Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01419:Tarbp1'

80333

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01419

Quality Score

Status

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126428155 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1410 (D1410G)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059093] [ENSMUST00000170518] [ENSMUST00000211868]

AlphaFold

E9Q368

Predicted Effect

probably benign
Transcript: ENSMUST00000059093

SMART Domains

Protein: ENSMUSP00000058279
Gene: ENSMUSG00000051671

Domain	Start	End	E-Value	Type
Pfam:COX6B	1	67	6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170518
AA Change: D1410G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: D1410G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211868

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,048,121	S1323P	probably damaging	Het
Abca2	A	T	2: 25,437,514	T672S	probably damaging	Het
Adamts14	A	T	10: 61,205,542		probably benign	Het
Adgrv1	T	C	13: 81,557,158	E791G	probably damaging	Het
Alkbh8	A	G	9: 3,385,354	R584G	probably damaging	Het
Apob	A	T	12: 8,002,251	I1218F	probably damaging	Het
Atp5a1	T	C	18: 77,777,533	S52P	probably damaging	Het
B4galnt3	A	G	6: 120,215,390	S462P	possibly damaging	Het
Bdkrb1	A	G	12: 105,604,781	H202R	possibly damaging	Het
Cd300lf	T	C	11: 115,126,354	K48E	probably benign	Het
Chuk	A	T	19: 44,096,981	I242K	probably damaging	Het
Csde1	A	G	3: 103,038,770	T27A	probably damaging	Het
D930048N14Rik	C	T	11: 51,654,776		probably benign	Het
Depdc7	A	T	2: 104,722,110	Y451N	possibly damaging	Het
Diaph3	C	A	14: 86,965,553	G623*	probably null	Het
Dlc1	T	C	8: 36,850,217	T435A	probably benign	Het
Dock8	A	G	19: 25,119,452	S575G	probably benign	Het
Fbxw22	T	A	9: 109,381,722	Y407F	probably benign	Het
Fzd4	C	A	7: 89,407,735	A330E	probably damaging	Het
Gm17415	A	G	1: 93,421,950		probably benign	Het
Gm4788	T	C	1: 139,739,644		probably null	Het
Gnat1	C	T	9: 107,679,434		probably null	Het
Gtf3c4	T	C	2: 28,835,069	Y76C	probably damaging	Het
Heatr5b	G	A	17: 78,796,510	H1079Y	probably benign	Het
Helz	T	G	11: 107,686,514	I1897S	unknown	Het
Hspa12a	T	C	19: 58,828,249		probably null	Het
Kcne1	G	T	16: 92,348,646	F103L	probably benign	Het
Lrrc20	A	T	10: 61,548,095	S94C	probably damaging	Het
Lrrc8a	A	G	2: 30,257,099	T642A	probably benign	Het
Ly6g5b	A	G	17: 35,114,518	L106P	probably benign	Het
Lyst	A	G	13: 13,635,838	S698G	probably benign	Het
Ndrg1	A	G	15: 66,931,051	V334A	probably benign	Het
Neb	A	T	2: 52,226,533	Y964*	probably null	Het
Olfr1047	A	T	2: 86,228,629	I114N	possibly damaging	Het
Olfr1230	T	C	2: 89,296,345		probably benign	Het
Parp10	A	G	15: 76,241,388	F497L	probably damaging	Het
Pdss1	A	G	2: 22,935,577	M343V	possibly damaging	Het
Phactr3	C	T	2: 178,279,062	T231I	probably benign	Het
Plekhh2	A	T	17: 84,583,552		probably benign	Het
Ppp1r12c	A	C	7: 4,486,352		probably null	Het
Prdm2	G	T	4: 143,133,648	P1024H	probably damaging	Het
Prkacb	A	T	3: 146,755,693	M1K	probably null	Het
Prkdc	C	A	16: 15,835,166	P3835Q	probably damaging	Het
Rps27a	T	C	11: 29,546,353	T87A	probably benign	Het
Ryr2	T	A	13: 11,799,837	E683V	possibly damaging	Het
Sbk2	A	G	7: 4,957,529	L214P	probably damaging	Het
Sema4g	A	G	19: 44,997,396	S250G	probably benign	Het
Slc27a6	T	A	18: 58,609,209	D498E	probably benign	Het
Tas2r134	T	A	2: 51,627,747	Y79*	probably null	Het
Tie1	T	C	4: 118,476,098	D857G	probably damaging	Het
Tnk2	A	G	16: 32,680,680	N432S	probably damaging	Het
Tubg2	C	A	11: 101,159,057	D176E	probably benign	Het
Ugt2b34	A	T	5: 86,891,405	W466R	probably damaging	Het
Usp47	T	A	7: 112,087,911	M692K	possibly damaging	Het
Vmn2r106	T	C	17: 20,279,545	K143E	probably benign	Het
Vmn2r118	G	A	17: 55,593,000	L635F	probably benign	Het
Vmn2r16	C	T	5: 109,362,401		probably benign	Het
Vmn2r76	A	T	7: 86,225,702	M689K	probably benign	Het
Xkr6	T	C	14: 63,818,876	Y79H	probably benign	Het
Zdhhc6	A	G	19: 55,309,754	F224L	probably benign	Het
Zfp493	T	G	13: 67,786,802	I291M	probably benign	Het

Other mutations in Tarbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Tarbp1	APN	8	126459161	missense	probably damaging	1.00
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
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

Posted On

2013-11-05