Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02122:Tspan32'

280660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tspan32

Ensembl Gene

ENSMUSG00000000244

Gene Name

tetraspanin 32

Synonyms

Tspan32, Art-1, Tssc6, Phemx, D7Wsu37e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02122

Quality Score

Status

Chromosome

Chromosomal Location

142558644-142573223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142569372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 144 (I144F)

Ref Sequence

ENSEMBL: ENSMUSP00000080668 (fasta)

Gene Model

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

AlphaFold

Q9JHH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009396
AA Change: I171F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000009396
Gene: ENSMUSG00000000244
AA Change: I171F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075172
AA Change: I144F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074667
Gene: ENSMUSG00000000244
AA Change: I144F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000082008
AA Change: I144F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080668
Gene: ENSMUSG00000000244
AA Change: I144F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105923
AA Change: I110F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101543
Gene: ENSMUSG00000000244
AA Change: I110F

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: I144F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101544
Gene: ENSMUSG00000000244
AA Change: I144F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105925
AA Change: I110F

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

SMART Domains

Protein: ENSMUSP00000101545
Gene: ENSMUSG00000000244
AA Change: I110F

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: I116F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115344
Gene: ENSMUSG00000000244
AA Change: I116F

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

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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,217,299 (GRCm39)	T756I	possibly damaging	Het
Abi3bp	T	C	16: 56,507,491 (GRCm39)		probably benign	Het
Adcy5	G	A	16: 35,103,982 (GRCm39)		probably benign	Het
Adcy6	T	A	15: 98,496,763 (GRCm39)	H504L	possibly damaging	Het
Ank2	A	G	3: 126,731,523 (GRCm39)		probably benign	Het
Atxn2	A	G	5: 121,916,093 (GRCm39)	D34G	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil1	T	C	13: 24,220,541 (GRCm39)	E657G	possibly damaging	Het
Cdc25c	T	C	18: 34,877,038 (GRCm39)	I212V	probably benign	Het
Chl1	A	G	6: 103,652,098 (GRCm39)	D338G	probably benign	Het
Cog6	T	C	3: 52,905,763 (GRCm39)	I361V	probably benign	Het
Dip2c	T	C	13: 9,556,695 (GRCm39)	S80P	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,008 (GRCm39)	R34S	possibly damaging	Het
Exph5	A	G	9: 53,284,974 (GRCm39)	N685S	probably benign	Het
Flnc	A	T	6: 29,444,335 (GRCm39)	I684L	possibly damaging	Het
Foxk1	T	A	5: 142,437,184 (GRCm39)		probably benign	Het
Gprc6a	T	C	10: 51,502,819 (GRCm39)	N348S	probably benign	Het
Gspt1	T	C	16: 11,047,080 (GRCm39)	K445R	probably damaging	Het
Hace1	T	C	10: 45,494,700 (GRCm39)	V170A	probably damaging	Het
Hydin	T	C	8: 111,221,047 (GRCm39)	I1481T	possibly damaging	Het
Ighv4-1	A	T	12: 113,912,145 (GRCm39)	L36Q	possibly damaging	Het
Ints1	G	A	5: 139,750,905 (GRCm39)	Q833*	probably null	Het
Myo15a	T	C	11: 60,374,292 (GRCm39)	F96L	probably benign	Het
Myom1	G	T	17: 71,399,132 (GRCm39)	R998L	probably damaging	Het
Nacc2	A	G	2: 25,979,960 (GRCm39)	S159P	probably benign	Het
Or5k15	T	C	16: 58,710,134 (GRCm39)	T150A	probably benign	Het
Or5w10	A	G	2: 87,375,447 (GRCm39)	V147A	probably benign	Het
Or7e177	T	A	9: 20,211,880 (GRCm39)	L128Q	probably damaging	Het
Pbrm1	A	G	14: 30,811,573 (GRCm39)	I1197V	probably damaging	Het
Pde4dip	G	A	3: 97,674,737 (GRCm39)	R60C	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pitpnm1	T	C	19: 4,157,796 (GRCm39)	Y499H	probably damaging	Het
Plekhn1	C	T	4: 156,308,313 (GRCm39)		probably null	Het
Prmt8	A	G	6: 127,667,680 (GRCm39)	Y332H	probably benign	Het
Prpf38a	A	G	4: 108,436,238 (GRCm39)	I25T	possibly damaging	Het
Rpf1	T	C	3: 146,227,022 (GRCm39)	K44E	probably benign	Het
Rusc2	T	C	4: 43,421,685 (GRCm39)	F702L	possibly damaging	Het
Ryr2	A	T	13: 11,756,755 (GRCm39)	I1633K	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Tkt	T	C	14: 30,293,158 (GRCm39)	V510A	possibly damaging	Het
Tmem106a	C	A	11: 101,481,240 (GRCm39)	N249K	probably damaging	Het
Tmpo	A	T	10: 90,999,998 (GRCm39)	S157T	possibly damaging	Het
Ufsp2	G	A	8: 46,448,685 (GRCm39)	V429I	probably benign	Het
Unc13c	T	A	9: 73,641,679 (GRCm39)		probably benign	Het
Usp47	A	T	7: 111,706,115 (GRCm39)	K1259M	probably damaging	Het
Zdhhc18	A	T	4: 133,340,946 (GRCm39)		probably benign	Het
Zfp507	G	T	7: 35,475,520 (GRCm39)	L898I	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
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
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

Posted On

2015-04-16