Incidental Mutation 'R2289:Rhobtb3'
| ID |
244228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhobtb3
|
| Ensembl Gene |
ENSMUSG00000021589 |
| Gene Name |
Rho-related BTB domain containing 3 |
| Synonyms |
4930503C18Rik, 1700040C17Rik, 2610033K01Rik |
| MMRRC Submission |
040288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R2289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
76017656-76092044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 76059046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 251
(C251G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022078]
[ENSMUST00000109606]
|
| AlphaFold |
Q9CTN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022078
AA Change: C251G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022078
Gene: ENSMUSG00000021589
AA Change: C251G
| 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 |
probably benign
Transcript: ENSMUST00000109606
|
| SMART Domains |
Protein: ENSMUSP00000105235
Gene: ENSMUSG00000021589
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
45 |
195 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220939
AA Change: C59G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp12a |
G |
A |
14: 56,610,719 (GRCm39) |
V288I |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,545,989 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cplx3 |
T |
A |
9: 57,520,941 (GRCm39) |
E220V |
possibly damaging |
Het |
| Cracdl |
T |
C |
1: 37,651,342 (GRCm39) |
K1175R |
possibly damaging |
Het |
| Dcaf10 |
T |
A |
4: 45,359,816 (GRCm39) |
W244R |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,595,172 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
T |
A |
11: 69,917,752 (GRCm39) |
Y12N |
probably damaging |
Het |
| Fsd1l |
T |
A |
4: 53,696,931 (GRCm39) |
Y442N |
possibly damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Hcrt |
C |
A |
11: 100,652,745 (GRCm39) |
A90S |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,648,873 (GRCm39) |
V119D |
probably damaging |
Het |
| Klrh1 |
T |
C |
6: 129,745,140 (GRCm39) |
N152S |
probably null |
Het |
| Lmtk2 |
T |
A |
5: 144,112,924 (GRCm39) |
S1215T |
possibly damaging |
Het |
| Loxl2 |
G |
A |
14: 69,930,524 (GRCm39) |
E763K |
probably benign |
Het |
| Mcrip1 |
T |
C |
11: 120,435,530 (GRCm39) |
E35G |
probably damaging |
Het |
| Nle1 |
T |
A |
11: 82,793,879 (GRCm39) |
I386F |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,119,630 (GRCm39) |
I8V |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Pax8 |
T |
C |
2: 24,330,752 (GRCm39) |
D227G |
probably benign |
Het |
| Phf14 |
T |
C |
6: 12,047,845 (GRCm39) |
C885R |
probably damaging |
Het |
| Samd13 |
C |
T |
3: 146,368,446 (GRCm39) |
A49T |
probably damaging |
Het |
| Snrpa1 |
T |
A |
7: 65,713,586 (GRCm39) |
V101E |
probably benign |
Het |
| Styx |
A |
G |
14: 45,592,404 (GRCm39) |
E20G |
possibly damaging |
Het |
| Thoc1 |
T |
C |
18: 9,984,488 (GRCm39) |
Y325H |
probably damaging |
Het |
| Tmem163 |
T |
A |
1: 127,423,477 (GRCm39) |
T262S |
possibly damaging |
Het |
| Tsr1 |
T |
G |
11: 74,790,111 (GRCm39) |
L102R |
probably damaging |
Het |
| Vash1 |
G |
C |
12: 86,726,952 (GRCm39) |
R64P |
probably damaging |
Het |
| Vps13b |
A |
C |
15: 35,572,251 (GRCm39) |
D956A |
probably damaging |
Het |
| Vrk1 |
G |
A |
12: 106,024,120 (GRCm39) |
G199S |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,102,334 (GRCm39) |
S333T |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,768 (GRCm39) |
Y140H |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,635,789 (GRCm39) |
|
probably null |
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 |
|
R0048:Rhobtb3
|
UTSW |
13 |
76,050,364 (GRCm39) |
makesense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGATCCTGGGTGGTTCG -3'
(R):5'- GCTTCAGTTATCCCTGATGAACTAG -3'
Sequencing Primer
(F):5'- CGGATGATACTGGAATCCTGAATGTC -3'
(R):5'- CTGTCTTGAAAGCTGAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation