Incidental Mutation 'IGL01466:Tspan32'
ID88121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan32
Ensembl Gene ENSMUSG00000000244
Gene Nametetraspanin 32
SynonymsArt-1, Tssc6, Phemx, Tspan32, D7Wsu37e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01466
Quality Score
Status
Chromosome7
Chromosomal Location143005046-143019644 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 143014954 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009396] [ENSMUST00000075172] [ENSMUST00000082008] [ENSMUST00000105923] [ENSMUST00000105924] [ENSMUST00000105925] [ENSMUST00000143512] [ENSMUST00000145212] [ENSMUST00000207211]
Predicted Effect probably benign
Transcript: ENSMUST00000009396
SMART Domains Protein: ENSMUSP00000009396
Gene: ENSMUSG00000000244

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 223 3.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075172
SMART Domains Protein: ENSMUSP00000074667
Gene: ENSMUSG00000000244

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 198 3.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000082008
SMART Domains Protein: ENSMUSP00000080668
Gene: ENSMUSG00000000244

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 148 1.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105925
SMART Domains Protein: ENSMUSP00000101545
Gene: ENSMUSG00000000244

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 65 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143512
SMART Domains Protein: ENSMUSP00000115344
Gene: ENSMUSG00000000244

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
transmembrane domain 146 168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145212
SMART Domains Protein: ENSMUSP00000116212
Gene: ENSMUSG00000000244

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154264
Predicted Effect probably benign
Transcript: ENSMUST00000207211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207449
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr A G 15: 89,573,994 N293D probably benign Het
Ankrd49 A G 9: 14,781,349 L173P probably damaging Het
Ccdc152 A G 15: 3,293,847 probably benign Het
Cdh3 G T 8: 106,536,595 R92L possibly damaging Het
Dnajc10 A T 2: 80,321,287 R137S probably benign Het
Dusp27 T G 1: 166,100,504 D513A probably damaging Het
Htra2 A G 6: 83,054,323 L35P probably damaging Het
Il23r A T 6: 67,426,642 M425K probably benign Het
Nfkb2 G T 19: 46,308,016 R241L probably damaging Het
Nup205 A G 6: 35,199,959 D630G probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Peli2 T C 14: 48,256,457 Y379H probably damaging Het
Plekhg6 G T 6: 125,372,624 probably benign Het
Samd14 G T 11: 95,023,255 probably benign Het
Setd7 A T 3: 51,521,309 *367R probably null Het
Slc26a8 A G 17: 28,654,948 V355A probably benign Het
Slc46a2 T A 4: 59,911,926 K429* probably null Het
Unc80 T C 1: 66,622,486 V1690A probably benign Het
Ush2a C A 1: 188,911,622 Q4394K probably benign Het
Zfp277 C A 12: 40,378,826 G174V probably benign Het
Other mutations in Tspan32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02122:Tspan32 APN 7 143015635 missense probably damaging 0.99
IGL02830:Tspan32 APN 7 143017592 missense possibly damaging 0.93
theron UTSW 7 143017591 missense probably benign 0.37
R0594:Tspan32 UTSW 7 143015610 missense probably damaging 0.98
R1162:Tspan32 UTSW 7 143006998 missense probably damaging 1.00
R1317:Tspan32 UTSW 7 143017591 missense probably benign 0.37
R1513:Tspan32 UTSW 7 143005149 missense probably null 0.05
R2941:Tspan32 UTSW 7 143014992 missense probably damaging 1.00
R3953:Tspan32 UTSW 7 143006998 missense probably damaging 1.00
R3955:Tspan32 UTSW 7 143006998 missense probably damaging 1.00
R3957:Tspan32 UTSW 7 143006998 missense probably damaging 1.00
R5021:Tspan32 UTSW 7 143014978 missense probably damaging 1.00
R5849:Tspan32 UTSW 7 143015587 missense probably damaging 1.00
R6429:Tspan32 UTSW 7 143018742 missense possibly damaging 0.59
R7205:Tspan32 UTSW 7 143005126 missense possibly damaging 0.66
Posted On2013-11-18