Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02101:Dsc3'

279761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsc3

Ensembl Gene

ENSMUSG00000059898

Gene Name

desmocollin 3

Synonyms

5430426I24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02101

Quality Score

Status

Chromosome

Chromosomal Location

20093987-20135408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20134963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 7 (R7Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115848] [ENSMUST00000223946] [ENSMUST00000225110]

AlphaFold

P55850

Predicted Effect

probably benign
Transcript: ENSMUST00000115848
AA Change: R7Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: R7Q

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 benign
Transcript: ENSMUST00000223946
AA Change: R7Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000225110
AA Change: R7Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd163	T	A	6: 124,284,246 (GRCm39)	C139*	probably null	Het
Ces2g	A	G	8: 105,691,769 (GRCm39)		probably null	Het
Ckap5	T	C	2: 91,402,885 (GRCm39)		probably benign	Het
Cmtm7	T	C	9: 114,592,336 (GRCm39)	H87R	probably damaging	Het
Dennd3	A	G	15: 73,399,794 (GRCm39)	D220G	possibly damaging	Het
Dpp10	T	C	1: 123,339,555 (GRCm39)	Y324C	probably damaging	Het
Ezh1	T	C	11: 101,086,392 (GRCm39)	K598E	possibly damaging	Het
Ighv7-3	A	G	12: 114,117,045 (GRCm39)	L39P	probably damaging	Het
Il1rap	T	A	16: 26,442,932 (GRCm39)	S9R	possibly damaging	Het
Mrgpra3	A	G	7: 47,239,300 (GRCm39)	C209R	probably damaging	Het
Oc90	G	T	15: 65,769,638 (GRCm39)	P73Q	probably damaging	Het
Or2m12	T	C	16: 19,105,363 (GRCm39)	I43M	probably benign	Het
Or3a1b	G	A	11: 74,012,571 (GRCm39)	W152*	probably null	Het
Pccb	A	G	9: 100,869,894 (GRCm39)	F346L	possibly damaging	Het
Pdxdc1	A	G	16: 13,687,720 (GRCm39)	I225T	probably damaging	Het
Pold3	A	T	7: 99,749,703 (GRCm39)	M154K	probably damaging	Het
Polr1a	T	G	6: 71,927,786 (GRCm39)	C846G	probably benign	Het
Ppip5k1	C	A	2: 121,162,089 (GRCm39)	R978L	possibly damaging	Het
Ptpn4	A	G	1: 119,615,408 (GRCm39)	V582A	probably damaging	Het
Sez6l	G	T	5: 112,620,612 (GRCm39)	Q323K	probably damaging	Het
Slc27a5	A	T	7: 12,727,270 (GRCm39)	I384N	possibly damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc7a2	T	C	8: 41,355,631 (GRCm39)	F227L	probably benign	Het
Smad4	C	A	18: 73,791,723 (GRCm39)	A273S	probably benign	Het
Spata17	T	C	1: 186,849,657 (GRCm39)	I84V	probably benign	Het
Sphkap	T	C	1: 83,268,708 (GRCm39)	T95A	probably damaging	Het
Tie1	T	C	4: 118,329,995 (GRCm39)	D1076G	probably benign	Het

Other mutations in Dsc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Dsc3	APN	18	20,118,688 (GRCm39)	missense	probably null	1.00
IGL01978:Dsc3	APN	18	20,107,253 (GRCm39)	missense	possibly damaging	0.79
IGL02165:Dsc3	APN	18	20,116,709 (GRCm39)	missense	probably benign	0.06
IGL02543:Dsc3	APN	18	20,098,885 (GRCm39)	missense	probably benign	0.11
IGL02970:Dsc3	APN	18	20,101,317 (GRCm39)	missense	probably damaging	1.00
IGL03097:Dsc3	UTSW	18	20,107,105 (GRCm39)	missense	probably benign	0.30
R0133:Dsc3	UTSW	18	20,104,639 (GRCm39)	missense	probably damaging	0.96
R0304:Dsc3	UTSW	18	20,114,298 (GRCm39)	missense	probably damaging	1.00
R0360:Dsc3	UTSW	18	20,104,639 (GRCm39)	missense	possibly damaging	0.79
R0673:Dsc3	UTSW	18	20,122,647 (GRCm39)	missense	probably damaging	1.00
R0826:Dsc3	UTSW	18	20,114,229 (GRCm39)	missense	probably damaging	0.99
R1120:Dsc3	UTSW	18	20,120,034 (GRCm39)	missense	probably benign	0.05
R1491:Dsc3	UTSW	18	20,120,091 (GRCm39)	missense	probably damaging	0.99
R1667:Dsc3	UTSW	18	20,124,617 (GRCm39)	missense	possibly damaging	0.58
R1688:Dsc3	UTSW	18	20,099,284 (GRCm39)	missense	probably damaging	1.00
R1792:Dsc3	UTSW	18	20,120,055 (GRCm39)	missense	probably damaging	1.00
R1858:Dsc3	UTSW	18	20,098,773 (GRCm39)	missense	probably damaging	0.97
R1965:Dsc3	UTSW	18	20,113,729 (GRCm39)	missense	probably damaging	1.00
R1988:Dsc3	UTSW	18	20,098,903 (GRCm39)	missense	possibly damaging	0.86
R2049:Dsc3	UTSW	18	20,122,737 (GRCm39)	missense	possibly damaging	0.65
R2127:Dsc3	UTSW	18	20,101,411 (GRCm39)	missense	probably benign	0.00
R2143:Dsc3	UTSW	18	20,113,743 (GRCm39)	missense	possibly damaging	0.81
R2144:Dsc3	UTSW	18	20,113,743 (GRCm39)	missense	possibly damaging	0.81
R2148:Dsc3	UTSW	18	20,098,695 (GRCm39)	missense	probably damaging	0.99
R3038:Dsc3	UTSW	18	20,124,617 (GRCm39)	missense	possibly damaging	0.58
R3872:Dsc3	UTSW	18	20,104,565 (GRCm39)	missense	probably damaging	0.99
R4229:Dsc3	UTSW	18	20,098,878 (GRCm39)	missense	probably damaging	1.00
R4298:Dsc3	UTSW	18	20,113,811 (GRCm39)	missense	possibly damaging	0.62
R4491:Dsc3	UTSW	18	20,134,922 (GRCm39)	missense	probably benign	0.30
R4590:Dsc3	UTSW	18	20,122,752 (GRCm39)	missense	probably damaging	1.00
R4615:Dsc3	UTSW	18	20,104,545 (GRCm39)	missense	possibly damaging	0.67
R5316:Dsc3	UTSW	18	20,096,598 (GRCm39)	missense	possibly damaging	0.67
R5758:Dsc3	UTSW	18	20,122,591 (GRCm39)	missense	probably damaging	1.00
R5796:Dsc3	UTSW	18	20,104,558 (GRCm39)	missense	probably benign	0.01
R5916:Dsc3	UTSW	18	20,120,077 (GRCm39)	missense	probably damaging	1.00
R6022:Dsc3	UTSW	18	20,099,395 (GRCm39)	missense	probably damaging	0.97
R6233:Dsc3	UTSW	18	20,098,852 (GRCm39)	missense	possibly damaging	0.77
R6351:Dsc3	UTSW	18	20,099,348 (GRCm39)	missense	probably benign	0.05
R6971:Dsc3	UTSW	18	20,099,275 (GRCm39)	critical splice donor site	probably null
R7261:Dsc3	UTSW	18	20,113,814 (GRCm39)	nonsense	probably null
R7442:Dsc3	UTSW	18	20,114,213 (GRCm39)	missense	probably damaging	1.00
R7795:Dsc3	UTSW	18	20,099,288 (GRCm39)	missense	probably damaging	1.00
R8051:Dsc3	UTSW	18	20,114,270 (GRCm39)	missense	probably damaging	1.00
R8531:Dsc3	UTSW	18	20,114,274 (GRCm39)	missense	probably damaging	1.00
R8531:Dsc3	UTSW	18	20,101,449 (GRCm39)	missense	probably benign
R8872:Dsc3	UTSW	18	20,122,679 (GRCm39)	missense	probably benign	0.02
R8927:Dsc3	UTSW	18	20,107,234 (GRCm39)	missense	probably benign
R8928:Dsc3	UTSW	18	20,107,234 (GRCm39)	missense	probably benign
R9140:Dsc3	UTSW	18	20,122,616 (GRCm39)	missense	probably benign	0.01
R9493:Dsc3	UTSW	18	20,122,752 (GRCm39)	nonsense	probably null
X0061:Dsc3	UTSW	18	20,122,684 (GRCm39)	missense	probably damaging	1.00
Z1177:Dsc3	UTSW	18	20,099,372 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16