Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00560:Tspan1'

332608

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tspan1

Ensembl Gene

ENSMUSG00000028699

Gene Name

tetraspanin 1

Synonyms

9030418M05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL00560

Quality Score

Status

Chromosome

Chromosomal Location

116019066-116024798 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 116020176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030465] [ENSMUST00000106494] [ENSMUST00000106496] [ENSMUST00000106498] [ENSMUST00000120083] [ENSMUST00000121052] [ENSMUST00000143426]

AlphaFold

Q99J59

Predicted Effect

probably benign
Transcript: ENSMUST00000030465

SMART Domains

Protein: ENSMUSP00000030465
Gene: ENSMUSG00000028699

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	6	239	2.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106494

SMART Domains

Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC
PDB:2YOQ\|C	106	195	6e-10	PDB
Pfam:GNT-I	271	591	3e-52	PFAM
low complexity region	623	636	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106496

SMART Domains

Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
PDB:2YOP\|C	129	217	5e-10	PDB
Pfam:GNT-I	260	580	2.9e-52	PFAM
low complexity region	612	625	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106498

SMART Domains

Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
PDB:2YOQ\|C	129	217	6e-10	PDB
Pfam:GNT-I	293	613	3.2e-52	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120083

SMART Domains

Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
Pfam:ILEI	129	220	8.9e-28	PFAM
Pfam:GNT-I	293	612	1.9e-51	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121052

SMART Domains

Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
PDB:2YOQ\|C	129	217	6e-10	PDB
Pfam:GNT-I	293	613	3.2e-52	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154534

Predicted Effect

probably benign
Transcript: ENSMUST00000143426

SMART Domains

Protein: ENSMUSP00000121906
Gene: ENSMUSG00000028699

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	6	224	7.3e-47	PFAM

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdh6	A	C	15: 13,034,445 (GRCm39)	Y738*	probably null	Het
Hira	T	A	16: 18,765,090 (GRCm39)		probably benign	Het
Phf11b	A	G	14: 59,562,324 (GRCm39)	S194P	probably damaging	Het
Ttn	T	C	2: 76,560,573 (GRCm39)	D20949G	probably damaging	Het
Uhrf1	G	A	17: 56,625,125 (GRCm39)	G556D	probably damaging	Het
Utrn	A	T	10: 12,331,211 (GRCm39)	C434*	probably null	Het

Other mutations in Tspan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02622:Tspan1	APN	4	116,021,052 (GRCm39)	splice site	probably benign
R1970:Tspan1	UTSW	4	116,020,826 (GRCm39)	missense	possibly damaging	0.50
R2112:Tspan1	UTSW	4	116,020,885 (GRCm39)	splice site	probably null
R4022:Tspan1	UTSW	4	116,024,232 (GRCm39)	missense	probably benign	0.35
R4899:Tspan1	UTSW	4	116,020,563 (GRCm39)	nonsense	probably null
R5325:Tspan1	UTSW	4	116,021,536 (GRCm39)	missense	probably damaging	0.99
R5607:Tspan1	UTSW	4	116,021,277 (GRCm39)	missense	possibly damaging	0.57
R5853:Tspan1	UTSW	4	116,020,502 (GRCm39)	splice site	probably null
R7403:Tspan1	UTSW	4	116,020,219 (GRCm39)	missense	probably benign	0.03
R7939:Tspan1	UTSW	4	116,024,209 (GRCm39)	missense	probably damaging	1.00
R8089:Tspan1	UTSW	4	116,021,532 (GRCm39)	missense	probably null	0.79
R8432:Tspan1	UTSW	4	116,021,151 (GRCm39)	missense	probably benign	0.01
R8918:Tspan1	UTSW	4	116,020,970 (GRCm39)	missense	probably damaging	1.00
R9533:Tspan1	UTSW	4	116,020,211 (GRCm39)	missense	probably benign	0.05

Posted On

2015-08-05