Mutagenetix > Incidental Mutations

Incidental Mutation 'R3801:Dsg1b'

273019

Institutional Source

Beutler Lab

Gene Symbol

Dsg1b

Ensembl Gene

ENSMUSG00000061928

Gene Name

desmoglein 1 beta

Synonyms

Dsg5

MMRRC Submission

040760-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20376729-20410196 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20390203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 96 (P96S)

Ref Sequence

ENSEMBL: ENSMUSP00000076026 (fasta)

Gene Model

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

AlphaFold

Q7TSF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000076737
AA Change: P96S

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

SMART Domains

Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: P96S

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: 98.6%
10x: 97.2%
20x: 95.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	probably damaging	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
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
R5808:Dsg1b	UTSW	18	20408725	missense	probably damaging	1.00
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
R8209:Dsg1b	UTSW	18	20408890	missense	probably benign	0.36
R8283:Dsg1b	UTSW	18	20391906	missense	probably benign	0.01
R8328:Dsg1b	UTSW	18	20376950	missense	probably benign	0.00
R8746:Dsg1b	UTSW	18	20395999	missense	probably damaging	1.00
R8962:Dsg1b	UTSW	18	20409259	missense	probably damaging	1.00
R9095:Dsg1b	UTSW	18	20390225	missense	probably damaging	1.00
R9319:Dsg1b	UTSW	18	20397947	nonsense	probably null
R9386:Dsg1b	UTSW	18	20392014	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ACACTGACCATGTATCTACTGTTTC -3'
(R):5'- GGCCCAGTATTGAGACTCTTG -3'

Sequencing Primer
(F):5'- CTCCTAGGTGATATCATAGACAGC -3'
(R):5'- GGCCCAGTATTGAGACTCTTGAAATC -3'

Posted On

2015-03-25