Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01603:Tspan5'

92183

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tspan5

Ensembl Gene

ENSMUSG00000028152

Gene Name

tetraspanin 5

Synonyms

NET-4, 4930505M03Rik, Tm4sf9, 2810455A09Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

IGL01603

Quality Score

Status

Chromosome

Chromosomal Location

138447609-138610194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138596517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 52 (S52P)

Ref Sequence

ENSEMBL: ENSMUSP00000029800 (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: S52P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029800
Gene: ENSMUSG00000028152
AA Change: S52P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119993

SMART Domains

Protein: ENSMUSP00000113230
Gene: ENSMUSG00000028152

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

Predicted Effect

probably benign
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 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

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

possibly damaging
Transcript: ENSMUST00000142890
AA Change: S52P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120969
Gene: ENSMUSG00000028152
AA Change: S52P

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	T	A	17: 32,564,327 (GRCm39)	D20V	probably damaging	Het
Akr1c12	A	G	13: 4,322,926 (GRCm39)		probably null	Het
Baiap2l1	C	T	5: 144,217,625 (GRCm39)		probably benign	Het
Baz2a	T	C	10: 127,947,037 (GRCm39)	F184L	probably damaging	Het
Cadps	T	C	14: 12,454,154 (GRCm38)		probably benign	Het
Cbr4	A	T	8: 61,956,245 (GRCm39)	*237Y	probably null	Het
Cln3	T	G	7: 126,174,526 (GRCm39)	N275T	probably benign	Het
Csf1r	A	G	18: 61,262,373 (GRCm39)	E823G	probably damaging	Het
Ctr9	C	A	7: 110,648,538 (GRCm39)	A726D	probably damaging	Het
Def6	C	T	17: 28,438,714 (GRCm39)		probably benign	Het
Dock4	T	A	12: 40,743,030 (GRCm39)	I395N	probably damaging	Het
Eln	T	C	5: 134,747,894 (GRCm39)		probably benign	Het
Fasn	A	T	11: 120,706,891 (GRCm39)	H920Q	probably damaging	Het
Glb1l3	A	G	9: 26,770,832 (GRCm39)	I78T	probably damaging	Het
Gm7275	A	T	16: 47,893,942 (GRCm39)		noncoding transcript	Het
Grm5	A	C	7: 87,252,386 (GRCm39)	Y212S	probably damaging	Het
Gtf2ird2	T	C	5: 134,231,129 (GRCm39)		probably benign	Het
Gucy1b1	A	G	3: 81,942,175 (GRCm39)	V528A	probably damaging	Het
Hspg2	G	A	4: 137,280,114 (GRCm39)	A3168T	probably damaging	Het
Kcnj6	A	G	16: 94,634,058 (GRCm39)	S18P	probably benign	Het
Kcnq5	T	A	1: 21,575,564 (GRCm39)	K294I	possibly damaging	Het
Lama4	G	A	10: 38,941,642 (GRCm39)	G693E	possibly damaging	Het
Ldb1	A	T	19: 46,024,014 (GRCm39)	I124K	probably damaging	Het
Lrrfip1	C	T	1: 91,043,635 (GRCm39)	T680I	probably benign	Het
Lypd10	T	A	7: 24,411,954 (GRCm39)	W45R	probably damaging	Het
Map3k19	T	A	1: 127,758,010 (GRCm39)	D186V	possibly damaging	Het
Mrgprx2	T	C	7: 48,132,374 (GRCm39)	Y148C	probably damaging	Het
Muc4	G	A	16: 32,569,473 (GRCm39)	A178T	probably benign	Het
Mylip	A	C	13: 45,543,479 (GRCm39)	E16A	probably benign	Het
Nek9	A	G	12: 85,352,379 (GRCm39)	F828S	probably damaging	Het
Obscn	A	G	11: 58,928,631 (GRCm39)	F6012L	probably damaging	Het
Or14a257	A	G	7: 86,138,139 (GRCm39)	S207P	possibly damaging	Het
Or2o1	A	C	11: 49,051,438 (GRCm39)	D199A	probably damaging	Het
Or5p54	A	G	7: 107,554,580 (GRCm39)	Y244C	possibly damaging	Het
Pcid2	T	A	8: 13,129,936 (GRCm39)	K273N	possibly damaging	Het
Plekhm3	C	T	1: 64,960,991 (GRCm39)	D422N	probably damaging	Het
Prr12	T	C	7: 44,692,909 (GRCm39)	H1541R	probably damaging	Het
Psg26	A	C	7: 18,209,028 (GRCm39)	V460G	probably damaging	Het
Rbmxl1	G	A	8: 79,232,459 (GRCm39)	R295*	probably null	Het
Sbf1	A	T	15: 89,187,481 (GRCm39)	V690E	probably damaging	Het
Serpinb2	T	A	1: 107,449,910 (GRCm39)	S108T	probably benign	Het
Sin3b	T	C	8: 73,476,692 (GRCm39)	Y709H	probably damaging	Het
Slc17a5	A	G	9: 78,481,989 (GRCm39)	W160R	probably damaging	Het
Spef2	T	A	15: 9,704,466 (GRCm39)	D449V	probably damaging	Het
Tas2r108	C	A	6: 40,470,720 (GRCm39)	N65K	possibly damaging	Het
Tex15	T	A	8: 34,063,575 (GRCm39)	F1002I	possibly damaging	Het
Trpm5	G	A	7: 142,629,338 (GRCm39)	S942L	probably benign	Het
Uqcrfs1	T	C	13: 30,725,181 (GRCm39)	T120A	probably benign	Het
Usp6nl	T	C	2: 6,428,246 (GRCm39)	F193L	probably damaging	Het
Vmn2r26	T	A	6: 124,030,833 (GRCm39)	C523S	probably damaging	Het
Wfdc2	C	T	2: 164,405,979 (GRCm39)	P92S	probably benign	Het
Zbtb18	A	T	1: 177,275,549 (GRCm39)	H303L	probably benign	Het
Zfp174	A	T	16: 3,672,153 (GRCm39)	H234L	probably benign	Het
Zmynd12	T	C	4: 119,299,117 (GRCm39)		probably null	Het

Other mutations in Tspan5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09