Mutagenetix > Incidental Mutation

Incidental Mutation 'R4953:Tarbp1'

381403

Institutional Source

Beutler Lab

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

MMRRC Submission

042550-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4953 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126447445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 874 (E874G)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

AlphaFold

E9Q368

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170518
AA Change: E874G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: E874G

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

Meta Mutation Damage Score

0.1626

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,074,376	Y129H	probably damaging	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Adgre1	G	A	17: 57,441,321	G507E	probably damaging	Het
Agpat5	G	A	8: 18,868,955	V118I	probably benign	Het
Aif1	T	C	17: 35,171,098		probably null	Het
Akr1c6	A	T	13: 4,438,609		probably null	Het
Akt2	T	A	7: 27,638,172		probably null	Het
Ankrd35	T	A	3: 96,683,673	L425Q	possibly damaging	Het
Arhgap40	A	G	2: 158,543,406	T520A	possibly damaging	Het
Arhgef28	T	A	13: 97,929,554	D1597V	possibly damaging	Het
Aspm	A	G	1: 139,471,734	D1079G	probably benign	Het
Atp1a2	A	T	1: 172,291,442		probably benign	Het
Cage1	C	A	13: 38,023,430	E252D	possibly damaging	Het
Ccdc185	A	G	1: 182,749,017	S36P	possibly damaging	Het
Cd300a	T	C	11: 114,893,421	V85A	probably damaging	Het
Cd38	A	C	5: 43,907,545	D235A	possibly damaging	Het
Cdcp1	T	C	9: 123,180,023	K530R	probably benign	Het
Ceacam20	T	A	7: 19,971,726	L214Q	probably damaging	Het
Cntn4	G	A	6: 106,525,418	A379T	probably benign	Het
Col4a2	A	T	8: 11,429,505	E796V	probably benign	Het
Copa	A	G	1: 172,082,886		probably benign	Het
Cpa5	A	G	6: 30,631,364	T426A	possibly damaging	Het
Csmd1	A	G	8: 16,199,917	F1016L	probably damaging	Het
Cyb5r3	A	T	15: 83,158,621	L290*	probably null	Het
Ddx42	A	G	11: 106,242,940	T581A	probably damaging	Het
Deaf1	C	T	7: 141,322,468	G221S	probably damaging	Het
Dnah6	A	G	6: 73,188,383	S580P	probably benign	Het
Dock1	A	G	7: 135,152,288	E1598G	probably benign	Het
Drg2	T	C	11: 60,459,436		probably benign	Het
Eif3f	C	A	7: 108,934,640		probably benign	Het
Fam184a	G	T	10: 53,698,805	T236K	probably benign	Het
Gas7	C	T	11: 67,660,050	T126M	possibly damaging	Het
Gckr	T	G	5: 31,308,264	F408C	probably damaging	Het
Gm17472	A	G	6: 42,981,070	D91G	probably damaging	Het
Gm5117	G	A	8: 31,738,580		noncoding transcript	Het
Gsto1	T	A	19: 47,855,320	I47N	probably damaging	Het
Hck	C	T	2: 153,134,677	P244S	probably damaging	Het
Hif3a	T	C	7: 17,050,565	T250A	probably damaging	Het
Hmcn1	A	T	1: 150,876,360		probably benign	Het
Impa1	G	A	3: 10,315,280	S247F	probably damaging	Het
Ints14	G	C	9: 64,982,058	R397P	probably damaging	Het
Iqgap1	T	C	7: 80,723,776		probably null	Het
Krt2	T	C	15: 101,813,942	K436R	probably damaging	Het
Lama3	G	A	18: 12,448,305	C607Y	probably damaging	Het
Loxl4	G	T	19: 42,610,694		probably benign	Het
Lrrc8d	C	T	5: 105,813,368	T548M	probably damaging	Het
Man1b1	T	A	2: 25,338,184	D155E	probably damaging	Het
Mapk8ip2	C	T	15: 89,457,228	P214L	probably benign	Het
Mast1	G	A	8: 84,918,728	T696I	probably damaging	Het
Muc15	C	T	2: 110,731,272	P18S	probably damaging	Het
Mybl2	T	C	2: 163,080,796	S205P	probably damaging	Het
Mylk	T	C	16: 34,988,961	S1763P	probably damaging	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nfib	A	G	4: 82,353,571	M252T	probably benign	Het
Nid2	C	A	14: 19,778,078	Y261*	probably null	Het
Nmd3	C	T	3: 69,731,637	R187C	possibly damaging	Het
Nomo1	G	T	7: 46,050,731		probably benign	Het
Npy4r	A	G	14: 34,146,480	F284L	probably damaging	Het
Nt5dc2	T	C	14: 31,138,921	V351A	possibly damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1480	T	A	19: 13,529,814	L91Q	probably null	Het
Olfr996	T	A	2: 85,579,725	L162*	probably null	Het
Pcdhb12	T	A	18: 37,436,156	D118E	probably damaging	Het
Pdcd11	C	T	19: 47,127,965	T1518I	probably benign	Het
Pde6a	T	A	18: 61,231,362	C163*	probably null	Het
Pign	A	T	1: 105,644,502	W314R	probably benign	Het
Pip5k1b	T	A	19: 24,390,435	H76L	probably damaging	Het
Plcz1	T	C	6: 140,028,551	N55S	possibly damaging	Het
Pou5f1	A	T	17: 35,510,541	H350L	possibly damaging	Het
Rchy1	A	T	5: 91,962,628		probably null	Het
Ric8b	A	G	10: 84,958,082	T270A	possibly damaging	Het
Rprml	A	G	11: 103,649,818	E13G	probably benign	Het
Secisbp2	T	A	13: 51,682,027	I719N	probably damaging	Het
Sergef	C	T	7: 46,633,835	R148H	probably benign	Het
Serpina6	T	A	12: 103,651,962		probably null	Het
Sirpb1b	C	A	3: 15,548,827	W65L	probably damaging	Het
Slc32a1	A	T	2: 158,614,057	I211F	possibly damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Smarce1	A	G	11: 99,215,151	V226A	probably benign	Het
Spata31d1b	A	T	13: 59,716,283	E415V	probably damaging	Het
Speg	G	A	1: 75,423,864	R2556H	possibly damaging	Het
Suclg2	A	C	6: 95,566,436	V338G	probably damaging	Het
Tex14	G	T	11: 87,536,901		probably null	Het
Trim36	T	A	18: 46,196,178	D53V	possibly damaging	Het
Tsga10ip	T	A	19: 5,394,340	Y21F	possibly damaging	Het
Ttn	C	T	2: 76,789,945	V15849M	probably damaging	Het
Ube3b	T	C	5: 114,401,410	S421P	probably benign	Het
Unc5a	A	T	13: 54,999,870	M498L	probably benign	Het
Vipr2	A	G	12: 116,144,256	I420M	probably benign	Het
Vmn1r179	T	A	7: 23,929,090	H235Q	probably damaging	Het
Vps35	T	A	8: 85,281,846	I267F	probably damaging	Het
Wdr26	G	A	1: 181,197,651	R279W	probably damaging	Het
Xpo6	C	A	7: 126,169,271	R88L	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfp105	T	A	9: 122,929,815	S184T	probably benign	Het
Zfp574	G	A	7: 25,080,963	R470H	probably damaging	Het
Zswim9	T	A	7: 13,269,558	H122L	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
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
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'- ACAGTGTCAATCTCCACCGC -3'
(R):5'- GCCCCATATGCCAAAGAAGTG -3'

Sequencing Primer
(F):5'- TCCACCGCAACACTGTTG -3'
(R):5'- AGTTGGGAAACTGAGCCTTAGTATC -3'

Posted On

2016-04-27