Incidental Mutation 'IGL02311:Tbata'
ID287793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbata
Ensembl Gene ENSMUSG00000020096
Gene Namethymus, brain and testes associated
SynonymsSpatial, 1700021K02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL02311
Quality Score
Status
Chromosome10
Chromosomal Location61171954-61188841 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 61179455 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 150 (C150*)
Ref Sequence ENSEMBL: ENSMUSP00000118942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035894] [ENSMUST00000079235] [ENSMUST00000121297] [ENSMUST00000122261] [ENSMUST00000126831] [ENSMUST00000131879] [ENSMUST00000140456] [ENSMUST00000143207] [ENSMUST00000148181] [ENSMUST00000151886]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035894
AA Change: V168D

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036422
Gene: ENSMUSG00000020096
AA Change: V168D

DomainStartEndE-ValueType
low complexity region 58 70 N/A INTRINSIC
low complexity region 73 87 N/A INTRINSIC
Pfam:SPATIAL 123 316 2.8e-64 PFAM
low complexity region 335 346 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000079235
AA Change: V173D

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078227
Gene: ENSMUSG00000020096
AA Change: V173D

DomainStartEndE-ValueType
low complexity region 63 75 N/A INTRINSIC
low complexity region 78 92 N/A INTRINSIC
Pfam:SPATIAL 128 230 2.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121297
AA Change: V134D

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113253
Gene: ENSMUSG00000020096
AA Change: V134D

DomainStartEndE-ValueType
low complexity region 58 70 N/A INTRINSIC
Pfam:SPATIAL 82 191 2.2e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122261
AA Change: V134D

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113902
Gene: ENSMUSG00000020096
AA Change: V134D

DomainStartEndE-ValueType
low complexity region 58 70 N/A INTRINSIC
Pfam:SPATIAL 82 282 6.7e-76 PFAM
low complexity region 301 312 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000126831
AA Change: V49D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119957
Gene: ENSMUSG00000020096
AA Change: V49D

DomainStartEndE-ValueType
Pfam:SPATIAL 1 155 1.9e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000131879
AA Change: C150*
SMART Domains Protein: ENSMUSP00000118942
Gene: ENSMUSG00000020096
AA Change: C150*

DomainStartEndE-ValueType
low complexity region 58 70 N/A INTRINSIC
low complexity region 73 87 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000140456
AA Change: V44D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000143207
AA Change: V8D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000148181
AA Change: V44D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000151886
AA Change: V8D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a putative transcription factor that is highly expressed in thymic cortical stromal cells, and may be involved in T-cell development. Its expression is developmentally regulated in the testis, where it is restricted to the haploid round spermatids during spermatogenesis, and thus this gene may also have a role in the control of male germ cell development. Alternative splicing of this gene results in two sets of transcript variants: the variants containing 5 additional exons at the 3' end encode long isoforms that are highly expressed in the testis, while the variants lacking the 3' end exons encode short isoforms that are highly expressed in the thymus. Most of the transcripts encoding the short isoforms have been shown to initiate translation from non-AUG (CUG) start sites. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased thymic pithelial cells and total thymocyte numbers without altering T cell development and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C A 5: 24,997,707 probably benign Het
Adam21 T G 12: 81,560,892 D32A probably benign Het
Asns A G 6: 7,676,233 probably null Het
Bin3 A T 14: 70,124,217 M45L probably benign Het
Cfap44 A T 16: 44,404,771 probably benign Het
Cmya5 T C 13: 93,090,655 T2642A probably benign Het
Dbndd2 T C 2: 164,488,702 S92P possibly damaging Het
Dclre1b A C 3: 103,808,093 F30V probably damaging Het
Dock6 T C 9: 21,844,328 D200G probably damaging Het
Epb41l4b C A 4: 57,076,456 R335L probably damaging Het
Fscn1 T C 5: 142,972,010 V304A probably benign Het
Gm7008 G A 12: 40,223,386 probably benign Het
Gm8237 A G 14: 5,864,425 probably null Het
Ifih1 T C 2: 62,610,503 T440A probably damaging Het
Mepe C T 5: 104,337,705 S237F probably damaging Het
Nr4a2 T C 2: 57,111,731 I174V probably benign Het
Olfr251 C T 9: 38,377,898 Q6* probably null Het
Olfr706 A G 7: 106,885,894 Y308H probably benign Het
Orc1 G T 4: 108,599,974 V404L probably benign Het
Pcsk5 G T 19: 17,433,420 Y1869* probably null Het
Phf21b A G 15: 84,793,894 probably null Het
Pigg A G 5: 108,336,380 T631A probably benign Het
Plxnb1 A G 9: 109,101,122 N349D probably benign Het
Scaf11 T C 15: 96,418,756 S976G probably benign Het
Scn8a G T 15: 101,013,283 M861I probably damaging Het
Stau1 T C 2: 166,950,319 N433S probably damaging Het
Synrg A G 11: 84,019,804 K854R probably benign Het
Tcn2 G A 11: 3,917,692 P417S probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Tpr G T 1: 150,398,653 D104Y probably damaging Het
Ubash3b T C 9: 41,047,037 T16A probably benign Het
Uso1 T A 5: 92,187,776 S548T probably benign Het
Vps13b T A 15: 35,709,514 V1869E probably benign Het
Vps18 T C 2: 119,290,251 C64R probably benign Het
Zic2 C A 14: 122,476,194 N173K probably damaging Het
Other mutations in Tbata
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Tbata APN 10 61175960 nonsense probably null
R0417:Tbata UTSW 10 61180339 missense probably damaging 1.00
R1537:Tbata UTSW 10 61183491 splice site probably null
R1956:Tbata UTSW 10 61183477 missense probably damaging 0.99
R1959:Tbata UTSW 10 61175844 missense possibly damaging 0.86
R2138:Tbata UTSW 10 61179284 missense probably benign 0.40
R4835:Tbata UTSW 10 61183353 missense probably damaging 1.00
R6261:Tbata UTSW 10 61175865 missense possibly damaging 0.92
R6667:Tbata UTSW 10 61185363 missense probably damaging 1.00
X0066:Tbata UTSW 10 61188605 missense probably damaging 1.00
Posted On2015-04-16