Mutagenetix > Incidental Mutation

Incidental Mutation 'R6087:Tarbp1'

484614

Institutional Source

Beutler Lab

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

MMRRC Submission

044244-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126428970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1343 (D1343G)

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: D1343G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: D1343G

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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.2%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 87,971,762 (GRCm38)	K126R	possibly damaging	Het
Adam7	A	T	14: 68,510,757 (GRCm38)	C548S	probably damaging	Het
Adar	C	A	3: 89,745,590 (GRCm38)	H260N	probably benign	Het
Ak9	A	G	10: 41,382,832 (GRCm38)	E775G	probably benign	Het
Arhgap35	T	C	7: 16,563,643 (GRCm38)	Y499C	probably damaging	Het
Bank1	A	G	3: 136,066,429 (GRCm38)	L480P	probably damaging	Het
Cep135	G	T	5: 76,615,791 (GRCm38)		probably null	Het
Cnga1	G	T	5: 72,610,812 (GRCm38)	A177E	probably damaging	Het
Cubn	T	A	2: 13,427,847 (GRCm38)	D1221V	probably damaging	Het
Cyp2d40	T	C	15: 82,764,004 (GRCm38)	Y36C	possibly damaging	Het
Dock8	C	A	19: 25,161,074 (GRCm38)	N1254K	probably benign	Het
Elapor2	T	C	5: 9,399,255 (GRCm38)	S128P	probably damaging	Het
Fam13b	C	T	18: 34,487,139 (GRCm38)	V231I	possibly damaging	Het
Fbxo8	T	A	8: 56,569,318 (GRCm38)	Y122N	probably damaging	Het
Fmo2	T	A	1: 162,880,433 (GRCm38)	I378F	probably benign	Het
Golga3	A	T	5: 110,204,946 (GRCm38)	Q861L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Ighv3-8	G	T	12: 114,322,380 (GRCm38)	A114E	probably damaging	Het
Itga3	C	T	11: 95,052,443 (GRCm38)		probably null	Het
Kank1	G	A	19: 25,409,724 (GRCm38)	V254I	probably benign	Het
Lipo5	A	T	19: 33,465,975 (GRCm38)	I147K	unknown	Het
Lrfn2	A	G	17: 49,071,126 (GRCm38)	S412G	probably benign	Het
Lrrn3	T	C	12: 41,453,535 (GRCm38)	N261S	possibly damaging	Het
Mical2	C	T	7: 112,318,485 (GRCm38)	Q350*	probably null	Het
Nras	T	C	3: 103,060,321 (GRCm38)	F78L	probably damaging	Het
Nudt9	A	G	5: 104,050,813 (GRCm38)	I65V	probably benign	Het
Or10ag59	A	G	2: 87,575,915 (GRCm38)	D277G	probably benign	Het
Or4f17-ps1	A	T	2: 111,528,181 (GRCm38)	E289V	possibly damaging	Het
Oscar	G	A	7: 3,611,312 (GRCm38)	P143S	probably benign	Het
Pla2g4d	C	T	2: 120,270,006 (GRCm38)	G615D	probably damaging	Het
Plekha1	T	G	7: 130,900,571 (GRCm38)	S175A	probably benign	Het
Psg27	T	C	7: 18,556,944 (GRCm38)	K445E	probably benign	Het
Rad51c	A	G	11: 87,380,879 (GRCm38)	Y318H	probably benign	Het
Ret	G	T	6: 118,176,291 (GRCm38)	T472K	possibly damaging	Het
Top2b	C	A	14: 16,409,864 (GRCm38)	R844S	probably benign	Het
Vmn1r171	T	A	7: 23,633,004 (GRCm38)	M218K	probably damaging	Het
Vmn2r89	A	T	14: 51,457,576 (GRCm38)		probably null	Het
Zc3h13	T	A	14: 75,330,709 (GRCm38)	D1147E	probably damaging	Het
Zgrf1	T	A	3: 127,615,486 (GRCm38)	L1703H	probably damaging	Het

Other mutations in Tarbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Tarbp1	APN	8	126,459,161 (GRCm38)	missense	probably damaging	1.00
IGL01419:Tarbp1	APN	8	126,428,155 (GRCm38)	missense	probably benign	0.03
IGL01475:Tarbp1	APN	8	126,433,962 (GRCm38)	missense	probably benign	0.03
IGL01688:Tarbp1	APN	8	126,447,551 (GRCm38)	missense	probably damaging	1.00
IGL01772:Tarbp1	APN	8	126,447,231 (GRCm38)	splice site	probably benign
IGL02402:Tarbp1	APN	8	126,450,828 (GRCm38)	splice site	probably benign
IGL02899:Tarbp1	APN	8	126,453,844 (GRCm38)	missense	probably damaging	0.96
IGL03006:Tarbp1	APN	8	126,444,142 (GRCm38)	missense	probably damaging	1.00
IGL03273:Tarbp1	APN	8	126,453,835 (GRCm38)	missense	probably damaging	1.00
PIT4280001:Tarbp1	UTSW	8	126,430,847 (GRCm38)	missense	probably damaging	0.96
R0048:Tarbp1	UTSW	8	126,447,530 (GRCm38)	missense	probably damaging	1.00
R0309:Tarbp1	UTSW	8	126,438,928 (GRCm38)	splice site	probably benign
R0383:Tarbp1	UTSW	8	126,447,484 (GRCm38)	missense	probably benign	0.00
R0455:Tarbp1	UTSW	8	126,440,873 (GRCm38)	missense	probably benign	0.00
R0738:Tarbp1	UTSW	8	126,438,801 (GRCm38)	critical splice donor site	probably null
R1345:Tarbp1	UTSW	8	126,448,330 (GRCm38)	missense	probably benign	0.03
R1370:Tarbp1	UTSW	8	126,448,330 (GRCm38)	missense	probably benign	0.03
R1617:Tarbp1	UTSW	8	126,444,268 (GRCm38)	missense	possibly damaging	0.47
R1628:Tarbp1	UTSW	8	126,430,860 (GRCm38)	missense	possibly damaging	0.78
R1702:Tarbp1	UTSW	8	126,428,218 (GRCm38)	missense	probably damaging	1.00
R1873:Tarbp1	UTSW	8	126,447,047 (GRCm38)	missense	probably damaging	1.00
R2018:Tarbp1	UTSW	8	126,428,114 (GRCm38)	missense	probably damaging	1.00
R2019:Tarbp1	UTSW	8	126,428,114 (GRCm38)	missense	probably damaging	1.00
R2060:Tarbp1	UTSW	8	126,447,594 (GRCm38)	splice site	probably null
R2877:Tarbp1	UTSW	8	126,427,832 (GRCm38)	missense	probably damaging	1.00
R3008:Tarbp1	UTSW	8	126,447,421 (GRCm38)	missense	possibly damaging	0.46
R3875:Tarbp1	UTSW	8	126,438,799 (GRCm38)	splice site	probably benign
R3905:Tarbp1	UTSW	8	126,428,152 (GRCm38)	missense	probably damaging	1.00
R3923:Tarbp1	UTSW	8	126,440,771 (GRCm38)	missense	probably benign	0.00
R4420:Tarbp1	UTSW	8	126,447,080 (GRCm38)	missense	possibly damaging	0.59
R4570:Tarbp1	UTSW	8	126,452,233 (GRCm38)	missense	probably benign	0.00
R4610:Tarbp1	UTSW	8	126,474,330 (GRCm38)	missense	probably damaging	1.00
R4649:Tarbp1	UTSW	8	126,447,195 (GRCm38)	missense	probably damaging	0.96
R4802:Tarbp1	UTSW	8	126,474,889 (GRCm38)	missense	possibly damaging	0.75
R4951:Tarbp1	UTSW	8	126,447,445 (GRCm38)	missense	possibly damaging	0.94
R4953:Tarbp1	UTSW	8	126,447,445 (GRCm38)	missense	possibly damaging	0.94
R5254:Tarbp1	UTSW	8	126,467,156 (GRCm38)	missense	probably damaging	0.96
R5255:Tarbp1	UTSW	8	126,428,970 (GRCm38)	missense	probably benign	0.16
R5638:Tarbp1	UTSW	8	126,450,686 (GRCm38)	missense	probably damaging	1.00
R5696:Tarbp1	UTSW	8	126,447,340 (GRCm38)	missense	probably damaging	0.98
R5707:Tarbp1	UTSW	8	126,467,144 (GRCm38)	missense	probably damaging	1.00
R5896:Tarbp1	UTSW	8	126,452,928 (GRCm38)	missense	probably benign	0.05
R6117:Tarbp1	UTSW	8	126,427,541 (GRCm38)	missense	probably benign	0.00
R6132:Tarbp1	UTSW	8	126,434,809 (GRCm38)	missense	probably benign	0.17
R6168:Tarbp1	UTSW	8	126,448,405 (GRCm38)	missense	possibly damaging	0.89
R6419:Tarbp1	UTSW	8	126,459,044 (GRCm38)	missense	possibly damaging	0.95
R6482:Tarbp1	UTSW	8	126,450,695 (GRCm38)	missense	probably benign	0.01
R6766:Tarbp1	UTSW	8	126,447,400 (GRCm38)	missense	probably benign	0.41
R6775:Tarbp1	UTSW	8	126,436,829 (GRCm38)	missense	probably benign	0.16
R6960:Tarbp1	UTSW	8	126,429,039 (GRCm38)	missense	possibly damaging	0.88
R7054:Tarbp1	UTSW	8	126,474,495 (GRCm38)	missense	possibly damaging	0.85
R7068:Tarbp1	UTSW	8	126,427,034 (GRCm38)	missense	probably damaging	1.00
R7454:Tarbp1	UTSW	8	126,457,677 (GRCm38)	missense	probably benign	0.19
R7519:Tarbp1	UTSW	8	126,433,900 (GRCm38)	missense	possibly damaging	0.87
R7760:Tarbp1	UTSW	8	126,452,807 (GRCm38)	missense	not run
R7837:Tarbp1	UTSW	8	126,474,561 (GRCm38)	missense	probably benign	0.00
R7882:Tarbp1	UTSW	8	126,456,493 (GRCm38)	missense	probably damaging	1.00
R7982:Tarbp1	UTSW	8	126,444,301 (GRCm38)	missense	probably damaging	1.00
R8166:Tarbp1	UTSW	8	126,427,128 (GRCm38)	missense	possibly damaging	0.79
R8517:Tarbp1	UTSW	8	126,444,195 (GRCm38)	missense	probably benign	0.29
R8838:Tarbp1	UTSW	8	126,450,830 (GRCm38)	splice site	probably benign
R8880:Tarbp1	UTSW	8	126,471,305 (GRCm38)	missense	probably damaging	1.00
R9061:Tarbp1	UTSW	8	126,447,141 (GRCm38)	missense	probably damaging	1.00
R9123:Tarbp1	UTSW	8	126,447,463 (GRCm38)	missense	possibly damaging	0.63
R9125:Tarbp1	UTSW	8	126,447,463 (GRCm38)	missense	possibly damaging	0.63
R9364:Tarbp1	UTSW	8	126,450,723 (GRCm38)	missense	probably benign	0.01
R9474:Tarbp1	UTSW	8	126,429,040 (GRCm38)	missense	probably benign	0.44
R9670:Tarbp1	UTSW	8	126,456,523 (GRCm38)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GAGACCCAGGTCAGTGAAAC -3'
(R):5'- TGAGAGCCTGCAAGTTGAG -3'

Sequencing Primer
(F):5'- CAGGTCAGTGAAACAAAGTCATC -3'
(R):5'- CCTGCAAGTTGAGGATGGC -3'

Posted On

2017-08-16