Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02970:Dsc3'

365776

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsc3

Ensembl Gene

ENSMUSG00000059898

Gene Name

desmocollin 3

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02970

Quality Score

Status

Chromosome

Chromosomal Location

19960930-20002351 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19968260 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 692 (W692L)

Ref Sequence

ENSEMBL: ENSMUSP00000153261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115848] [ENSMUST00000225110]

Predicted Effect

probably damaging
Transcript: ENSMUST00000115848
AA Change: W692L

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

SMART Domains

Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: W692L

Domain	Start	End	E-Value	Type
Cadherin_pro	31	113	9.08e-41	SMART
CA	156	241	4.99e-11	SMART
CA	265	353	7.79e-22	SMART
CA	376	471	2.66e-6	SMART
CA	494	576	4.58e-19	SMART
CA	595	677	3.02e-2	SMART
transmembrane domain	692	714	N/A	INTRINSIC
Pfam:Cadherin_C	778	895	1.1e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000225110
AA Change: W692L

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

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. Together with desmogleins, the encoded protein forms the transmembrane core of desmosomes, a multiprotein complex involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. Mice lacking the encoded protein exhibit a pre-implantation lethal phenotype. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice die before implantation. Heterozygous mice do not display any gross abnormalities and have normal epidermal development and keratinocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,187,589	G5S	probably damaging	Het
A2ml1	A	T	6: 128,569,979	F396I	probably damaging	Het
BC051019	T	A	7: 109,716,055	N331I	probably benign	Het
Crocc	G	A	4: 141,030,246	S912L	possibly damaging	Het
Dcaf4	A	G	12: 83,529,215	D46G	probably damaging	Het
Dido1	C	T	2: 180,689,415	R80Q	probably damaging	Het
Dnase2b	A	G	3: 146,582,506	V278A	probably damaging	Het
Drosha	C	T	15: 12,913,956	L1106F	probably damaging	Het
F2	T	A	2: 91,625,551	Y579F	possibly damaging	Het
Fam126b	T	C	1: 58,539,617	E258G	probably damaging	Het
Fam43a	C	T	16: 30,601,104	R169C	probably damaging	Het
Gm9772	A	G	17: 22,006,559	F120S	probably damaging	Het
Gsdma3	T	C	11: 98,632,993	S251P	probably benign	Het
Itgam	G	A	7: 128,086,043	E443K	probably benign	Het
Kif18a	T	C	2: 109,287,888	V16A	probably damaging	Het
Lrrn3	T	G	12: 41,452,360	S653R	probably benign	Het
Map1b	A	T	13: 99,430,734	Y1826*	probably null	Het
Mbnl1	T	C	3: 60,613,423	F139S	probably damaging	Het
Micu3	T	C	8: 40,382,130	Y509H	possibly damaging	Het
Ncmap	T	C	4: 135,377,018	T17A	probably damaging	Het
Oas1h	T	A	5: 120,861,635	M61K	possibly damaging	Het
Otog	T	A	7: 46,295,867	W2183R	probably benign	Het
Pcdh15	T	C	10: 74,290,962		probably benign	Het
Plekho1	C	T	3: 95,990,902	V150I	probably damaging	Het
Ppargc1b	A	G	18: 61,298,766	S1004P	probably damaging	Het
Prf1	T	C	10: 61,300,178	S78P	probably benign	Het
Prss12	A	G	3: 123,482,762	S347G	probably benign	Het
Rai1	T	C	11: 60,185,733	S208P	probably damaging	Het
Sgms1	A	G	19: 32,159,765	Y134H	probably damaging	Het
Sult2a4	A	G	7: 13,909,906		probably benign	Het
T	C	T	17: 8,435,385	A134V	probably damaging	Het
Thoc5	A	G	11: 4,904,201	T187A	probably damaging	Het
Ticrr	A	G	7: 79,695,171	S1595G	probably benign	Het
Tiprl	A	G	1: 165,236,746	S30P	probably damaging	Het
Ttl	T	C	2: 129,076,070	S151P	probably damaging	Het
Ttn	T	A	2: 76,752,990	T22520S	probably damaging	Het
Usp54	G	A	14: 20,577,472	S420L	probably damaging	Het
Vmn1r62	T	A	7: 5,675,568	Y83N	possibly damaging	Het

Other mutations in Dsc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Dsc3	APN	18	19985631	missense	probably null	1.00
IGL01978:Dsc3	APN	18	19974196	missense	possibly damaging	0.79
IGL02101:Dsc3	APN	18	20001906	missense	probably benign	0.01
IGL02165:Dsc3	APN	18	19983652	missense	probably benign	0.06
IGL02543:Dsc3	APN	18	19965828	missense	probably benign	0.11
IGL03097:Dsc3	UTSW	18	19974048	missense	probably benign	0.30
R0133:Dsc3	UTSW	18	19971582	missense	probably damaging	0.96
R0304:Dsc3	UTSW	18	19981241	missense	probably damaging	1.00
R0360:Dsc3	UTSW	18	19971582	missense	possibly damaging	0.79
R0673:Dsc3	UTSW	18	19989590	missense	probably damaging	1.00
R0826:Dsc3	UTSW	18	19981172	missense	probably damaging	0.99
R1120:Dsc3	UTSW	18	19986977	missense	probably benign	0.05
R1491:Dsc3	UTSW	18	19987034	missense	probably damaging	0.99
R1667:Dsc3	UTSW	18	19991560	missense	possibly damaging	0.58
R1688:Dsc3	UTSW	18	19966227	missense	probably damaging	1.00
R1792:Dsc3	UTSW	18	19986998	missense	probably damaging	1.00
R1858:Dsc3	UTSW	18	19965716	missense	probably damaging	0.97
R1965:Dsc3	UTSW	18	19980672	missense	probably damaging	1.00
R1988:Dsc3	UTSW	18	19965846	missense	possibly damaging	0.86
R2049:Dsc3	UTSW	18	19989680	missense	possibly damaging	0.65
R2127:Dsc3	UTSW	18	19968354	missense	probably benign	0.00
R2143:Dsc3	UTSW	18	19980686	missense	possibly damaging	0.81
R2144:Dsc3	UTSW	18	19980686	missense	possibly damaging	0.81
R2148:Dsc3	UTSW	18	19965638	missense	probably damaging	0.99
R3038:Dsc3	UTSW	18	19991560	missense	possibly damaging	0.58
R3872:Dsc3	UTSW	18	19971508	missense	probably damaging	0.99
R4229:Dsc3	UTSW	18	19965821	missense	probably damaging	1.00
R4298:Dsc3	UTSW	18	19980754	missense	possibly damaging	0.62
R4491:Dsc3	UTSW	18	20001865	missense	probably benign	0.30
R4590:Dsc3	UTSW	18	19989695	missense	probably damaging	1.00
R4615:Dsc3	UTSW	18	19971488	missense	possibly damaging	0.67
R5316:Dsc3	UTSW	18	19963541	missense	possibly damaging	0.67
R5758:Dsc3	UTSW	18	19989534	missense	probably damaging	1.00
R5796:Dsc3	UTSW	18	19971501	missense	probably benign	0.01
R5916:Dsc3	UTSW	18	19987020	missense	probably damaging	1.00
R6022:Dsc3	UTSW	18	19966338	missense	probably damaging	0.97
R6233:Dsc3	UTSW	18	19965795	missense	possibly damaging	0.77
R6351:Dsc3	UTSW	18	19966291	missense	probably benign	0.05
R6971:Dsc3	UTSW	18	19966218	critical splice donor site	probably null
R7261:Dsc3	UTSW	18	19980757	nonsense	probably null
R7442:Dsc3	UTSW	18	19981156	missense	probably damaging	1.00
R7795:Dsc3	UTSW	18	19966231	missense	probably damaging	1.00
R8051:Dsc3	UTSW	18	19981213	missense	probably damaging	1.00
X0061:Dsc3	UTSW	18	19989627	missense	probably damaging	1.00
Z1177:Dsc3	UTSW	18	19966315	missense	probably benign	0.00

Posted On

2015-12-18