Incidental Mutation 'R5696:Tarbp1'
ID 450675
Institutional Source Beutler Lab
Gene Symbol Tarbp1
Ensembl Gene ENSMUSG00000090290
Gene Name TAR RNA binding protein 1
Synonyms Gm17296
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 127152068-127201804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 127174079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 909 (M909R)
Ref Sequence ENSEMBL: ENSMUSP00000129815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170518]
AlphaFold E9Q368
Predicted Effect probably damaging
Transcript: ENSMUST00000170518
AA Change: M909R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: M909R

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Capn2 T C 1: 182,306,165 (GRCm39) E527G possibly damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Ccnh T A 13: 85,344,446 (GRCm39) probably null Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dag1 A T 9: 108,086,646 (GRCm39) V165E probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Grb10 T A 11: 11,883,566 (GRCm39) N508I probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nlrp9b A T 7: 19,758,417 (GRCm39) R551S probably benign Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Qrich2 T C 11: 116,335,828 (GRCm39) I2114V probably damaging Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Rp1l1 A G 14: 64,267,195 (GRCm39) D927G probably damaging Het
Secisbp2 C A 13: 51,833,857 (GRCm39) Q666K probably damaging Het
Slc45a2 T C 15: 11,001,219 (GRCm39) I106T probably damaging Het
Slx4 G T 16: 3,797,831 (GRCm39) Q1518K probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging Het
Other mutations in Tarbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Tarbp1 APN 8 127,185,900 (GRCm39) missense probably damaging 1.00
IGL01419:Tarbp1 APN 8 127,154,894 (GRCm39) missense probably benign 0.03
IGL01475:Tarbp1 APN 8 127,160,701 (GRCm39) missense probably benign 0.03
IGL01688:Tarbp1 APN 8 127,174,290 (GRCm39) missense probably damaging 1.00
IGL01772:Tarbp1 APN 8 127,173,970 (GRCm39) splice site probably benign
IGL02402:Tarbp1 APN 8 127,177,567 (GRCm39) splice site probably benign
IGL02899:Tarbp1 APN 8 127,180,583 (GRCm39) missense probably damaging 0.96
IGL03006:Tarbp1 APN 8 127,170,881 (GRCm39) missense probably damaging 1.00
IGL03273:Tarbp1 APN 8 127,180,574 (GRCm39) missense probably damaging 1.00
PIT4280001:Tarbp1 UTSW 8 127,157,586 (GRCm39) missense probably damaging 0.96
R0048:Tarbp1 UTSW 8 127,174,269 (GRCm39) missense probably damaging 1.00
R0309:Tarbp1 UTSW 8 127,165,667 (GRCm39) splice site probably benign
R0383:Tarbp1 UTSW 8 127,174,223 (GRCm39) missense probably benign 0.00
R0455:Tarbp1 UTSW 8 127,167,612 (GRCm39) missense probably benign 0.00
R0738:Tarbp1 UTSW 8 127,165,540 (GRCm39) critical splice donor site probably null
R1345:Tarbp1 UTSW 8 127,175,069 (GRCm39) missense probably benign 0.03
R1370:Tarbp1 UTSW 8 127,175,069 (GRCm39) missense probably benign 0.03
R1617:Tarbp1 UTSW 8 127,171,007 (GRCm39) missense possibly damaging 0.47
R1628:Tarbp1 UTSW 8 127,157,599 (GRCm39) missense possibly damaging 0.78
R1702:Tarbp1 UTSW 8 127,154,957 (GRCm39) missense probably damaging 1.00
R1873:Tarbp1 UTSW 8 127,173,786 (GRCm39) missense probably damaging 1.00
R2018:Tarbp1 UTSW 8 127,154,853 (GRCm39) missense probably damaging 1.00
R2019:Tarbp1 UTSW 8 127,154,853 (GRCm39) missense probably damaging 1.00
R2060:Tarbp1 UTSW 8 127,174,333 (GRCm39) splice site probably null
R2877:Tarbp1 UTSW 8 127,154,571 (GRCm39) missense probably damaging 1.00
R3008:Tarbp1 UTSW 8 127,174,160 (GRCm39) missense possibly damaging 0.46
R3875:Tarbp1 UTSW 8 127,165,538 (GRCm39) splice site probably benign
R3905:Tarbp1 UTSW 8 127,154,891 (GRCm39) missense probably damaging 1.00
R3923:Tarbp1 UTSW 8 127,167,510 (GRCm39) missense probably benign 0.00
R4420:Tarbp1 UTSW 8 127,173,819 (GRCm39) missense possibly damaging 0.59
R4570:Tarbp1 UTSW 8 127,178,972 (GRCm39) missense probably benign 0.00
R4610:Tarbp1 UTSW 8 127,201,069 (GRCm39) missense probably damaging 1.00
R4649:Tarbp1 UTSW 8 127,173,934 (GRCm39) missense probably damaging 0.96
R4802:Tarbp1 UTSW 8 127,201,628 (GRCm39) missense possibly damaging 0.75
R4951:Tarbp1 UTSW 8 127,174,184 (GRCm39) missense possibly damaging 0.94
R4953:Tarbp1 UTSW 8 127,174,184 (GRCm39) missense possibly damaging 0.94
R5254:Tarbp1 UTSW 8 127,193,895 (GRCm39) missense probably damaging 0.96
R5255:Tarbp1 UTSW 8 127,155,709 (GRCm39) missense probably benign 0.16
R5638:Tarbp1 UTSW 8 127,177,425 (GRCm39) missense probably damaging 1.00
R5707:Tarbp1 UTSW 8 127,193,883 (GRCm39) missense probably damaging 1.00
R5896:Tarbp1 UTSW 8 127,179,667 (GRCm39) missense probably benign 0.05
R6087:Tarbp1 UTSW 8 127,155,709 (GRCm39) missense probably benign 0.00
R6117:Tarbp1 UTSW 8 127,154,280 (GRCm39) missense probably benign 0.00
R6132:Tarbp1 UTSW 8 127,161,548 (GRCm39) missense probably benign 0.17
R6168:Tarbp1 UTSW 8 127,175,144 (GRCm39) missense possibly damaging 0.89
R6419:Tarbp1 UTSW 8 127,185,783 (GRCm39) missense possibly damaging 0.95
R6482:Tarbp1 UTSW 8 127,177,434 (GRCm39) missense probably benign 0.01
R6766:Tarbp1 UTSW 8 127,174,139 (GRCm39) missense probably benign 0.41
R6775:Tarbp1 UTSW 8 127,163,568 (GRCm39) missense probably benign 0.16
R6960:Tarbp1 UTSW 8 127,155,778 (GRCm39) missense possibly damaging 0.88
R7054:Tarbp1 UTSW 8 127,201,234 (GRCm39) missense possibly damaging 0.85
R7068:Tarbp1 UTSW 8 127,153,773 (GRCm39) missense probably damaging 1.00
R7454:Tarbp1 UTSW 8 127,184,416 (GRCm39) missense probably benign 0.19
R7519:Tarbp1 UTSW 8 127,160,639 (GRCm39) missense possibly damaging 0.87
R7760:Tarbp1 UTSW 8 127,179,546 (GRCm39) missense not run
R7837:Tarbp1 UTSW 8 127,201,300 (GRCm39) missense probably benign 0.00
R7882:Tarbp1 UTSW 8 127,183,232 (GRCm39) missense probably damaging 1.00
R7982:Tarbp1 UTSW 8 127,171,040 (GRCm39) missense probably damaging 1.00
R8166:Tarbp1 UTSW 8 127,153,867 (GRCm39) missense possibly damaging 0.79
R8517:Tarbp1 UTSW 8 127,170,934 (GRCm39) missense probably benign 0.29
R8838:Tarbp1 UTSW 8 127,177,569 (GRCm39) splice site probably benign
R8880:Tarbp1 UTSW 8 127,198,044 (GRCm39) missense probably damaging 1.00
R9061:Tarbp1 UTSW 8 127,173,880 (GRCm39) missense probably damaging 1.00
R9123:Tarbp1 UTSW 8 127,174,202 (GRCm39) missense possibly damaging 0.63
R9125:Tarbp1 UTSW 8 127,174,202 (GRCm39) missense possibly damaging 0.63
R9364:Tarbp1 UTSW 8 127,177,462 (GRCm39) missense probably benign 0.01
R9474:Tarbp1 UTSW 8 127,155,779 (GRCm39) missense probably benign 0.44
R9670:Tarbp1 UTSW 8 127,183,262 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TTAGGCCAGAACGTCAGCTG -3'
(R):5'- TATCTACATGATCAGTGGGTCTGC -3'

Sequencing Primer
(F):5'- CCAGAACGTCAGCTGTGTGTTG -3'
(R):5'- ATGATCAGTGGGTCTGCCTCTC -3'
Posted On 2017-01-03