Incidental Mutation 'IGL03218:Tspo'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspo
Ensembl Gene ENSMUSG00000041736
Gene Nametranslocator protein
SynonymsBzrp, PBR, Tspo1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.523) question?
Stock #IGL03218
Quality Score
Chromosomal Location83563592-83574203 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 83571430 bp
Amino Acid Change Valine to Glutamic Acid at position 6 (V6E)
Ref Sequence ENSEMBL: ENSMUSP00000037039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016901] [ENSMUST00000047419] [ENSMUST00000136066] [ENSMUST00000208463]
PDB Structure
Solution structure of the mitochondrial translocator protein (TSPO) in complex with its high-affinity ligand PK11195 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000016901
SMART Domains Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757

low complexity region 66 83 N/A INTRINSIC
Pfam:TTL 341 637 7.4e-78 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000047419
AA Change: V6E

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037039
Gene: ENSMUSG00000041736
AA Change: V6E

Pfam:TspO_MBR 9 157 1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136066
SMART Domains Protein: ENSMUSP00000117161
Gene: ENSMUSG00000016757

low complexity region 46 60 N/A INTRINSIC
low complexity region 66 79 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000208463
AA Change: V6E

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in the male reproductive system exhibit normal testicular development, reproduction and testosterone production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,484,663 probably null Het
Acot9 T A X: 155,295,211 V251E possibly damaging Het
Agtpbp1 A G 13: 59,500,207 S600P possibly damaging Het
Amfr A T 8: 94,000,336 M157K probably damaging Het
Arvcf T C 16: 18,404,125 probably benign Het
Ascc3 T C 10: 50,823,853 V1924A possibly damaging Het
Atp10a T A 7: 58,788,448 probably null Het
Atp1a2 T A 1: 172,289,303 E249V probably null Het
C1qc A G 4: 136,890,287 L166P probably damaging Het
Col4a3 C A 1: 82,643,206 probably benign Het
Def8 A G 8: 123,456,436 D258G probably damaging Het
Dll1 T C 17: 15,373,568 D179G probably benign Het
Dnah14 C A 1: 181,755,269 H3124Q probably benign Het
Fabp5 T A 3: 10,014,963 probably benign Het
Fam133b C T 5: 3,554,684 Q24* probably null Het
Fam13c A C 10: 70,448,769 D25A possibly damaging Het
Flna A G X: 74,234,602 probably null Het
Frem1 T A 4: 82,914,646 T1917S probably benign Het
Frmd4b T C 6: 97,308,114 T337A probably benign Het
Fxyd7 C T 7: 31,044,570 probably null Het
Galnt5 T G 2: 57,999,389 S334A possibly damaging Het
Gm10220 T C 5: 26,118,698 K117R probably damaging Het
Gpd2 T A 2: 57,307,054 L207H probably damaging Het
H2-M10.3 T A 17: 36,367,387 Y182F probably damaging Het
Itga8 T C 2: 12,111,025 I1018V possibly damaging Het
Letmd1 T C 15: 100,469,828 F89S probably damaging Het
Mcm3ap A G 10: 76,482,733 Y696C probably damaging Het
Mcpt9 A G 14: 56,027,451 Y198H probably damaging Het
Mmp1b A G 9: 7,387,907 V29A probably benign Het
Myom1 A G 17: 71,084,316 D940G possibly damaging Het
Myzap A G 9: 71,555,589 M225T probably benign Het
Naa25 A G 5: 121,426,070 Y516C probably damaging Het
Nsdhl T A X: 72,956,446 probably benign Het
Olfml1 A G 7: 107,571,269 E121G possibly damaging Het
Olfr1085 A G 2: 86,658,359 I33T probably benign Het
Olfr1245 A G 2: 89,575,591 V45A probably benign Het
Olfr736 A T 14: 50,393,658 M301L probably damaging Het
Phex C T X: 157,178,787 G636E probably damaging Het
Pkd2l2 A T 18: 34,430,320 I475F probably damaging Het
Polr2b T A 5: 77,315,917 S54T probably benign Het
Prkx A T X: 77,786,200 L85Q probably damaging Het
Smc1b A T 15: 85,089,713 I914N probably benign Het
Susd2 A G 10: 75,642,625 L39P probably benign Het
Teddm2 C T 1: 153,851,024 V35I probably benign Het
Vps41 G T 13: 18,829,270 V353F possibly damaging Het
Wfdc18 T A 11: 83,709,207 probably null Het
Wsb1 C T 11: 79,248,498 S124N probably damaging Het
Zfp445 T C 9: 122,857,529 E177G probably benign Het
Zfp759 G T 13: 67,139,416 V344L probably benign Het
Other mutations in Tspo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02624:Tspo APN 15 83571415 start codon destroyed probably null 0.99
R5952:Tspo UTSW 15 83572240 missense possibly damaging 0.52
R6176:Tspo UTSW 15 83573806 missense probably benign
R7252:Tspo UTSW 15 83572265 missense probably damaging 1.00
R8002:Tspo UTSW 15 83571439 missense probably benign 0.01
Posted On2016-08-02