Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02259:Cd63'

286659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd63

Ensembl Gene

ENSMUSG00000025351

Gene Name

CD63 antigen

Synonyms

Tspan30, ME491

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02259

Quality Score

Status

Chromosome

Chromosomal Location

128736858-128748691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128747843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 113 (S113P)

Ref Sequence

ENSEMBL: ENSMUSP00000151955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026406] [ENSMUST00000026407] [ENSMUST00000105229] [ENSMUST00000137747] [ENSMUST00000149961] [ENSMUST00000219317] [ENSMUST00000220308]

AlphaFold

P41731

Predicted Effect

probably benign
Transcript: ENSMUST00000026406

SMART Domains

Protein: ENSMUSP00000026406
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:adh_short	29	194	3.6e-23	PFAM
Pfam:adh_short_C2	35	230	6.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026407
AA Change: S113P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000026407
Gene: ENSMUSG00000025351
AA Change: S113P

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	231	1.3e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105229
AA Change: S113P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000100862
Gene: ENSMUSG00000025351
AA Change: S113P

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	231	1.3e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137747

SMART Domains

Protein: ENSMUSP00000116558
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
PDB:2JAP\|D	1	80	6e-11	PDB
SCOP:d1hu4a_	1	151	1e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139217

Predicted Effect

probably benign
Transcript: ENSMUST00000149961

SMART Domains

Protein: ENSMUSP00000123183
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
Pfam:adh_short	2	124	4e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220245

Predicted Effect

probably benign
Transcript: ENSMUST00000219317
AA Change: S113P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000220308
AA Change: S113P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous null mice are viable and fertile without gross morphological abnormalities, but show an altered water balance, indicated by an increased urinary flow, water intake, reduced urine osmolality, and a higher fecal water content. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	A	G	14: 44,239,363 (GRCm39)	F122L	probably benign	Het
Atm	A	T	9: 53,429,794 (GRCm39)		probably benign	Het
Ccsap	G	A	8: 124,572,166 (GRCm39)	T112M	possibly damaging	Het
Cntnap5c	T	C	17: 58,341,857 (GRCm39)	F183L	probably damaging	Het
Cux1	T	A	5: 136,355,687 (GRCm39)	S321C	probably damaging	Het
Cyp2ab1	G	A	16: 20,131,897 (GRCm39)	T281I	probably damaging	Het
Cyp2c40	A	C	19: 39,792,246 (GRCm39)	C233G	probably benign	Het
Dnah8	T	C	17: 30,978,588 (GRCm39)	I2955T	probably benign	Het
Drc7	A	G	8: 95,782,733 (GRCm39)	T33A	probably benign	Het
Gigyf2	T	A	1: 87,339,559 (GRCm39)	Y481N	probably damaging	Het
Gsap	A	T	5: 21,391,398 (GRCm39)	E13V	probably benign	Het
Ifna4	A	G	4: 88,760,293 (GRCm39)	K66E	probably damaging	Het
Kif14	T	A	1: 136,427,840 (GRCm39)	M1103K	probably benign	Het
Kif6	A	T	17: 50,202,919 (GRCm39)		probably benign	Het
Lsm14a	G	T	7: 34,070,558 (GRCm39)	P113T	probably damaging	Het
Med12l	T	A	3: 59,153,264 (GRCm39)	N1096K	probably damaging	Het
Med13	C	A	11: 86,248,327 (GRCm39)	G9W	possibly damaging	Het
Minar1	A	T	9: 89,484,412 (GRCm39)	H328Q	possibly damaging	Het
Nbr1	G	A	11: 101,468,816 (GRCm39)	A639T	probably damaging	Het
Nid2	G	T	14: 19,818,277 (GRCm39)		probably null	Het
Numa1	A	G	7: 101,636,955 (GRCm39)	D22G	possibly damaging	Het
Or13p10	G	A	4: 118,523,634 (GRCm39)	V307I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Phkg2	A	G	7: 127,181,458 (GRCm39)		probably benign	Het
Plcb4	T	C	2: 135,752,166 (GRCm39)		probably null	Het
Plch1	C	T	3: 63,630,170 (GRCm39)		probably null	Het
Prb1b	A	T	6: 132,289,637 (GRCm39)	D62E	unknown	Het
Prl8a1	A	C	13: 27,766,089 (GRCm39)	V2G	probably benign	Het
Spata31	T	C	13: 65,069,297 (GRCm39)	S482P	possibly damaging	Het
Tbc1d4	A	G	14: 101,703,166 (GRCm39)	C760R	probably damaging	Het
Tgs1	A	G	4: 3,604,743 (GRCm39)	N722D	probably damaging	Het
Tmcc2	T	C	1: 132,288,898 (GRCm39)	D28G	probably benign	Het
Zfp457	C	T	13: 67,444,471 (GRCm39)	A11T	possibly damaging	Het
Zfp879	T	C	11: 50,729,255 (GRCm39)	S48G	probably benign	Het

Other mutations in Cd63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02683:Cd63	APN	10	128,746,299 (GRCm39)	missense	probably damaging	1.00
R5212:Cd63	UTSW	10	128,747,722 (GRCm39)	missense	probably damaging	1.00
R5775:Cd63	UTSW	10	128,746,299 (GRCm39)	missense	probably damaging	0.99
R5888:Cd63	UTSW	10	128,748,160 (GRCm39)	splice site	probably null
R6180:Cd63	UTSW	10	128,747,933 (GRCm39)	critical splice donor site	probably null
R6526:Cd63	UTSW	10	128,747,358 (GRCm39)	missense	probably benign	0.01
R7300:Cd63	UTSW	10	128,748,034 (GRCm39)	missense	probably benign	0.00
R8791:Cd63	UTSW	10	128,748,071 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16