Incidental Mutation 'R9123:Tarbp1'
ID 693031
Institutional Source Beutler Lab
Gene Symbol Tarbp1
Ensembl Gene ENSMUSG00000090290
Gene Name TAR RNA binding protein 1
Synonyms Gm17296
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9123 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 127152068-127201804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127174202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 868 (T868K)
Ref Sequence ENSEMBL: ENSMUSP00000129815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170518]
AlphaFold E9Q368
Predicted Effect possibly damaging
Transcript: ENSMUST00000170518
AA Change: T868K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: T868K

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
Meta Mutation Damage Score 0.1311 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (56/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 G A 17: 84,976,425 (GRCm39) H471Y probably damaging Het
Ank2 T A 3: 126,733,744 (GRCm39) D622V probably damaging Het
Apoe T A 7: 19,432,375 (GRCm39) probably benign Het
Asz1 T C 6: 18,054,561 (GRCm39) E414G probably benign Het
Atp2a2 A T 5: 122,604,918 (GRCm39) C420* probably null Het
Cd84 A T 1: 171,712,153 (GRCm39) probably null Het
Cdca2 T A 14: 67,917,762 (GRCm39) R545S probably benign Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cib1 T C 7: 79,877,751 (GRCm39) D182G probably damaging Het
Cpsf2 A G 12: 101,963,555 (GRCm39) D428G probably damaging Het
Cspg4b C T 13: 113,505,374 (GRCm39) P2168S Het
Dap3 T A 3: 88,837,861 (GRCm39) T130S probably benign Het
Ddb2 T A 2: 91,064,593 (GRCm39) K106* probably null Het
Ehd2 G A 7: 15,684,626 (GRCm39) A391V probably damaging Het
Evpl A T 11: 116,115,008 (GRCm39) I894N possibly damaging Het
Gabrb2 A G 11: 42,482,693 (GRCm39) T184A probably damaging Het
Gfpt1 G A 6: 87,053,248 (GRCm39) V403I probably benign Het
Gli1 A G 10: 127,167,202 (GRCm39) S684P possibly damaging Het
Gm7276 A G 18: 77,273,147 (GRCm39) S196P unknown Het
Hoxc10 C T 15: 102,875,810 (GRCm39) P173L probably benign Het
Hrnr A G 3: 93,238,863 (GRCm39) N3034D unknown Het
Kif2c A T 4: 117,024,291 (GRCm39) S359T probably benign Het
Lmln T G 16: 32,930,202 (GRCm39) L553R probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mettl1 T A 10: 126,880,911 (GRCm39) V191D possibly damaging Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Myl1 A T 1: 66,973,675 (GRCm39) probably null Het
Nfat5 A G 8: 108,078,141 (GRCm39) T427A probably damaging Het
Noa1 T C 5: 77,457,038 (GRCm39) Y289C possibly damaging Het
Or5d14 C T 2: 87,880,294 (GRCm39) V225M probably damaging Het
Or8b49 T A 9: 38,506,108 (GRCm39) I197K probably damaging Het
Piezo2 A G 18: 63,178,589 (GRCm39) I1776T probably benign Het
Ppp1r7 A G 1: 93,285,497 (GRCm39) I246V probably benign Het
Ppp4c T A 7: 126,386,739 (GRCm39) E116V probably damaging Het
Psme2 T A 14: 55,828,302 (GRCm39) K15N possibly damaging Het
Retreg1 C T 15: 25,968,618 (GRCm39) R125C probably damaging Het
Rnf145 G T 11: 44,450,819 (GRCm39) R381L probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Ryr1 G A 7: 28,771,229 (GRCm39) T2604I probably damaging Het
Sag T C 1: 87,751,043 (GRCm39) S170P probably damaging Het
Sema3b T A 9: 107,478,173 (GRCm39) N404I possibly damaging Het
Serpina1b A T 12: 103,696,566 (GRCm39) L281Q probably damaging Het
Slc22a1 T A 17: 12,878,598 (GRCm39) T372S probably benign Het
Slco6d1 A T 1: 98,423,919 (GRCm39) N524Y probably damaging Het
Smarca2 T A 19: 26,693,583 (GRCm39) D1262E possibly damaging Het
Syne2 A T 12: 76,040,838 (GRCm39) H3832L probably damaging Het
Trp63 C T 16: 25,639,247 (GRCm39) A145V probably damaging Het
Tsc2 C T 17: 24,823,802 (GRCm39) R1001K probably null Het
Ttc39b T C 4: 83,189,444 (GRCm39) D30G probably damaging Het
Usf3 A G 16: 44,041,030 (GRCm39) T1837A probably benign Het
Usp25 T A 16: 76,911,969 (GRCm39) probably null Het
Vmn1r27 G A 6: 58,192,416 (GRCm39) T196I probably benign Het
Vrk3 C T 7: 44,407,254 (GRCm39) S75F possibly damaging Het
Washc5 T C 15: 59,209,134 (GRCm39) Y1030C probably damaging Het
Wdr47 T C 3: 108,526,106 (GRCm39) F210L probably damaging Het
Zfp853 G A 5: 143,274,496 (GRCm39) Q390* probably null Het
Zfyve9 A T 4: 108,575,760 (GRCm39) D440E probably benign 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
R5696:Tarbp1 UTSW 8 127,174,079 (GRCm39) missense probably damaging 0.98
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
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'- GTGTCAATCTCCACCGCAAC -3'
(R):5'- GCCCCATATGCCAAAGAAGTG -3'

Sequencing Primer
(F):5'- TCCACCGCAACACTGTTG -3'
(R):5'- CCATATGCCAAAGAAGTGAAGTC -3'
Posted On 2022-01-20