Mutagenetix > Incidental Mutation

Incidental Mutation 'R1601:Tspan5'

176133

Institutional Source

Beutler Lab

Gene Symbol

Tspan5

Ensembl Gene

ENSMUSG00000028152

Gene Name

tetraspanin 5

Synonyms

NET-4, 4930505M03Rik, Tm4sf9, 2810455A09Rik

MMRRC Submission

039638-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R1601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138447609-138610194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138602596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 166 (I166N)

Ref Sequence

ENSEMBL: ENSMUSP00000029800 (fasta)

Gene Model

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

AlphaFold

P62080

Predicted Effect

probably damaging
Transcript: ENSMUST00000029800
AA Change: I166N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029800
Gene: ENSMUSG00000028152
AA Change: I166N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119993
AA Change: I95N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113230
Gene: ENSMUSG00000028152
AA Change: I95N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121826
AA Change: I95N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113359
Gene: ENSMUSG00000028152
AA Change: I95N

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

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

possibly damaging
Transcript: ENSMUST00000146356
AA Change: I95N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114663
Gene: ENSMUSG00000028152
AA Change: I95N

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Adgra2	T	C	8: 27,600,046 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,886,630 (GRCm39)	S257P	probably benign	Het
Adgre1	A	G	17: 57,748,353 (GRCm39)	K518E	probably benign	Het
Anxa7	A	T	14: 20,514,683 (GRCm39)	Y64*	probably null	Het
Arhgef7	A	G	8: 11,832,638 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,892,566 (GRCm39)	Y243*	probably null	Het
Cdk14	C	T	5: 5,185,378 (GRCm39)	V176M	probably damaging	Het
Cnbd2	A	G	2: 156,175,551 (GRCm39)	E54G	probably damaging	Het
Crx	T	C	7: 15,601,736 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,611 (GRCm39)	F511L	possibly damaging	Het
Ddx11	A	G	17: 66,457,380 (GRCm39)	M810V	probably damaging	Het
Dock10	T	C	1: 80,527,519 (GRCm39)	T1077A	probably benign	Het
Dop1a	G	A	9: 86,418,303 (GRCm39)	D2011N	probably damaging	Het
Ehhadh	T	A	16: 21,585,158 (GRCm39)	H241L	probably benign	Het
Elp1	T	A	4: 56,774,756 (GRCm39)	K740*	probably null	Het
Enah	A	T	1: 181,747,185 (GRCm39)	L523*	probably null	Het
Fabp3	T	C	4: 130,202,641 (GRCm39)	L24P	probably benign	Het
Fat2	A	G	11: 55,172,836 (GRCm39)	S2626P	probably benign	Het
Fbxo4	A	G	15: 3,998,447 (GRCm39)	M337T	possibly damaging	Het
Gas6	G	T	8: 13,515,786 (GRCm39)	T662N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Hrh4	G	A	18: 13,148,955 (GRCm39)	V106I	possibly damaging	Het
Ido2	G	T	8: 25,066,205 (GRCm39)	H20Q	possibly damaging	Het
Itga10	G	T	3: 96,560,974 (GRCm39)	R613L	possibly damaging	Het
Itsn2	T	C	12: 4,708,452 (GRCm39)	S836P	probably benign	Het
Kcng3	A	T	17: 83,895,768 (GRCm39)	C233S	probably damaging	Het
Kdm3b	A	G	18: 34,941,784 (GRCm39)	Q625R	probably damaging	Het
Kidins220	A	G	12: 25,055,087 (GRCm39)	S553G	probably benign	Het
Krt82	A	T	15: 101,453,588 (GRCm39)	I266N	probably damaging	Het
Lama5	A	T	2: 179,839,538 (GRCm39)	L736Q	probably damaging	Het
Lnx2	A	G	5: 146,970,329 (GRCm39)	C138R	probably damaging	Het
Mcm5	T	C	8: 75,845,982 (GRCm39)	C397R	possibly damaging	Het
Me1	A	C	9: 86,560,065 (GRCm39)	Y52D	probably damaging	Het
Muc4	C	A	16: 32,575,875 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 113,019,364 (GRCm39)	Q638K	possibly damaging	Het
Ncapd2	A	G	6: 125,162,735 (GRCm39)	L170P	probably damaging	Het
Neb	A	T	2: 52,177,264 (GRCm39)	L1359*	probably null	Het
Nomo1	C	A	7: 45,696,379 (GRCm39)	S299Y	probably damaging	Het
Onecut1	A	T	9: 74,769,973 (GRCm39)	H132L	probably benign	Het
Or2b2	C	A	13: 21,887,396 (GRCm39)	T75K	probably damaging	Het
Or2w3	A	T	11: 58,556,903 (GRCm39)	R173W	probably damaging	Het
Or4e2	A	C	14: 52,687,899 (GRCm39)	T10P	probably benign	Het
Or7a41	A	T	10: 78,871,338 (GRCm39)	Y236F	possibly damaging	Het
Paqr3	A	G	5: 97,259,248 (GRCm39)	Y19H	probably benign	Het
Prdx5	T	C	19: 6,884,926 (GRCm39)	H140R	possibly damaging	Het
Prox1	T	C	1: 189,893,203 (GRCm39)	D414G	probably damaging	Het
Ptprh	T	G	7: 4,555,637 (GRCm39)	E774A	probably damaging	Het
Rnpepl1	A	T	1: 92,844,944 (GRCm39)	D412V	possibly damaging	Het
Sars2	C	T	7: 28,448,396 (GRCm39)	T259M	probably benign	Het
Sbf2	T	C	7: 109,939,283 (GRCm39)		probably null	Het
Sbno2	C	T	10: 79,896,326 (GRCm39)	R898H	probably damaging	Het
Smox	C	A	2: 131,362,094 (GRCm39)	T172N	probably damaging	Het
Taf7l2	T	C	10: 115,949,521 (GRCm39)	S2G	probably damaging	Het
Tdrd9	C	T	12: 111,989,687 (GRCm39)	R341*	probably null	Het
Thrap3	C	G	4: 126,073,894 (GRCm39)	G284A	probably damaging	Het
Tmtc4	A	G	14: 123,182,238 (GRCm39)	V271A	probably benign	Het
Trank1	A	G	9: 111,202,545 (GRCm39)	T1637A	probably damaging	Het
Vps13b	T	C	15: 35,642,582 (GRCm39)	V1398A	probably benign	Het
Xbp1	C	T	11: 5,471,975 (GRCm39)	R34W	probably damaging	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
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'- GCTGTACAATGTCCCATGCCAAACC -3'
(R):5'- AGACAGAAATGGCTCTGCCGTCAC -3'

Sequencing Primer
(F):5'- CAGCCTACATCCCTTTGGAAG -3'
(R):5'- CTCTGCCGTCACACGGG -3'

Posted On

2014-04-24