Incidental Mutation 'R5248:Rhobtb1'
| ID |
398672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhobtb1
|
| Ensembl Gene |
ENSMUSG00000019944 |
| Gene Name |
Rho-related BTB domain containing 1 |
| Synonyms |
3110048G13Rik, 1700008H16Rik |
| MMRRC Submission |
042819-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
R5248 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
68987264-69127621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69084615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 2
(D2G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020101]
[ENSMUST00000067908]
[ENSMUST00000163497]
[ENSMUST00000164034]
[ENSMUST00000164212]
[ENSMUST00000167286]
[ENSMUST00000172261]
[ENSMUST00000167384]
[ENSMUST00000168117]
|
| AlphaFold |
Q9DAK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020101
AA Change: D2G
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: D2G
| 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: D2G
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: D2G
| 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 damaging
Transcript: ENSMUST00000163497
AA Change: D2G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129119
Gene: ENSMUSG00000019944
AA Change: D2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
16 |
96 |
1.8e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164034
AA Change: D2G
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: D2G
| 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 damaging
Transcript: ENSMUST00000164212
AA Change: D2G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128356
Gene: ENSMUSG00000019944
AA Change: D2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
16 |
94 |
1.8e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164876
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167286
AA Change: D2G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131313
Gene: ENSMUSG00000019944
AA Change: D2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
16 |
93 |
1.7e-5 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172261
AA Change: D2G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128667
Gene: ENSMUSG00000019944
AA Change: D2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
16 |
95 |
1.8e-5 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167384
AA Change: D2G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: D2G
| 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 damaging
Transcript: ENSMUST00000168117
AA Change: D2G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131509
Gene: ENSMUSG00000019944
AA Change: D2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
16 |
97 |
1.9e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,109,437 (GRCm39) |
E344D |
probably benign |
Het |
| Acoxl |
G |
A |
2: 127,917,855 (GRCm39) |
|
probably null |
Het |
| Adora1 |
A |
T |
1: 134,131,224 (GRCm39) |
L149Q |
possibly damaging |
Het |
| Aebp1 |
C |
A |
11: 5,818,501 (GRCm39) |
D115E |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,822,938 (GRCm39) |
I1819V |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,706,539 (GRCm39) |
H454R |
probably damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,906,842 (GRCm39) |
A1034V |
possibly damaging |
Het |
| B3galt2 |
T |
A |
1: 143,522,849 (GRCm39) |
F328L |
probably benign |
Het |
| Bbip1 |
G |
A |
19: 53,919,786 (GRCm39) |
|
probably benign |
Het |
| Brsk1 |
G |
A |
7: 4,711,865 (GRCm39) |
E572K |
possibly damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,442,897 (GRCm39) |
P716T |
possibly damaging |
Het |
| Clpx |
T |
C |
9: 65,228,132 (GRCm39) |
V380A |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,418,620 (GRCm39) |
Q608H |
probably damaging |
Het |
| Gprc6a |
G |
T |
10: 51,491,089 (GRCm39) |
P712T |
probably damaging |
Het |
| Itpr1 |
C |
A |
6: 108,519,023 (GRCm39) |
Q2720K |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,548,735 (GRCm39) |
E1080G |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,295,567 (GRCm39) |
R3163* |
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,888,755 (GRCm39) |
D292G |
probably benign |
Het |
| Mau2 |
A |
T |
8: 70,481,373 (GRCm39) |
C217S |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,714,220 (GRCm39) |
F210L |
probably damaging |
Het |
| Mtif2 |
G |
A |
11: 29,486,889 (GRCm39) |
V300M |
probably damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,694,905 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
C |
A |
2: 90,955,573 (GRCm39) |
|
probably null |
Het |
| Ncmap |
T |
C |
4: 135,107,430 (GRCm39) |
|
probably null |
Het |
| Nek9 |
A |
G |
12: 85,355,751 (GRCm39) |
F672S |
probably damaging |
Het |
| Nuak1 |
A |
T |
10: 84,245,542 (GRCm39) |
I101N |
probably damaging |
Het |
| Or8s16 |
T |
C |
15: 98,211,311 (GRCm39) |
N40S |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,286,515 (GRCm39) |
M1197K |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,618,939 (GRCm39) |
Q243P |
probably benign |
Het |
| Pcf11 |
T |
G |
7: 92,310,699 (GRCm39) |
K221Q |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,769 (GRCm39) |
R1182H |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 23,001,900 (GRCm39) |
P1330Q |
probably benign |
Het |
| Rbm33 |
T |
G |
5: 28,542,050 (GRCm39) |
|
probably null |
Het |
| Rngtt |
T |
A |
4: 33,325,110 (GRCm39) |
C110* |
probably null |
Het |
| Setx |
T |
A |
2: 29,038,430 (GRCm39) |
N1638K |
probably benign |
Het |
| Slc24a3 |
A |
T |
2: 145,446,437 (GRCm39) |
M282L |
probably benign |
Het |
| Slc7a1 |
A |
T |
5: 148,270,798 (GRCm39) |
V556D |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,077,407 (GRCm39) |
D69V |
possibly damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tas2r120 |
A |
T |
6: 132,634,110 (GRCm39) |
N64I |
probably damaging |
Het |
| Tcf25 |
G |
T |
8: 124,100,678 (GRCm39) |
A23S |
probably damaging |
Het |
| Tigd2 |
A |
T |
6: 59,188,138 (GRCm39) |
K335I |
probably damaging |
Het |
| Tlr6 |
A |
G |
5: 65,112,647 (GRCm39) |
S87P |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,797,200 (GRCm39) |
Y352F |
probably damaging |
Het |
| Tob2 |
T |
C |
15: 81,735,918 (GRCm39) |
Y17C |
probably damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Vmn1r179 |
T |
C |
7: 23,628,478 (GRCm39) |
V223A |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,447 (GRCm39) |
V67A |
probably benign |
Het |
| Zswim4 |
G |
T |
8: 84,946,561 (GRCm39) |
N698K |
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,133,182 (GRCm39) |
Q80R |
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 |
|
|
R2402:Rhobtb1
|
UTSW |
10 |
69,106,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- GTTCGCAGGAATAAACTGTTCAG -3'
(R):5'- CACGGTACTGATCAATGGCC -3'
Sequencing Primer
(F):5'- CTGTTCAGGGTCAAAATAACAGTGTG -3'
(R):5'- TGATCAATGGCCCACACGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation