Mutagenetix > Incidental Mutation

Incidental Mutation 'R9063:Tspan9'

689079

Institutional Source

Beutler Lab

Gene Symbol

Tspan9

Ensembl Gene

ENSMUSG00000030352

Gene Name

tetraspanin 9

Synonyms

6720474K14Rik, 9430079M16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R9063 (G1)

Quality Score

191.009

Status

Not validated

Chromosome

Chromosomal Location

127938359-128120541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127944072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 76 (I76T)

Ref Sequence

ENSEMBL: ENSMUSP00000032503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032503] [ENSMUST00000112171] [ENSMUST00000112173] [ENSMUST00000123786] [ENSMUST00000127105] [ENSMUST00000145940] [ENSMUST00000146268] [ENSMUST00000154375] [ENSMUST00000202372]

AlphaFold

Q8BJU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032503
AA Change: I76T

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

SMART Domains

Protein: ENSMUSP00000032503
Gene: ENSMUSG00000030352
AA Change: I76T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	230	4e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112171
AA Change: I76T

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

SMART Domains

Protein: ENSMUSP00000107794
Gene: ENSMUSG00000030352
AA Change: I76T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	230	4e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112173
AA Change: I76T

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

SMART Domains

Protein: ENSMUSP00000107796
Gene: ENSMUSG00000030352
AA Change: I76T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	7	230	1.7e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123786
AA Change: I76T

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

SMART Domains

Protein: ENSMUSP00000115922
Gene: ENSMUSG00000030352
AA Change: I76T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	171	2.9e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127105

SMART Domains

Protein: ENSMUSP00000115324
Gene: ENSMUSG00000030352

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	57	5.4e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000145940
AA Change: I12T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146268
AA Change: I76T

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

SMART Domains

Protein: ENSMUSP00000116142
Gene: ENSMUSG00000030352
AA Change: I76T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	122	2.3e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154375
AA Change: I76T

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

SMART Domains

Protein: ENSMUSP00000114763
Gene: ENSMUSG00000030352
AA Change: I76T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	127	3.4e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000202372
AA Change: I76T

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

SMART Domains

Protein: ENSMUSP00000143827
Gene: ENSMUSG00000030352
AA Change: I76T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	7	161	1.5e-40	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	G	7: 115,703,660 (GRCm39)	S178A	probably benign	Het
Add3	T	C	19: 53,222,302 (GRCm39)	L303P	probably damaging	Het
Agr2	T	A	12: 36,053,898 (GRCm39)	*176K	probably null	Het
Apobr	C	T	7: 126,185,920 (GRCm39)	T477I	probably benign	Het
Cdca7l	G	A	12: 117,838,536 (GRCm39)	V336M	probably damaging	Het
Cep63	T	G	9: 102,496,227 (GRCm39)	H18P	unknown	Het
Copa	A	G	1: 171,944,529 (GRCm39)	D838G	probably benign	Het
Cspg4	G	T	9: 56,795,687 (GRCm39)	V1141L	probably benign	Het
D930020B18Rik	A	G	10: 121,497,002 (GRCm39)	T146A	probably benign	Het
Dapk1	A	T	13: 60,866,264 (GRCm39)	I206L	probably benign	Het
Emsy	C	T	7: 98,295,684 (GRCm39)	D73N	probably damaging	Het
Esr2	A	T	12: 76,168,590 (GRCm39)	Y540N	probably benign	Het
Exoc7	C	A	11: 116,180,101 (GRCm39)	V668L	probably benign	Het
Fcgbp	C	T	7: 27,791,277 (GRCm39)	T846I	probably damaging	Het
Fhod3	A	G	18: 25,153,772 (GRCm39)	E418G	probably damaging	Het
Fryl	G	A	5: 73,238,346 (GRCm39)	R1467C	possibly damaging	Het
Gas2l3	A	G	10: 89,249,558 (GRCm39)	I520T	probably benign	Het
Gfod1	A	G	13: 43,354,280 (GRCm39)	C232R	probably benign	Het
Gpr61	T	C	3: 108,057,555 (GRCm39)	R369G	probably benign	Het
Hk1	T	C	10: 62,122,429 (GRCm39)	Y423C	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,635,580 (GRCm39)	R79G	probably benign	Het
Kcnn4	T	A	7: 24,076,934 (GRCm39)	V161E	probably damaging	Het
Kif15	T	A	9: 122,833,706 (GRCm39)	I1040N	probably damaging	Het
Kif2b	A	G	11: 91,466,654 (GRCm39)	L543S	probably damaging	Het
Kpna2	A	G	11: 106,883,489 (GRCm39)	I81T	probably benign	Het
Krt12	A	G	11: 99,307,757 (GRCm39)	S444P	probably benign	Het
Lmnb2	C	T	10: 80,742,005 (GRCm39)	V29M	probably benign	Het
Lmod2	T	C	6: 24,603,364 (GRCm39)	V113A	probably benign	Het
Lrp1b	T	C	2: 41,231,838 (GRCm39)	T1211A		Het
Lrrc8d	T	C	5: 105,961,959 (GRCm39)	S790P	probably damaging	Het
Map3k4	A	G	17: 12,482,878 (GRCm39)	V613A	probably damaging	Het
Marveld2	T	C	13: 100,748,653 (GRCm39)	N142S	probably benign	Het
Mgll	G	A	6: 88,802,690 (GRCm39)	V282I	possibly damaging	Het
Mief2	G	A	11: 60,622,314 (GRCm39)	E295K	probably damaging	Het
Mmrn2	A	T	14: 34,120,567 (GRCm39)	H479L	probably benign	Het
Myh15	T	A	16: 48,913,118 (GRCm39)	N358K	probably benign	Het
Mzf1	T	G	7: 12,787,005 (GRCm39)	K101Q	probably damaging	Het
Ncbp3	T	A	11: 72,964,253 (GRCm39)	L401Q	probably damaging	Het
Nck2	T	C	1: 43,593,503 (GRCm39)	C237R	possibly damaging	Het
Nlrp9a	T	G	7: 26,273,291 (GRCm39)	N976K	possibly damaging	Het
Nol11	A	G	11: 107,064,240 (GRCm39)	V524A	probably benign	Het
Nol11	T	C	11: 107,069,857 (GRCm39)	Y331C	possibly damaging	Het
Nsmf	A	T	2: 24,952,622 (GRCm39)	H149L	probably benign	Het
Olfm3	T	C	3: 114,914,582 (GRCm39)	V231A	probably benign	Het
Or1l4b	A	T	2: 37,036,646 (GRCm39)	M141L	probably benign	Het
Or51a6	A	G	7: 102,604,446 (GRCm39)	S121P	probably benign	Het
Or55b4	T	C	7: 102,133,931 (GRCm39)	Y132C	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,739 (GRCm39)	F178Y	probably damaging	Het
Plk2	T	A	13: 110,532,920 (GRCm39)	S160R	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1cc	A	G	5: 122,306,279 (GRCm39)	N33D	probably benign	Het
Ptpn23	T	C	9: 110,218,693 (GRCm39)	E499G	possibly damaging	Het
Pwp1	A	G	10: 85,720,431 (GRCm39)	H356R	probably benign	Het
Rbsn	G	T	6: 92,171,000 (GRCm39)	T307K	probably benign	Het
Rnf19a	G	A	15: 36,265,615 (GRCm39)	Q161*	probably null	Het
Scin	T	C	12: 40,134,336 (GRCm39)	D236G	possibly damaging	Het
Setd1a	G	A	7: 127,385,558 (GRCm39)	R755H	possibly damaging	Het
Sik3	C	T	9: 46,123,735 (GRCm39)	T1178I	probably benign	Het
Slc49a3	A	G	5: 108,590,103 (GRCm39)	L433P	probably damaging	Het
Tex26	C	T	5: 149,393,826 (GRCm39)	R272C	probably damaging	Het
Trim60	T	A	8: 65,453,465 (GRCm39)	K261N	possibly damaging	Het
Ttn	T	A	2: 76,588,833 (GRCm39)	Y21412F	probably damaging	Het
Ttn	A	T	2: 76,710,907 (GRCm39)	I8409N	unknown	Het
Unc80	T	C	1: 66,645,816 (GRCm39)		probably null	Het
Ush2a	A	T	1: 187,995,457 (GRCm39)	Q76L	probably benign	Het
Usp1	G	A	4: 98,819,389 (GRCm39)	V284I	probably benign	Het
Usp31	A	G	7: 121,306,466 (GRCm39)	V4A	probably benign	Het
Vmn2r88	G	A	14: 51,648,329 (GRCm39)		probably benign	Het
Zfp959	G	A	17: 56,204,221 (GRCm39)	R86K	probably benign	Het

Other mutations in Tspan9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02447:Tspan9	APN	6	127,941,401 (GRCm39)	missense	probably benign	0.03
IGL02551:Tspan9	APN	6	127,942,726 (GRCm39)	missense	probably null	1.00
IGL03277:Tspan9	APN	6	127,944,038 (GRCm39)	splice site	probably null
R0078:Tspan9	UTSW	6	127,943,448 (GRCm39)	critical splice acceptor site	probably null
R0717:Tspan9	UTSW	6	127,943,343 (GRCm39)	critical splice donor site	probably null
R3978:Tspan9	UTSW	6	127,944,210 (GRCm39)	missense	probably damaging	1.00
R4060:Tspan9	UTSW	6	128,011,135 (GRCm39)	missense	probably benign	0.03
R6944:Tspan9	UTSW	6	127,942,769 (GRCm39)	missense	probably benign	0.31
R7111:Tspan9	UTSW	6	127,942,726 (GRCm39)	missense	probably null	1.00
R7524:Tspan9	UTSW	6	127,942,214 (GRCm39)	missense	probably benign	0.22
R8140:Tspan9	UTSW	6	127,942,241 (GRCm39)	missense	probably damaging	0.99
R9159:Tspan9	UTSW	6	127,943,717 (GRCm39)	missense	possibly damaging	0.83
R9367:Tspan9	UTSW	6	127,944,102 (GRCm39)	missense	probably damaging	1.00
R9405:Tspan9	UTSW	6	127,944,124 (GRCm39)	missense	probably benign	0.00
R9711:Tspan9	UTSW	6	127,942,715 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GCAGGATGATCAACAGCACG -3'
(R):5'- AGAGCTGTGCTGGTCTAACC -3'

Sequencing Primer
(F):5'- ATGGGCAGGGTTTCCAGGC -3'
(R):5'- GTCTAACCAGTTTCTTCTTTCTCCAG -3'

Posted On

2021-11-19