Incidental Mutation 'R0048:Tarbp1'
| ID |
16000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tarbp1
|
| Ensembl Gene |
ENSMUSG00000090290 |
| Gene Name |
TAR RNA binding protein 1 |
| Synonyms |
Gm17296 |
| MMRRC Submission |
038342-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0048 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
127152068-127201804 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127174269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 846
(Y846H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170518]
|
| AlphaFold |
E9Q368 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170518
AA Change: Y846H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: Y846H
| 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 |
0.2874 |
| Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.7%
- 10x: 82.5%
- 20x: 75.5%
|
| Validation Efficiency |
94% (92/98) |
| 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 |
|---|
| Adgrb3 |
A |
G |
1: 25,140,563 (GRCm39) |
I299T |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,291,798 (GRCm39) |
S1212P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,537,198 (GRCm39) |
S52P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,112,371 (GRCm39) |
E715G |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,364,309 (GRCm39) |
|
probably null |
Het |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Btaf1 |
G |
T |
19: 36,980,924 (GRCm39) |
A1582S |
probably benign |
Het |
| Cblif |
G |
A |
19: 11,727,120 (GRCm39) |
V110M |
possibly damaging |
Het |
| Ccdc184 |
G |
A |
15: 98,066,341 (GRCm39) |
A49T |
probably damaging |
Het |
| Cd109 |
A |
C |
9: 78,587,303 (GRCm39) |
Y657S |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,432,244 (GRCm39) |
Y44F |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,119,601 (GRCm39) |
N353K |
probably benign |
Het |
| Dcaf10 |
T |
G |
4: 45,374,262 (GRCm39) |
Y562* |
probably null |
Het |
| Eno4 |
T |
C |
19: 58,952,970 (GRCm39) |
M328T |
possibly damaging |
Het |
| Etv3l |
T |
C |
3: 87,462,275 (GRCm39) |
|
noncoding transcript |
Het |
| Eya2 |
T |
A |
2: 165,557,931 (GRCm39) |
Y176N |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,200,865 (GRCm39) |
H736Q |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,782,218 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
T |
12: 24,662,150 (GRCm39) |
|
probably benign |
Het |
| H60b |
T |
A |
10: 22,163,130 (GRCm39) |
M235K |
probably benign |
Het |
| Hal |
T |
A |
10: 93,334,853 (GRCm39) |
Y395N |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,318,249 (GRCm39) |
S3865P |
possibly damaging |
Het |
| Inpp5j |
A |
G |
11: 3,451,417 (GRCm39) |
V463A |
probably damaging |
Het |
| Iqgap3 |
A |
T |
3: 88,023,256 (GRCm39) |
T516S |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
| Jmjd4 |
C |
A |
11: 59,344,778 (GRCm39) |
H244N |
probably benign |
Het |
| Klkb1 |
G |
A |
8: 45,742,233 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,496,474 (GRCm39) |
Y1578F |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,295,971 (GRCm39) |
D3379E |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,021,369 (GRCm39) |
|
probably benign |
Het |
| Mblac1 |
A |
G |
5: 138,192,727 (GRCm39) |
Y23C |
probably damaging |
Het |
| Mfsd12 |
G |
A |
10: 81,198,648 (GRCm39) |
V380I |
possibly damaging |
Het |
| Mroh9 |
G |
A |
1: 162,890,056 (GRCm39) |
T227M |
probably damaging |
Het |
| Mtor |
C |
T |
4: 148,623,338 (GRCm39) |
Q2063* |
probably null |
Het |
| Ncstn |
A |
G |
1: 171,897,528 (GRCm39) |
|
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,348,673 (GRCm39) |
T954A |
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,201,284 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Nr1d1 |
A |
G |
11: 98,661,304 (GRCm39) |
S321P |
probably benign |
Het |
| Or13c3 |
C |
A |
4: 52,856,196 (GRCm39) |
A106S |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,516,588 (GRCm39) |
I513V |
probably damaging |
Het |
| Pls1 |
T |
C |
9: 95,669,116 (GRCm39) |
E35G |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,519,323 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
A |
G |
3: 151,540,728 (GRCm39) |
V260A |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,454,939 (GRCm39) |
|
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,539,764 (GRCm39) |
K423E |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,431,529 (GRCm39) |
D112G |
probably benign |
Het |
| Rbm46 |
A |
T |
3: 82,771,537 (GRCm39) |
S359R |
probably damaging |
Het |
| Rhobtb3 |
A |
T |
13: 76,050,364 (GRCm39) |
*100R |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,610,670 (GRCm39) |
E4052G |
probably damaging |
Het |
| Sart3 |
G |
T |
5: 113,893,458 (GRCm39) |
D346E |
possibly damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,416,616 (GRCm39) |
F629S |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,915,317 (GRCm39) |
T1425A |
possibly damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,048,594 (GRCm39) |
|
probably benign |
Het |
| Slc38a10 |
G |
T |
11: 120,001,138 (GRCm39) |
P561T |
probably benign |
Het |
| Slc45a4 |
A |
G |
15: 73,477,285 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,558,146 (GRCm39) |
|
probably benign |
Het |
| Son |
T |
A |
16: 91,455,865 (GRCm39) |
H1537Q |
possibly damaging |
Het |
| Synpo2l |
A |
T |
14: 20,716,340 (GRCm39) |
|
probably benign |
Het |
| Tgfb1 |
T |
A |
7: 25,393,779 (GRCm39) |
|
probably benign |
Het |
| Tigd2 |
C |
A |
6: 59,188,369 (GRCm39) |
T412K |
possibly damaging |
Het |
| Umodl1 |
A |
T |
17: 31,187,451 (GRCm39) |
N172Y |
probably damaging |
Het |
| Urah |
C |
T |
7: 140,416,665 (GRCm39) |
T46I |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,809 (GRCm39) |
P353L |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,653,504 (GRCm39) |
V1959E |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,365,900 (GRCm39) |
|
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,569,729 (GRCm39) |
V452M |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,369,572 (GRCm39) |
K650E |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,777,404 (GRCm39) |
Y887C |
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 |
|
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 |
2013-01-08 |
Incidental Mutation