Incidental Mutation 'R8139:Rhobtb1'
| ID |
632426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhobtb1
|
| Ensembl Gene |
ENSMUSG00000019944 |
| Gene Name |
Rho-related BTB domain containing 1 |
| Synonyms |
3110048G13Rik, 1700008H16Rik |
| MMRRC Submission |
067567-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.498)
|
| Stock # |
R8139 (G1)
|
| Quality Score |
173.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
68987264-69127621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69102120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 134
(P134T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020101]
[ENSMUST00000067908]
[ENSMUST00000163497]
[ENSMUST00000164034]
[ENSMUST00000167384]
[ENSMUST00000168117]
|
| AlphaFold |
Q9DAK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020101
AA Change: P134T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: P134T
| 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: ENSMUST00000067908
AA Change: P134T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: P134T
| 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 damaging
Transcript: ENSMUST00000164034
AA Change: P134T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: P134T
| 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: ENSMUST00000167384
|
| SMART Domains |
Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
| 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 |
|
| Meta Mutation Damage Score |
0.9500 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.2%
|
| Validation Efficiency |
100% (84/84) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
G |
T |
X: 69,438,120 (GRCm39) |
Q58K |
possibly damaging |
Het |
| Aamdc |
T |
C |
7: 97,214,450 (GRCm39) |
M42V |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,074,959 (GRCm39) |
Q1368L |
probably damaging |
Het |
| Best3 |
G |
A |
10: 116,840,331 (GRCm39) |
G254R |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,602,697 (GRCm39) |
I1478N |
probably damaging |
Het |
| Ccdc113 |
T |
A |
8: 96,285,366 (GRCm39) |
M350K |
possibly damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,896,884 (GRCm39) |
H389L |
probably damaging |
Het |
| Cnn3 |
G |
T |
3: 121,248,718 (GRCm39) |
M208I |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,698 (GRCm39) |
D345G |
unknown |
Het |
| Degs1l |
A |
G |
1: 180,882,358 (GRCm39) |
D40G |
probably damaging |
Het |
| Dnah14 |
G |
T |
1: 181,582,853 (GRCm39) |
V3131F |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,230,933 (GRCm39) |
M2842K |
probably benign |
Het |
| Dus3l |
C |
T |
17: 57,074,058 (GRCm39) |
Q211* |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,758,685 (GRCm39) |
F171S |
probably benign |
Het |
| Elac2 |
T |
C |
11: 64,871,440 (GRCm39) |
I117T |
probably benign |
Het |
| Fam13b |
A |
G |
18: 34,606,686 (GRCm39) |
C302R |
possibly damaging |
Het |
| Fbxl5 |
G |
A |
5: 43,916,087 (GRCm39) |
Q442* |
probably null |
Het |
| Fhdc1 |
A |
G |
3: 84,358,790 (GRCm39) |
S370P |
probably damaging |
Het |
| Gtf3c6 |
T |
C |
10: 40,133,469 (GRCm39) |
|
probably null |
Het |
| I830077J02Rik |
A |
G |
3: 105,835,314 (GRCm39) |
V21A |
probably benign |
Het |
| Inf2 |
G |
T |
12: 112,568,074 (GRCm39) |
E209* |
probably null |
Het |
| Irag1 |
A |
G |
7: 110,498,879 (GRCm39) |
|
probably null |
Het |
| Irs1 |
A |
T |
1: 82,267,460 (GRCm39) |
M252K |
probably damaging |
Het |
| Kcng3 |
C |
A |
17: 83,938,516 (GRCm39) |
V178L |
probably damaging |
Het |
| Kif16b |
A |
C |
2: 142,743,285 (GRCm39) |
S3A |
probably benign |
Het |
| Kit |
T |
C |
5: 75,813,465 (GRCm39) |
M884T |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,730,587 (GRCm39) |
|
probably benign |
Het |
| Kptn |
T |
C |
7: 15,857,901 (GRCm39) |
I243T |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,468,192 (GRCm39) |
E947K |
possibly damaging |
Het |
| Lyl1 |
A |
T |
8: 85,429,476 (GRCm39) |
I62L |
probably damaging |
Het |
| Mmp24 |
C |
T |
2: 155,655,965 (GRCm39) |
R468* |
probably null |
Het |
| Mtx2 |
G |
A |
2: 74,706,714 (GRCm39) |
D230N |
probably benign |
Het |
| Ndufa5 |
A |
T |
6: 24,522,757 (GRCm39) |
Y28* |
probably null |
Het |
| Notch4 |
G |
T |
17: 34,803,774 (GRCm39) |
E1515* |
probably null |
Het |
| Nrxn3 |
A |
G |
12: 90,171,438 (GRCm39) |
N923S |
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,251,538 (GRCm39) |
T116M |
possibly damaging |
Het |
| Oosp1 |
T |
C |
19: 11,645,118 (GRCm39) |
E182G |
possibly damaging |
Het |
| Or4c115 |
A |
G |
2: 88,928,187 (GRCm39) |
V28A |
probably benign |
Het |
| Or5p67 |
T |
A |
7: 107,922,113 (GRCm39) |
T257S |
probably benign |
Het |
| Or7g20 |
A |
T |
9: 18,946,871 (GRCm39) |
I151F |
probably benign |
Het |
| Or7g28 |
A |
C |
9: 19,272,504 (GRCm39) |
V49G |
probably damaging |
Het |
| Oxnad1 |
C |
A |
14: 31,814,048 (GRCm39) |
T47K |
possibly damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,095,791 (GRCm39) |
M767V |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,715,773 (GRCm39) |
H1444Q |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,604,309 (GRCm39) |
Q2224K |
probably benign |
Het |
| Pgr |
A |
T |
9: 8,956,341 (GRCm39) |
H763L |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,058,510 (GRCm39) |
D3809G |
probably damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,074,430 (GRCm39) |
S155P |
probably damaging |
Het |
| Ppfia4 |
A |
G |
1: 134,228,266 (GRCm39) |
V1090A |
probably benign |
Het |
| Ptgdr |
T |
C |
14: 45,096,142 (GRCm39) |
E190G |
probably benign |
Het |
| Rhbdd2 |
T |
A |
5: 135,665,189 (GRCm39) |
C173* |
probably null |
Het |
| Slc25a36 |
A |
T |
9: 96,962,505 (GRCm39) |
F161L |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,869,199 (GRCm39) |
T596A |
probably benign |
Het |
| Slco1a6 |
T |
C |
6: 142,035,626 (GRCm39) |
Y566C |
probably damaging |
Het |
| Snx15 |
T |
G |
19: 6,169,945 (GRCm39) |
K321T |
probably damaging |
Het |
| Snx15 |
T |
C |
19: 6,169,946 (GRCm39) |
K321E |
probably damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Syt8 |
T |
C |
7: 141,992,005 (GRCm39) |
I32T |
probably benign |
Het |
| Thumpd1 |
T |
C |
7: 119,319,808 (GRCm39) |
N53D |
possibly damaging |
Het |
| Timm21 |
T |
C |
18: 84,969,263 (GRCm39) |
T54A |
probably benign |
Het |
| Tmed10 |
A |
G |
12: 85,391,091 (GRCm39) |
V149A |
probably damaging |
Het |
| Tmem108 |
T |
A |
9: 103,377,084 (GRCm39) |
M122L |
probably benign |
Het |
| Tram1l1 |
A |
G |
3: 124,115,436 (GRCm39) |
I199V |
probably benign |
Het |
| Tspan8 |
A |
G |
10: 115,675,802 (GRCm39) |
N156S |
probably benign |
Het |
| Vamp9 |
A |
G |
5: 100,072,785 (GRCm39) |
I111V |
probably benign |
Het |
| Vars1 |
T |
C |
17: 35,230,480 (GRCm39) |
V521A |
probably benign |
Het |
| Vmn2r54 |
G |
T |
7: 12,349,743 (GRCm39) |
T613N |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,607,418 (GRCm39) |
L1117* |
probably null |
Het |
| Vps33a |
T |
C |
5: 123,672,015 (GRCm39) |
K451R |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,113,153 (GRCm39) |
I35T |
probably benign |
Het |
| Xpnpep3 |
T |
A |
15: 81,332,660 (GRCm39) |
L399Q |
probably damaging |
Het |
| Zfp438 |
T |
C |
18: 5,214,013 (GRCm39) |
E315G |
probably benign |
Het |
| Zfp467 |
C |
T |
6: 48,416,268 (GRCm39) |
G128D |
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 |
|
|
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 |
|
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'- TGGGTTTAATATCCAGCCCTG -3'
(R):5'- TCATAGGTGTAGCCTCCTCG -3'
Sequencing Primer
(F):5'- TGACATGACAGACTTAAATAAGTGG -3'
(R):5'- CTCCTCGGTGGCCAATGAAAAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation