Incidental Mutation 'IGL02969:Rhobtb3'
| ID |
365748 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhobtb3
|
| Ensembl Gene |
ENSMUSG00000021589 |
| Gene Name |
Rho-related BTB domain containing 3 |
| Synonyms |
4930503C18Rik, 1700040C17Rik, 2610033K01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
IGL02969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
76017656-76092044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76091550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| 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: S2P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022078
Gene: ENSMUSG00000021589
AA Change: S2P
| 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 damaging
Transcript: ENSMUST00000109606
AA Change: S2P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105235
Gene: ENSMUSG00000021589
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
45 |
195 |
1.3e-7 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,946,866 (GRCm39) |
|
probably benign |
Het |
| Acsbg3 |
A |
T |
17: 57,190,751 (GRCm39) |
T440S |
probably damaging |
Het |
| Akap12 |
T |
A |
10: 4,304,864 (GRCm39) |
V558E |
probably damaging |
Het |
| Atg4c |
T |
C |
4: 99,146,624 (GRCm39) |
|
probably benign |
Het |
| Atg7 |
T |
A |
6: 114,701,884 (GRCm39) |
N673K |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,040,279 (GRCm39) |
D900G |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 143,025,669 (GRCm39) |
Y176C |
probably damaging |
Het |
| Cep70 |
A |
T |
9: 99,180,557 (GRCm39) |
I571F |
possibly damaging |
Het |
| Cir1 |
C |
T |
2: 73,134,120 (GRCm39) |
G150R |
probably null |
Het |
| Cyp46a1 |
T |
C |
12: 108,309,296 (GRCm39) |
V68A |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,881,579 (GRCm39) |
T883A |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,412,013 (GRCm39) |
K249N |
possibly damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,062,503 (GRCm39) |
K434R |
probably benign |
Het |
| Eri3 |
A |
G |
4: 117,506,508 (GRCm39) |
Y279C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Ilk |
A |
G |
7: 105,389,547 (GRCm39) |
K85E |
possibly damaging |
Het |
| Insrr |
G |
T |
3: 87,721,498 (GRCm39) |
G1135* |
probably null |
Het |
| Itgax |
T |
A |
7: 127,748,295 (GRCm39) |
M1108K |
probably benign |
Het |
| Mpzl3 |
C |
T |
9: 44,979,514 (GRCm39) |
T155I |
probably benign |
Het |
| Or4f57 |
A |
T |
2: 111,790,912 (GRCm39) |
C169S |
probably damaging |
Het |
| Or6c212 |
A |
T |
10: 129,559,065 (GRCm39) |
M116K |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polr2h |
A |
G |
16: 20,537,807 (GRCm39) |
Y68C |
probably damaging |
Het |
| Pramel47 |
C |
T |
5: 95,489,258 (GRCm39) |
P234S |
probably benign |
Het |
| Slc24a5 |
T |
C |
2: 124,925,147 (GRCm39) |
S263P |
probably damaging |
Het |
| Spz1 |
T |
G |
13: 92,711,851 (GRCm39) |
K208N |
possibly damaging |
Het |
| Tbpl2 |
C |
A |
2: 23,981,105 (GRCm39) |
C231F |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,938,440 (GRCm39) |
I869M |
probably damaging |
Het |
| Tesk1 |
G |
A |
4: 43,447,027 (GRCm39) |
E472K |
possibly damaging |
Het |
| Tesk1 |
C |
A |
4: 43,447,026 (GRCm39) |
C471* |
probably null |
Het |
| Thoc2l |
C |
T |
5: 104,667,209 (GRCm39) |
T577I |
probably benign |
Het |
| Tmem213 |
T |
A |
6: 38,092,601 (GRCm39) |
V111E |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,563,558 (GRCm39) |
Y612N |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,729,707 (GRCm39) |
|
probably benign |
Het |
| Vmn2r113 |
G |
A |
17: 23,177,591 (GRCm39) |
V792I |
probably benign |
Het |
| Wdfy1 |
A |
G |
1: 79,691,588 (GRCm39) |
V273A |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,623,200 (GRCm39) |
S762P |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation