Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01475:Tarbp1'

88417

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01475

Quality Score

Status

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126433962 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1250 (V1250A)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170518
AA Change: V1250A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: V1250A

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	T	14: 59,142,803	N15K	possibly damaging	Het
4833427G06Rik	A	G	9: 51,100,058	I93T	probably benign	Het
Adam32	A	T	8: 24,872,648	I587K	probably damaging	Het
Adamtsl4	T	C	3: 95,677,533	S942G	probably benign	Het
Adamtsl5	A	G	10: 80,344,916	F104S	probably damaging	Het
Adgrf5	A	G	17: 43,450,354	D980G	probably benign	Het
Apba1	A	T	19: 23,917,586	D462V	possibly damaging	Het
Arhgef11	T	C	3: 87,727,126		probably benign	Het
Cd74	T	C	18: 60,810,321		probably benign	Het
Cdc16	T	C	8: 13,781,542	S592P	probably benign	Het
Cenpj	A	G	14: 56,565,045	M21T	possibly damaging	Het
Col28a1	A	G	6: 8,103,521	L425S	probably damaging	Het
Dbt	C	T	3: 116,520,259	T25I	possibly damaging	Het
Dguok	C	A	6: 83,490,570	M98I	possibly damaging	Het
Dmxl1	T	C	18: 49,871,714	L943P	probably damaging	Het
Eloa	G	A	4: 136,010,920	S243L	probably benign	Het
Enkur	C	A	2: 21,196,719	A52S	probably damaging	Het
Ezh1	T	C	11: 101,192,961	E744G	probably damaging	Het
Fbxw11	T	C	11: 32,722,101	S190P	possibly damaging	Het
Foxb1	G	A	9: 69,759,268		probably benign	Het
Gabra5	C	T	7: 57,408,684	G439S	probably damaging	Het
Gtf2h2	A	T	13: 100,481,033	V207D	probably damaging	Het
Krt76	A	G	15: 101,888,513	V317A	probably benign	Het
Lair1	C	A	7: 4,009,684		probably benign	Het
Lrit2	T	A	14: 37,069,094	H243Q	probably damaging	Het
Mast3	C	T	8: 70,779,530	A1268T	probably damaging	Het
Matn2	G	A	15: 34,316,525	M4I	possibly damaging	Het
Mob1b	T	A	5: 88,749,643	F137I	probably damaging	Het
Mreg	T	C	1: 72,164,166		probably benign	Het
Nom1	T	C	5: 29,446,274	V684A	possibly damaging	Het
Pate2	T	A	9: 35,669,702	L1Q	probably null	Het
Pla2r1	T	C	2: 60,441,081		probably benign	Het
Plxna1	A	G	6: 89,354,888	F447L	possibly damaging	Het
Pno1	A	T	11: 17,210,992	I114N	probably damaging	Het
Ppp1r7	T	G	1: 93,360,818		probably benign	Het
Pprc1	T	A	19: 46,071,529	Y1503N	probably benign	Het
Rab30	T	C	7: 92,835,722	V132A	probably damaging	Het
Slc15a4	T	C	5: 127,601,960	T439A	probably benign	Het
Slc29a3	A	G	10: 60,723,817	V186A	possibly damaging	Het
Stxbp5l	G	A	16: 37,345,092	T88I	possibly damaging	Het
Tcte2	A	T	17: 13,717,562		probably benign	Het
Trp53bp1	A	T	2: 121,270,319		probably null	Het
Trpc4	A	T	3: 54,266,407	L407F	possibly damaging	Het
Vmn1r6	T	C	6: 57,002,911	F164S	probably damaging	Het
Zfp579	C	A	7: 4,994,744	R56L	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
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

Posted On

2013-11-18