Mutagenetix > Incidental Mutation

Incidental Mutation 'R7054:Tarbp1'

547785

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 #

R7054 (G1)

Quality Score

116.008

Status

Validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126474495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 191 (S191C)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

AlphaFold

E9Q368

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170518
AA Change: S191C

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: S191C

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: 99.7%
20x: 99.0%

Validation Efficiency

94% (67/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	A	G	17: 47,437,189		probably null	Het
3632451O06Rik	C	A	14: 49,773,698	S184I	probably damaging	Het
4930553M12Rik	T	A	4: 88,868,249	H44L	unknown	Het
Abcc3	T	C	11: 94,365,225	K478R	probably benign	Het
Ank2	A	T	3: 126,943,303		probably benign	Het
Apod	A	G	16: 31,311,132	V2A	probably benign	Het
Aspg	T	A	12: 112,126,390	D530E	probably damaging	Het
Atxn7	A	T	14: 14,100,878	T855S	probably benign	Het
Blmh	G	C	11: 76,968,625	G351R	probably damaging	Het
Cc2d2a	C	T	5: 43,699,979	R454*	probably null	Het
Cenpp	T	C	13: 49,465,757	E188G	probably damaging	Het
Creg2	T	C	1: 39,623,208	E252G	probably benign	Het
Dot1l	A	G	10: 80,787,023	Y636C	probably damaging	Het
Dpy30	A	G	17: 74,307,840	I36T	probably benign	Het
Eed	A	G	7: 89,964,727		probably null	Het
Fmn1	A	G	2: 113,365,008	D351G	unknown	Het
Fra10ac1	C	T	19: 38,224,119		probably benign	Het
Gdpd4	T	A	7: 97,973,929	I249N	probably damaging	Het
Glb1l2	A	T	9: 26,765,127	V600D	probably null	Het
Gm13889	A	T	2: 93,957,114		probably benign	Het
Gm17654	T	A	14: 43,575,870	N188Y		Het
Gm3327	T	C	14: 44,126,275	F112S		Het
H2-Ab1	T	C	17: 34,263,342	S11P	probably benign	Het
Hcn4	T	C	9: 58,855,717	S522P	unknown	Het
Hfm1	T	C	5: 106,896,043	T576A	probably benign	Het
Hoxa1	A	G	6: 52,158,200	S8P	probably damaging	Het
Hoxd13	A	G	2: 74,669,025	Y239C	probably damaging	Het
Ifih1	T	A	2: 62,610,515	I485L	probably benign	Het
Ift52	G	A	2: 163,029,796	V183M	probably damaging	Het
Ikbkb	A	G	8: 22,671,642	V410A	possibly damaging	Het
Il22ra1	G	A	4: 135,751,162	V515I	probably benign	Het
Klk1b3	A	T	7: 44,201,439	I132F	probably damaging	Het
Limk2	T	C	11: 3,355,448	T206A	possibly damaging	Het
Llph	A	T	10: 120,231,335		probably benign	Het
Lrrc26	T	A	2: 25,290,075	D29E	probably benign	Het
Ltbp4	A	G	7: 27,307,766		probably null	Het
Mageb3	A	T	2: 121,954,492	V243E	probably damaging	Het
Mfhas1	T	C	8: 35,588,638	V89A	probably benign	Het
Mycbp2	G	A	14: 103,156,098	T2899I	possibly damaging	Het
Nckap5	A	T	1: 126,258,712		probably null	Het
Ncor1	T	C	11: 62,384,793	D530G	probably null	Het
Olfr1117-ps1	T	A	2: 87,284,431	M47K	probably benign	Het
Olfr681	C	T	7: 105,121,963	R169*	probably null	Het
Pax4	A	G	6: 28,446,323	I57T	probably damaging	Het
Peg12	T	C	7: 62,463,963	I129V	possibly damaging	Het
Pex6	G	A	17: 46,720,521	A416T	probably benign	Het
Pgghg	G	A	7: 140,944,718	R326H	probably benign	Het
Pgk2	T	A	17: 40,208,475	M21L	probably benign	Het
Polh	A	T	17: 46,198,716	W64R	probably benign	Het
Rassf7	T	A	7: 141,217,643	H256Q	probably benign	Het
Rc3h2	A	G	2: 37,375,246	M1184T	probably benign	Het
Ror1	A	T	4: 100,442,239	E936D	probably benign	Het
Slco1b2	A	T	6: 141,672,248	T440S	probably damaging	Het
Specc1	T	A	11: 62,117,778	V40E	probably damaging	Het
Timm22	A	G	11: 76,407,245	E14G	possibly damaging	Het
Tpp2	T	A	1: 43,983,158	D905E	probably damaging	Het
Trav7-5	T	C	14: 53,531,299	L108P	probably damaging	Het
Ttc37	G	A	13: 76,134,960	A769T	probably damaging	Het
Ttc9b	A	G	7: 27,654,242	T106A	probably benign	Het
Ttn	T	C	2: 76,714,668	S32697G	probably damaging	Het
Usp17la	T	G	7: 104,861,307	L373R	probably benign	Het
Vmn1r113	A	G	7: 20,787,502	N73S	probably benign	Het
Vmn1r42	T	C	6: 89,845,069	T173A	possibly damaging	Het
Vmn2r106	A	G	17: 20,278,920	V243A	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r25	T	A	6: 123,823,610	D591V	probably damaging	Het
Zc3h13	T	C	14: 75,321,787	S379P	probably benign	Het
Zfp870	T	C	17: 32,883,482	Y292C	probably damaging	Het
Zfp977	A	T	7: 42,580,362	N246K	possibly damaging	Het
Zp1	G	A	19: 10,918,740	T207M	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
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'- AGCTCTGCAGACACCTGTAC -3'
(R):5'- AGTCACTCTGGCCGAAGAAG -3'

Sequencing Primer
(F):5'- TGTACAGCCCTCTGCAGCAG -3'
(R):5'- TCTGGCCGAAGAAGCGCTG -3'

Posted On

2019-05-13