Incidental Mutation 'IGL02624:Tspo'
ID 300989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspo
Ensembl Gene ENSMUSG00000041736
Gene Name translocator protein
Synonyms PBR, Tspo1, Bzrp
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # IGL02624
Quality Score
Status
Chromosome 15
Chromosomal Location 83447793-83458404 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 83455616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000146965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016901] [ENSMUST00000047419] [ENSMUST00000136066] [ENSMUST00000208463]
AlphaFold P50637
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 probably null
Transcript: ENSMUST00000047419
AA Change: M1T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037039
Gene: ENSMUSG00000041736
AA Change: M1T

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 probably null
Transcript: ENSMUST00000208463
AA Change: M1T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,032,004 (GRCm39) V38A unknown Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Brk1 T G 6: 113,581,805 (GRCm39) I22M possibly damaging Het
Cd3g A G 9: 44,885,459 (GRCm39) probably null Het
Cep192 T C 18: 68,013,866 (GRCm39) V2422A probably benign Het
Ces2g T C 8: 105,691,380 (GRCm39) V172A probably damaging Het
Clcn2 G T 16: 20,522,098 (GRCm39) S830R probably damaging Het
Cyp26b1 T C 6: 84,561,321 (GRCm39) S114G probably benign Het
Dnali1 T C 4: 124,952,791 (GRCm39) Q244R probably benign Het
Entpd1 A T 19: 40,714,502 (GRCm39) K204* probably null Het
Gm5070 A G 3: 95,318,219 (GRCm39) noncoding transcript Het
Gpsm2 G T 3: 108,589,349 (GRCm39) D596E probably benign Het
Hectd1 C T 12: 51,809,233 (GRCm39) A1743T possibly damaging Het
Kcnq5 T G 1: 21,472,654 (GRCm39) L845F probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrp1 A T 10: 127,408,291 (GRCm39) I1795N probably damaging Het
Lsp1 C T 7: 142,044,288 (GRCm39) probably benign Het
Mcm6 C T 1: 128,277,185 (GRCm39) A213T possibly damaging Het
Mylk G T 16: 34,750,266 (GRCm39) V1202L probably benign Het
Myo5b T C 18: 74,848,010 (GRCm39) Y1083H probably damaging Het
Ncoa5 T A 2: 164,854,981 (GRCm39) D47V probably damaging Het
Npat C T 9: 53,478,110 (GRCm39) T954I probably damaging Het
Or2b28 A G 13: 21,531,682 (GRCm39) T195A probably benign Het
Or5p1 A T 7: 107,916,130 (GRCm39) T10S probably benign Het
Pfkm T C 15: 98,024,276 (GRCm39) I428T probably benign Het
Rai1 T C 11: 60,079,569 (GRCm39) F1211S probably damaging Het
Reln T C 5: 22,308,355 (GRCm39) E338G probably benign Het
Tbx18 T C 9: 87,609,459 (GRCm39) Y192C probably damaging Het
Tex21 T A 12: 76,261,398 (GRCm39) D250V probably damaging Het
Tpo A G 12: 30,150,413 (GRCm39) V489A probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wnk2 C T 13: 49,256,278 (GRCm39) G281D probably damaging Het
Zfhx2 T C 14: 55,304,085 (GRCm39) T1300A probably benign Het
Other mutations in Tspo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03218:Tspo APN 15 83,455,631 (GRCm39) missense possibly damaging 0.89
R5952:Tspo UTSW 15 83,456,441 (GRCm39) missense possibly damaging 0.52
R6176:Tspo UTSW 15 83,458,007 (GRCm39) missense probably benign
R7252:Tspo UTSW 15 83,456,466 (GRCm39) missense probably damaging 1.00
R8002:Tspo UTSW 15 83,455,640 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16