Mutagenetix > Incidental Mutation

Incidental Mutation 'R5696:Tarbp1'

450675

Institutional Source

Beutler Lab

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 126447340 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 909 (M909R)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

AlphaFold

E9Q368

Predicted Effect

probably damaging
Transcript: ENSMUST00000170518
AA Change: M909R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: M909R

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	G	A	7: 139,989,246	R186W	probably benign	Het
Afg3l2	A	G	18: 67,407,459	I660T	probably damaging	Het
Amtn	T	A	5: 88,385,085	Y186*	probably null	Het
Atrip	A	G	9: 109,065,501	S453P	possibly damaging	Het
Bahcc1	T	C	11: 120,273,987	L840P	probably damaging	Het
Capn2	T	C	1: 182,478,600	E527G	possibly damaging	Het
Caprin2	A	T	6: 148,877,818	Y164N	possibly damaging	Het
Ccnh	T	A	13: 85,196,327		probably null	Het
Cdon	G	T	9: 35,491,866	V1091F	possibly damaging	Het
Ceacam14	A	G	7: 17,814,342	Y119C	probably damaging	Het
Ces2h	A	G	8: 105,018,979	K445E	possibly damaging	Het
Cfap46	A	G	7: 139,612,031	S2357P	probably damaging	Het
Commd4	A	T	9: 57,156,215	S86R	possibly damaging	Het
Cpsf6	A	T	10: 117,361,029		probably benign	Het
Dag1	A	T	9: 108,209,447	V165E	probably benign	Het
Dmxl1	A	T	18: 49,931,941	K2618*	probably null	Het
Dnah17	A	G	11: 118,101,056	Y1229H	probably benign	Het
Endov	T	A	11: 119,491,799	L24Q	probably damaging	Het
Fam214a	A	G	9: 75,010,117	E666G	probably benign	Het
Fap	C	T	2: 62,502,459	V717M	probably damaging	Het
Fbxl2	A	G	9: 113,986,478	L239P	probably damaging	Het
Fbxl5	A	T	5: 43,758,840	V367D	possibly damaging	Het
Fkbp10	G	T	11: 100,423,526	W384L	probably damaging	Het
Gbp8	C	T	5: 105,018,816	V216I	possibly damaging	Het
Gclm	G	A	3: 122,266,287	A239T	probably benign	Het
Gm11569	C	T	11: 99,798,730		probably benign	Het
Gm14124	C	T	2: 150,269,474	H695Y	possibly damaging	Het
Gnas	C	A	2: 174,299,675		probably benign	Het
Grb10	T	A	11: 11,933,566	N508I	probably benign	Het
Gykl1	T	G	18: 52,694,195	I158M	probably benign	Het
Ide	G	A	19: 37,318,021	T214M	unknown	Het
Il12rb2	T	A	6: 67,295,278	Q341H	possibly damaging	Het
Ints1	T	C	5: 139,754,989	E1946G	probably benign	Het
Kdelr3	T	C	15: 79,525,899		probably null	Het
Kif1b	A	C	4: 149,273,849		probably null	Het
Kri1	A	G	9: 21,280,237	I320T	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Lin9	T	C	1: 180,659,081	S111P	probably benign	Het
Lpcat2b	C	A	5: 107,432,907	P34Q	probably damaging	Het
Ltk	T	A	2: 119,759,599	T49S	probably benign	Het
Map3k9	A	T	12: 81,734,122	H421Q	probably benign	Het
Mapkbp1	T	A	2: 120,021,720		probably null	Het
Mcm4	A	G	16: 15,625,570	S830P	probably damaging	Het
Nek10	T	A	14: 14,860,736		probably null	Het
Nlrp9b	A	T	7: 20,024,492	R551S	probably benign	Het
Nol4l	T	C	2: 153,418,106	T143A	probably damaging	Het
Olfr1346	T	C	7: 6,474,743		probably null	Het
Olfr1355	A	T	10: 78,880,085	R304S	probably benign	Het
Olfr398	T	C	11: 73,984,536	H24R	possibly damaging	Het
Olfr578	T	A	7: 102,984,541	T208S	probably benign	Het
Pde4dip	G	T	3: 97,709,490	A1812D	probably damaging	Het
Plekhb1	C	A	7: 100,656,753	G26C	probably damaging	Het
Polr1a	T	A	6: 71,929,426	F409I	probably benign	Het
Ptpn13	T	A	5: 103,554,759	M1197K	probably benign	Het
Qrich2	T	C	11: 116,445,002	I2114V	probably damaging	Het
Rbm27	T	C	18: 42,317,666	Y449H	probably damaging	Het
Rp1l1	A	G	14: 64,029,746	D927G	probably damaging	Het
Secisbp2	C	A	13: 51,679,821	Q666K	probably damaging	Het
Slc45a2	T	C	15: 11,001,133	I106T	probably damaging	Het
Slx4	G	T	16: 3,979,967	Q1518K	probably damaging	Het
Smim10l1	T	C	6: 133,105,526	F12S	probably damaging	Het
Son	T	C	16: 91,671,413	V306A	possibly damaging	Het
Stab1	A	G	14: 31,160,221	S506P	probably benign	Het
Syne2	A	C	12: 75,994,145	D3859A	probably benign	Het
Tab1	T	A	15: 80,148,729	Y71*	probably null	Het
Tex15	T	G	8: 33,573,192	S1157R	probably benign	Het
Tnni3	G	A	7: 4,520,454	T120I	probably benign	Het
Ttn	T	C	2: 76,917,544	E4387G	probably benign	Het
Ugt3a2	G	A	15: 9,361,448		silent	Het
Unc5d	T	C	8: 28,666,842	I783V	probably benign	Het
Usp40	T	C	1: 87,995,752	T266A	probably benign	Het
Vmn2r59	C	T	7: 42,046,044	V315I	probably benign	Het
Zbtb48	G	T	4: 152,020,610	H532N	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
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'- TTAGGCCAGAACGTCAGCTG -3'
(R):5'- TATCTACATGATCAGTGGGTCTGC -3'

Sequencing Primer
(F):5'- CCAGAACGTCAGCTGTGTGTTG -3'
(R):5'- ATGATCAGTGGGTCTGCCTCTC -3'

Posted On

2017-01-03