Mutagenetix > Incidental Mutation

Incidental Mutation 'R9670:Tarbp1'

728004

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 #

R9670 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127152068-127201804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127183262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 519 (L519Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

AlphaFold

E9Q368

Predicted Effect

probably null
Transcript: ENSMUST00000170518
AA Change: L519Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: L519Q

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,770,894 (GRCm39)	T28A	probably benign	Het
Adam15	T	C	3: 89,253,270 (GRCm39)	I220V	probably benign	Het
Atf7ip2	T	A	16: 10,058,512 (GRCm39)	V317E	probably benign	Het
Bin3	T	G	14: 70,367,009 (GRCm39)		probably null	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Brd2	T	C	17: 34,334,205 (GRCm39)	T286A	possibly damaging	Het
Cers6	A	G	2: 68,833,114 (GRCm39)	Y144C	probably benign	Het
Cox4i2	C	A	2: 152,602,610 (GRCm39)	N101K	probably damaging	Het
Dguok	T	A	6: 83,463,999 (GRCm39)	L186F	probably benign	Het
Dock8	A	G	19: 25,148,926 (GRCm39)	N1468S	probably null	Het
Eral1	T	C	11: 77,965,410 (GRCm39)	H335R		Het
Gm3248	A	T	14: 5,944,993 (GRCm38)	I63K	probably benign	Het
Gm3415	A	C	5: 146,493,376 (GRCm39)	I74L	probably benign	Het
Kdm5b	A	T	1: 134,558,240 (GRCm39)	R1416*	probably null	Het
Lrit2	T	A	14: 36,790,115 (GRCm39)	C28*	probably null	Het
Mctp1	A	T	13: 76,532,840 (GRCm39)	T63S	probably benign	Het
Ncbp3	T	A	11: 72,944,323 (GRCm39)	N108K	possibly damaging	Het
Nlrp4b	A	G	7: 10,448,651 (GRCm39)	I285V	probably benign	Het
Nup85	C	T	11: 115,457,471 (GRCm39)	R58W	probably benign	Het
Pcnx4	T	C	12: 72,613,792 (GRCm39)	V579A	probably benign	Het
Pde10a	T	C	17: 9,020,272 (GRCm39)	S70P	unknown	Het
Pfpl	T	C	19: 12,407,107 (GRCm39)	F453L	probably damaging	Het
Ppp3cb	C	A	14: 20,578,314 (GRCm39)	L145F	probably damaging	Het
Prg4	T	C	1: 150,326,618 (GRCm39)	K357R	probably benign	Het
Prkcb	G	T	7: 122,233,070 (GRCm39)	E656*	probably null	Het
Prrc2b	C	A	2: 32,103,199 (GRCm39)	H892Q	probably benign	Het
Pxk	T	C	14: 8,140,748 (GRCm38)		probably null	Het
Ruvbl1	T	C	6: 88,444,558 (GRCm39)	V51A	probably benign	Het
Ryr3	C	A	2: 112,560,845 (GRCm39)	R2972L	probably benign	Het
Sec14l1	A	G	11: 117,046,058 (GRCm39)	I542V	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sgk1	AAGA	AAGAGA	10: 21,868,290 (GRCm39)		probably null	Het
Slc26a9	C	A	1: 131,681,688 (GRCm39)	A167E	probably benign	Het
Trak2	G	A	1: 58,985,463 (GRCm39)	R12*	probably null	Het
Ush2a	A	G	1: 188,360,768 (GRCm39)	I2163V	probably benign	Het
Vmn2r114	T	A	17: 23,531,098 (GRCm39)	N64Y		Het
Wdfy4	T	C	14: 32,769,219 (GRCm39)	Y2236C		Het
Zfp316	A	T	5: 143,240,348 (GRCm39)	V557E	possibly damaging	Het

Other mutations in Tarbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Tarbp1	APN	8	127,185,900 (GRCm39)	missense	probably damaging	1.00
IGL01419:Tarbp1	APN	8	127,154,894 (GRCm39)	missense	probably benign	0.03
IGL01475:Tarbp1	APN	8	127,160,701 (GRCm39)	missense	probably benign	0.03
IGL01688:Tarbp1	APN	8	127,174,290 (GRCm39)	missense	probably damaging	1.00
IGL01772:Tarbp1	APN	8	127,173,970 (GRCm39)	splice site	probably benign
IGL02402:Tarbp1	APN	8	127,177,567 (GRCm39)	splice site	probably benign
IGL02899:Tarbp1	APN	8	127,180,583 (GRCm39)	missense	probably damaging	0.96
IGL03006:Tarbp1	APN	8	127,170,881 (GRCm39)	missense	probably damaging	1.00
IGL03273:Tarbp1	APN	8	127,180,574 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Tarbp1	UTSW	8	127,157,586 (GRCm39)	missense	probably damaging	0.96
R0048:Tarbp1	UTSW	8	127,174,269 (GRCm39)	missense	probably damaging	1.00
R0309:Tarbp1	UTSW	8	127,165,667 (GRCm39)	splice site	probably benign
R0383:Tarbp1	UTSW	8	127,174,223 (GRCm39)	missense	probably benign	0.00
R0455:Tarbp1	UTSW	8	127,167,612 (GRCm39)	missense	probably benign	0.00
R0738:Tarbp1	UTSW	8	127,165,540 (GRCm39)	critical splice donor site	probably null
R1345:Tarbp1	UTSW	8	127,175,069 (GRCm39)	missense	probably benign	0.03
R1370:Tarbp1	UTSW	8	127,175,069 (GRCm39)	missense	probably benign	0.03
R1617:Tarbp1	UTSW	8	127,171,007 (GRCm39)	missense	possibly damaging	0.47
R1628:Tarbp1	UTSW	8	127,157,599 (GRCm39)	missense	possibly damaging	0.78
R1702:Tarbp1	UTSW	8	127,154,957 (GRCm39)	missense	probably damaging	1.00
R1873:Tarbp1	UTSW	8	127,173,786 (GRCm39)	missense	probably damaging	1.00
R2018:Tarbp1	UTSW	8	127,154,853 (GRCm39)	missense	probably damaging	1.00
R2019:Tarbp1	UTSW	8	127,154,853 (GRCm39)	missense	probably damaging	1.00
R2060:Tarbp1	UTSW	8	127,174,333 (GRCm39)	splice site	probably null
R2877:Tarbp1	UTSW	8	127,154,571 (GRCm39)	missense	probably damaging	1.00
R3008:Tarbp1	UTSW	8	127,174,160 (GRCm39)	missense	possibly damaging	0.46
R3875:Tarbp1	UTSW	8	127,165,538 (GRCm39)	splice site	probably benign
R3905:Tarbp1	UTSW	8	127,154,891 (GRCm39)	missense	probably damaging	1.00
R3923:Tarbp1	UTSW	8	127,167,510 (GRCm39)	missense	probably benign	0.00
R4420:Tarbp1	UTSW	8	127,173,819 (GRCm39)	missense	possibly damaging	0.59
R4570:Tarbp1	UTSW	8	127,178,972 (GRCm39)	missense	probably benign	0.00
R4610:Tarbp1	UTSW	8	127,201,069 (GRCm39)	missense	probably damaging	1.00
R4649:Tarbp1	UTSW	8	127,173,934 (GRCm39)	missense	probably damaging	0.96
R4802:Tarbp1	UTSW	8	127,201,628 (GRCm39)	missense	possibly damaging	0.75
R4951:Tarbp1	UTSW	8	127,174,184 (GRCm39)	missense	possibly damaging	0.94
R4953:Tarbp1	UTSW	8	127,174,184 (GRCm39)	missense	possibly damaging	0.94
R5254:Tarbp1	UTSW	8	127,193,895 (GRCm39)	missense	probably damaging	0.96
R5255:Tarbp1	UTSW	8	127,155,709 (GRCm39)	missense	probably benign	0.16
R5638:Tarbp1	UTSW	8	127,177,425 (GRCm39)	missense	probably damaging	1.00
R5696:Tarbp1	UTSW	8	127,174,079 (GRCm39)	missense	probably damaging	0.98
R5707:Tarbp1	UTSW	8	127,193,883 (GRCm39)	missense	probably damaging	1.00
R5896:Tarbp1	UTSW	8	127,179,667 (GRCm39)	missense	probably benign	0.05
R6087:Tarbp1	UTSW	8	127,155,709 (GRCm39)	missense	probably benign	0.00
R6117:Tarbp1	UTSW	8	127,154,280 (GRCm39)	missense	probably benign	0.00
R6132:Tarbp1	UTSW	8	127,161,548 (GRCm39)	missense	probably benign	0.17
R6168:Tarbp1	UTSW	8	127,175,144 (GRCm39)	missense	possibly damaging	0.89
R6419:Tarbp1	UTSW	8	127,185,783 (GRCm39)	missense	possibly damaging	0.95
R6482:Tarbp1	UTSW	8	127,177,434 (GRCm39)	missense	probably benign	0.01
R6766:Tarbp1	UTSW	8	127,174,139 (GRCm39)	missense	probably benign	0.41
R6775:Tarbp1	UTSW	8	127,163,568 (GRCm39)	missense	probably benign	0.16
R6960:Tarbp1	UTSW	8	127,155,778 (GRCm39)	missense	possibly damaging	0.88
R7054:Tarbp1	UTSW	8	127,201,234 (GRCm39)	missense	possibly damaging	0.85
R7068:Tarbp1	UTSW	8	127,153,773 (GRCm39)	missense	probably damaging	1.00
R7454:Tarbp1	UTSW	8	127,184,416 (GRCm39)	missense	probably benign	0.19
R7519:Tarbp1	UTSW	8	127,160,639 (GRCm39)	missense	possibly damaging	0.87
R7760:Tarbp1	UTSW	8	127,179,546 (GRCm39)	missense	not run
R7837:Tarbp1	UTSW	8	127,201,300 (GRCm39)	missense	probably benign	0.00
R7882:Tarbp1	UTSW	8	127,183,232 (GRCm39)	missense	probably damaging	1.00
R7982:Tarbp1	UTSW	8	127,171,040 (GRCm39)	missense	probably damaging	1.00
R8166:Tarbp1	UTSW	8	127,153,867 (GRCm39)	missense	possibly damaging	0.79
R8517:Tarbp1	UTSW	8	127,170,934 (GRCm39)	missense	probably benign	0.29
R8838:Tarbp1	UTSW	8	127,177,569 (GRCm39)	splice site	probably benign
R8880:Tarbp1	UTSW	8	127,198,044 (GRCm39)	missense	probably damaging	1.00
R9061:Tarbp1	UTSW	8	127,173,880 (GRCm39)	missense	probably damaging	1.00
R9123:Tarbp1	UTSW	8	127,174,202 (GRCm39)	missense	possibly damaging	0.63
R9125:Tarbp1	UTSW	8	127,174,202 (GRCm39)	missense	possibly damaging	0.63
R9364:Tarbp1	UTSW	8	127,177,462 (GRCm39)	missense	probably benign	0.01
R9474:Tarbp1	UTSW	8	127,155,779 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TGATACAATCTCATGGGGCCG -3'
(R):5'- TGTGTACACTGAACGGGTC -3'

Sequencing Primer
(F):5'- CCGCCATTCATTGAAGTATGAGG -3'
(R):5'- GGTCTTCCCAGCTCCTGTAC -3'

Posted On

2022-10-06