Mutagenetix > Incidental Mutation

Incidental Mutation 'R5213:Dsg1b'

403306

Institutional Source

Beutler Lab

Gene Symbol

Dsg1b

Ensembl Gene

ENSMUSG00000061928

Gene Name

desmoglein 1 beta

Synonyms

Dsg5

MMRRC Submission

042854-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5213 (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 20528987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 241 (D241V)

Ref Sequence

ENSEMBL: ENSMUSP00000076026 (fasta)

Gene Model

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

AlphaFold

Q7TSF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000076737
AA Change: D241V

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

SMART Domains

Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: D241V

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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
Adamtsl1	C	A	4: 86,303,865 (GRCm39)	H1342N	possibly damaging	Het
Adcy2	G	T	13: 68,768,942 (GRCm39)	T1062K	possibly damaging	Het
Aqr	T	C	2: 113,943,808 (GRCm39)	N1110S	probably damaging	Het
Atp10a	C	T	7: 58,423,731 (GRCm39)	T232I	probably damaging	Het
Atp5pb	T	A	3: 105,863,227 (GRCm39)	K70*	probably null	Het
Atp8b4	A	C	2: 126,231,329 (GRCm39)		probably null	Het
Atraid	A	C	5: 31,209,552 (GRCm39)	Q72P	probably damaging	Het
Atxn2	G	T	5: 121,952,543 (GRCm39)		probably null	Het
Best3	A	T	10: 116,860,377 (GRCm39)	T546S	probably benign	Het
Brd3	T	C	2: 27,353,960 (GRCm39)	K51E	possibly damaging	Het
Brip1	A	G	11: 86,034,147 (GRCm39)	S525P	possibly damaging	Het
Cenpf	A	G	1: 189,387,177 (GRCm39)	I1701T	probably benign	Het
Chrna9	A	T	5: 66,128,427 (GRCm39)	K208*	probably null	Het
Clec2l	T	A	6: 38,657,127 (GRCm39)	C197S	probably damaging	Het
Crp	A	G	1: 172,526,086 (GRCm39)	H57R	probably benign	Het
Cyp27b1	C	A	10: 126,887,964 (GRCm39)	T492N	probably damaging	Het
Dock4	A	T	12: 40,726,741 (GRCm39)	I340F	probably damaging	Het
Epg5	G	T	18: 78,058,049 (GRCm39)	V1865L	probably benign	Het
Erap1	A	G	13: 74,819,614 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,144,658 (GRCm39)	C4072Y	probably benign	Het
Fat4	T	A	3: 39,034,340 (GRCm39)	I2664N	possibly damaging	Het
Gabrp	A	G	11: 33,517,211 (GRCm39)		probably null	Het
Glis2	G	T	16: 4,431,946 (GRCm39)		probably benign	Het
Gm17654	A	G	14: 43,816,559 (GRCm39)	S15P	probably damaging	Het
Gm21836	A	G	9: 124,252,736 (GRCm39)	V14A	unknown	Het
Gon7	G	A	12: 102,720,380 (GRCm39)	T84I	possibly damaging	Het
Greb1	G	T	12: 16,764,791 (GRCm39)	Y447*	probably null	Het
Grip2	A	T	6: 91,756,812 (GRCm39)	D546E	probably benign	Het
Hectd1	A	G	12: 51,849,316 (GRCm39)		probably null	Het
Il36a	T	A	2: 24,114,486 (GRCm39)	F120L	probably damaging	Het
Itga4	T	C	2: 79,150,920 (GRCm39)	V842A	probably benign	Het
Khsrp	G	A	17: 57,331,366 (GRCm39)	A404V	probably benign	Het
Map3k11	T	C	19: 5,740,669 (GRCm39)	V132A	probably damaging	Het
Mcub	A	C	3: 129,710,646 (GRCm39)	F262C	probably benign	Het
Msantd5f6	G	T	4: 73,319,571 (GRCm39)	Q302K	probably damaging	Het
Mysm1	A	T	4: 94,836,614 (GRCm39)	V732E	probably damaging	Het
Npr2	T	A	4: 43,640,673 (GRCm39)		probably null	Het
Or10d5	A	C	9: 39,861,389 (GRCm39)	I226S	probably damaging	Het
Or12d12	T	C	17: 37,610,942 (GRCm39)	I124V	probably damaging	Het
Or5k1b	T	C	16: 58,580,984 (GRCm39)	Y185C	probably damaging	Het
Oxgr1	G	T	14: 120,259,552 (GRCm39)	Y218*	probably null	Het
Paf1	A	G	7: 28,095,397 (GRCm39)	Q161R	possibly damaging	Het
Pck1	A	T	2: 172,997,878 (GRCm39)	K316*	probably null	Het
Plac8	T	A	5: 100,704,371 (GRCm39)	M109L	probably benign	Het
Plagl2	A	T	2: 153,074,239 (GRCm39)	C221S	probably damaging	Het
Polg	T	C	7: 79,103,846 (GRCm39)	D870G	probably damaging	Het
Polr2k	T	A	15: 36,175,143 (GRCm39)	M1K	probably null	Het
Prdm9	T	C	17: 15,775,416 (GRCm39)	H276R	probably damaging	Het
Resf1	C	A	6: 149,227,551 (GRCm39)	P199Q	possibly damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Serpina3i	A	G	12: 104,231,914 (GRCm39)	I184V	probably benign	Het
Shank3	A	G	15: 89,417,481 (GRCm39)	E26G	possibly damaging	Het
Skil	T	C	3: 31,171,600 (GRCm39)	S575P	probably damaging	Het
Slc13a1	A	G	6: 24,108,158 (GRCm39)	L306P	probably damaging	Het
Slc20a1	G	T	2: 129,042,429 (GRCm39)	W166L	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Snrnp200	G	T	2: 127,073,661 (GRCm39)	G1353V	probably damaging	Het
Spata6l	A	T	19: 28,940,964 (GRCm39)	V50E	probably benign	Het
Sphkap	A	G	1: 83,258,224 (GRCm39)	I173T	probably damaging	Het
Stab2	A	T	10: 86,743,061 (GRCm39)	F1183I	probably damaging	Het
Stard9	A	G	2: 120,529,707 (GRCm39)	D1988G	probably damaging	Het
Tank	T	A	2: 61,480,292 (GRCm39)	I276N	probably benign	Het
Tcaf3	A	G	6: 42,568,401 (GRCm39)	W652R	probably damaging	Het
Tgm2	G	A	2: 157,984,980 (GRCm39)	T42I	possibly damaging	Het
Tnni2	G	T	7: 141,997,039 (GRCm39)		probably null	Het
Tns1	A	G	1: 73,992,771 (GRCm39)	S9P	probably damaging	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Trdv2-1	T	C	14: 54,183,863 (GRCm39)	S32P	probably benign	Het
Trim24	T	C	6: 37,934,010 (GRCm39)	I651T	probably damaging	Het
Trpm3	T	G	19: 22,674,818 (GRCm39)	Y72*	probably null	Het
Ube2o	G	A	11: 116,432,285 (GRCm39)	P894S	possibly damaging	Het
Ubr4	C	T	4: 139,129,877 (GRCm39)	R666*	probably null	Het
Ugt1a8	T	A	1: 88,015,845 (GRCm39)	L86*	probably null	Het
Usp32	T	A	11: 84,913,085 (GRCm39)	N941I	probably damaging	Het
Utrn	C	T	10: 12,512,504 (GRCm39)	V2322M	probably damaging	Het
Vmn1r184	A	T	7: 25,967,136 (GRCm39)	Y294F	probably damaging	Het
Vmn2r108	T	C	17: 20,691,755 (GRCm39)	N256S	probably benign	Het
Wdr7	T	C	18: 63,888,197 (GRCm39)	S557P	probably damaging	Het
Xrra1	C	A	7: 99,547,690 (GRCm39)	P293Q	possibly damaging	Het
Zc3h18	A	G	8: 123,110,388 (GRCm39)	D79G	probably damaging	Het
Zfp74	A	T	7: 29,634,668 (GRCm39)	Y347N	probably damaging	Het
Zfp740	T	C	15: 102,121,082 (GRCm39)	C169R	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
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	20,523,189 (GRCm39)	critical splice acceptor site	probably null
R4853:Dsg1b	UTSW	18	20,541,793 (GRCm39)	missense	probably benign	0.01
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
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'- TGGAAATGGATGCCACAAAACC -3'
(R):5'- TGGTGTTGTAGATAGCAAATGC -3'

Sequencing Primer
(F):5'- CCCATACTGAGTGATGTGAGATC -3'
(R):5'- GTGCACCTGAACACTGAATGAGTTC -3'

Posted On

2016-07-22