Mutagenetix > Incidental Mutation

Incidental Mutation 'R5255:Tarbp1'

399489

Institutional Source

Beutler Lab

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

MMRRC Submission

042826-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126428970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 1343 (D1343A)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059093] [ENSMUST00000170518] [ENSMUST00000211868]

AlphaFold

E9Q368

Predicted Effect

probably benign
Transcript: ENSMUST00000059093

SMART Domains

Protein: ENSMUSP00000058279
Gene: ENSMUSG00000051671

Domain	Start	End	E-Value	Type
Pfam:COX6B	1	67	6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170518
AA Change: D1343A

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: D1343A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211868

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	T	17: 33,066,765	C354*	probably null	Het
Abcf1	A	T	17: 35,959,737		probably null	Het
Abr	T	A	11: 76,455,683	E434V	probably damaging	Het
Acaca	T	A	11: 84,311,307	L197Q	probably damaging	Het
Acot10	A	G	15: 20,665,932	I241T	probably benign	Het
Acp6	T	C	3: 97,167,996	V182A	probably benign	Het
Ahnak2	G	A	12: 112,773,378	T1420I	possibly damaging	Het
Akr1c6	A	T	13: 4,447,019	K153N	probably benign	Het
Ank3	T	C	10: 69,885,200	L600P	probably damaging	Het
Arhgef1	G	A	7: 24,925,022	A824T	probably damaging	Het
B230307C23Rik	T	A	16: 98,008,691	N22K	possibly damaging	Het
Btn1a1	A	G	13: 23,464,154		probably benign	Het
Cenpf	G	A	1: 189,672,627	T352I	possibly damaging	Het
Ces4a	C	A	8: 105,142,489	F185L	probably benign	Het
Clybl	A	C	14: 122,384,279	E293A	probably benign	Het
Cobl	A	G	11: 12,375,825	W217R	probably damaging	Het
D430041D05Rik	T	C	2: 104,256,600	N677S	probably benign	Het
Ddx51	C	A	5: 110,656,042	T390N	possibly damaging	Het
Drd5	T	G	5: 38,319,967	V101G	probably damaging	Het
Elmo3	C	T	8: 105,307,353	P244L	probably benign	Het
Esrrg	G	A	1: 188,146,358	R189H	probably damaging	Het
Fxr2	A	G	11: 69,643,841	T183A	probably benign	Het
Gjd4	T	C	18: 9,280,613	H155R	probably benign	Het
Hivep2	T	A	10: 14,131,267		probably null	Het
Ints10	T	C	8: 68,793,972		probably benign	Het
Kank4	T	C	4: 98,778,972	T413A	probably benign	Het
Mapkbp1	T	C	2: 120,017,254	V568A	probably damaging	Het
Mobp	A	G	9: 120,168,353		probably benign	Het
Mpst	A	G	15: 78,410,508	S147G	probably benign	Het
Myo5b	A	T	18: 74,662,670	Y559F	possibly damaging	Het
Nceh1	T	C	3: 27,183,139	I21T	probably damaging	Het
Olfr1303	T	C	2: 111,814,178	K183E	probably benign	Het
Ralgps1	A	T	2: 33,276,159	V126E	probably damaging	Het
Rnls	A	G	19: 33,382,423	V115A	probably damaging	Het
Scn1a	A	T	2: 66,277,669	V1554D	probably damaging	Het
Slc16a11	T	A	11: 70,215,432	D165E	probably damaging	Het
Slc16a5	A	G	11: 115,462,675	T23A	probably benign	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc3a1	A	T	17: 85,028,453		probably null	Het
Slitrk6	A	T	14: 110,749,753	*841K	probably null	Het
Syngr1	A	G	15: 80,091,446	Y18C	possibly damaging	Het
Vac14	T	A	8: 110,634,329	I177N	probably damaging	Het
Vmn1r218	A	T	13: 23,136,711	D76V	possibly damaging	Het
Wdr75	T	A	1: 45,799,117	I62N	probably damaging	Het
Zfp12	A	T	5: 143,240,379	I68L	probably null	Het
Zswim8	T	A	14: 20,721,651	Y1551N	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
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
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

PCR Primer
(F):5'- CTCTAAGTAGAGGCAGAGACCCAG -3'
(R):5'- AGCCTGCAAGTTGAGGATGG -3'

Sequencing Primer
(F):5'- CAGGTCAGTGAAACAAAGTCATC -3'
(R):5'- GCACTAGCATTAATAAAACCTGGG -3'

Posted On

2016-07-06