Mutagenetix > Incidental Mutation

Incidental Mutation 'R7760:Tarbp1'

597800

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 #

R7760 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126452807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 664 (R664H)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

AlphaFold

E9Q368

Predicted Effect

not run
Transcript: ENSMUST00000170518
AA Change: R664H

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: R664H

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	T	14: 25,872,827	Q162*	probably null	Het
Arg1	T	G	10: 24,927,463		probably benign	Het
Arl6	T	C	16: 59,618,806	D175G	probably damaging	Het
Capg	A	G	6: 72,557,786	R199G	probably damaging	Het
Ceacam1	T	A	7: 25,472,025	E338V	probably damaging	Het
Clec4d	A	G	6: 123,270,341	N148D	probably benign	Het
Ctr9	T	G	7: 111,046,601	I653R	probably damaging	Het
Dmwd	C	T	7: 19,080,735	L437F	probably damaging	Het
Dnah7b	T	A	1: 46,201,253	L1510Q	probably damaging	Het
Efcab5	T	A	11: 77,151,926	E136D	probably benign	Het
Elfn2	C	T	15: 78,673,841	A169T	probably benign	Het
Esrp2	T	A	8: 106,133,470	E326D	probably benign	Het
Fbrs	T	C	7: 127,489,400	V718A	probably damaging	Het
Fbxl21	T	C	13: 56,526,934	S33P	probably benign	Het
Fbxl21	C	T	13: 56,537,003	R307C	probably benign	Het
Gatad2b	C	T	3: 90,354,469	R461W	probably damaging	Het
Gm19410	T	A	8: 35,802,337	C1109S	probably damaging	Het
Gm6882	T	A	7: 21,427,484	D153V	probably damaging	Het
Gm7075	T	C	10: 63,421,537	K68R	probably damaging	Het
Golga3	A	G	5: 110,205,850	E918G	probably benign	Het
Greb1	T	C	12: 16,723,416	N219S	probably benign	Het
Grpel1	G	T	5: 36,470,642	R89L	probably damaging	Het
Ighv5-12	T	A	12: 113,702,175	Q101L	probably benign	Het
Ikbkap	A	G	4: 56,790,892	V287A	probably benign	Het
Ldb3	T	A	14: 34,542,503	N590I	probably damaging	Het
Man2c1	T	C	9: 57,139,363	V636A	probably benign	Het
Mblac2	G	T	13: 81,711,877	V117L	probably benign	Het
Muc6	T	A	7: 141,651,057		probably null	Het
Nfatc3	A	G	8: 106,108,341	E773G	possibly damaging	Het
Ngef	T	C	1: 87,540,773	D88G	probably benign	Het
Nipbl	T	C	15: 8,358,702	E478G	probably damaging	Het
Olfr720	T	C	14: 14,175,905	Y59C	probably damaging	Het
Pbx4	C	A	8: 69,832,795	D29E	probably benign	Het
Pcdhgb5	A	G	18: 37,731,637	I162V	not run	Het
Pdcd11	G	A	19: 47,113,198	V941M	possibly damaging	Het
Pigr	A	T	1: 130,846,631	R449S	possibly damaging	Het
Plcb2	T	C	2: 118,711,388	T914A	probably benign	Het
Ppp5c	A	G	7: 17,006,349	S387P	probably damaging	Het
Rtkn2	T	G	10: 68,005,609	S196A	probably damaging	Het
Sec31a	A	G	5: 100,392,628	F400L	probably damaging	Het
Senp7	A	T	16: 56,139,079	M251L	probably benign	Het
Slc6a5	T	C	7: 49,946,617	F612L	probably benign	Het
Slc7a9	T	C	7: 35,457,075	I314T	possibly damaging	Het
Smc5	A	C	19: 23,235,890	S553A	probably benign	Het
Spaca3	T	A	11: 80,864,563	V133D	probably damaging	Het
Taco1	T	A	11: 106,073,112	D232E	possibly damaging	Het
Tlk2	T	C	11: 105,279,167	I674T	probably damaging	Het
Tnxb	A	T	17: 34,712,937	E2148V	probably damaging	Het
Tom1l2	T	C	11: 60,274,965	S59G	probably benign	Het
Traj46	A	T	14: 54,172,356	H7L		Het
Traj46	T	G	14: 54,172,357	H7Q		Het
Trav6-4	T	A	14: 53,454,646	L70Q	possibly damaging	Het
Trmt1l	C	T	1: 151,442,674	T245I	possibly damaging	Het
Wac	T	A	18: 7,921,913	C601S	probably benign	Het
Wnt3	T	A	11: 103,811,440	H145Q	probably benign	Het
Zfp948	T	C	17: 21,588,366	C607R	probably 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
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
R8880:Tarbp1	UTSW	8	126471305	missense	probably damaging	1.00
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

Posted On

2019-11-26