Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01688:Tarbp1'

104018

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01688

Quality Score

Status

Chromosome

Chromosomal Location

127152068-127201804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127174290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 839 (W839R)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

AlphaFold

E9Q368

Predicted Effect

probably damaging
Transcript: ENSMUST00000170518
AA Change: W839R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: W839R

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,985 (GRCm39)	L59P	probably damaging	Het
Ccin	A	T	4: 43,984,985 (GRCm39)	E464V	possibly damaging	Het
Cfap58	A	G	19: 47,963,006 (GRCm39)	D472G	probably benign	Het
Col28a1	C	T	6: 7,998,517 (GRCm39)	E1131K	probably damaging	Het
Cpne2	A	G	8: 95,281,381 (GRCm39)	T196A	possibly damaging	Het
Cul4a	A	T	8: 13,196,571 (GRCm39)	R742*	probably null	Het
Cyp21a1	T	A	17: 35,021,194 (GRCm39)	I370F	probably damaging	Het
Ddx51	T	C	5: 110,803,513 (GRCm39)	F332L	probably benign	Het
Gm8232	A	G	14: 44,671,179 (GRCm39)	D29G	unknown	Het
Got1	A	G	19: 43,512,775 (GRCm39)		probably null	Het
Gpat4	A	G	8: 23,671,861 (GRCm39)	I58T	probably benign	Het
Hdac3	T	A	18: 38,087,932 (GRCm39)	D12V	possibly damaging	Het
Helb	T	C	10: 119,944,885 (GRCm39)	H217R	probably damaging	Het
Hpf1	A	T	8: 61,349,830 (GRCm39)	I153L	probably benign	Het
Lgsn	G	A	1: 31,243,486 (GRCm39)	D523N	probably damaging	Het
Lrrc63	A	G	14: 75,322,422 (GRCm39)	S561P	possibly damaging	Het
Myh6	G	A	14: 55,201,417 (GRCm39)	T94I	possibly damaging	Het
Mzt2	T	C	16: 15,680,793 (GRCm39)		probably benign	Het
Ndufb5	T	A	3: 32,800,613 (GRCm39)	L62*	probably null	Het
Nek1	A	T	8: 61,558,631 (GRCm39)	R970*	probably null	Het
Nepro	T	C	16: 44,556,369 (GRCm39)	L509P	probably damaging	Het
Pank1	T	A	19: 34,818,252 (GRCm39)	I96F	probably damaging	Het
Parp11	C	A	6: 127,448,569 (GRCm39)	T62K	probably benign	Het
Pla2g2e	T	A	4: 138,606,781 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,515,115 (GRCm39)	Y207N	probably damaging	Het
Pomt2	T	A	12: 87,194,294 (GRCm39)	I37F	probably benign	Het
Prl6a1	T	A	13: 27,501,969 (GRCm39)	V117E	probably damaging	Het
Prmt3	T	A	7: 49,498,480 (GRCm39)		probably null	Het
Rcor3	T	A	1: 191,807,900 (GRCm39)	E20V	probably damaging	Het
Rere	A	G	4: 150,702,893 (GRCm39)	D1449G	probably damaging	Het
Ric1	T	C	19: 29,555,014 (GRCm39)	V376A	probably benign	Het
Rims1	G	A	1: 22,467,764 (GRCm39)	T873I	probably benign	Het
Rras2	T	C	7: 113,659,632 (GRCm39)	D44G	probably damaging	Het
Sbk2	C	T	7: 4,960,716 (GRCm39)		probably benign	Het
Slit1	A	G	19: 41,717,545 (GRCm39)	I73T	probably damaging	Het
Spice1	T	A	16: 44,205,073 (GRCm39)	M793K	probably benign	Het
Suco	T	C	1: 161,691,480 (GRCm39)		probably null	Het
Trpc4	T	A	3: 54,173,495 (GRCm39)		probably benign	Het
Tubgcp5	T	C	7: 55,464,766 (GRCm39)	V549A	possibly damaging	Het
Ubap2	T	A	4: 41,226,308 (GRCm39)	T182S	probably benign	Het
Wrn	A	C	8: 33,800,730 (GRCm39)		probably benign	Het
Zc3h15	A	G	2: 83,492,536 (GRCm39)	Y337C	probably damaging	Het
Zfp292	T	A	4: 34,807,855 (GRCm39)	I1730F	possibly damaging	Het
Zfp609	A	G	9: 65,611,307 (GRCm39)	V552A	probably benign	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
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
R9670:Tarbp1	UTSW	8	127,183,262 (GRCm39)	missense	probably null	1.00

Posted On

2014-01-21