Mutagenetix > Incidental Mutations

Incidental Mutation 'R1617:Tarbp1'

174367

Institutional Source

Beutler Lab

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

MMRRC Submission

039654-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126444268 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 998 (I998V)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170518
AA Change: I998V

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: I998V

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

Meta Mutation Damage Score

0.0881

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

98% (83/85)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,937	I91K	probably damaging	Het
Adamts16	T	A	13: 70,798,035	M254L	probably benign	Het
Adgre5	T	C	8: 83,730,177	I192V	possibly damaging	Het
Akr1c21	G	A	13: 4,576,352		probably null	Het
Amz2	A	G	11: 109,434,024	T245A	probably benign	Het
Aqp7	A	C	4: 41,036,109	M43R	probably null	Het
Arid3c	G	A	4: 41,725,103	P315S	probably damaging	Het
Birc2	A	T	9: 7,826,951	Y345N	possibly damaging	Het
Blnk	T	C	19: 40,962,363	T115A	probably benign	Het
Col5a1	T	C	2: 27,952,381	S423P	unknown	Het
Corin	A	T	5: 72,503,952	F66Y	possibly damaging	Het
Cpd	A	T	11: 76,846,669	W100R	probably damaging	Het
Cpsf1	A	T	15: 76,602,370	Y296*	probably null	Het
Cyp2d34	T	C	15: 82,620,845	T5A	probably benign	Het
Dhrs7c	G	T	11: 67,815,077	V219L	possibly damaging	Het
Dnah3	T	C	7: 120,089,946	M82V	probably benign	Het
Dnah9	A	G	11: 65,895,921	S3629P	probably damaging	Het
Fam160a2	A	G	7: 105,385,062	L454P	probably damaging	Het
Fbrs	T	C	7: 127,487,711	L33P	probably damaging	Het
Galnt11	T	A	5: 25,258,893	S388T	probably damaging	Het
Glmp	A	G	3: 88,328,119		probably benign	Het
Gm13178	T	G	4: 144,715,391	T97P	probably damaging	Het
Gm13212	A	T	4: 145,624,307		probably benign	Het
Gm9268	A	G	7: 43,024,079	E187G	probably benign	Het
Gm9894	A	G	13: 67,772,726		noncoding transcript	Het
Grik3	A	G	4: 125,691,192	M618V	probably benign	Het
Hmcn1	T	C	1: 150,745,027	D1144G	probably damaging	Het
Hnrnpa2b1	T	C	6: 51,466,398	K161R	possibly damaging	Het
Kmt2c	T	C	5: 25,375,927	I523V	probably benign	Het
Lmln	C	T	16: 33,117,130	P622S	probably damaging	Het
Lmtk2	A	G	5: 144,173,862	T467A	probably damaging	Het
Map1s	T	A	8: 70,913,451	N333K	probably damaging	Het
Mgat4d	C	A	8: 83,365,711	A242D	probably damaging	Het
Muc5b	T	A	7: 141,863,524	Y3402*	probably null	Het
Myo3b	G	T	2: 70,281,218	A922S	probably benign	Het
Nphs1	T	C	7: 30,482,531	V1183A	probably benign	Het
Nup160	T	A	2: 90,679,499	C31S	probably benign	Het
Olfr1061	A	T	2: 86,413,691	Y120*	probably null	Het
Olfr48	T	C	2: 89,844,254	T240A	probably benign	Het
Pcdhb5	T	G	18: 37,321,402	Y278*	probably null	Het
Pkhd1	T	A	1: 20,198,050	E3368V	possibly damaging	Het
Pla2g6	A	G	15: 79,289,141	M676T	probably benign	Het
Plcb1	A	T	2: 135,337,441	N590Y	probably damaging	Het
Prr12	G	A	7: 45,049,594		probably benign	Het
Psat1	A	G	19: 15,924,302		probably null	Het
Ptpn9	T	G	9: 57,027,408	I152S	possibly damaging	Het
Ric8b	T	A	10: 84,947,611	F111Y	probably damaging	Het
Slc44a3	G	A	3: 121,461,265	A568V	probably benign	Het
Smarcd3	T	G	5: 24,595,194	R213S	probably damaging	Het
Snx13	T	C	12: 35,086,896	Y119H	probably damaging	Het
Socs2	C	A	10: 95,413,081	E57*	probably null	Het
Spred1	C	T	2: 117,175,347	P197S	probably benign	Het
Srek1	G	T	13: 103,743,604	P482Q	unknown	Het
Tapbp	A	G	17: 33,920,431	T134A	probably benign	Het
Tbcel	G	T	9: 42,461,293		probably benign	Het
Tec	A	G	5: 72,782,105	F189S	probably damaging	Het
Tmprss11g	A	T	5: 86,499,563	Y39N	probably damaging	Het
Tmtc1	A	G	6: 148,355,404		probably benign	Het
Trpa1	A	G	1: 14,873,675	I1070T	probably damaging	Het
Trpm2	T	A	10: 77,935,875		probably null	Het
Ttc21b	G	T	2: 66,226,035	T669K	probably benign	Het
Ttll4	G	A	1: 74,679,401	R137H	probably benign	Het
Ubqln3	G	T	7: 104,142,860	L8I	possibly damaging	Het
Ung	C	A	5: 114,131,354	N42K	probably benign	Het
Upp1	T	C	11: 9,134,865	S195P	probably damaging	Het
Urb1	T	C	16: 90,760,452	E1762G	possibly damaging	Het
Utp11	T	C	4: 124,686,111	K35E	probably damaging	Het
Vav3	A	T	3: 109,510,978	K305I	probably damaging	Het
Vmn1r197	A	G	13: 22,328,328	I140V	possibly damaging	Het
Zfc3h1	A	G	10: 115,390,922	T295A	probably benign	Het
Zfp46	T	C	4: 136,290,512	L219P	probably damaging	Het
Zfp493	G	A	13: 67,783,880	V33M	probably damaging	Het
Zfp92	T	C	X: 73,419,860		probably benign	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
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
R7965:Tarbp1	UTSW	8	126456493	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCAAGCAGACTGTGGCATT -3'
(R):5'- GCTGTGAGTTACTCCTCTCAGTCCT -3'

Sequencing Primer
(F):5'- AGCAGACTGTGGCATTTTTACC -3'
(R):5'- gcctcaaactcataaatctgcc -3'

Posted On

2014-04-24