Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00087:Dsg1b'

754

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

20376729-20410196 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20396476 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 326 (T326I)

Ref Sequence

ENSEMBL: ENSMUSP00000076026 (fasta)

Gene Model

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

AlphaFold

Q7TSF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000076737
AA Change: T326I

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

SMART Domains

Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: T326I

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Actr2	C	A	11: 20,094,370	V79L	probably benign	Het
Ankrd36	A	C	11: 5,620,131	Y533S	probably benign	Het
Btnl1	A	T	17: 34,381,117	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406	I684N	probably benign	Het
Ccdc129	T	A	6: 55,968,037	L581Q	possibly damaging	Het
Cdk17	T	A	10: 93,226,771	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219	S131I	unknown	Het
Dab1	A	T	4: 104,678,753	I120F	possibly damaging	Het
Dab1	G	A	4: 104,678,810	V139M	probably damaging	Het
Dnah2	A	G	11: 69,492,672	V1142A	possibly damaging	Het
Eif3k	A	C	7: 28,974,676		probably benign	Het
Fam76b	T	C	9: 13,836,884	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,469,792	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838		probably benign	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Itpr2	A	G	6: 146,397,012	I317T	probably damaging	Het
Kcnn2	A	C	18: 45,592,236	R266S	probably damaging	Het
Kntc1	T	A	5: 123,790,159	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812		probably benign	Het
Prl4a1	G	A	13: 28,021,460	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506	L1114P	probably benign	Het
Slc44a4	A	G	17: 34,930,240		probably benign	Het
Sorl1	A	C	9: 41,974,094	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941		probably benign	Het
Srsf6	G	T	2: 162,931,707	V13F	probably damaging	Het
Stab1	G	T	14: 31,161,357	T336N	probably benign	Het
Strbp	A	G	2: 37,586,504		probably benign	Het
Tbc1d4	A	G	14: 101,608,112	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171	F7S	probably benign	Het
Zan	C	T	5: 137,387,820		probably null	Het
Zfp819	T	A	7: 43,611,979		probably benign	Het

Other mutations in Dsg1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
R9478:Dsg1b	UTSW	18	20397951	missense

Posted On

2011-07-12