Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03006:Tarbp1'

407561

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03006

Quality Score

Status

Chromosome

Chromosomal Location

127152068-127201804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127170881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1040 (D1040N)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

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

AlphaFold

E9Q368

Predicted Effect

probably damaging
Transcript: ENSMUST00000170518
AA Change: D1040N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: D1040N

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	A	11: 109,718,671 (GRCm39)	S21C	probably damaging	Het
2210408I21Rik	T	C	13: 77,471,891 (GRCm39)		probably null	Het
Abcc3	T	C	11: 94,259,421 (GRCm39)	D340G	probably benign	Het
Adamts17	G	T	7: 66,728,095 (GRCm39)	R879L	possibly damaging	Het
Adissp	A	C	2: 130,993,634 (GRCm39)	D22E	probably damaging	Het
Cacna1f	C	A	X: 7,493,142 (GRCm39)	T1275K	probably damaging	Het
Csmd2	T	A	4: 128,374,558 (GRCm39)		probably benign	Het
Dll1	C	T	17: 15,593,854 (GRCm39)	R171Q	probably benign	Het
Dnm1	T	A	2: 32,243,133 (GRCm39)	D30V	possibly damaging	Het
Fam184a	G	A	10: 53,574,793 (GRCm39)	S216L	probably damaging	Het
Fbxo33	G	A	12: 59,251,105 (GRCm39)	A470V	probably benign	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Ighv7-1	A	T	12: 113,860,145 (GRCm39)	S82R	probably damaging	Het
Klk1b4	A	G	7: 43,861,019 (GRCm39)	I221V	probably benign	Het
Lama3	T	C	18: 12,601,425 (GRCm39)		probably benign	Het
Lrch1	A	G	14: 75,051,060 (GRCm39)	L359P	probably damaging	Het
Mapk8ip3	T	C	17: 25,120,489 (GRCm39)	T882A	probably benign	Het
Med12	C	T	X: 100,321,684 (GRCm39)	R456W	probably damaging	Het
Mms22l	T	C	4: 24,521,253 (GRCm39)	S267P	probably damaging	Het
Mtpap	G	A	18: 4,375,721 (GRCm39)	G34R	possibly damaging	Het
Nf1	G	A	11: 79,436,257 (GRCm39)	D1966N	probably damaging	Het
Nlrp9c	G	A	7: 26,071,507 (GRCm39)	T867I	probably damaging	Het
Nrap	C	T	19: 56,335,596 (GRCm39)	V941I	probably benign	Het
Or5k1b	T	A	16: 58,581,511 (GRCm39)	K9N	probably benign	Het
Pcdh10	A	G	3: 45,333,937 (GRCm39)	I84V	probably damaging	Het
Polr3d	T	A	14: 70,678,603 (GRCm39)		probably null	Het
Prkar2a	G	T	9: 108,617,640 (GRCm39)	V233L	probably benign	Het
Prl4a1	T	C	13: 28,207,359 (GRCm39)	V211A	probably damaging	Het
Qpct	T	C	17: 79,378,151 (GRCm39)	V107A	probably benign	Het
Rai1	T	C	11: 60,079,031 (GRCm39)	S1032P	possibly damaging	Het
Rims1	G	T	1: 22,367,178 (GRCm39)	T1113K	probably damaging	Het
Rxra	C	T	2: 27,649,657 (GRCm39)	T454I	probably damaging	Het
S100z	T	C	13: 95,615,127 (GRCm39)	I13V	probably damaging	Het
Scp2	T	C	4: 107,948,477 (GRCm39)	K167E	probably benign	Het
Sephs2	A	G	7: 126,872,206 (GRCm39)	F296L	probably benign	Het
Setd1b	A	G	5: 123,286,514 (GRCm39)	E520G	unknown	Het
Slc28a2	G	A	2: 122,283,019 (GRCm39)	V308M	possibly damaging	Het
Smarcad1	T	A	6: 65,060,873 (GRCm39)	I451K	probably benign	Het
Tdrd6	T	C	17: 43,936,323 (GRCm39)	D1575G	probably damaging	Het
Tll1	T	A	8: 64,527,251 (GRCm39)		probably benign	Het
Tsks	A	T	7: 44,600,198 (GRCm39)		probably benign	Het
Ttc1	A	T	11: 43,636,147 (GRCm39)	M32K	probably benign	Het
Txlnb	C	T	10: 17,714,723 (GRCm39)	A385V	probably damaging	Het
Zc4h2	T	C	X: 94,687,019 (GRCm39)	H98R	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
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
R4951:Tarbp1	UTSW	8	127,174,184 (GRCm39)	missense	possibly damaging	0.94
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

Posted On

2016-08-02