Incidental Mutation 'IGL03218:Tspo'
ID413544
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
Status
Chromosome15
Chromosomal Location83563592-83574203 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 83571430 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
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