Mutagenetix > Incidental Mutation

Incidental Mutation 'R1317:Tspan32'

157566

Institutional Source

Beutler Lab

Gene Symbol

Tspan32

Ensembl Gene

ENSMUSG00000000244

Gene Name

tetraspanin 32

Synonyms

Tspan32, Art-1, Tssc6, Phemx, D7Wsu37e

MMRRC Submission

039383-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1317 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142558644-142573223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142571328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 159 (M159V)

Ref Sequence

ENSEMBL: ENSMUSP00000115344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009396] [ENSMUST00000075172] [ENSMUST00000082008] [ENSMUST00000105923] [ENSMUST00000105924] [ENSMUST00000105925] [ENSMUST00000143512] [ENSMUST00000207211] [ENSMUST00000145212]

AlphaFold

Q9JHH2

Predicted Effect

probably benign
Transcript: ENSMUST00000009396
AA Change: M214V

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000009396
Gene: ENSMUSG00000000244
AA Change: M214V

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	223	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075172
AA Change: M187V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000074667
Gene: ENSMUSG00000000244
AA Change: M187V

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	198	3.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082008
AA Change: M159V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000080668
Gene: ENSMUSG00000000244
AA Change: M159V

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	146	7.1e-13	PFAM
transmembrane domain	155	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105923
AA Change: M125V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101543
Gene: ENSMUSG00000000244
AA Change: M125V

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC
transmembrane domain	121	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105924

SMART Domains

Protein: ENSMUSP00000101544
Gene: ENSMUSG00000000244

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	148	1.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105925

SMART Domains

Protein: ENSMUSP00000101545
Gene: ENSMUSG00000000244

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	65	87	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133630

Predicted Effect

probably benign
Transcript: ENSMUST00000143512
AA Change: M159V

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115344
Gene: ENSMUSG00000000244
AA Change: M159V

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	146	168	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207211
AA Change: M99V

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154264

Predicted Effect

probably benign
Transcript: ENSMUST00000145212

SMART Domains

Protein: ENSMUSP00000116212
Gene: ENSMUSG00000000244

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.7%
20x: 84.9%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap null mutation exhibit normal hematopoiesis, hemolytic and granulopoitic responses. B cells exhibit normal proliferative responses while T cells demonstrate enhanced proliferation upon T cell receptor stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,672 (GRCm39)	H1268Y	possibly damaging	Het
Afdn	A	G	17: 14,066,535 (GRCm39)	T576A	probably benign	Het
Bcl6	G	T	16: 23,796,292 (GRCm39)	A45D	probably damaging	Het
Ccdc7b	A	T	8: 129,863,127 (GRCm39)	H223L	probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cryba2	G	T	1: 74,929,835 (GRCm39)		probably null	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gm9602	T	A	14: 15,932,645 (GRCm39)	I28N	probably damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gpr156	T	C	16: 37,807,929 (GRCm39)	L192P	probably damaging	Het
Hnrnpu	G	A	1: 178,157,822 (GRCm39)		probably benign	Het
Ifi209	A	G	1: 173,465,029 (GRCm39)	D53G	possibly damaging	Het
Irf6	G	A	1: 192,851,609 (GRCm39)	R400H	probably damaging	Het
Jag2	T	A	12: 112,878,121 (GRCm39)	M537L	probably benign	Het
Mid1	A	C	X: 168,769,090 (GRCm39)	N215H	probably damaging	Het
Mt1	T	C	8: 94,906,781 (GRCm39)		probably benign	Het
Myo15b	C	A	11: 115,774,460 (GRCm39)	P2024Q	probably null	Het
Nphs1	C	T	7: 30,181,256 (GRCm39)		probably benign	Het
Rbm27	G	A	18: 42,457,116 (GRCm39)		probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Slc25a23	T	C	17: 57,360,888 (GRCm39)	K179E	possibly damaging	Het
Smad5	T	C	13: 56,883,884 (GRCm39)		probably benign	Het
Tom1	T	C	8: 75,778,179 (GRCm39)	V87A	probably benign	Het
Trim30b	T	A	7: 104,006,542 (GRCm39)	T105S	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Zbtb1	A	G	12: 76,433,573 (GRCm39)	S520G	probably benign	Het
Zdhhc7	T	A	8: 120,811,639 (GRCm39)	H188L	probably benign	Het

Other mutations in Tspan32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01466:Tspan32	APN	7	142,568,691 (GRCm39)	intron	probably benign
IGL02122:Tspan32	APN	7	142,569,372 (GRCm39)	missense	probably damaging	0.99
IGL02830:Tspan32	APN	7	142,571,329 (GRCm39)	missense	possibly damaging	0.93
theron	UTSW	7	142,571,328 (GRCm39)	missense	probably benign	0.37
R0594:Tspan32	UTSW	7	142,569,347 (GRCm39)	missense	probably damaging	0.98
R1162:Tspan32	UTSW	7	142,560,735 (GRCm39)	missense	probably damaging	1.00
R1513:Tspan32	UTSW	7	142,558,886 (GRCm39)	missense	probably null	0.05
R2941:Tspan32	UTSW	7	142,568,729 (GRCm39)	missense	probably damaging	1.00
R3953:Tspan32	UTSW	7	142,560,735 (GRCm39)	missense	probably damaging	1.00
R3955:Tspan32	UTSW	7	142,560,735 (GRCm39)	missense	probably damaging	1.00
R3957:Tspan32	UTSW	7	142,560,735 (GRCm39)	missense	probably damaging	1.00
R5021:Tspan32	UTSW	7	142,568,715 (GRCm39)	missense	probably damaging	1.00
R5849:Tspan32	UTSW	7	142,569,324 (GRCm39)	missense	probably damaging	1.00
R6429:Tspan32	UTSW	7	142,572,479 (GRCm39)	missense	possibly damaging	0.59
R7205:Tspan32	UTSW	7	142,558,863 (GRCm39)	missense	possibly damaging	0.66
R7756:Tspan32	UTSW	7	142,570,959 (GRCm39)	missense	probably benign	0.32
R8218:Tspan32	UTSW	7	142,564,832 (GRCm39)	missense	probably benign	0.03
R8412:Tspan32	UTSW	7	142,559,695 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGAGCAAACCATGCAGCTCC -3'
(R):5'- TTCCAGGGCAGAGGTAACACATCG -3'

Sequencing Primer
(F):5'- TTCCCAGGTAGAAGCAGTCC -3'
(R):5'- CGGTGGTGGGAGAGAAAGATAC -3'

Posted On

2014-02-18