Mutagenetix > Incidental Mutation

Incidental Mutation 'R2019:Tarbp1'

223647

Institutional Source

Beutler Lab

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

MMRRC Submission

040028-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2019 (G1)

Quality Score

225

Status

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: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,458,065	F252L	possibly damaging	Het
Abcc9	G	A	6: 142,675,434	L527F	probably damaging	Het
Abi3bp	A	G	16: 56,677,796	T918A	probably damaging	Het
Acpp	C	T	9: 104,324,702	G81R	probably damaging	Het
Acss3	C	T	10: 106,936,207	S669N	probably benign	Het
Akt1	T	C	12: 112,659,625	N71S	probably damaging	Het
Amz1	G	T	5: 140,751,964	M326I	probably benign	Het
Ankrd36	A	G	11: 5,689,140	I1351V	probably benign	Het
Art2b	T	C	7: 101,579,987	D235G	probably benign	Het
Ccdc141	A	C	2: 77,011,565	I1507M	probably damaging	Het
Dck	A	G	5: 88,774,084	Y135C	probably damaging	Het
Dmbt1	T	G	7: 131,110,989	I1563S	possibly damaging	Het
Dnttip2	T	C	3: 122,280,744	V610A	possibly damaging	Het
Efhb	A	G	17: 53,401,477	S722P	probably damaging	Het
Emx2	A	G	19: 59,459,339	S42G	probably benign	Het
Ermard	C	T	17: 15,053,265	R371C	probably damaging	Het
Fat1	T	G	8: 45,023,746	I1943S	probably damaging	Het
Fignl1	T	C	11: 11,802,054	K334E	probably damaging	Het
Fmn1	A	C	2: 113,364,480	K175T	unknown	Het
Gm7247	A	T	14: 51,365,347	M47L	possibly damaging	Het
Gpalpp1	A	T	14: 76,110,691		probably null	Het
Hc	A	C	2: 35,013,528	F1038C	probably damaging	Het
Ifngr1	A	T	10: 19,592,113	M10L	probably damaging	Het
Irx5	T	G	8: 92,358,364	Y61D	probably damaging	Het
Itgax	A	G	7: 128,148,526	H1038R	probably benign	Het
Jag1	C	T	2: 137,084,679	E982K	probably benign	Het
Klhdc9	T	C	1: 171,358,941	D309G	probably damaging	Het
Lamp3	A	T	16: 19,701,211	M74K	probably benign	Het
Lrpprc	A	T	17: 84,752,331	L685Q	possibly damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Mgat5b	A	G	11: 116,947,348	Y271C	probably benign	Het
Mtmr6	T	C	14: 60,298,992	M557T	probably benign	Het
Myo16	T	C	8: 10,376,260	L339P	probably benign	Het
Neb	G	T	2: 52,232,276	Y580*	probably null	Het
Npat	A	G	9: 53,562,491	K528E	probably benign	Het
Olfr1032	A	T	2: 86,008,223	Y149F	probably damaging	Het
Olfr1245	A	G	2: 89,575,393	V111A	probably damaging	Het
Olfr350	A	T	2: 36,850,406	Y120F	possibly damaging	Het
Parp8	G	A	13: 116,868,432		probably benign	Het
Phf3	G	A	1: 30,811,847	T1142M	probably damaging	Het
Phospho1	G	A	11: 95,831,106	V201M	probably damaging	Het
Piezo1	A	G	8: 122,482,712	F2371L	probably benign	Het
Pitpnm1	T	C	19: 4,113,641	S1209P	probably damaging	Het
Pkd1	T	A	17: 24,568,684	C20*	probably null	Het
Prdm5	C	A	6: 65,831,356	N95K	probably damaging	Het
Prkx	T	C	X: 77,765,404	D270G	probably damaging	Het
Ptgis	A	G	2: 167,208,279	V310A	probably damaging	Het
Ptgis	G	A	2: 167,214,810	Q286*	probably null	Het
Rpf1	T	A	3: 146,521,221	N59I	probably damaging	Het
Rpl3l	A	C	17: 24,735,516		probably benign	Het
Ryr2	C	T	13: 11,851,188	G292D	possibly damaging	Het
Ryr3	G	T	2: 112,781,065	N2257K	probably benign	Het
Sla	T	C	15: 66,782,555	Y278C	probably damaging	Het
Slc4a10	A	T	2: 62,234,381	D193V	probably damaging	Het
Spire2	T	C	8: 123,332,918	C52R	probably damaging	Het
Tada2b	T	C	5: 36,483,906	Y51C	probably damaging	Het
Tbpl1	T	A	10: 22,707,677	E131D	probably damaging	Het
Tgfbrap1	A	G	1: 43,054,517		probably null	Het
Tmem116	A	G	5: 121,489,254	I151M	possibly damaging	Het
Tmem30a	T	C	9: 79,774,218	D223G	probably damaging	Het
Trim13	T	A	14: 61,604,886	C117*	probably null	Het
Ttn	C	G	2: 76,755,332	D21987H	probably damaging	Het
Txnrd1	G	A	10: 82,877,373	V90I	probably benign	Het
Unc79	G	A	12: 103,171,571		probably null	Het
Upp1	A	T	11: 9,133,240	M111L	possibly damaging	Het
Vmn2r79	G	T	7: 87,002,426	L344F	probably benign	Het
Vps39	T	C	2: 120,343,227	Y147C	probably damaging	Het
Wdr59	A	G	8: 111,466,793	Y666H	probably damaging	Het
Wdr95	A	G	5: 149,574,148		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
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
R2018: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'- CTGGCTAAGTTACATGTAGGCAC -3'

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

Posted On

2014-08-25