Mutagenetix > Incidental Mutation

Incidental Mutation 'R2018:Tarbp1'

223447

Institutional Source

Beutler Lab

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

MMRRC Submission

040027-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2018 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126428114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1424 (V1424I)

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 damaging
Transcript: ENSMUST00000170518
AA Change: V1424I

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

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: V1424I

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

Meta Mutation Damage Score

0.3009

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,458,065	F252L	possibly damaging	Het
4921501E09Rik	T	C	17: 33,066,967	N287S	probably benign	Het
4930447A16Rik	T	G	15: 37,440,498		probably benign	Het
Abca14	A	T	7: 120,216,185	M219L	probably benign	Het
Abi3bp	A	G	16: 56,677,796	T918A	probably damaging	Het
Acss3	C	T	10: 106,936,207	S669N	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adamtsl4	A	G	3: 95,681,102	Y559H	probably damaging	Het
Adgrg5	T	A	8: 94,934,480	M106K	probably damaging	Het
Akt1	T	C	12: 112,659,625	N71S	probably damaging	Het
Amer2	A	C	14: 60,378,445	K30Q	probably damaging	Het
Anapc5	T	C	5: 122,800,524	K383E	probably damaging	Het
Ano1	A	G	7: 144,654,250	L258P	probably damaging	Het
Arhgef10l	A	G	4: 140,544,384	S560P	probably damaging	Het
Arhgef40	T	A	14: 52,003,705	L1395Q	probably damaging	Het
Arid1a	A	T	4: 133,681,834	D1787E	unknown	Het
C77080	A	G	4: 129,222,355	S884P	probably damaging	Het
Ces2h	T	C	8: 105,018,398	L388P	probably damaging	Het
Cfap54	T	A	10: 93,016,604	N880I	probably benign	Het
Cryz	T	C	3: 154,621,683	V116A	probably damaging	Het
Csrp1	G	A	1: 135,750,628	A159T	probably damaging	Het
Cttnbp2	A	G	6: 18,434,518	F447S	probably damaging	Het
Cyp4a12a	A	T	4: 115,327,505	I328F	probably damaging	Het
Cyth4	T	G	15: 78,608,171	H133Q	probably damaging	Het
Ddah2	A	G	17: 35,060,426	I88V	possibly damaging	Het
Dmbt1	T	G	7: 131,110,989	I1563S	possibly damaging	Het
Dnajc22	T	C	15: 99,101,233	S100P	probably benign	Het
Fam172a	A	G	13: 77,999,637	T321A	possibly damaging	Het
Fancl	T	A	11: 26,422,459	D123E	probably damaging	Het
Fbxo30	A	G	10: 11,291,028	Q498R	probably damaging	Het
Fgd4	T	C	16: 16,435,960	H581R	probably benign	Het
Gm2663	T	C	6: 40,997,966	Q57R	probably benign	Het
Gm5065	A	G	7: 5,359,574	D68G	probably benign	Het
Gm7247	A	T	14: 51,365,347	M47L	possibly damaging	Het
Gsdmc2	T	A	15: 63,828,126		probably null	Het
Hc	A	C	2: 35,013,528	F1038C	probably damaging	Het
Heatr1	C	A	13: 12,414,478	Q890K	possibly damaging	Het
Hipk4	C	A	7: 27,529,004	T293K	probably damaging	Het
Hp1bp3	C	A	4: 138,221,632	A2E	probably damaging	Het
Il6	T	C	5: 30,014,947		probably null	Het
Itga6	A	G	2: 71,818,484	D104G	probably benign	Het
Krt24	A	G	11: 99,282,451	S293P	probably damaging	Het
Krt4	C	T	15: 101,920,651	R309Q	probably damaging	Het
Krt40	A	T	11: 99,540,087	W199R	probably damaging	Het
Lamc1	T	C	1: 153,242,632	E931G	probably benign	Het
Lamp3	A	T	16: 19,701,211	M74K	probably benign	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
March7	T	A	2: 60,229,040	Y37*	probably null	Het
Mrpl36	A	G	13: 73,331,568	K66E	probably damaging	Het
Mrps35	G	T	6: 147,061,484	E229*	probably null	Het
Mtmr6	T	C	14: 60,298,992	M557T	probably benign	Het
Myocd	A	T	11: 65,187,028	I647N	probably damaging	Het
Myom2	A	C	8: 15,131,151	L1350F	probably damaging	Het
Nosip	T	A	7: 45,076,609	S197T	probably benign	Het
Npat	A	G	9: 53,562,491	K528E	probably benign	Het
Nyap2	A	G	1: 81,191,872	T115A	probably benign	Het
Olfr1032	A	T	2: 86,008,223	Y149F	probably damaging	Het
Olfr1214	G	T	2: 88,988,145	P19Q	probably benign	Het
Olfr122	A	G	17: 37,772,576	R317G	probably benign	Het
Olfr1245	A	G	2: 89,575,393	V111A	probably damaging	Het
Olfr65	T	A	7: 103,907,042	V201D	possibly damaging	Het
Olfr972	A	G	9: 39,874,058	Q261R	probably benign	Het
Orc1	T	C	4: 108,590,700	V48A	possibly damaging	Het
Pde6d	T	C	1: 86,546,716	E69G	probably damaging	Het
Pdgfrb	A	T	18: 61,083,334	D1088V	possibly damaging	Het
Peg12	A	G	7: 62,463,638	V237A	probably benign	Het
Piezo1	A	G	8: 122,482,712	F2371L	probably benign	Het
Podn	T	A	4: 108,023,373	S27C	probably damaging	Het
Pom121l2	A	G	13: 21,982,734	M392V	possibly damaging	Het
Ppm1b	A	G	17: 84,994,202	K170R	probably damaging	Het
Rab18	A	T	18: 6,770,113		probably null	Het
Raet1d	G	A	10: 22,371,012	A80T	probably damaging	Het
Rfx7	T	A	9: 72,617,685	V719E	probably benign	Het
Rnf219	T	A	14: 104,522,542	K24M	probably damaging	Het
Ror1	C	T	4: 100,407,841	Q171*	probably null	Het
Rufy4	G	A	1: 74,140,947	V454M	possibly damaging	Het
Ryr2	C	T	13: 11,851,188	G292D	possibly damaging	Het
Ryr3	G	T	2: 112,781,065	N2257K	probably benign	Het
Saal1	A	G	7: 46,699,489	F306S	possibly damaging	Het
Sap18	A	G	14: 57,798,564	N69S	probably damaging	Het
Sar1b	A	T	11: 51,779,687		probably null	Het
Serpina3n	G	T	12: 104,409,214	V182L	probably damaging	Het
Setd3	A	T	12: 108,118,254	H279Q	probably damaging	Het
Slc18a2	C	A	19: 59,276,505	A307E	possibly damaging	Het
Slc4a10	A	T	2: 62,234,381	D193V	probably damaging	Het
Spire2	T	C	8: 123,332,918	C52R	probably damaging	Het
Syne2	A	T	12: 76,074,579	I5940F	probably damaging	Het
Sytl1	C	T	4: 133,256,160	S355N	probably damaging	Het
Tatdn3	A	T	1: 191,049,280		probably null	Het
Tbpl1	T	A	10: 22,707,677	E131D	probably damaging	Het
Telo2	A	T	17: 25,105,408	M501K	probably damaging	Het
Terb1	A	G	8: 104,452,699	V619A	probably benign	Het
Tmem132e	A	G	11: 82,445,163	T1024A	probably benign	Het
Tmem30a	T	C	9: 79,774,218	D223G	probably damaging	Het
Tmprss11d	A	G	5: 86,339,554	V19A	probably damaging	Het
Tnks	A	T	8: 34,851,106	S872T	probably damaging	Het
Tnxb	A	G	17: 34,671,750	S356G	probably benign	Het
Tob2	T	C	15: 81,851,199	K190E	probably damaging	Het
Togaram1	T	C	12: 65,002,659	V1240A	possibly damaging	Het
Trim13	T	A	14: 61,604,886	C117*	probably null	Het
Trpv4	G	A	5: 114,634,605	R308C	probably damaging	Het
Ttn	C	G	2: 76,755,332	D21987H	probably damaging	Het
Ttn	C	A	2: 76,826,074		probably null	Het
Upp1	A	T	11: 9,133,240	M111L	possibly damaging	Het
Vmn1r206	A	T	13: 22,620,188	V283E	probably damaging	Het
Vmn2r79	G	T	7: 87,002,426	L344F	probably benign	Het
Vmn2r93	T	G	17: 18,326,062	I732S	probably damaging	Het
Vmn2r96	G	T	17: 18,584,001	M504I	probably benign	Het
Vps39	T	C	2: 120,343,227	Y147C	probably damaging	Het
Zbtb20	T	A	16: 43,577,652	C35S	possibly damaging	Het
Zfp871	A	T	17: 32,774,777	C475S	probably 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
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
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'- GCCGACAACAAGTACTGCAG -3'
(R):5'- ACTCTGGCTAAGTTACATGTAGG -3'

Sequencing Primer
(F):5'- TCACAGGTCCTGCACAGC -3'
(R):5'- GTAGGCACTATTATTTCTTCTCAGG -3'

Posted On

2014-08-25