Mutagenetix > Incidental Mutation

Incidental Mutation 'R7111:Tspan9'

551508

Institutional Source

Beutler Lab

Gene Symbol

Tspan9

Ensembl Gene

ENSMUSG00000030352

Gene Name

tetraspanin 9

Synonyms

6720474K14Rik, 9430079M16Rik

MMRRC Submission

045203-MU

Accession Numbers

Essential gene?

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

Stock #

R7111 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127938359-128120541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127942726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 167 (D167G)

Ref Sequence

ENSEMBL: ENSMUSP00000143827 (fasta)

Gene Model

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

AlphaFold

Q8BJU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032503
AA Change: D167G

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

SMART Domains

Protein: ENSMUSP00000032503
Gene: ENSMUSG00000030352
AA Change: D167G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112171
AA Change: D167G

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

SMART Domains

Protein: ENSMUSP00000107794
Gene: ENSMUSG00000030352
AA Change: D167G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112173
AA Change: D167G

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

SMART Domains

Protein: ENSMUSP00000107796
Gene: ENSMUSG00000030352
AA Change: D167G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000123786
AA Change: D167G

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

SMART Domains

Protein: ENSMUSP00000115922
Gene: ENSMUSG00000030352
AA Change: D167G

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 benign
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: ENSMUST00000202372
AA Change: D167G

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

SMART Domains

Protein: ENSMUSP00000143827
Gene: ENSMUSG00000030352
AA Change: D167G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202141

Predicted Effect

probably benign
Transcript: ENSMUST00000154375

SMART Domains

Protein: ENSMUSP00000114763
Gene: ENSMUSG00000030352

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

Meta Mutation Damage Score

0.3282

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	G	19: 57,062,309 (GRCm39)	N384T	probably benign	Het
Agap3	A	G	5: 24,706,396 (GRCm39)	Y843C	probably damaging	Het
Aldh9a1	T	A	1: 167,182,021 (GRCm39)	V118E	probably benign	Het
Arhgef26	T	A	3: 62,252,689 (GRCm39)	S414T	possibly damaging	Het
Armc9	T	C	1: 86,087,717 (GRCm39)	Y18H	probably damaging	Het
Bod1l	A	G	5: 41,970,463 (GRCm39)		probably null	Het
Casp1	A	T	9: 5,299,816 (GRCm39)	E96D	probably benign	Het
Ccdc171	A	G	4: 83,611,998 (GRCm39)	I898V	probably benign	Het
Cd79b	T	C	11: 106,205,365 (GRCm39)	I42M	possibly damaging	Het
Cdca7	G	A	2: 72,315,575 (GRCm39)	R346H	probably damaging	Het
Cdh20	T	C	1: 110,065,638 (GRCm39)	S176P		Het
Cdh23	T	A	10: 60,222,823 (GRCm39)	D1200V	probably damaging	Het
Cdkn1c	T	C	7: 143,014,326 (GRCm39)	D40G	possibly damaging	Het
Ckap5	G	A	2: 91,437,917 (GRCm39)	R1666H	probably damaging	Het
Cxcl1	A	G	5: 91,039,182 (GRCm39)	T5A	unknown	Het
Dnah2	A	C	11: 69,337,579 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,803,028 (GRCm39)	I54M	probably damaging	Het
Ephb3	A	T	16: 21,037,577 (GRCm39)	K500*	probably null	Het
Fam13c	T	A	10: 70,390,336 (GRCm39)	H533Q	probably benign	Het
Fat4	T	A	3: 39,064,682 (GRCm39)	D4879E	probably damaging	Het
Grk6	G	T	13: 55,606,733 (GRCm39)	W511L	probably damaging	Het
Hivep3	G	C	4: 119,952,431 (GRCm39)	S249T	possibly damaging	Het
Iqch	T	A	9: 63,419,599 (GRCm39)	Y496F	possibly damaging	Het
Itga2	T	C	13: 115,037,066 (GRCm39)	I21V	unknown	Het
Itpr2	A	T	6: 146,226,554 (GRCm39)	C1397S	probably damaging	Het
Krt86	A	T	15: 101,374,498 (GRCm39)	Y297F	possibly damaging	Het
Limch1	G	T	5: 67,182,519 (GRCm39)		probably null	Het
Mfsd6	G	T	1: 52,748,917 (GRCm39)		probably null	Het
Mx1	A	G	16: 97,256,376 (GRCm39)	V181A	probably damaging	Het
Nme8	G	A	13: 19,859,817 (GRCm39)	R268W	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or10p1	T	A	10: 129,443,829 (GRCm39)	I174F	possibly damaging	Het
Or5d36	G	A	2: 87,901,000 (GRCm39)	T242I	probably damaging	Het
Pappa2	T	A	1: 158,784,096 (GRCm39)	I305F	probably benign	Het
Pdlim3	A	G	8: 46,370,539 (GRCm39)	K232E	probably damaging	Het
Rcn1	T	C	2: 105,219,359 (GRCm39)	E278G	probably damaging	Het
Ros1	T	C	10: 52,057,906 (GRCm39)	D47G	probably benign	Het
Sema4c	G	A	1: 36,592,160 (GRCm39)	T229M	possibly damaging	Het
Serpina3j	T	A	12: 104,283,792 (GRCm39)	W297R	probably damaging	Het
Serpinb11	A	G	1: 107,304,614 (GRCm39)	E193G	probably benign	Het
Shank2	A	G	7: 143,965,289 (GRCm39)	I966V	probably benign	Het
Siglece	T	C	7: 43,309,327 (GRCm39)	D77G	probably damaging	Het
Sqstm1	G	T	11: 50,093,418 (GRCm39)	Q327K	probably benign	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Styxl2	T	C	1: 165,954,723 (GRCm39)	E9G	possibly damaging	Het
Svep1	A	T	4: 58,118,207 (GRCm39)	D838E	possibly damaging	Het
Tacc2	G	A	7: 130,330,618 (GRCm39)	A191T	probably benign	Het
Tnfrsf18	T	A	4: 156,113,168 (GRCm39)	W285R	probably damaging	Het
Uaca	C	T	9: 60,779,120 (GRCm39)	T1169I	probably benign	Het
Umod	G	T	7: 119,076,369 (GRCm39)	Y132*	probably null	Het
Vmn2r31	A	G	7: 7,399,480 (GRCm39)	F159S	probably damaging	Het
Vmn2r82	C	T	10: 79,214,605 (GRCm39)	T196I	probably benign	Het
Wrap53	A	T	11: 69,453,305 (GRCm39)	W379R	probably damaging	Het
Zfp866	A	T	8: 70,219,221 (GRCm39)	V133D	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
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'- GTGAGTCCTGCACATACGTG -3'
(R):5'- AGAGTCACTCACTACCTCTGG -3'

Sequencing Primer
(F):5'- CATACGTGCATGTGTACACAC -3'
(R):5'- ACTCACTACCTCTGGGGGCC -3'

Posted On

2019-05-15