Mutagenetix > Incidental Mutation

Incidental Mutation 'R8880:Tarbp1'

676851

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 #

R8880 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126471305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 302 (N302K)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170518]

AlphaFold

E9Q368

Predicted Effect

probably damaging
Transcript: ENSMUST00000170518
AA Change: N302K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: N302K

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,664,495	Y130H	probably damaging	Het
3425401B19Rik	C	T	14: 32,660,880	V1043I	probably benign	Het
5031439G07Rik	T	A	15: 84,955,666	I176F	possibly damaging	Het
Adam6b	T	A	12: 113,491,144	M527K	probably benign	Het
Atp10b	C	T	11: 43,215,984	T615I	probably benign	Het
Atxn2	A	G	5: 121,810,910	T1117A	probably benign	Het
AU021092	A	T	16: 5,214,721		probably benign	Het
Bcam	C	T	7: 19,758,746	V505M	probably damaging	Het
Bco2	A	T	9: 50,550,662	L14Q	probably damaging	Het
Caps2	T	G	10: 112,194,919		probably benign	Het
Cblb	T	C	16: 52,166,005	V537A	probably benign	Het
Ccdc141	A	T	2: 77,015,212	N1170K	probably benign	Het
Ccdc154	T	G	17: 25,170,155	D442E	probably benign	Het
Col24a1	A	G	3: 145,314,037	I60V	probably null	Het
Crb1	A	T	1: 139,237,148	N1140K	probably benign	Het
Ddhd1	G	A	14: 45,608,973	P621S	probably benign	Het
Ddx46	A	T	13: 55,666,220	N663I	probably benign	Het
Dgki	C	T	6: 37,034,717		probably benign	Het
Disp2	T	C	2: 118,790,758	F657S	probably damaging	Het
Dnajc2	T	C	5: 21,768,672	E262G	probably damaging	Het
Dvl2	T	A	11: 70,007,935	L408Q	possibly damaging	Het
Egflam	T	C	15: 7,237,768	D712G	probably damaging	Het
Entpd7	A	G	19: 43,704,407		probably benign	Het
Epb41	A	T	4: 131,967,793	W28R		Het
Fabp9	C	T	3: 10,197,171		probably benign	Het
Fkbp15	T	A	4: 62,314,365	M657L	probably benign	Het
Gfy	A	C	7: 45,178,360	L104R	possibly damaging	Het
Gm13103	T	C	4: 143,846,570		probably null	Het
Gm4070	T	C	7: 105,901,913	K644R	probably benign	Het
Gm4884	A	T	7: 41,044,487	I627F	probably damaging	Het
Gm9195	A	T	14: 72,453,880	S1643T	unknown	Het
Gpsm2	C	T	3: 108,703,019	A42T	possibly damaging	Het
Gys2	T	C	6: 142,456,387	Y242C	probably damaging	Het
Hbs1l	A	G	10: 21,309,969	N430S	probably damaging	Het
Idh3b	A	T	2: 130,284,084		probably benign	Het
Igdcc3	C	T	9: 65,181,268	A384V	probably benign	Het
Ighv3-4	C	T	12: 114,253,915	D19N	possibly damaging	Het
Igkv19-93	G	T	6: 68,736,510	A45E	probably damaging	Het
Il10ra	G	A	9: 45,264,333	T230M	probably damaging	Het
Kalrn	A	G	16: 34,217,935	V1009A	probably damaging	Het
Kcnma1	G	T	14: 23,367,650	A837D	probably damaging	Het
Kif7	T	A	7: 79,698,902	R1231S	probably benign	Het
Klhdc1	A	G	12: 69,252,043	D134G	possibly damaging	Het
Klk14	T	C	7: 43,694,035	V97A	probably damaging	Het
Lamb3	G	A	1: 193,321,055	V101M	possibly damaging	Het
Lrrc7	C	T	3: 158,161,744	E787K	probably damaging	Het
Mep1a	A	G	17: 43,497,917	I94T	possibly damaging	Het
Ncr1	C	T	7: 4,338,337	S109L	probably benign	Het
Nell2	A	T	15: 95,231,448	M678K	probably damaging	Het
Olfr165	A	T	16: 19,407,646	Y123*	probably null	Het
Olfr27	T	A	9: 39,144,603	F168I	probably damaging	Het
Olfr296-ps1	G	A	7: 86,562,341	C203Y	unknown	Het
Olfr536	C	A	7: 140,504,259	A67S	probably benign	Het
Pnpla1	A	C	17: 28,879,464	Y248S	probably damaging	Het
Prdm10	T	C	9: 31,353,446	F726L	probably damaging	Het
Prdm16	T	C	4: 154,528,913	N19S	probably damaging	Het
Prss44	A	G	9: 110,814,195	R53G	probably benign	Het
Rasgrp1	C	T	2: 117,284,944	R721Q	probably benign	Het
Rassf1	A	T	9: 107,557,541	N149I	probably damaging	Het
Rbp3	A	C	14: 33,956,839	T915P	probably benign	Het
Reg3g	A	T	6: 78,467,805	D63E	probably benign	Het
Rgs3	C	A	4: 62,625,136	T236K	probably damaging	Het
Rin2	T	C	2: 145,848,852	F147L	probably damaging	Het
Skiv2l2	T	A	13: 112,914,500	K180N	probably benign	Het
Slc17a1	T	C	13: 23,878,749	I266T	probably benign	Het
Slc34a3	A	T	2: 25,229,255	N534K	probably benign	Het
Smc2	A	T	4: 52,462,856	E615D	probably benign	Het
Snx16	A	C	3: 10,419,133	D343E	probably benign	Het
St18	T	A	1: 6,795,395	Y32*	probably null	Het
Svep1	C	T	4: 58,064,204	V3260I	possibly damaging	Het
Synm	C	T	7: 67,736,708	R402H	possibly damaging	Het
Tacc2	A	T	7: 130,716,834	E67V	possibly damaging	Het
Tenm2	A	G	11: 36,051,961	S1294P	probably damaging	Het
Ttk	T	C	9: 83,869,251	S794P	probably damaging	Het
Ulk1	G	A	5: 110,786,422	A999V	probably damaging	Het
Upf2	A	G	2: 6,026,172	I808V	unknown	Het
Ush2a	A	G	1: 188,728,536	T2665A	probably benign	Het
Usp8	A	G	2: 126,748,309	K672E	probably damaging	Het
Vmn2r105	T	A	17: 20,208,967	I616F	probably damaging	Het
Vps33a	T	C	5: 123,569,443	M154V	probably damaging	Het
Wdfy4	A	C	14: 33,073,535	Y2083*	probably null	Het
Zc3hav1	A	G	6: 38,311,277	F875L	probably benign	Het
Zfp979	T	C	4: 147,613,379	N291S	probably benign	Het
Zp2	T	A	7: 120,143,612	Y99F	possibly damaging	Het

Other mutations in Tarbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01688:Tarbp1	APN	8	126447551	missense	probably damaging	1.00
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
R7454:Tarbp1	UTSW	8	126457677	missense	probably benign	0.19
R7519:Tarbp1	UTSW	8	126433900	missense	possibly damaging	0.87
R7760:Tarbp1	UTSW	8	126452807	missense	not run
R7837:Tarbp1	UTSW	8	126474561	missense	probably benign	0.00
R7882:Tarbp1	UTSW	8	126456493	missense	probably damaging	1.00
R7982:Tarbp1	UTSW	8	126444301	missense	probably damaging	1.00
R8166:Tarbp1	UTSW	8	126427128	missense	possibly damaging	0.79
R8517:Tarbp1	UTSW	8	126444195	missense	probably benign	0.29
R8838:Tarbp1	UTSW	8	126450830	splice site	probably benign
R9061:Tarbp1	UTSW	8	126447141	missense	probably damaging	1.00
R9123:Tarbp1	UTSW	8	126447463	missense	possibly damaging	0.63
R9125:Tarbp1	UTSW	8	126447463	missense	possibly damaging	0.63
R9364:Tarbp1	UTSW	8	126450723	missense	probably benign	0.01
R9474:Tarbp1	UTSW	8	126429040	missense	probably benign	0.44
R9670:Tarbp1	UTSW	8	126456523	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCAATCACATGAATCCACTG -3'
(R):5'- CATGATTGGTGATCGCACTATTTGG -3'

Sequencing Primer
(F):5'- TCACATGAATCCACTGAAAGCATTC -3'
(R):5'- GTGATCGCACTATTTGGTAACATTAG -3'

Posted On

2021-07-15