Mutagenetix > Incidental Mutations

Incidental Mutation 'R5808:Dsg1b'

448871

Institutional Source

Beutler Lab

Gene Symbol

Dsg1b

Ensembl Gene

ENSMUSG00000061928

Gene Name

desmoglein 1 beta

Synonyms

Dsg5

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20376729-20410196 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20408725 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 763 (D763V)

Ref Sequence

ENSEMBL: ENSMUSP00000076026 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000076737
AA Change: D763V

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

SMART Domains

Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: D763V

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: 98.6%
10x: 97.2%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,450,648	R6W	probably damaging	Het
9130019O22Rik	A	T	7: 127,384,913		probably benign	Het
Ahnak	T	A	19: 9,010,235	V2961E	possibly damaging	Het
Aldh1a7	A	T	19: 20,708,197	Y330N	possibly damaging	Het
Bag6	A	G	17: 35,146,322	Y1041C	probably damaging	Het
Baz1b	T	A	5: 135,221,958	V866E	probably benign	Het
Bmpr2	A	T	1: 59,867,401	Y551F	probably benign	Het
Cage1	A	G	13: 38,022,325		probably benign	Het
Caskin2	G	T	11: 115,801,763	P732Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,517,826		probably null	Het
Ccdc162	A	T	10: 41,655,504	M502K	possibly damaging	Het
Cfap157	T	C	2: 32,780,645	D197G	probably damaging	Het
CN725425	T	A	15: 91,245,644	S237T	probably benign	Het
Defb40	T	C	8: 18,975,079	H37R	probably benign	Het
Dis3l2	A	C	1: 87,049,638	S836R	possibly damaging	Het
Dnah14	T	C	1: 181,741,159	I2818T	possibly damaging	Het
Dpysl2	T	A	14: 66,865,172		probably null	Het
Dsc1	A	T	18: 20,086,829	C761*	probably null	Het
Eif2ak1	C	T	5: 143,883,994	P251L	probably benign	Het
Epha6	A	T	16: 59,682,742	I934K	probably damaging	Het
Fbxo40	T	C	16: 36,970,382	E122G	probably damaging	Het
Filip1	C	T	9: 79,818,701	G879R	possibly damaging	Het
Frem2	A	T	3: 53,652,563	F1508I	probably damaging	Het
Gja1	A	G	10: 56,388,498	N318D	probably benign	Het
Gm11564	T	C	11: 99,815,041	S188G	unknown	Het
Hlcs	A	G	16: 94,262,632	V523A	probably benign	Het
Kif1a	C	A	1: 93,042,698	E1041D	probably damaging	Het
Lamtor1	A	G	7: 101,910,082	Y81C	possibly damaging	Het
Loxl1	A	G	9: 58,294,449	L453S	probably damaging	Het
Mcf2l	A	G	8: 12,993,937	M1V	probably null	Het
Megf6	A	G	4: 154,267,662	Q1208R	probably benign	Het
Morc2a	T	A	11: 3,683,781	I631N	probably benign	Het
Muc6	T	C	7: 141,640,093		probably benign	Het
Mybpc1	T	C	10: 88,570,566	S139G	possibly damaging	Het
Myo18a	T	C	11: 77,829,301	F1017L	probably benign	Het
Nup62	A	C	7: 44,829,992	Q477P	possibly damaging	Het
P2ry13	T	A	3: 59,210,232	I42F	probably benign	Het
Ptprb	G	A	10: 116,339,487	R1129K	probably benign	Het
Rexo4	T	A	2: 26,964,185	K45I	probably damaging	Het
Rnf213	G	A	11: 119,436,295	V1703I	probably benign	Het
Sec23ip	C	A	7: 128,772,184	A710E	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc41a2	T	C	10: 83,313,498	T194A	probably benign	Het
Slc4a10	G	A	2: 62,250,472	A348T	probably damaging	Het
Soat2	G	A	15: 102,154,025		probably null	Het
Srms	T	C	2: 181,208,755	S204G	probably benign	Het
Szt2	G	A	4: 118,372,613	R2774C	unknown	Het
Tcf7l2	T	C	19: 55,908,541	V182A	probably damaging	Het
Tmem167b	C	T	3: 108,560,243	R29H	probably benign	Het
Trappc12	T	A	12: 28,746,864	D223V	probably damaging	Het
Ttc6	T	A	12: 57,617,611	S383R	possibly damaging	Het
Ubr1	C	T	2: 120,961,092	R137H	possibly damaging	Het
Vmn2r24	T	A	6: 123,815,638	C641*	probably null	Het
Vrk3	A	G	7: 44,759,874	D155G	probably damaging	Het
Xxylt1	T	C	16: 31,050,685	Y199C	probably damaging	Het
Zbtb46	A	T	2: 181,423,570	D262E	probably benign	Het
Zcchc9	A	T	13: 91,800,647	S58T	probably benign	Het
Zfyve16	A	T	13: 92,495,055	L1344*	probably null	Het

Other mutations in Dsg1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Dsg1b	APN	18	20396476	missense	probably damaging	1.00
IGL00675:Dsg1b	APN	18	20391918	nonsense	probably null
IGL01071:Dsg1b	APN	18	20409215	missense	probably damaging	1.00
IGL01589:Dsg1b	APN	18	20409594	missense	probably damaging	1.00
IGL01729:Dsg1b	APN	18	20405238	missense	possibly damaging	0.66
IGL01753:Dsg1b	APN	18	20397849	splice site	probably benign
IGL02560:Dsg1b	APN	18	20409178	missense	possibly damaging	0.80
IGL02654:Dsg1b	APN	18	20409262	missense	probably damaging	1.00
IGL02726:Dsg1b	APN	18	20399485	missense	probably benign
IGL03272:Dsg1b	APN	18	20397389	missense	probably benign	0.25
IGL03342:Dsg1b	APN	18	20409460	missense	probably benign	0.09
IGL02835:Dsg1b	UTSW	18	20392014	missense	possibly damaging	0.66
R0080:Dsg1b	UTSW	18	20397367	missense	probably damaging	1.00
R0133:Dsg1b	UTSW	18	20404878	missense	probably damaging	0.96
R0455:Dsg1b	UTSW	18	20396025	missense	probably benign	0.02
R0498:Dsg1b	UTSW	18	20409333	missense	possibly damaging	0.95
R0518:Dsg1b	UTSW	18	20388164	missense	probably benign	0.00
R1418:Dsg1b	UTSW	18	20397430	nonsense	probably null
R1429:Dsg1b	UTSW	18	20390195	missense	probably damaging	1.00
R1450:Dsg1b	UTSW	18	20409184	missense	probably damaging	1.00
R1569:Dsg1b	UTSW	18	20396480	missense	probably damaging	1.00
R1674:Dsg1b	UTSW	18	20399521	missense	probably benign
R1934:Dsg1b	UTSW	18	20395906	missense	probably damaging	1.00
R2004:Dsg1b	UTSW	18	20396475	missense	probably damaging	0.99
R2191:Dsg1b	UTSW	18	20409618	makesense	probably null
R2192:Dsg1b	UTSW	18	20409618	makesense	probably null
R2927:Dsg1b	UTSW	18	20405251	missense	probably benign	0.23
R3777:Dsg1b	UTSW	18	20399587	missense	probably damaging	1.00
R3801:Dsg1b	UTSW	18	20390203	missense	probably damaging	1.00
R4205:Dsg1b	UTSW	18	20408821	missense	probably damaging	1.00
R4718:Dsg1b	UTSW	18	20397929	missense	probably damaging	0.98
R4853:Dsg1b	UTSW	18	20408736	missense	probably benign	0.01
R4853:Dsg1b	UTSW	18	20390132	critical splice acceptor site	probably null
R4981:Dsg1b	UTSW	18	20408868	missense	possibly damaging	0.66
R5125:Dsg1b	UTSW	18	20397503	missense	probably damaging	1.00
R5178:Dsg1b	UTSW	18	20397503	missense	probably damaging	1.00
R5213:Dsg1b	UTSW	18	20395930	missense	probably damaging	1.00
R5450:Dsg1b	UTSW	18	20409064	missense	probably damaging	1.00
R5605:Dsg1b	UTSW	18	20399539	missense	probably benign
R5778:Dsg1b	UTSW	18	20409222	missense	possibly damaging	0.66
R6144:Dsg1b	UTSW	18	20396419	missense	possibly damaging	0.92
R6185:Dsg1b	UTSW	18	20399486	missense	probably benign
R6268:Dsg1b	UTSW	18	20388163	missense	probably benign	0.01
R6291:Dsg1b	UTSW	18	20404791	missense	possibly damaging	0.71
R6342:Dsg1b	UTSW	18	20390243	missense	probably damaging	1.00
R6449:Dsg1b	UTSW	18	20394441	missense	possibly damaging	0.82
R6566:Dsg1b	UTSW	18	20397442	missense	probably damaging	1.00
R6817:Dsg1b	UTSW	18	20394405	missense	probably damaging	1.00
R7235:Dsg1b	UTSW	18	20399423	missense	probably benign	0.01
R7857:Dsg1b	UTSW	18	20396463	missense	probably benign	0.06
R7940:Dsg1b	UTSW	18	20396463	missense	probably benign	0.06
R7990:Dsg1b	UTSW	18	20405210	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CACTGATAAGAAAGCTCATGTGTG -3'
(R):5'- TGGATATCCACTACCCAGGG -3'

Sequencing Primer
(F):5'- AGAAAGCTCATGTGTGGATTATTGTC -3'
(R):5'- ATATCCACTACCCAGGGGCTCTG -3'

Posted On

2016-12-15