Mutagenetix > Incidental Mutation

Incidental Mutation 'R0078:Tspan9'

19541

Institutional Source

Beutler Lab

Gene Symbol

Tspan9

Ensembl Gene

ENSMUSG00000030352

Gene Name

tetraspanin 9

Synonyms

6720474K14Rik, 9430079M16Rik

MMRRC Submission

038365-MU

Accession Numbers

Essential gene?

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

Stock #

R0078 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

127938359-128120541 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 127943448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143827 (fasta)

Gene Model

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

AlphaFold

Q8BJU2

Predicted Effect

probably null
Transcript: ENSMUST00000032503

SMART Domains

Protein: ENSMUSP00000032503
Gene: ENSMUSG00000030352

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

Predicted Effect

probably null
Transcript: ENSMUST00000112171

SMART Domains

Protein: ENSMUSP00000107794
Gene: ENSMUSG00000030352

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

Predicted Effect

probably null
Transcript: ENSMUST00000112173

SMART Domains

Protein: ENSMUSP00000107796
Gene: ENSMUSG00000030352

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

Predicted Effect

probably null
Transcript: ENSMUST00000123786

SMART Domains

Protein: ENSMUSP00000115922
Gene: ENSMUSG00000030352

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 benign
Transcript: ENSMUST00000145940

Predicted Effect

probably null
Transcript: ENSMUST00000146268

SMART Domains

Protein: ENSMUSP00000116142
Gene: ENSMUSG00000030352

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

Predicted Effect

probably null
Transcript: ENSMUST00000154375

SMART Domains

Protein: ENSMUSP00000114763
Gene: ENSMUSG00000030352

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

Predicted Effect

probably null
Transcript: ENSMUST00000202372

SMART Domains

Protein: ENSMUSP00000143827
Gene: ENSMUSG00000030352

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202141

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.2%

Validation Efficiency

81% (203/250)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,891,129 (GRCm39)	Q456L	probably benign	Het
Abcf1	A	G	17: 36,268,954 (GRCm39)		probably benign	Het
Adamts7	A	T	9: 90,061,464 (GRCm39)	S357C	probably damaging	Het
Ankrd26	A	G	6: 118,512,030 (GRCm39)		probably benign	Het
Asb17	T	A	3: 153,550,301 (GRCm39)	V111E	probably damaging	Het
C1qtnf4	C	A	2: 90,719,893 (GRCm39)	N55K	probably damaging	Het
Cacng5	G	T	11: 107,768,259 (GRCm39)	D249E	probably benign	Het
Camkk2	C	A	5: 122,895,622 (GRCm39)		probably null	Het
Ccdc27	T	G	4: 154,120,195 (GRCm39)		probably benign	Het
Cfap251	G	A	5: 123,436,633 (GRCm39)	R1054H	probably benign	Het
Cngb1	T	A	8: 95,991,173 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,803,981 (GRCm39)		probably benign	Het
Corin	T	A	5: 72,611,816 (GRCm39)	D148V	possibly damaging	Het
Cstdc1	T	A	2: 148,627,745 (GRCm39)	*131K	probably null	Het
Defb26	A	C	2: 152,349,988 (GRCm39)	D97E	possibly damaging	Het
Dgkb	A	G	12: 38,186,540 (GRCm39)	N237D	probably benign	Het
Dsp	A	G	13: 38,379,993 (GRCm39)	N1647S	probably benign	Het
Dtna	G	A	18: 23,754,499 (GRCm39)	A438T	probably damaging	Het
Erbb3	G	T	10: 128,419,310 (GRCm39)	F219L	probably damaging	Het
EU599041	G	A	7: 42,875,275 (GRCm39)		noncoding transcript	Het
Fat1	A	G	8: 45,406,336 (GRCm39)	N1029S	probably damaging	Het
Fat4	T	C	3: 38,943,080 (GRCm39)	S658P	probably benign	Het
Fgfr2	C	T	7: 129,802,805 (GRCm39)	D168N	possibly damaging	Het
Fstl5	T	A	3: 76,566,952 (GRCm39)		probably benign	Het
Glmn	C	T	5: 107,705,836 (GRCm39)	V451I	probably benign	Het
Gm9938	T	A	19: 23,701,988 (GRCm39)		probably benign	Het
Gpat2	T	C	2: 127,270,169 (GRCm39)	S61P	probably damaging	Het
Gpr22	T	A	12: 31,761,640 (GRCm39)	M6L	probably benign	Het
Grm5	T	C	7: 87,724,185 (GRCm39)	L825P	probably damaging	Het
Gstz1	A	T	12: 87,206,477 (GRCm39)	I66F	probably benign	Het
H2-T22	A	G	17: 36,351,501 (GRCm39)	V243A	probably damaging	Het
H2-T5	A	T	17: 36,476,353 (GRCm39)	S304T	possibly damaging	Het
Hivep1	C	T	13: 42,309,517 (GRCm39)	L586F	probably damaging	Het
Hmcn2	T	G	2: 31,278,356 (GRCm39)	L1686R	probably damaging	Het
Ice1	T	C	13: 70,751,467 (GRCm39)	R1540G	probably damaging	Het
Igha	T	A	12: 113,223,547 (GRCm39)		probably benign	Het
Kif3a	C	A	11: 53,469,812 (GRCm39)	T141K	probably benign	Het
Knl1	G	A	2: 118,900,373 (GRCm39)	M691I	probably benign	Het
L3mbtl1	T	C	2: 162,789,146 (GRCm39)	V13A	probably benign	Het
Lamc1	T	A	1: 153,104,936 (GRCm39)	N1282I	probably damaging	Het
Lemd2	G	T	17: 27,422,702 (GRCm39)	L231I	probably benign	Het
Lrrk2	G	A	15: 91,618,212 (GRCm39)	V904M	probably benign	Het
Lyzl6	C	T	11: 103,524,795 (GRCm39)	S103N	probably benign	Het
Macf1	T	A	4: 123,367,661 (GRCm39)	R2367W	probably damaging	Het
Mapk3	T	C	7: 126,358,977 (GRCm39)	Y54H	probably damaging	Het
Mlh3	A	T	12: 85,315,592 (GRCm39)	V198D	probably damaging	Het
Myocd	T	C	11: 65,078,290 (GRCm39)	S374G	possibly damaging	Het
Ngef	T	C	1: 87,468,387 (GRCm39)	E124G	probably benign	Het
Nhsl3	T	C	4: 129,121,516 (GRCm39)		probably null	Het
Nr4a2	T	C	2: 57,002,240 (GRCm39)	Y8C	probably damaging	Het
Nynrin	T	A	14: 56,100,789 (GRCm39)	V193D	probably damaging	Het
Or10ak9	T	A	4: 118,726,424 (GRCm39)	S148T	probably benign	Het
Or10w1	G	T	19: 13,632,179 (GRCm39)	V129F	probably benign	Het
Or1p1	A	T	11: 74,180,092 (GRCm39)	I207F	probably damaging	Het
Or4k36	A	T	2: 111,146,249 (GRCm39)	I142F	probably benign	Het
Or6d15	A	G	6: 116,559,701 (GRCm39)	S69P	probably damaging	Het
Pcdh18	T	C	3: 49,710,793 (GRCm39)	Y174C	probably damaging	Het
Pcf11	T	C	7: 92,318,767 (GRCm39)	D21G	possibly damaging	Het
Pdia4	A	C	6: 47,775,344 (GRCm39)	F489V	possibly damaging	Het
Pitrm1	C	T	13: 6,625,068 (GRCm39)	P849S	probably damaging	Het
Plcz1	T	C	6: 139,935,510 (GRCm39)	Y644C	probably damaging	Het
Ppp5c	T	C	7: 16,761,650 (GRCm39)	E28G	probably benign	Het
Prkcb	A	G	7: 122,189,393 (GRCm39)	Y507C	probably damaging	Het
Rims2	A	G	15: 39,398,251 (GRCm39)	D1072G	probably benign	Het
Scarf1	A	G	11: 75,405,988 (GRCm39)		probably benign	Het
Scoc	T	A	8: 84,184,887 (GRCm39)		probably null	Het
Sh2d4a	A	T	8: 68,734,973 (GRCm39)	M31L	probably damaging	Het
Spta1	T	A	1: 174,034,598 (GRCm39)		probably benign	Het
Stard7	A	G	2: 127,134,127 (GRCm39)	Y270C	probably damaging	Het
Svs3b	T	C	2: 164,097,881 (GRCm39)	T147A	probably benign	Het
Tmtc3	A	G	10: 100,284,823 (GRCm39)	L604P	probably damaging	Het
Trim30b	A	T	7: 104,015,102 (GRCm39)	N95K	probably benign	Het
Trpm8	C	A	1: 88,255,870 (GRCm39)		probably benign	Het
Tubgcp5	C	T	7: 55,468,643 (GRCm39)	R713C	probably damaging	Het
Tyro3	A	T	2: 119,647,487 (GRCm39)	Q872L	probably damaging	Het
Vmn1r204	G	A	13: 22,740,379 (GRCm39)	M3I	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdfy3	A	G	5: 102,035,971 (GRCm39)	I2149T	possibly damaging	Het
Zfp668	A	T	7: 127,467,210 (GRCm39)	M122K	possibly damaging	Het
Zkscan1	A	T	5: 138,091,363 (GRCm39)	D32V	probably damaging	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
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
R9063:Tspan9	UTSW	6	127,944,072 (GRCm39)	missense	probably damaging	1.00
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'- TCATTCACCACGTTAGGCTCGC -3'
(R):5'- ACATGGACAAGGTAAACCTCGCAG -3'

Sequencing Primer
(F):5'- TCTAGGCAAGTGTCCAGTGC -3'
(R):5'- GAAGGTCGCCATCTTGACAC -3'

Posted On

2013-04-11