Mutagenetix > Incidental Mutation

Incidental Mutation 'R0736:Tspan5'

67283

Institutional Source

Beutler Lab

Gene Symbol

Tspan5

Ensembl Gene

ENSMUSG00000028152

Gene Name

tetraspanin 5

Synonyms

NET-4, 4930505M03Rik, Tm4sf9, 2810455A09Rik

MMRRC Submission

038917-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R0736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138447609-138610194 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 138574159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029800] [ENSMUST00000119993] [ENSMUST00000119993] [ENSMUST00000121826] [ENSMUST00000121826] [ENSMUST00000127772] [ENSMUST00000135629] [ENSMUST00000135629] [ENSMUST00000142001] [ENSMUST00000142890] [ENSMUST00000146356] [ENSMUST00000146356] [ENSMUST00000153336] [ENSMUST00000153336]

AlphaFold

P62080

Predicted Effect

probably null
Transcript: ENSMUST00000029800

SMART Domains

Protein: ENSMUSP00000029800
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	13	261	4.4e-57	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000119993

SMART Domains

Protein: ENSMUSP00000113230
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	190	1e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000119993

SMART Domains

Protein: ENSMUSP00000113230
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	190	1e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121826

SMART Domains

Protein: ENSMUSP00000113359
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	190	1e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121826

SMART Domains

Protein: ENSMUSP00000113359
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	190	1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127772

Predicted Effect

probably null
Transcript: ENSMUST00000135629

SMART Domains

Protein: ENSMUSP00000120961
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	79	3.3e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000135629

SMART Domains

Protein: ENSMUSP00000120961
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	79	3.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142001

SMART Domains

Protein: ENSMUSP00000117857
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	80	1.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142890

SMART Domains

Protein: ENSMUSP00000120969
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	14	151	6.5e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000146356

SMART Domains

Protein: ENSMUSP00000114663
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	105	2.3e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000146356

SMART Domains

Protein: ENSMUSP00000114663
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	105	2.3e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000153336

SMART Domains

Protein: ENSMUSP00000122120
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	30	139	6.7e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000153336

SMART Domains

Protein: ENSMUSP00000122120
Gene: ENSMUSG00000028152

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	30	139	6.7e-22	PFAM

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.6%
20x: 95.3%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amn1	G	A	6: 149,084,970 (GRCm39)	H37Y	possibly damaging	Het
Cacna2d3	A	T	14: 28,780,585 (GRCm39)	H644Q	probably benign	Het
Calb1	G	A	4: 15,898,917 (GRCm39)	V138M	probably benign	Het
Cep55	C	A	19: 38,061,765 (GRCm39)	T402N	probably benign	Het
Chrnb3	G	A	8: 27,875,078 (GRCm39)	A26T	probably benign	Het
Col6a3	C	T	1: 90,731,811 (GRCm39)	V1481I	possibly damaging	Het
Dmxl2	C	T	9: 54,286,101 (GRCm39)	V2695I	probably damaging	Het
Elapor2	A	T	5: 9,491,745 (GRCm39)	S702C	probably damaging	Het
Heatr5a	A	C	12: 51,943,344 (GRCm39)		probably null	Het
Kmt2c	C	T	5: 25,500,432 (GRCm39)	M461I	probably benign	Het
Mapk9	G	A	11: 49,774,081 (GRCm39)	D413N	possibly damaging	Het
Morc4	G	T	X: 138,755,700 (GRCm39)	Q239K	probably benign	Het
Myt1l	T	A	12: 29,877,813 (GRCm39)	V488D	unknown	Het
Neb	A	T	2: 52,082,024 (GRCm39)	Y24N	probably damaging	Het
Neo1	G	A	9: 58,824,364 (GRCm39)	P688L	possibly damaging	Het
Nlrp9b	A	T	7: 19,783,375 (GRCm39)	D409V	probably damaging	Het
Pcare	A	G	17: 72,051,659 (GRCm39)	V1231A	probably benign	Het
Pde7a	T	C	3: 19,285,207 (GRCm39)	N327D	probably damaging	Het
Pdzd8	C	A	19: 59,333,365 (GRCm39)	V219L	probably damaging	Het
Pgc	T	A	17: 48,039,705 (GRCm39)	M33K	probably damaging	Het
Pik3ap1	T	A	19: 41,320,758 (GRCm39)	T154S	possibly damaging	Het
Polm	G	C	11: 5,785,495 (GRCm39)	S188C	possibly damaging	Het
Slfn1	A	T	11: 83,011,907 (GRCm39)	T8S	probably benign	Het
St8sia6	C	T	2: 13,673,696 (GRCm39)	V179M	probably benign	Het
Tns3	A	T	11: 8,469,474 (GRCm39)	F274I	possibly damaging	Het
Utp14b	A	G	1: 78,642,989 (GRCm39)	K296E	probably damaging	Het
Zbtb14	A	G	17: 69,694,797 (GRCm39)	E165G	possibly damaging	Het
Zbtb17	C	A	4: 141,189,097 (GRCm39)	H6N	probably damaging	Het
Zw10	C	T	9: 48,975,432 (GRCm39)	H286Y	probably benign	Het

Other mutations in Tspan5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Tspan5	APN	3	138,596,517 (GRCm39)	missense	probably damaging	1.00
R0144:Tspan5	UTSW	3	138,604,109 (GRCm39)	missense	probably damaging	0.99
R1546:Tspan5	UTSW	3	138,604,102 (GRCm39)	missense	probably damaging	1.00
R1601:Tspan5	UTSW	3	138,602,596 (GRCm39)	missense	probably damaging	1.00
R1734:Tspan5	UTSW	3	138,603,901 (GRCm39)	missense	probably damaging	1.00
R2327:Tspan5	UTSW	3	138,603,903 (GRCm39)	nonsense	probably null
R3037:Tspan5	UTSW	3	138,604,116 (GRCm39)	missense	probably damaging	1.00
R4132:Tspan5	UTSW	3	138,602,628 (GRCm39)	nonsense	probably null
R4648:Tspan5	UTSW	3	138,604,076 (GRCm39)	missense	probably damaging	1.00
R7356:Tspan5	UTSW	3	138,448,193 (GRCm39)	unclassified	probably benign
R7444:Tspan5	UTSW	3	138,603,883 (GRCm39)	missense	possibly damaging	0.82
Z1088:Tspan5	UTSW	3	138,604,087 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- ATCGCTGCCTCACTAATGTGTGCC -3'
(R):5'- ATGTCGTGAGCACTTGAGACACCC -3'

Sequencing Primer
(F):5'- AGCttttttggtttgtttggtttg -3'
(R):5'- CAGTCGTGAAGAATGCTTCC -3'

Posted On

2013-09-03