Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02034:Cd81'

184451

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd81

Ensembl Gene

ENSMUSG00000037706

Gene Name

CD81 antigen

Synonyms

Tspan28, Tapa1, Tapa-1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

IGL02034

Quality Score

Status

Chromosome

Chromosomal Location

142606487-142621667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142619986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 48 (I48T)

Ref Sequence

ENSEMBL: ENSMUSP00000147255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037941] [ENSMUST00000060433] [ENSMUST00000105920] [ENSMUST00000133410] [ENSMUST00000141954] [ENSMUST00000207448] [ENSMUST00000208779] [ENSMUST00000137856] [ENSMUST00000147995] [ENSMUST00000177841]

AlphaFold

P35762

Predicted Effect

probably damaging
Transcript: ENSMUST00000037941
AA Change: I119T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043768
Gene: ENSMUSG00000037706
AA Change: I119T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	230	9.1e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060433

SMART Domains

Protein: ENSMUSP00000056582
Gene: ENSMUSG00000045752

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
Pfam:TSSC4	91	207	3.9e-43	PFAM
low complexity region	232	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105920

SMART Domains

Protein: ENSMUSP00000101540
Gene: ENSMUSG00000045752

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132303

Predicted Effect

probably benign
Transcript: ENSMUST00000133410

SMART Domains

Protein: ENSMUSP00000123499
Gene: ENSMUSG00000045752

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
low complexity region	85	106	N/A	INTRINSIC
low complexity region	124	138	N/A	INTRINSIC
Pfam:TSSC4	159	266	5.2e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141954
AA Change: I48T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207448
AA Change: I48T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207776

Predicted Effect

probably benign
Transcript: ENSMUST00000208779

Predicted Effect

probably benign
Transcript: ENSMUST00000137856

SMART Domains

Protein: ENSMUSP00000123353
Gene: ENSMUSG00000045752

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
Pfam:TSSC4	90	209	1.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147995

SMART Domains

Protein: ENSMUSP00000122335
Gene: ENSMUSG00000045752

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
Pfam:TSSC4	90	196	4.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177841

SMART Domains

Protein: ENSMUSP00000137399
Gene: ENSMUSG00000045752

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
Pfam:TSSC4	90	210	1.7e-34	PFAM
low complexity region	232	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136602

Predicted Effect

probably benign
Transcript: ENSMUST00000148715

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. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered antibody responses to specific antigens, reductions in peritoneal B-1 cell numbers and IL4 production, increased plasma IgA and IgM levels, and enlarged brains with more astrocytes and microglia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcor	A	G	X: 11,905,498 (GRCm39)	S1556P	possibly damaging	Het
Brd10	A	G	19: 29,694,259 (GRCm39)	S1745P	possibly damaging	Het
Ccdc6	T	A	10: 70,004,978 (GRCm39)	I241N	probably benign	Het
Cfap52	A	G	11: 67,837,118 (GRCm39)		probably null	Het
Cfap54	T	C	10: 92,897,347 (GRCm39)	M264V	probably damaging	Het
Cmya5	G	A	13: 93,221,043 (GRCm39)		probably benign	Het
Csn2	A	G	5: 87,843,941 (GRCm39)		probably benign	Het
Cyfip1	G	A	7: 55,548,101 (GRCm39)	R567Q	probably damaging	Het
Ehbp1	A	G	11: 22,235,486 (GRCm39)		probably null	Het
Ermp1	G	A	19: 29,623,359 (GRCm39)		probably benign	Het
Erv3	C	T	2: 131,697,934 (GRCm39)	V142I	possibly damaging	Het
Fzd2	A	G	11: 102,495,730 (GRCm39)	N58S	probably damaging	Het
Gcm2	G	A	13: 41,259,269 (GRCm39)	R67C	probably damaging	Het
Gm17019	A	G	5: 15,080,266 (GRCm39)	I182T	possibly damaging	Het
Gpr45	T	C	1: 43,072,478 (GRCm39)	*374Q	probably null	Het
Haus8	T	C	8: 71,708,202 (GRCm39)	N165S	probably damaging	Het
Hoxd4	T	A	2: 74,558,750 (GRCm39)	L191Q	probably damaging	Het
I830077J02Rik	A	G	3: 105,834,565 (GRCm39)		probably benign	Het
Lpl	T	C	8: 69,333,424 (GRCm39)	L7P	possibly damaging	Het
Lrp1b	T	A	2: 41,158,382 (GRCm39)	K1612*	probably null	Het
Myh14	G	T	7: 44,265,717 (GRCm39)	A1546D	possibly damaging	Het
Nbea	A	G	3: 55,875,577 (GRCm39)	S1698P	probably damaging	Het
Or10p22	A	T	10: 128,826,570 (GRCm39)	Q263L	probably benign	Het
Or4c112	C	T	2: 88,854,015 (GRCm39)	V111M	probably benign	Het
Or52e7	C	A	7: 104,684,597 (GRCm39)	T64N	probably benign	Het
Or5p51	G	A	7: 107,444,385 (GRCm39)	T185I	probably benign	Het
Otog	A	T	7: 45,945,417 (GRCm39)	K40*	probably null	Het
Rgma	C	A	7: 73,067,181 (GRCm39)	H145Q	probably damaging	Het
Rpgrip1l	A	T	8: 91,977,776 (GRCm39)		probably null	Het
Ssxb2	T	A	X: 8,324,743 (GRCm39)		probably benign	Het
Tmem175	C	T	5: 108,790,002 (GRCm39)	T118I	probably damaging	Het
Wdhd1	A	G	14: 47,498,808 (GRCm39)	V542A	probably benign	Het
Zfp977	G	A	7: 42,230,136 (GRCm39)	P130S	probably damaging	Het

Other mutations in Cd81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Cd81	APN	7	142,620,901 (GRCm39)	missense	probably damaging	0.97
IGL02299:Cd81	APN	7	142,619,015 (GRCm39)	missense	probably damaging	1.00
IGL03024:Cd81	APN	7	142,621,089 (GRCm39)	missense	probably benign	0.04
R0893:Cd81	UTSW	7	142,616,242 (GRCm39)	missense	possibly damaging	0.88
R1990:Cd81	UTSW	7	142,620,938 (GRCm39)	nonsense	probably null
R1991:Cd81	UTSW	7	142,620,938 (GRCm39)	nonsense	probably null
R2234:Cd81	UTSW	7	142,620,056 (GRCm39)	missense	probably benign	0.02
R4059:Cd81	UTSW	7	142,619,030 (GRCm39)	missense	probably damaging	1.00
R6172:Cd81	UTSW	7	142,606,691 (GRCm39)	unclassified	probably benign

Posted On

2014-05-07