Incidental Mutation 'R3955:Tspan32'
ID 310651
Institutional Source Beutler Lab
Gene Symbol Tspan32
Ensembl Gene ENSMUSG00000000244
Gene Name tetraspanin 32
Synonyms Tspan32, Art-1, Tssc6, Phemx, D7Wsu37e
MMRRC Submission 040832-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3955 (G1)
Quality Score 211
Status Validated
Chromosome 7
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 65 87 N/A INTRINSIC
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131740
Meta Mutation Damage Score 0.6687 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (56/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,834 (GRCm39) T1008A probably benign Het
Abcc5 G C 16: 20,224,293 (GRCm39) H97D probably damaging Het
Acbd7 T C 2: 3,337,250 (GRCm39) S2P probably benign Het
Acta2 G T 19: 34,229,126 (GRCm39) probably benign Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Ajm1 G T 2: 25,467,583 (GRCm39) S776* probably null Het
Ccnq C A 11: 78,641,849 (GRCm39) E214* probably null Het
Cd69 A T 6: 129,245,343 (GRCm39) probably null Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dscc1 T C 15: 54,946,949 (GRCm39) T259A probably benign Het
Dsg4 G A 18: 20,582,432 (GRCm39) probably null Het
Igfn1 A G 1: 135,894,918 (GRCm39) Y1883H possibly damaging Het
Insyn1 A T 9: 58,406,906 (GRCm39) D272V probably damaging Het
Krt20 G A 11: 99,323,037 (GRCm39) Q262* probably null Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lmod2 G T 6: 24,603,870 (GRCm39) V282L probably benign Het
Lrrc49 A G 9: 60,578,642 (GRCm39) I228T probably damaging Het
Matn1 G A 4: 130,678,726 (GRCm39) probably null Het
Nek7 C A 1: 138,462,127 (GRCm39) C79F probably damaging Het
Nmt2 A G 2: 3,313,535 (GRCm39) D132G probably benign Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Obscn G A 11: 58,927,594 (GRCm39) S6118F probably damaging Het
Or14j6 A T 17: 38,214,500 (GRCm39) H21L probably benign Het
Or1j21 T A 2: 36,683,565 (GRCm39) L106M probably benign Het
Or4c12 T A 2: 89,774,172 (GRCm39) M96L possibly damaging Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Plxnb3 T C X: 72,814,826 (GRCm39) V1789A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Qrfprl A T 6: 65,430,092 (GRCm39) I263L possibly damaging Het
Rab3gap1 A G 1: 127,862,254 (GRCm39) Q675R probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Sergef T A 7: 46,268,176 (GRCm39) E210V possibly damaging Het
Sik3 C A 9: 46,109,891 (GRCm39) N541K probably damaging Het
Slc26a1 T C 5: 108,821,448 (GRCm39) D147G possibly damaging Het
Tbc1d14 G A 5: 36,700,559 (GRCm39) R270* probably null Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tdp2 C T 13: 25,020,082 (GRCm39) T123I probably benign Het
Tec T C 5: 72,939,520 (GRCm39) probably null Het
Tmf1 C A 6: 97,153,167 (GRCm39) R302L probably damaging Het
Tnip3 A T 6: 65,574,379 (GRCm39) T137S possibly damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Unc13b A G 4: 43,256,834 (GRCm39) Y3962C probably damaging Het
Vmn2r95 T A 17: 18,660,358 (GRCm39) Y257N possibly damaging Het
Zfp677 A G 17: 21,618,079 (GRCm39) K379E possibly damaging Het
Zfp865 T A 7: 5,035,013 (GRCm39) D999E probably damaging Het
Other mutations in Tspan32
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AAGGTCAGTTCTAGCTCTGTG -3'
(R):5'- GAGGGTCCTGATTGAGCAAG -3'

Sequencing Primer
(F):5'- GCTCTGTGACTCCCAAAGTAGATAG -3'
(R):5'- TCCTGATTGAGCAAGTGGAAGGTC -3'
Posted On 2015-04-29