Mutagenetix > Incidental Mutation

Incidental Mutation 'R7454:Tarbp1'

578002

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 #

R7454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 126457677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 500 (R500L)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

AlphaFold

E9Q368

Predicted Effect

probably benign
Transcript: ENSMUST00000170518
AA Change: R500L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: R500L

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: 99.1%

Validation Efficiency

100% (90/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,836,851	E57G	possibly damaging	Het
4932414N04Rik	C	A	2: 68,688,304	T159K	unknown	Het
Adamts10	T	A	17: 33,545,005	F616L	possibly damaging	Het
Adtrp	G	A	13: 41,828,315	S26L	unknown	Het
Alpk3	A	C	7: 81,078,562	E480A	probably benign	Het
Anks6	T	C	4: 47,038,919	T529A	unknown	Het
Arl4d	A	G	11: 101,666,660	H4R	probably benign	Het
Ash1l	A	G	3: 88,983,865	H1017R	probably benign	Het
Bbs12	T	C	3: 37,320,953	S517P	possibly damaging	Het
Bcl11b	C	A	12: 107,916,208	R616L	possibly damaging	Het
Bean1	G	A	8: 104,211,026	G79D	probably damaging	Het
Bicra	C	G	7: 15,972,134	G1461R	probably benign	Het
Bptf	T	C	11: 107,044,640	T124A	probably benign	Het
Btnl4	A	T	17: 34,472,374	V312E	probably benign	Het
Ccdc7a	A	G	8: 128,944,516	M503T	unknown	Het
Celf5	T	C	10: 81,482,523	E28G	probably damaging	Het
Cilp2	G	A	8: 69,883,390	L350F	probably damaging	Het
Clec4a2	T	C	6: 123,142,452	I245T	probably damaging	Het
Ctnnal1	A	T	4: 56,844,544	V140D	probably damaging	Het
Dennd4a	A	C	9: 64,852,570	H319P	probably damaging	Het
Dlgap3	G	T	4: 127,235,059	L857F	probably null	Het
Dnah6	T	A	6: 73,212,492	T58S	probably damaging	Het
Dnah7a	T	A	1: 53,518,764	M2164L	probably benign	Het
Dspp	T	A	5: 104,175,610	H206Q	probably benign	Het
Dzip1l	G	A	9: 99,659,674	V443M	possibly damaging	Het
Erc2	A	G	14: 28,302,991	H939R	possibly damaging	Het
Fam149a	G	T	8: 45,348,546	H513N	probably benign	Het
Fam171a2	T	C	11: 102,439,717	T280A	possibly damaging	Het
Fam208b	A	G	13: 3,585,332	S492P	probably benign	Het
Fkbp5	A	C	17: 28,416,025	V170G	probably damaging	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,777,815		probably benign	Het
Fzd2	T	C	11: 102,605,129	F133S	probably damaging	Het
Galm	A	G	17: 80,138,121	N100S	possibly damaging	Het
Gbp2b	T	A	3: 142,598,159	I5N	possibly damaging	Het
Gga2	T	C	7: 122,002,146	R245G	probably benign	Het
Gm10053	A	G	19: 24,875,900	T50A	probably benign	Het
Gm1110	T	C	9: 26,920,649	T69A	probably benign	Het
Gm15922	T	G	7: 3,735,510	E622D	probably benign	Het
Heatr5a	T	C	12: 51,961,543	S6G	probably benign	Het
Hmcn1	A	G	1: 150,563,604	S5610P	probably damaging	Het
Hmgb4	A	G	4: 128,260,406	V123A	probably damaging	Het
Itgal	C	A	7: 127,327,764	Q943K	probably benign	Het
Jakmip1	C	A	5: 37,175,154	D1059E	probably damaging	Het
Jazf1	T	C	6: 52,893,944		probably null	Het
Kat6a	A	G	8: 22,935,772	E1111G	possibly damaging	Het
Kdm4b	C	A	17: 56,389,639	P452T	probably benign	Het
Krit1	T	C	5: 3,812,474	Y210H	probably damaging	Het
Krtap6-2	A	T	16: 89,419,912	Y56N	unknown	Het
Lig1	A	T	7: 13,288,721	D158V	probably damaging	Het
Lmo1	A	T	7: 109,140,666	L94Q	probably benign	Het
Lrrc30	A	T	17: 67,632,243	L114H	probably damaging	Het
Ltn1	T	C	16: 87,397,812	I1400V	probably benign	Het
Mark3	T	C	12: 111,604,527	I87T	probably damaging	Het
Mfrp	G	T	9: 44,105,183	V392F	possibly damaging	Het
Mrgprg	A	G	7: 143,765,135	L80P	probably damaging	Het
Ndufaf3	A	T	9: 108,566,926	M1K	probably null	Het
Nme7	T	A	1: 164,380,648	L295*	probably null	Het
Noct	G	T	3: 51,249,730	C163F	probably damaging	Het
Olfr1270	T	A	2: 90,149,419	I196F	possibly damaging	Het
Olfr229	A	G	9: 39,909,904	I34V	probably benign	Het
Olfr541	A	T	7: 140,704,634	I128F	probably damaging	Het
Olfr747	T	A	14: 50,680,824	Q270L	possibly damaging	Het
Olfr772	T	A	10: 129,174,455	T189S	probably damaging	Het
Olfr992	T	A	2: 85,399,611	K307N	probably damaging	Het
Patz1	C	T	11: 3,298,297		probably benign	Het
Per3	A	G	4: 151,012,728	L780P	probably benign	Het
Pla2g4a	T	C	1: 149,872,690	M256V	possibly damaging	Het
Pnliprp1	A	G	19: 58,741,100	K395R	probably benign	Het
Poc5	G	T	13: 96,400,832	G242V	possibly damaging	Het
Ppfia4	A	G	1: 134,324,135	S434P	possibly damaging	Het
Prss42	A	G	9: 110,798,829	N110S	probably benign	Het
Ralgapb	T	A	2: 158,432,902	I241N	possibly damaging	Het
Rbak	A	C	5: 143,173,773	Y508*	probably null	Het
S1pr2	G	T	9: 20,967,549	R328S	possibly damaging	Het
Sap130	T	C	18: 31,650,512	M214T	probably benign	Het
Slc46a1	T	A	11: 78,466,511	V130E	probably damaging	Het
Smc4	A	T	3: 69,018,124	H343L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Tpp2	T	C	1: 43,954,659	S235P	probably benign	Het
Trbc2	G	T	6: 41,546,829	R33M		Het
Trim3	C	T	7: 105,619,558	R63Q	probably damaging	Het
Ttc28	T	C	5: 111,285,484	V2128A	probably benign	Het
Ttn	C	T	2: 76,725,818	R30281H	probably damaging	Het
Ttn	T	A	2: 76,944,139	Q2187L	unknown	Het
Ttyh3	T	C	5: 140,629,425	S403G	possibly damaging	Het
Vmn2r112	A	T	17: 22,603,307	D322V	probably benign	Het
Wdr38	C	T	2: 38,998,340		probably benign	Het
Xrn1	T	A	9: 96,048,358	S1543R	probably benign	Het
Zbtb8b	G	A	4: 129,432,769	T201I	possibly 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
R7054:Tarbp1	UTSW	8	126474495	missense	possibly damaging	0.85
R7068:Tarbp1	UTSW	8	126427034	missense	probably damaging	1.00
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'- TCACAAATGCTGGCATTCCC -3'
(R):5'- ACTTCTGATGACGGCCACTC -3'

Sequencing Primer
(F):5'- ATGCTGGCATTCCCAAGCC -3'
(R):5'- ATGACGGCCACTCCTGGTG -3'

Posted On

2019-10-07