Incidental Mutation 'R2402:Rhobtb1'
| ID |
248766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhobtb1
|
| Ensembl Gene |
ENSMUSG00000019944 |
| Gene Name |
Rho-related BTB domain containing 1 |
| Synonyms |
3110048G13Rik, 1700008H16Rik |
| MMRRC Submission |
040368-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.498)
|
| Stock # |
R2402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
68987264-69127621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69106254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 273
(G273D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020101]
[ENSMUST00000067908]
[ENSMUST00000163497]
[ENSMUST00000164034]
[ENSMUST00000167384]
[ENSMUST00000168117]
|
| AlphaFold |
Q9DAK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020101
AA Change: G335D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: G335D
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
17 |
210 |
5.8e-34 |
SMART |
|
low complexity region
|
225 |
246 |
N/A |
INTRINSIC |
|
BTB
|
266 |
456 |
6.29e-13 |
SMART |
|
BTB
|
484 |
582 |
9.03e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067908
AA Change: G335D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: G335D
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
17 |
210 |
5.8e-34 |
SMART |
|
low complexity region
|
225 |
246 |
N/A |
INTRINSIC |
|
BTB
|
266 |
456 |
6.29e-13 |
SMART |
|
BTB
|
484 |
582 |
9.03e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163497
|
| SMART Domains |
Protein: ENSMUSP00000129119
Gene: ENSMUSG00000019944
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
16 |
96 |
1.8e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164034
AA Change: G335D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: G335D
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
17 |
210 |
5.8e-34 |
SMART |
|
low complexity region
|
225 |
246 |
N/A |
INTRINSIC |
|
BTB
|
266 |
456 |
6.29e-13 |
SMART |
|
BTB
|
484 |
582 |
9.03e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167384
AA Change: G273D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: G273D
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RYT|C
|
10 |
97 |
8e-6 |
PDB |
|
SCOP:d1ky3a_
|
15 |
150 |
8e-16 |
SMART |
|
Blast:RHO
|
17 |
99 |
5e-50 |
BLAST |
|
low complexity region
|
163 |
184 |
N/A |
INTRINSIC |
|
BTB
|
204 |
394 |
6.29e-13 |
SMART |
|
BTB
|
422 |
520 |
9.03e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168117
|
| SMART Domains |
Protein: ENSMUSP00000131509
Gene: ENSMUSG00000019944
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
16 |
97 |
1.9e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169569
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,235,770 (GRCm39) |
D1199V |
probably damaging |
Het |
| Abcc6 |
A |
T |
7: 45,664,999 (GRCm39) |
S277R |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,035,280 (GRCm39) |
S269G |
probably damaging |
Het |
| Akap10 |
T |
C |
11: 61,806,048 (GRCm39) |
S227G |
probably benign |
Het |
| Angptl8 |
T |
C |
9: 21,747,112 (GRCm39) |
|
probably null |
Het |
| Arsi |
T |
C |
18: 61,049,539 (GRCm39) |
S141P |
possibly damaging |
Het |
| Atic |
T |
A |
1: 71,608,216 (GRCm39) |
Y303* |
probably null |
Het |
| Bbs9 |
C |
T |
9: 22,557,359 (GRCm39) |
P510L |
probably benign |
Het |
| Bcl2a1b |
A |
G |
9: 89,081,795 (GRCm39) |
N128S |
probably benign |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,549 (GRCm39) |
M75K |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,494,836 (GRCm39) |
L324Q |
probably damaging |
Het |
| Caskin1 |
T |
A |
17: 24,722,782 (GRCm39) |
L550Q |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,087,412 (GRCm39) |
I142T |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,738,882 (GRCm39) |
D2320E |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,632,461 (GRCm39) |
S297P |
probably damaging |
Het |
| Cr1l |
T |
A |
1: 194,789,210 (GRCm39) |
Y398F |
probably benign |
Het |
| Ctsa |
A |
T |
2: 164,676,813 (GRCm39) |
D145V |
probably benign |
Het |
| Ctsj |
C |
T |
13: 61,148,388 (GRCm39) |
G303D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,016,800 (GRCm39) |
I250M |
probably benign |
Het |
| Doc2a |
C |
A |
7: 126,447,919 (GRCm39) |
C54* |
probably null |
Het |
| Dpy19l2 |
T |
C |
9: 24,492,544 (GRCm39) |
T685A |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,728,535 (GRCm39) |
C243* |
probably null |
Het |
| Exoc3l4 |
A |
G |
12: 111,388,690 (GRCm39) |
T60A |
possibly damaging |
Het |
| Exph5 |
C |
A |
9: 53,286,225 (GRCm39) |
S1102* |
probably null |
Het |
| Fhl3 |
T |
C |
4: 124,599,481 (GRCm39) |
Y19H |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,528,646 (GRCm39) |
E1012G |
possibly damaging |
Het |
| Flvcr2 |
A |
G |
12: 85,829,777 (GRCm39) |
N262S |
probably benign |
Het |
| Gon4l |
G |
T |
3: 88,766,350 (GRCm39) |
C463F |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,428,631 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
T |
C |
8: 88,871,200 (GRCm39) |
C185R |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,792,317 (GRCm39) |
V2474A |
probably benign |
Het |
| Htr3a |
C |
T |
9: 48,812,795 (GRCm39) |
E215K |
probably damaging |
Het |
| Ica1l |
T |
C |
1: 60,045,451 (GRCm39) |
T271A |
probably benign |
Het |
| Klra2 |
A |
G |
6: 131,220,864 (GRCm39) |
I66T |
probably benign |
Het |
| Neto2 |
T |
C |
8: 86,417,541 (GRCm39) |
K21R |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
| Nisch |
T |
A |
14: 30,906,971 (GRCm39) |
|
probably benign |
Het |
| Nr4a1 |
G |
T |
15: 101,169,618 (GRCm39) |
R296L |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,496 (GRCm39) |
I184N |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,518,397 (GRCm39) |
V212A |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,452,198 (GRCm39) |
C1102* |
probably null |
Het |
| Phip |
C |
T |
9: 82,757,358 (GRCm39) |
A1605T |
probably benign |
Het |
| Pstpip2 |
T |
A |
18: 77,942,564 (GRCm39) |
M105K |
possibly damaging |
Het |
| Qprt |
C |
T |
7: 126,707,532 (GRCm39) |
V219I |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,195,112 (GRCm39) |
N1271K |
probably damaging |
Het |
| Reg3g |
A |
T |
6: 78,444,475 (GRCm39) |
L106H |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,861,952 (GRCm39) |
D771G |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,643,573 (GRCm39) |
I935V |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,763,792 (GRCm39) |
N397K |
probably damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,949,957 (GRCm39) |
Q205R |
probably benign |
Het |
| Tle5 |
T |
A |
10: 81,400,712 (GRCm39) |
C89S |
possibly damaging |
Het |
| Tubb2b |
T |
C |
13: 34,312,209 (GRCm39) |
N195D |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,095,843 (GRCm39) |
T84A |
probably benign |
Het |
| Usb1 |
T |
A |
8: 96,069,759 (GRCm39) |
F102L |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,529 (GRCm39) |
T650A |
possibly damaging |
Het |
| Zbtb41 |
A |
C |
1: 139,350,923 (GRCm39) |
D12A |
probably benign |
Het |
| Zbtb41 |
G |
T |
1: 139,350,925 (GRCm39) |
E13* |
probably null |
Het |
| Zfp821 |
C |
T |
8: 110,447,872 (GRCm39) |
S71F |
probably damaging |
Het |
|
| Other mutations in Rhobtb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00657:Rhobtb1
|
APN |
10 |
69,106,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01504:Rhobtb1
|
APN |
10 |
69,085,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01561:Rhobtb1
|
APN |
10 |
69,106,221 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01924:Rhobtb1
|
APN |
10 |
69,106,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Rhobtb1
|
APN |
10 |
69,085,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02334:Rhobtb1
|
APN |
10 |
69,121,508 (GRCm39) |
splice site |
probably benign |
|
|
IGL02393:Rhobtb1
|
APN |
10 |
69,124,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02514:Rhobtb1
|
APN |
10 |
69,125,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03192:Rhobtb1
|
APN |
10 |
69,084,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Rhobtb1
|
UTSW |
10 |
69,106,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Rhobtb1
|
UTSW |
10 |
69,108,602 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1713:Rhobtb1
|
UTSW |
10 |
69,108,601 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1750:Rhobtb1
|
UTSW |
10 |
69,115,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Rhobtb1
|
UTSW |
10 |
69,108,693 (GRCm39) |
splice site |
probably benign |
|
|
R2312:Rhobtb1
|
UTSW |
10 |
69,106,293 (GRCm39) |
nonsense |
probably null |
|
|
R3815:Rhobtb1
|
UTSW |
10 |
69,121,523 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4633:Rhobtb1
|
UTSW |
10 |
69,085,443 (GRCm39) |
splice site |
probably null |
|
|
R4737:Rhobtb1
|
UTSW |
10 |
69,115,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4780:Rhobtb1
|
UTSW |
10 |
69,105,983 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4865:Rhobtb1
|
UTSW |
10 |
69,106,554 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5124:Rhobtb1
|
UTSW |
10 |
69,105,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5248:Rhobtb1
|
UTSW |
10 |
69,084,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Rhobtb1
|
UTSW |
10 |
69,105,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5480:Rhobtb1
|
UTSW |
10 |
69,106,563 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5836:Rhobtb1
|
UTSW |
10 |
69,105,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5951:Rhobtb1
|
UTSW |
10 |
69,106,085 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6218:Rhobtb1
|
UTSW |
10 |
69,106,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6629:Rhobtb1
|
UTSW |
10 |
69,106,146 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6869:Rhobtb1
|
UTSW |
10 |
69,106,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7081:Rhobtb1
|
UTSW |
10 |
69,102,127 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7260:Rhobtb1
|
UTSW |
10 |
69,106,610 (GRCm39) |
nonsense |
probably null |
|
|
R7427:Rhobtb1
|
UTSW |
10 |
69,084,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Rhobtb1
|
UTSW |
10 |
69,084,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Rhobtb1
|
UTSW |
10 |
69,084,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Rhobtb1
|
UTSW |
10 |
69,102,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8144:Rhobtb1
|
UTSW |
10 |
69,125,388 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8712:Rhobtb1
|
UTSW |
10 |
69,106,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8723:Rhobtb1
|
UTSW |
10 |
69,106,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9116:Rhobtb1
|
UTSW |
10 |
69,106,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Rhobtb1
|
UTSW |
10 |
69,106,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:Rhobtb1
|
UTSW |
10 |
69,108,628 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9409:Rhobtb1
|
UTSW |
10 |
69,106,217 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9486:Rhobtb1
|
UTSW |
10 |
69,106,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9628:Rhobtb1
|
UTSW |
10 |
69,106,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9764:Rhobtb1
|
UTSW |
10 |
69,115,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Rhobtb1
|
UTSW |
10 |
69,125,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGTTTACTGGACAACCC -3'
(R):5'- CGCTTGGAAATGGGGTTGAC -3'
Sequencing Primer
(F):5'- TCCATGACGAGGAGCACATCTTTG -3'
(R):5'- GTTGACCCGCACCTCCCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation