Mutagenetix > Incidental Mutation

Incidental Mutation 'R7068:Tarbp1'

548690

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 #

R7068 (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 126427034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1560 (A1560T)

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 damaging
Transcript: ENSMUST00000170518
AA Change: A1560T

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

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: A1560T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,622,580	H24R	probably benign	Het
Ago2	A	T	15: 73,146,450	F46L	probably damaging	Het
Amd1	A	G	10: 40,290,512	F123L	probably benign	Het
Arhgef10	T	C	8: 14,958,639	F546L	probably damaging	Het
Asic2	G	A	11: 81,152,255	H71Y	probably benign	Het
Asphd1	A	G	7: 126,948,678	V151A	probably benign	Het
Best3	T	C	10: 116,988,638	V3A	probably damaging	Het
C4b	A	G	17: 34,733,477	L1196P	probably damaging	Het
Cd22	A	G	7: 30,878,079	V3A	probably benign	Het
Cdkl3	T	C	11: 52,011,327		probably null	Het
Clcnka	A	T	4: 141,387,110	V631E	probably damaging	Het
Cmya5	A	G	13: 93,092,697	V1961A	possibly damaging	Het
Dnah14	A	G	1: 181,769,790	E3559G	probably benign	Het
Emsy	A	T	7: 98,610,761	D39E	probably benign	Het
Fam126a	A	G	5: 23,964,795	S519P	possibly damaging	Het
Fbxl16	G	T	17: 25,819,511	V477F	possibly damaging	Het
Flt1	A	T	5: 147,673,634	I393N	probably damaging	Het
Gabra4	A	T	5: 71,572,059	N433K	probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Ghsr	T	A	3: 27,371,837	V14D	probably benign	Het
Glb1l	A	G	1: 75,202,737	Y183H	probably damaging	Het
Ighv3-4	T	C	12: 114,253,654	T106A	probably damaging	Het
Ik	T	G	18: 36,755,465	F439V	possibly damaging	Het
Itih5	T	C	2: 10,249,304	S789P	probably damaging	Het
Kcnj8	T	C	6: 142,566,239	D214G	probably damaging	Het
Kdm5a	C	A	6: 120,430,215	H1464N	probably benign	Het
Klb	A	T	5: 65,379,340	Y671F	probably damaging	Het
Kremen2	C	A	17: 23,741,885	R421L	possibly damaging	Het
Mroh9	T	A	1: 163,039,181	D662V	probably damaging	Het
Mtmr12	T	G	15: 12,257,670	M278R	probably null	Het
Ndufa8	T	C	2: 36,044,435	M44V	possibly damaging	Het
Nedd4l	A	T	18: 65,205,651	R695S	probably damaging	Het
Nuf2	G	A	1: 169,522,419	P97S	probably damaging	Het
Olfr1018	T	C	2: 85,823,052	V27A	probably benign	Het
Olfr206	T	C	16: 59,345,204	T166A	possibly damaging	Het
Olfr310	A	C	7: 86,269,537	L84R	probably damaging	Het
P4ha2	A	G	11: 54,110,994	T33A	probably benign	Het
Parp1	A	G	1: 180,588,668	H544R	probably damaging	Het
Plec	A	G	15: 76,177,769	L2678P	probably damaging	Het
Rad1	T	A	15: 10,490,293	Y85*	probably null	Het
Sema6d	A	G	2: 124,657,821	I309V	probably benign	Het
Skint2	T	C	4: 112,624,351	V137A	probably damaging	Het
Slc23a3	T	C	1: 75,133,233	N130S	probably benign	Het
Slc35f1	T	C	10: 53,062,500	F176S	probably damaging	Het
Slc44a2	T	A	9: 21,320,848	Y10N	probably benign	Het
Smarcc1	A	G	9: 110,185,884	T506A	probably damaging	Het
Smchd1	A	T	17: 71,387,092	S1219R	probably benign	Het
Smco1	A	G	16: 32,274,111	N200S	probably benign	Het
Srcap	A	G	7: 127,541,943	T1571A	probably benign	Het
Strip2	C	T	6: 29,932,208	T459I	probably benign	Het
Tcl1b1	T	A	12: 105,159,693		probably benign	Het
Tdrd5	T	C	1: 156,284,271	E436G	probably damaging	Het
Trim31	T	A	17: 36,898,516	C55S	probably damaging	Het
Tsr1	G	T	11: 74,903,919	E467*	probably null	Het
Tulp4	T	A	17: 6,185,289	D178E	probably damaging	Het
Vmn1r30	A	G	6: 58,435,010	V279A	possibly damaging	Het
Vmn2r98	A	G	17: 19,065,313	R132G	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
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
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'- GGCACATGAAAAGGTTTTGGC -3'
(R):5'- GCCCTTACTTACTGGAACCC -3'

Sequencing Primer
(F):5'- CACATGAAAAGGTTTTGGCATTGAG -3'
(R):5'- GGAACCCAGGTTGACTTAATTTATCC -3'

Posted On

2019-05-13