Incidental Mutation 'R0048:Rhobtb3'
| ID |
15896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhobtb3
|
| Ensembl Gene |
ENSMUSG00000021589 |
| Gene Name |
Rho-related BTB domain containing 3 |
| Synonyms |
4930503C18Rik, 1700040C17Rik, 2610033K01Rik |
| MMRRC Submission |
038342-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R0048 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
76017656-76092044 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to T
at 76050364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 100
(*100R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022078]
|
| AlphaFold |
Q9CTN4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022078
AA Change: L365*
|
| SMART Domains |
Protein: ENSMUSP00000022078
Gene: ENSMUSG00000021589
AA Change: L365*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
47 |
195 |
9e-7 |
PFAM |
|
Blast:BTB
|
254 |
406 |
2e-95 |
BLAST |
|
BTB
|
420 |
518 |
3.12e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000093660
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220939
AA Change: *100R
|
| Meta Mutation Damage Score |
0.9755 |
| 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.] RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality, reduced body weight and slightly reduced organ weights that varies by sex. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| 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 |
| 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 |
| Tarbp1 |
A |
G |
8: 127,174,269 (GRCm39) |
Y846H |
probably damaging |
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 Rhobtb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02117:Rhobtb3
|
APN |
13 |
76,025,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Rhobtb3
|
APN |
13 |
76,025,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02708:Rhobtb3
|
APN |
13 |
76,065,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02732:Rhobtb3
|
APN |
13 |
76,059,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02969:Rhobtb3
|
APN |
13 |
76,091,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:Rhobtb3
|
UTSW |
13 |
76,025,628 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2233:Rhobtb3
|
UTSW |
13 |
76,020,484 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2289:Rhobtb3
|
UTSW |
13 |
76,059,046 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2332:Rhobtb3
|
UTSW |
13 |
76,058,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3684:Rhobtb3
|
UTSW |
13 |
76,087,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Rhobtb3
|
UTSW |
13 |
76,027,051 (GRCm39) |
nonsense |
probably null |
|
|
R5060:Rhobtb3
|
UTSW |
13 |
76,061,389 (GRCm39) |
missense |
probably benign |
|
|
R5374:Rhobtb3
|
UTSW |
13 |
76,027,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5688:Rhobtb3
|
UTSW |
13 |
76,020,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6181:Rhobtb3
|
UTSW |
13 |
76,058,808 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6235:Rhobtb3
|
UTSW |
13 |
76,041,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6947:Rhobtb3
|
UTSW |
13 |
76,058,785 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7032:Rhobtb3
|
UTSW |
13 |
76,020,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7039:Rhobtb3
|
UTSW |
13 |
76,020,572 (GRCm39) |
nonsense |
probably null |
|
|
R7148:Rhobtb3
|
UTSW |
13 |
76,059,006 (GRCm39) |
missense |
probably benign |
|
|
R7449:Rhobtb3
|
UTSW |
13 |
76,058,860 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7508:Rhobtb3
|
UTSW |
13 |
76,026,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7598:Rhobtb3
|
UTSW |
13 |
76,059,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7691:Rhobtb3
|
UTSW |
13 |
76,027,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7770:Rhobtb3
|
UTSW |
13 |
76,065,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8465:Rhobtb3
|
UTSW |
13 |
76,087,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Rhobtb3
|
UTSW |
13 |
76,087,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9133:Rhobtb3
|
UTSW |
13 |
76,020,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Rhobtb3
|
UTSW |
13 |
76,041,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Protein Function and Prediction |
RhoBTB3 is a member of the RHOBTB subfamily of RhoGTPases; the RhoBTB proteins are required to maintain constant levels of substrates involved in cell cycle regulation or vesicle transport via targeting for degradation in the 26S proteasome (1). The GTPase domain of RhoBTB3 is virtually erased, to a point that it is almost unrecognizable as a GTPase (1). RhoBTB3 has been shown to interact with the GTPase Rab9 to function in recycling M6PR proteins from the endosomes to the trans-Golgi network (2). In addition, RhoBTB3 also interacts with 5-HT7a receptor and functions to inhibit proteasomal degradation of the receptor (3).
|
| Expression/Localization |
Northern blot analysis revealed that human RHOBTB3 is ubiquitously expressed, with highest levels in placenta, testis, pancreas, adrenal and salivary gland, and neural and cardiac tissue (4). Northern blot of mouse tissues determined that Rhobtb3 is ubiquitously expressed, with highest expression in the brain, heart, and uterus (4). RT-PCR followed by ELISA revealed high expression in ovary, moderate expression in heart, brain, liver, pancreas, and testis, and weak expression in all other tissues tested (5).
|
| References |
3. Matthys, A., Van Craenenbroeck, K., Lintermans, B., Haegeman, G., and Vanhoenacker, P. (2012) RhoBTB3 Interacts with the 5-HT7a Receptor and Inhibits its Proteasomal Degradation. Cell Signal. 24, 1053-1063.
5. Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., and Ohara, O. (1998) Prediction of the Coding Sequences of Unidentified Human Genes. XII. the Complete Sequences of 100 New cDNA Clones from Brain which Code for Large Proteins in Vitro. DNA Res. 5, 355-364. |
| Posted On |
2013-01-08 |
| Science Writer |
Anne Murray |
Incidental Mutation