Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02899:Tarbp1'

363498

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 #

IGL02899

Quality Score

Status

Chromosome

Chromosomal Location

127152068-127201804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127180583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 597 (M597T)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

AlphaFold

E9Q368

Predicted Effect

probably damaging
Transcript: ENSMUST00000170518
AA Change: M597T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: M597T

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	A	G	2: 166,710,971 (GRCm39)		probably benign	Het
Btbd7	A	G	12: 102,803,921 (GRCm39)	L373P	probably damaging	Het
Capn3	A	G	2: 120,322,382 (GRCm39)	N414S	possibly damaging	Het
Ccdc186	A	T	19: 56,781,920 (GRCm39)	I753N	probably benign	Het
Ccser2	G	A	14: 36,662,716 (GRCm39)	T156I	probably benign	Het
Celsr1	A	G	15: 85,915,927 (GRCm39)	M682T	probably damaging	Het
Cep97	C	A	16: 55,738,903 (GRCm39)	S267I	probably damaging	Het
Dhx35	A	G	2: 158,643,370 (GRCm39)	Y39C	probably damaging	Het
Dscam	A	T	16: 96,510,447 (GRCm39)	D937E	probably damaging	Het
Elmod2	A	G	8: 84,043,562 (GRCm39)	Y202H	probably damaging	Het
Fyco1	T	C	9: 123,659,396 (GRCm39)	N260S	possibly damaging	Het
Gm5591	A	G	7: 38,218,842 (GRCm39)	L677P	probably damaging	Het
Gmppa	A	G	1: 75,418,474 (GRCm39)		probably null	Het
Hltf	C	T	3: 20,153,981 (GRCm39)	T639I	probably damaging	Het
Inhca	C	A	9: 103,154,773 (GRCm39)	V173L	probably damaging	Het
Kpnb1	T	C	11: 97,066,612 (GRCm39)	Y321C	probably damaging	Het
Lgr4	G	A	2: 109,748,598 (GRCm39)	G45R	probably damaging	Het
Ltn1	T	C	16: 87,179,547 (GRCm39)	D1538G	probably benign	Het
Maf1	T	A	15: 76,237,220 (GRCm39)		probably benign	Het
Morn5	T	C	2: 35,945,049 (GRCm39)	F91S	probably damaging	Het
Ncan	C	T	8: 70,567,698 (GRCm39)	R138H	possibly damaging	Het
Or10ak7	A	T	4: 118,791,859 (GRCm39)	M62K	probably damaging	Het
Or5ac21	G	T	16: 59,123,649 (GRCm39)	L44F	probably damaging	Het
Parg	T	C	14: 31,960,531 (GRCm39)	L82S	probably damaging	Het
Ppp2r2b	A	T	18: 42,778,874 (GRCm39)	H417Q	probably damaging	Het
Rb1cc1	T	C	1: 6,334,807 (GRCm39)	L98P	probably damaging	Het
Ryr1	C	A	7: 28,748,220 (GRCm39)	V3752L	possibly damaging	Het
Slc25a12	A	G	2: 71,109,979 (GRCm39)	L489P	probably damaging	Het
Slc38a8	C	T	8: 120,212,282 (GRCm39)	V354M	probably benign	Het
Slf2	A	G	19: 44,930,459 (GRCm39)	E512G	probably benign	Het
Tgfb3	G	A	12: 86,116,550 (GRCm39)	R163C	probably damaging	Het
Tmco5b	A	G	2: 113,127,265 (GRCm39)	M279V	probably benign	Het
Ttll9	G	A	2: 152,844,871 (GRCm39)	G413D	probably damaging	Het
Tut1	A	G	19: 8,939,751 (GRCm39)	D245G	probably damaging	Het
Usf3	T	A	16: 44,041,589 (GRCm39)	V2023E	probably damaging	Het
Vps33a	C	T	5: 123,669,239 (GRCm39)	G554D	probably damaging	Het
Zfp27	C	A	7: 29,595,680 (GRCm39)	R95M	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
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

2015-12-18