Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02701:Tspan4'

304127

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tspan4

Ensembl Gene

ENSMUSG00000025511

Gene Name

tetraspanin 4

Synonyms

Tspan-4, novel antigen 2, Tm4sf7, NAG-2, D130042I01Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

141475240-141493427 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141492028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 205 (V205M)

Ref Sequence

ENSEMBL: ENSMUSP00000113085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026585] [ENSMUST00000026586] [ENSMUST00000117634] [ENSMUST00000118694] [ENSMUST00000138092] [ENSMUST00000140858] [ENSMUST00000146305] [ENSMUST00000153191] [ENSMUST00000166082] [ENSMUST00000209452]

AlphaFold

Q9DCK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000026585
AA Change: V205M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026585
Gene: ENSMUSG00000025511
AA Change: V205M

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	230	4.7e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026586

SMART Domains

Protein: ENSMUSP00000026586
Gene: ENSMUSG00000025512

Domain	Start	End	E-Value	Type
PDB:3BXW\|A	4	240	1e-142	PDB
Blast:Glyco_18	82	302	1e-139	BLAST
SCOP:d1e9la1	84	240	1e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064642

SMART Domains

Protein: ENSMUSP00000065953
Gene: ENSMUSG00000025512

Domain	Start	End	E-Value	Type
PDB:3BXW\|A	3	236	1e-143	PDB
Blast:Glyco_18	81	268	1e-121	BLAST
SCOP:d1e9la1	83	236	2e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117634
AA Change: V205M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113085
Gene: ENSMUSG00000025511
AA Change: V205M

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	230	1.1e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118694

SMART Domains

Protein: ENSMUSP00000112891
Gene: ENSMUSG00000025512

Domain	Start	End	E-Value	Type
PDB:3BXW\|A	1	237	1e-142	PDB
Blast:Glyco_18	79	299	1e-139	BLAST
SCOP:d1e9la1	81	237	1e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130402

Predicted Effect

probably benign
Transcript: ENSMUST00000138092

SMART Domains

Protein: ENSMUSP00000115421
Gene: ENSMUSG00000025511

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	154	1.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140858

Predicted Effect

probably benign
Transcript: ENSMUST00000146305

SMART Domains

Protein: ENSMUSP00000118533
Gene: ENSMUSG00000025511

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	158	2.5e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147610

Predicted Effect

probably benign
Transcript: ENSMUST00000153191

SMART Domains

Protein: ENSMUSP00000114693
Gene: ENSMUSG00000025512

Domain	Start	End	E-Value	Type
low complexity region	22	32	N/A	INTRINSIC
Glyco_18	79	385	3.54e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166082

SMART Domains

Protein: ENSMUSP00000130360
Gene: ENSMUSG00000025512

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Glyco_18	82	388	3.54e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209452

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 and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Gm813	G	A	16: 58,615,807	S51L	probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Itga5	A	C	15: 103,347,766	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,741,772	E363G	probably benign	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357	V178A	probably damaging	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plekhg5	T	C	4: 152,103,022	S82P	probably damaging	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,316,649		probably null	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slc44a2	T	C	9: 21,347,951	F554L	probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Thbs2	T	C	17: 14,683,361	I353V	probably benign	Het
Vezf1	A	T	11: 88,076,221	R93*	probably null	Het
Wwox	T	A	8: 114,706,368	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,444,755		probably benign	Het

Other mutations in Tspan4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03220:Tspan4	APN	7	141491799	missense	probably damaging	1.00
R1609:Tspan4	UTSW	7	141491644	missense	probably damaging	1.00
R5286:Tspan4	UTSW	7	141482570	splice site	probably null
R5335:Tspan4	UTSW	7	141489615	missense	probably damaging	1.00
R8343:Tspan4	UTSW	7	141491805	missense	probably damaging	1.00
R9027:Tspan4	UTSW	7	141489664	missense	probably benign
R9098:Tspan4	UTSW	7	141491903	missense	probably benign	0.18

Posted On

2015-04-16