Incidental Mutation 'IGL01688:Tarbp1'
ID104018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tarbp1
Ensembl Gene ENSMUSG00000090290
Gene NameTAR RNA binding protein 1
SynonymsGm17296
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.586) question?
Stock #IGL01688
Quality Score
Status
Chromosome8
Chromosomal Location126425329-126475065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 126447551 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 839 (W839R)
Ref Sequence ENSEMBL: ENSMUSP00000129815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170518]
Predicted Effect probably damaging
Transcript: ENSMUST00000170518
AA Change: W839R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: W839R

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
low complexity region 47 57 N/A INTRINSIC
low complexity region 77 97 N/A INTRINSIC
low complexity region 112 127 N/A INTRINSIC
low complexity region 195 207 N/A INTRINSIC
SCOP:d1gw5a_ 1059 1260 3e-3 SMART
Pfam:SpoU_methylase 1421 1564 2.2e-32 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,165,123 L59P probably damaging Het
Ccin A T 4: 43,984,985 E464V possibly damaging Het
Cfap58 A G 19: 47,974,567 D472G probably benign Het
Col28a1 C T 6: 7,998,517 E1131K probably damaging Het
Cpne2 A G 8: 94,554,753 T196A possibly damaging Het
Cul4a A T 8: 13,146,571 R742* probably null Het
Cyp21a1 T A 17: 34,802,220 I370F probably damaging Het
Ddx51 T C 5: 110,655,647 F332L probably benign Het
Gm8232 A G 14: 44,433,722 D29G unknown Het
Got1 A G 19: 43,524,336 probably null Het
Gpat4 A G 8: 23,181,845 I58T probably benign Het
Hdac3 T A 18: 37,954,879 D12V possibly damaging Het
Helb T C 10: 120,108,980 H217R probably damaging Het
Hpf1 A T 8: 60,896,796 I153L probably benign Het
Lgsn G A 1: 31,204,405 D523N probably damaging Het
Lrrc63 A G 14: 75,084,982 S561P possibly damaging Het
Myh6 G A 14: 54,963,960 T94I possibly damaging Het
Mzt2 T C 16: 15,862,929 probably benign Het
Ndufb5 T A 3: 32,746,464 L62* probably null Het
Nek1 A T 8: 61,105,597 R970* probably null Het
Nepro T C 16: 44,736,006 L509P probably damaging Het
Pank1 T A 19: 34,840,852 I96F probably damaging Het
Parp11 C A 6: 127,471,606 T62K probably benign Het
Pla2g2e T A 4: 138,879,470 probably benign Het
Plekha5 T A 6: 140,569,389 Y207N probably damaging Het
Pomt2 T A 12: 87,147,520 I37F probably benign Het
Prl6a1 T A 13: 27,317,986 V117E probably damaging Het
Prmt3 T A 7: 49,848,732 probably null Het
Rcor3 T A 1: 192,123,600 E20V probably damaging Het
Rere A G 4: 150,618,436 D1449G probably damaging Het
Ric1 T C 19: 29,577,614 V376A probably benign Het
Rims1 G A 1: 22,397,540 T873I probably benign Het
Rras2 T C 7: 114,060,397 D44G probably damaging Het
Sbk2 C T 7: 4,957,717 probably benign Het
Slit1 A G 19: 41,729,106 I73T probably damaging Het
Spice1 T A 16: 44,384,710 M793K probably benign Het
Suco T C 1: 161,863,911 probably null Het
Trpc4 T A 3: 54,266,074 probably benign Het
Tubgcp5 T C 7: 55,815,018 V549A possibly damaging Het
Ubap2 T A 4: 41,226,308 T182S probably benign Het
Wrn A C 8: 33,310,702 probably benign Het
Zc3h15 A G 2: 83,662,192 Y337C probably damaging Het
Zfp292 T A 4: 34,807,855 I1730F possibly damaging Het
Zfp609 A G 9: 65,704,025 V552A probably benign Het
Other mutations in Tarbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Tarbp1 APN 8 126459161 missense probably damaging 1.00
IGL01419:Tarbp1 APN 8 126428155 missense probably benign 0.03
IGL01475:Tarbp1 APN 8 126433962 missense probably benign 0.03
IGL01772:Tarbp1 APN 8 126447231 splice site probably benign
IGL02402:Tarbp1 APN 8 126450828 splice site probably benign
IGL02899:Tarbp1 APN 8 126453844 missense probably damaging 0.96
IGL03006:Tarbp1 APN 8 126444142 missense probably damaging 1.00
IGL03273:Tarbp1 APN 8 126453835 missense probably damaging 1.00
PIT4280001:Tarbp1 UTSW 8 126430847 missense probably damaging 0.96
R0048:Tarbp1 UTSW 8 126447530 missense probably damaging 1.00
R0309:Tarbp1 UTSW 8 126438928 splice site probably benign
R0383:Tarbp1 UTSW 8 126447484 missense probably benign 0.00
R0455:Tarbp1 UTSW 8 126440873 missense probably benign 0.00
R0738:Tarbp1 UTSW 8 126438801 critical splice donor site probably null
R1345:Tarbp1 UTSW 8 126448330 missense probably benign 0.03
R1370:Tarbp1 UTSW 8 126448330 missense probably benign 0.03
R1617:Tarbp1 UTSW 8 126444268 missense possibly damaging 0.47
R1628:Tarbp1 UTSW 8 126430860 missense possibly damaging 0.78
R1702:Tarbp1 UTSW 8 126428218 missense probably damaging 1.00
R1873:Tarbp1 UTSW 8 126447047 missense probably damaging 1.00
R2018:Tarbp1 UTSW 8 126428114 missense probably damaging 1.00
R2019:Tarbp1 UTSW 8 126428114 missense probably damaging 1.00
R2060:Tarbp1 UTSW 8 126447594 splice site probably null
R2877:Tarbp1 UTSW 8 126427832 missense probably damaging 1.00
R3008:Tarbp1 UTSW 8 126447421 missense possibly damaging 0.46
R3875:Tarbp1 UTSW 8 126438799 splice site probably benign
R3905:Tarbp1 UTSW 8 126428152 missense probably damaging 1.00
R3923:Tarbp1 UTSW 8 126440771 missense probably benign 0.00
R4420:Tarbp1 UTSW 8 126447080 missense possibly damaging 0.59
R4570:Tarbp1 UTSW 8 126452233 missense probably benign 0.00
R4610:Tarbp1 UTSW 8 126474330 missense probably damaging 1.00
R4649:Tarbp1 UTSW 8 126447195 missense probably damaging 0.96
R4802:Tarbp1 UTSW 8 126474889 missense possibly damaging 0.75
R4951:Tarbp1 UTSW 8 126447445 missense possibly damaging 0.94
R4953:Tarbp1 UTSW 8 126447445 missense possibly damaging 0.94
R5254:Tarbp1 UTSW 8 126467156 missense probably damaging 0.96
R5255:Tarbp1 UTSW 8 126428970 missense probably benign 0.16
R5638:Tarbp1 UTSW 8 126450686 missense probably damaging 1.00
R5696:Tarbp1 UTSW 8 126447340 missense probably damaging 0.98
R5707:Tarbp1 UTSW 8 126467144 missense probably damaging 1.00
R5896:Tarbp1 UTSW 8 126452928 missense probably benign 0.05
R6087:Tarbp1 UTSW 8 126428970 missense probably benign 0.00
R6117:Tarbp1 UTSW 8 126427541 missense probably benign 0.00
R6132:Tarbp1 UTSW 8 126434809 missense probably benign 0.17
R6168:Tarbp1 UTSW 8 126448405 missense possibly damaging 0.89
R6419:Tarbp1 UTSW 8 126459044 missense possibly damaging 0.95
R6482:Tarbp1 UTSW 8 126450695 missense probably benign 0.01
R6766:Tarbp1 UTSW 8 126447400 missense probably benign 0.41
R6775:Tarbp1 UTSW 8 126436829 missense probably benign 0.16
R6960:Tarbp1 UTSW 8 126429039 missense possibly damaging 0.88
R7054:Tarbp1 UTSW 8 126474495 missense possibly damaging 0.85
R7068:Tarbp1 UTSW 8 126427034 missense probably damaging 1.00
Posted On2014-01-21