Mutagenetix > Incidental Mutation

Incidental Mutation 'R5021:Tspan32'

389194

Institutional Source

Beutler Lab

Gene Symbol

Tspan32

Ensembl Gene

ENSMUSG00000000244

Gene Name

tetraspanin 32

Synonyms

Tspan32, Art-1, Tssc6, Phemx, D7Wsu37e

MMRRC Submission

042612-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5021 (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 142568715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 70 (D70G)

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 damaging
Transcript: ENSMUST00000009396
AA Change: D125G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000009396
Gene: ENSMUSG00000000244
AA Change: D125G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075172
AA Change: D98G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074667
Gene: ENSMUSG00000000244
AA Change: D98G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000082008
AA Change: D98G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080668
Gene: ENSMUSG00000000244
AA Change: D98G

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

SMART Domains

Protein: ENSMUSP00000101543
Gene: ENSMUSG00000000244

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 damaging
Transcript: ENSMUST00000105924
AA Change: D98G

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

SMART Domains

Protein: ENSMUSP00000101544
Gene: ENSMUSG00000000244
AA Change: D98G

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

probably damaging
Transcript: ENSMUST00000143512
AA Change: D70G

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

SMART Domains

Protein: ENSMUSP00000115344
Gene: ENSMUSG00000000244
AA Change: D70G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207449

Predicted Effect

probably benign
Transcript: ENSMUST00000207211

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

0.4984

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.8%

Validation Efficiency

95% (39/41)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano5	A	T	7: 51,205,933 (GRCm39)	T242S	probably benign	Het
B3gnt4	G	C	5: 123,649,010 (GRCm39)	R125P	probably damaging	Het
Blvrb	A	C	7: 27,147,543 (GRCm39)	M1L	probably benign	Het
Cep112	T	A	11: 108,361,154 (GRCm39)	H169Q	possibly damaging	Het
Clcn1	A	T	6: 42,287,922 (GRCm39)	K718*	probably null	Het
Clhc1	A	G	11: 29,510,627 (GRCm39)	N226S	probably benign	Het
Cpne1	T	C	2: 155,940,193 (GRCm39)		probably benign	Het
Cspg4	G	A	9: 56,805,014 (GRCm39)	V1942I	probably benign	Het
Decr2	A	T	17: 26,301,980 (GRCm39)	L250Q	probably damaging	Het
Depdc5	A	G	5: 33,136,758 (GRCm39)	T1343A	probably damaging	Het
Eed	A	T	7: 89,621,513 (GRCm39)	L45M	probably damaging	Het
Ep300	T	A	15: 81,524,224 (GRCm39)	S1351T	unknown	Het
Fam184b	T	A	5: 45,730,604 (GRCm39)	Q476L	probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Ift122	A	G	6: 115,841,333 (GRCm39)	D39G	probably benign	Het
Igf2bp1	A	G	11: 95,864,832 (GRCm39)	Y206H	probably damaging	Het
Ighv1-19	T	C	12: 114,672,686 (GRCm39)	I6V	probably benign	Het
Itm2c	T	C	1: 85,833,059 (GRCm39)	I131T	probably damaging	Het
Kcnd3	A	T	3: 105,566,070 (GRCm39)	D417V	probably damaging	Het
Klf4	T	C	4: 55,530,970 (GRCm39)	E38G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lct	T	C	1: 128,228,302 (GRCm39)	M1064V	probably benign	Het
Map4	C	T	9: 109,867,157 (GRCm39)	Q265*	probably null	Het
Mcf2l	T	G	8: 13,061,808 (GRCm39)	V893G	probably damaging	Het
Mlst8	C	T	17: 24,696,193 (GRCm39)	D179N	possibly damaging	Het
Mup6	T	A	4: 59,964,352 (GRCm39)	N18K	probably damaging	Het
Nbeal2	G	A	9: 110,466,531 (GRCm39)	R764W	probably damaging	Het
Ncoa6	A	T	2: 155,248,869 (GRCm39)	S1478R	probably benign	Het
Pcdhga1	C	A	18: 37,796,876 (GRCm39)	R627S	probably damaging	Het
Sacm1l	A	G	9: 123,411,393 (GRCm39)	D394G	probably damaging	Het
Schip1	A	G	3: 68,402,585 (GRCm39)	T221A	probably benign	Het
Slc35c1	A	G	2: 92,289,366 (GRCm39)	Y47H	possibly damaging	Het
Vmn2r68	T	C	7: 84,882,942 (GRCm39)	Y270C	possibly damaging	Het
Zfp777	A	G	6: 48,019,061 (GRCm39)	V291A	probably damaging	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
R1317:Tspan32	UTSW	7	142,571,328 (GRCm39)	missense	probably benign	0.37
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
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'- TACCCAGAAGCTACCACTGAGG -3'
(R):5'- TCTGAGACCTCCTCTTGAAGCC -3'

Sequencing Primer
(F):5'- GGTAGCTAAGTTCTGCTGACCTC -3'
(R):5'- CTCTTGAAGCCTTGCCAGGATG -3'

Posted On

2016-06-06