Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Tspan5'

199555

Institutional Source

Beutler Lab

Gene Symbol

Tspan5

Ensembl Gene

ENSMUSG00000028152

Gene Name

tetraspanin 5

Synonyms

NET-4, 4930505M03Rik, Tm4sf9, 2810455A09Rik

MMRRC Submission

039766-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138447609-138610194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138603901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 131 (Y131H)

Ref Sequence

ENSEMBL: ENSMUSP00000113359 (fasta)

Gene Model

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

AlphaFold

P62080

Predicted Effect

probably damaging
Transcript: ENSMUST00000029800
AA Change: Y202H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029800
Gene: ENSMUSG00000028152
AA Change: Y202H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119993
AA Change: Y131H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113230
Gene: ENSMUSG00000028152
AA Change: Y131H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121826
AA Change: Y131H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113359
Gene: ENSMUSG00000028152
AA Change: Y131H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127772

Predicted Effect

probably benign
Transcript: ENSMUST00000135629

SMART Domains

Protein: ENSMUSP00000120961
Gene: ENSMUSG00000028152

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

Predicted Effect

silent
Transcript: ENSMUST00000142001

SMART Domains

Protein: ENSMUSP00000117857
Gene: ENSMUSG00000028152

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

Predicted Effect

silent
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 benign
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 benign
Transcript: ENSMUST00000146356

SMART Domains

Protein: ENSMUSP00000114663
Gene: ENSMUSG00000028152

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

Meta Mutation Damage Score

0.1215

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,596 (GRCm39)	C379S	probably benign	Het
Abca13	T	C	11: 9,535,460 (GRCm39)	C4695R	probably benign	Het
Actr10	T	A	12: 71,008,770 (GRCm39)	V401E	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,380,557 (GRCm39)	I59K	probably damaging	Het
Alms1	T	A	6: 85,618,532 (GRCm39)		probably null	Het
Anln	A	T	9: 22,262,251 (GRCm39)	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,291,854 (GRCm39)	T733A	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chac1	A	T	2: 119,183,939 (GRCm39)	L180F	probably damaging	Het
Cherp	A	T	8: 73,223,932 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,738 (GRCm39)	S442P	probably benign	Het
Clstn3	G	A	6: 124,413,773 (GRCm39)		probably benign	Het
Crb2	T	A	2: 37,683,668 (GRCm39)	C1057S	probably damaging	Het
Dact2	T	C	17: 14,416,901 (GRCm39)	D433G	probably benign	Het
Dnah6	G	A	6: 73,021,744 (GRCm39)	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,307,809 (GRCm39)	T210A	probably benign	Het
Fat2	A	G	11: 55,172,197 (GRCm39)	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,735 (GRCm39)	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,281,637 (GRCm39)		noncoding transcript	Het
Grm3	C	T	5: 9,639,742 (GRCm39)	R101K	probably benign	Het
Hspa12b	A	G	2: 130,980,456 (GRCm39)	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,167,241 (GRCm39)	T437A	probably benign	Het
Itprid2	G	A	2: 79,488,166 (GRCm39)	V750M	probably damaging	Het
Jcad	T	C	18: 4,674,526 (GRCm39)	F763L	probably damaging	Het
Map3k10	T	C	7: 27,357,540 (GRCm39)	D746G	probably damaging	Het
Mettl9	T	A	7: 120,647,064 (GRCm39)	Y57N	probably damaging	Het
Nav2	G	A	7: 49,225,468 (GRCm39)	E1803K	probably damaging	Het
Nol11	G	A	11: 107,066,449 (GRCm39)	S447L	possibly damaging	Het
Or14a256	C	T	7: 86,265,425 (GRCm39)	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,921,373 (GRCm39)		probably null	Het
Pde6a	A	G	18: 61,419,036 (GRCm39)	N804S	probably damaging	Het
Pepd	A	T	7: 34,730,851 (GRCm39)	D301V	probably benign	Het
Piwil2	A	T	14: 70,663,954 (GRCm39)		probably null	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,369,683 (GRCm39)	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,119,630 (GRCm39)		probably null	Het
Slc7a11	G	A	3: 50,326,795 (GRCm39)	Q489*	probably null	Het
Sned1	G	A	1: 93,187,490 (GRCm39)	D256N	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spmip9	T	A	6: 70,890,645 (GRCm39)	Q49L	probably benign	Het
Syce2	G	A	8: 85,613,776 (GRCm39)	E168K	probably benign	Het
Tmem260	G	T	14: 48,746,550 (GRCm39)	V609L	probably benign	Het
Trim35	A	G	14: 66,546,778 (GRCm39)	D515G	probably damaging	Het
Ttbk2	T	C	2: 120,586,319 (GRCm39)	I466V	probably benign	Het
Ttn	T	C	2: 76,576,157 (GRCm39)	D24912G	probably damaging	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,409,285 (GRCm39)	R204G	probably damaging	Het
Vps18	A	T	2: 119,124,423 (GRCm39)	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,667,289 (GRCm39)	E198G	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
R0736:Tspan5	UTSW	3	138,574,159 (GRCm39)	critical splice donor site	probably null
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
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'- CACTGAGAACTGTGTCATCCTGCC -3'
(R):5'- ACCAGCCACGATGGTTAAATTGTCC -3'

Sequencing Primer
(F):5'- CTGCTCTAGTAAAAGCATGGC -3'
(R):5'- GGTTAAATTGTCCTGTAGCCAC -3'

Posted On

2014-05-23