or10a2	T	A	7: 106,673,965 (GRCm39)	L310Q	possibly damaging	Het
Or2y11	C	T	11: 49,443,291 (GRCm39)	T239M	probably damaging	Het
Or51v8	T	A	7: 103,319,696 (GRCm39)	I181F	possibly damaging	Het
Or8c20	A	C	9: 38,260,499 (GRCm39)	N40T	probably damaging	Het
P2ry14	T	A	3: 59,022,625 (GRCm39)	E287D	probably damaging	Het
Pank4	A	T	4: 155,061,082 (GRCm39)	R510S	possibly damaging	Het
Pcsk6	T	A	7: 65,629,915 (GRCm39)	V347E	possibly damaging	Het
Peg3	T	C	7: 6,714,427 (GRCm39)	E265G	probably damaging	Het
Pik3c2b	C	A	1: 133,033,730 (GRCm39)	P1578H	probably damaging	Het
Pkd1	A	G	17: 24,814,193 (GRCm39)	S4188G	probably benign	Het
Ppp1r26	A	G	2: 28,342,314 (GRCm39)	D648G	probably damaging	Het
Ptprs	A	G	17: 56,726,621 (GRCm39)		probably null	Het
Rab24	A	T	13: 55,468,738 (GRCm39)		probably null	Het
Rap1gap2	A	T	11: 74,332,592 (GRCm39)	M71K	probably damaging	Het
Rergl	T	G	6: 139,473,524 (GRCm39)	K42T	probably damaging	Het
Rigi	C	T	4: 40,216,354 (GRCm39)		probably null	Het
Septin5	T	C	16: 18,443,647 (GRCm39)	T92A	probably benign	Het
Ski	A	G	4: 155,243,743 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,412,192 (GRCm39)	S414P	probably benign	Het
Slc25a36	A	T	9: 96,979,228 (GRCm39)	I71N	probably damaging	Het
Syne2	A	C	12: 76,155,636 (GRCm39)		probably null	Het
Tdrd5	C	A	1: 156,090,511 (GRCm39)	W845L	probably damaging	Het
Tfb2m	T	C	1: 179,365,389 (GRCm39)	I192V	possibly damaging	Het
Tll1	T	G	8: 64,551,505 (GRCm39)	D292A	probably damaging	Het
Trank1	A	C	9: 111,162,876 (GRCm39)	D45A	probably damaging	Het
Trim17	T	A	11: 58,859,320 (GRCm39)	V178E	probably damaging	Het
Trim9	A	T	12: 70,393,359 (GRCm39)	L195Q	probably damaging	Het
Ttc27	A	T	17: 75,163,544 (GRCm39)	R717S	possibly damaging	Het
Upk2	G	T	9: 44,365,418 (GRCm39)	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880 (GRCm39)	C2319S	probably benign	Het
Vmn1r4	G	T	6: 56,933,883 (GRCm39)	C129F	probably benign	Het
Vmn2r100	A	T	17: 19,742,178 (GRCm39)	D184V	probably damaging	Het
Xpnpep3	T	G	15: 81,311,693 (GRCm39)	I133S	possibly damaging	Het
Zfp628	A	T	7: 4,922,939 (GRCm39)	Q387L	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAACTCTGCTCAATAGCACATGCTTT -3'
(R):5'- CCAAGCCAACACTCCTTTGGTCTG -3'

Sequencing Primer
(F):5'- GCTCAATAGCACATGCTTTAATGTAG -3'
(R):5'- ccccctccccctctctc -3'

Posted On

2013-06-12