Mutagenetix > Incidental Mutation

Incidental Mutation 'R4951:Tarbp1'

381983

Institutional Source

Beutler Lab

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

MMRRC Submission

042548-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127152068-127201804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127174184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 874 (E874G)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

AlphaFold

E9Q368

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170518
AA Change: E874G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: E874G

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

Meta Mutation Damage Score

0.1626

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

98% (94/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,088,336 (GRCm39)	E452K	possibly damaging	Het
Adcy10	T	C	1: 165,391,532 (GRCm39)	L1263P	probably damaging	Het
Adgrg1	G	A	8: 95,731,874 (GRCm39)	V179M	probably damaging	Het
Agap1	T	A	1: 89,537,225 (GRCm39)	V77E	probably damaging	Het
Ahnak	A	T	19: 8,995,199 (GRCm39)	K5494N	probably damaging	Het
Arhgap19	A	G	19: 41,762,545 (GRCm39)	M437T	probably benign	Het
C2cd4c	C	A	10: 79,448,839 (GRCm39)	A103S	possibly damaging	Het
Clip1	A	T	5: 123,768,408 (GRCm39)	D776E	probably benign	Het
Cntn3	C	T	6: 102,145,986 (GRCm39)	V952M	possibly damaging	Het
Col6a6	A	G	9: 105,644,397 (GRCm39)		probably null	Het
Crtac1	C	T	19: 42,402,570 (GRCm39)	A13T	probably benign	Het
Ddx50	C	T	10: 62,469,899 (GRCm39)	A363T	probably damaging	Het
Dock9	A	G	14: 121,890,547 (GRCm39)	V241A	probably benign	Het
Dysf	T	C	6: 84,091,102 (GRCm39)		probably null	Het
Enpp3	A	T	10: 24,674,175 (GRCm39)	M375K	probably damaging	Het
Fam13c	G	A	10: 70,387,621 (GRCm39)		probably null	Het
Ftcd	C	T	10: 76,420,517 (GRCm39)	A417V	probably benign	Het
Gak	A	G	5: 108,730,584 (GRCm39)	S941P	probably benign	Het
Ganc	A	G	2: 120,286,528 (GRCm39)	T786A	probably benign	Het
Gfi1	A	C	5: 107,868,009 (GRCm39)	S420A	probably damaging	Het
Ghsr	A	T	3: 27,426,510 (GRCm39)	T189S	possibly damaging	Het
Glb1l	C	T	1: 75,185,019 (GRCm39)	G122D	probably damaging	Het
Gm10065	C	T	13: 21,663,421 (GRCm39)	S64N	unknown	Het
Gm5087	C	A	14: 13,158,749 (GRCm38)		noncoding transcript	Het
Gm973	G	A	1: 59,580,633 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,449 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,044 (GRCm39)	Y781N	probably damaging	Het
Ide	G	A	19: 37,262,631 (GRCm39)	L695F	unknown	Het
Il17re	T	A	6: 113,445,868 (GRCm39)	V393E	probably damaging	Het
Lipo3	A	G	19: 33,759,621 (GRCm39)	V205A	probably benign	Het
Lipo5	C	T	19: 33,446,251 (GRCm39)	E49K	probably damaging	Het
Lonp1	A	T	17: 56,927,335 (GRCm39)	M306K	possibly damaging	Het
Lrig1	A	G	6: 94,640,959 (GRCm39)	L82P	probably damaging	Het
Lrp2	A	T	2: 69,366,332 (GRCm39)	C256S	probably damaging	Het
Map1b	A	T	13: 99,568,935 (GRCm39)	I1262K	unknown	Het
Mctp1	C	T	13: 76,975,894 (GRCm39)	P756S	probably damaging	Het
Mdn1	T	A	4: 32,707,459 (GRCm39)	W1583R	probably damaging	Het
Mis12	T	A	11: 70,916,473 (GRCm39)	Y169N	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msh5	G	A	17: 35,257,396 (GRCm39)	Q333*	probably null	Het
Necap2	A	T	4: 140,799,834 (GRCm39)		probably null	Het
Nfatc2	T	C	2: 168,412,992 (GRCm39)	D211G	probably damaging	Het
Nlrx1	A	G	9: 44,164,726 (GRCm39)	V906A	possibly damaging	Het
Or2ak7	G	A	11: 58,575,589 (GRCm39)	V297I	probably damaging	Het
Or4a2	T	A	2: 89,248,116 (GRCm39)	I214F	probably benign	Het
Or4l1	A	T	14: 50,166,515 (GRCm39)	L162*	probably null	Het
Or5b125-ps1	A	T	19: 13,056,620 (GRCm39)		noncoding transcript	Het
Or8g24	A	G	9: 38,989,555 (GRCm39)	F162S	probably benign	Het
Pate5	A	G	9: 35,750,732 (GRCm39)	V30A	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,287 (GRCm39)	N2057K	possibly damaging	Het
Ppip5k2	T	C	1: 97,639,474 (GRCm39)	K1078R	possibly damaging	Het
Prdm11	A	G	2: 92,810,954 (GRCm39)	I215T	probably damaging	Het
Ptpn13	C	T	5: 103,735,912 (GRCm39)	P2137L	probably benign	Het
Rif1	T	A	2: 51,974,998 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,759,848 (GRCm39)	V1551A	probably benign	Het
Ror2	C	T	13: 53,271,183 (GRCm39)	V391I	probably benign	Het
Rps6ka2	A	T	17: 7,560,188 (GRCm39)	D542V	probably damaging	Het
Sema4g	A	G	19: 44,985,010 (GRCm39)		probably null	Het
Serpinb6d	T	G	13: 33,850,366 (GRCm39)	S64R	probably benign	Het
Serpine1	C	T	5: 137,098,205 (GRCm39)	R156K	probably benign	Het
Setdb2	A	G	14: 59,639,752 (GRCm39)	I713T	possibly damaging	Het
Slamf7	A	G	1: 171,466,693 (GRCm39)	F171L	probably benign	Het
Slc15a5	A	G	6: 138,050,064 (GRCm39)	L117S	probably damaging	Het
Slc8a3	T	A	12: 81,361,473 (GRCm39)	T449S	probably benign	Het
Slc8a3	T	A	12: 81,362,760 (GRCm39)	T20S	probably damaging	Het
Smc2	G	A	4: 52,462,926 (GRCm39)	V639M	possibly damaging	Het
Sra1	A	T	18: 36,809,494 (GRCm39)	C223*	probably null	Het
Srgap1	A	T	10: 121,621,457 (GRCm39)	M1012K	probably benign	Het
Stk-ps2	A	T	1: 46,068,602 (GRCm39)		noncoding transcript	Het
Taar6	A	T	10: 23,861,106 (GRCm39)	S147T	probably benign	Het
Taf15	G	A	11: 83,375,637 (GRCm39)	G34D	possibly damaging	Het
Tob2	T	C	15: 81,735,924 (GRCm39)	Y15C	probably damaging	Het
Trim12a	A	G	7: 103,953,565 (GRCm39)	V182A	possibly damaging	Het
Trim67	A	G	8: 125,521,406 (GRCm39)	E256G	probably benign	Het
Trrap	T	A	5: 144,742,530 (GRCm39)	S1382T	possibly damaging	Het
Ttc39d	T	A	17: 80,523,462 (GRCm39)	S40R	probably benign	Het
Ttn	A	T	2: 76,779,406 (GRCm39)	V1158E	probably benign	Het
Vmn1r19	C	T	6: 57,381,927 (GRCm39)	T160I	probably benign	Het
Vmn2r100	T	C	17: 19,752,300 (GRCm39)	I781T	probably benign	Het
Vmn2r85	T	C	10: 130,261,113 (GRCm39)	E408G	probably damaging	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Wdr27	A	T	17: 15,096,395 (GRCm39)	D796E	probably damaging	Het
Zfp365	C	T	10: 67,725,821 (GRCm39)		probably null	Het
Zfp9	T	G	6: 118,441,408 (GRCm39)	H418P	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTCAATCTCCACCGCAAC -3'
(R):5'- AGCCCCATATGCCAAAGAAGTG -3'

Sequencing Primer
(F):5'- TCCACCGCAACACTGTTG -3'
(R):5'- AGTTGGGAAACTGAGCCTTAGTATC -3'

Posted On

2016-04-27