Mutagenetix > Incidental Mutation

Incidental Mutation 'R1162:Tspan32'

100474

Institutional Source

Beutler Lab

Gene Symbol

Tspan32

Ensembl Gene

ENSMUSG00000000244

Gene Name

tetraspanin 32

Synonyms

Tspan32, Art-1, Tssc6, Phemx, D7Wsu37e

MMRRC Submission

039235-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142558644-142573223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142560735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 61 (M61K)

Ref Sequence

ENSEMBL: ENSMUSP00000115344 (fasta)

Gene Model

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

AlphaFold

Q9JHH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009396
AA Change: M91K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000009396
Gene: ENSMUSG00000000244
AA Change: M91K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075172
AA Change: M64K

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074667
Gene: ENSMUSG00000000244
AA Change: M64K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082008
AA Change: M64K

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080668
Gene: ENSMUSG00000000244
AA Change: M64K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105923
AA Change: M64K

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101543
Gene: ENSMUSG00000000244
AA Change: M64K

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: M64K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101544
Gene: ENSMUSG00000000244
AA Change: M64K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105925
AA Change: M64K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101545
Gene: ENSMUSG00000000244
AA Change: M64K

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: ENSMUST00000131740

Predicted Effect

probably damaging
Transcript: ENSMUST00000143512
AA Change: M61K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115344
Gene: ENSMUSG00000000244
AA Change: M61K

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: ENSMUST00000141186

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145212
AA Change: M64K

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116212
Gene: ENSMUSG00000000244
AA Change: M64K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207211
AA Change: M64K

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207449

Meta Mutation Damage Score

0.6687

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.9%

Validation Efficiency

98% (55/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	C	4: 156,206,875 (GRCm39)		probably null	Het
Adamts12	T	A	15: 11,277,544 (GRCm39)		probably null	Het
Ccn3	T	A	15: 54,611,178 (GRCm39)	C104*	probably null	Het
Cops4	T	C	5: 100,678,023 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dgkh	A	G	14: 78,861,891 (GRCm39)	C125R	probably damaging	Het
Dgkz	A	T	2: 91,774,789 (GRCm39)	I65N	probably damaging	Het
Dock10	T	A	1: 80,546,559 (GRCm39)	H743L	possibly damaging	Het
Dscaml1	T	C	9: 45,663,647 (GRCm39)		probably benign	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gbe1	A	T	16: 70,178,738 (GRCm39)		probably benign	Het
Gm7275	A	G	16: 47,894,395 (GRCm39)		noncoding transcript	Het
Gpatch1	A	G	7: 35,002,905 (GRCm39)		probably benign	Het
Gpr137c	A	G	14: 45,481,615 (GRCm39)	I144V	possibly damaging	Het
Igsf9b	T	C	9: 27,238,185 (GRCm39)	S563P	probably benign	Het
Insl5	C	T	4: 102,875,438 (GRCm39)	R104Q	probably benign	Het
Kcnj2	T	A	11: 110,963,793 (GRCm39)	V395D	probably benign	Het
Ksr2	A	G	5: 117,693,020 (GRCm39)		probably benign	Het
Lrrc4	C	A	6: 28,831,083 (GRCm39)	L177F	probably damaging	Het
Mapkbp1	A	G	2: 119,855,799 (GRCm39)	E1506G	possibly damaging	Het
Morc3	A	C	16: 93,649,996 (GRCm39)	Y259S	probably damaging	Het
Mrpl43	T	G	19: 44,994,797 (GRCm39)	S13R	possibly damaging	Het
Myh4	A	G	11: 67,149,439 (GRCm39)	N1724D	probably damaging	Het
Nab1	A	G	1: 52,529,186 (GRCm39)	M237T	probably damaging	Het
Nav2	A	G	7: 49,185,788 (GRCm39)		probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2h15	A	T	17: 38,441,984 (GRCm39)	V33D	possibly damaging	Het
Or5ac15	T	C	16: 58,939,735 (GRCm39)	R233G	probably damaging	Het
Or5p80	A	G	7: 108,230,120 (GRCm39)	N307S	probably benign	Het
Phf2	A	T	13: 48,973,117 (GRCm39)		probably benign	Het
Ppef2	A	C	5: 92,400,980 (GRCm39)	F13L	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Sap130	C	T	18: 31,781,226 (GRCm39)	P130S	probably damaging	Het
Scn11a	A	G	9: 119,634,710 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,506,087 (GRCm39)	E940*	probably null	Het
Sgce	A	G	6: 4,691,419 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,600 (GRCm39)	I155N	probably damaging	Het
Sirt2	A	T	7: 28,485,247 (GRCm39)	D218V	probably damaging	Het
Slc16a10	T	C	10: 39,952,549 (GRCm39)	H315R	probably benign	Het
Sox5	A	G	6: 143,906,538 (GRCm39)	Y306H	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tab2	A	G	10: 7,800,483 (GRCm39)	V23A	probably damaging	Het
Trak1	G	T	9: 121,282,407 (GRCm39)	V429F	possibly damaging	Het
Trat1	T	C	16: 48,560,572 (GRCm39)	S102G	possibly damaging	Het
Trub1	G	A	19: 57,461,191 (GRCm39)	V156I	probably benign	Het
Unc13a	T	A	8: 72,100,561 (GRCm39)	T1076S	probably benign	Het
Vangl2	A	G	1: 171,832,414 (GRCm39)	Y481H	probably damaging	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r60	A	T	7: 41,845,195 (GRCm39)	I853F	probably benign	Het
Yrdc	T	C	4: 124,748,254 (GRCm39)		probably benign	Het
Zfp595	A	T	13: 67,465,259 (GRCm39)	C335S	probably damaging	Het
Zfp872	A	G	9: 22,110,910 (GRCm39)	S149G	possibly 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
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
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

Posted On

2014-01-15