Incidental Mutation 'R1687:Rhobtb1'
| ID |
189434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhobtb1
|
| Ensembl Gene |
ENSMUSG00000019944 |
| Gene Name |
Rho-related BTB domain containing 1 |
| Synonyms |
3110048G13Rik, 1700008H16Rik |
| MMRRC Submission |
039720-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.498)
|
| Stock # |
R1687 (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 69106109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 287
(T287A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132068
(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: T287A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: T287A
| 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: T287A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: T287A
| 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: T287A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: T287A
| 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 |
possibly damaging
Transcript: ENSMUST00000167384
AA Change: T225A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: T225A
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,184,714 (GRCm39) |
F931I |
probably benign |
Het |
| Alox15 |
T |
A |
11: 70,240,744 (GRCm39) |
H212L |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,035,538 (GRCm39) |
V268D |
probably benign |
Het |
| Armc9 |
A |
G |
1: 86,084,677 (GRCm39) |
M1V |
probably null |
Het |
| Brca1 |
C |
T |
11: 101,380,666 (GRCm39) |
C1789Y |
probably benign |
Het |
| Cacng4 |
A |
G |
11: 107,627,585 (GRCm39) |
V138A |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,829,627 (GRCm39) |
F699S |
probably damaging |
Het |
| Ccm2 |
A |
G |
11: 6,535,118 (GRCm39) |
R67G |
probably damaging |
Het |
| Cdk16 |
G |
A |
X: 20,562,898 (GRCm39) |
|
probably null |
Het |
| Cep85 |
T |
C |
4: 133,875,324 (GRCm39) |
H546R |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,768,502 (GRCm39) |
D207G |
probably damaging |
Het |
| Cldn9 |
G |
T |
17: 23,902,050 (GRCm39) |
R192S |
probably benign |
Het |
| Crybb3 |
A |
G |
5: 113,227,633 (GRCm39) |
S63P |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,341,523 (GRCm39) |
L615P |
probably damaging |
Het |
| Dctn3 |
A |
G |
4: 41,715,407 (GRCm39) |
Y154H |
probably damaging |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,645,009 (GRCm39) |
|
probably null |
Het |
| Eif1ad2 |
A |
G |
12: 87,786,488 (GRCm39) |
D133G |
unknown |
Het |
| Eml6 |
G |
A |
11: 29,783,187 (GRCm39) |
H565Y |
probably damaging |
Het |
| Ephb6 |
T |
C |
6: 41,594,300 (GRCm39) |
V610A |
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,434,282 (GRCm39) |
Y333C |
probably damaging |
Het |
| Fbln1 |
G |
A |
15: 85,111,307 (GRCm39) |
V154I |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,561,373 (GRCm39) |
W1045R |
probably benign |
Het |
| Fubp1 |
A |
G |
3: 151,933,838 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
T |
A |
14: 57,274,333 (GRCm39) |
N13I |
probably damaging |
Het |
| Gpr20 |
C |
A |
15: 73,567,751 (GRCm39) |
V213L |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,065,221 (GRCm39) |
I295T |
probably damaging |
Het |
| Gucy1b1 |
A |
G |
3: 81,945,349 (GRCm39) |
F430L |
probably damaging |
Het |
| Gzmk |
T |
A |
13: 113,310,462 (GRCm39) |
I119L |
probably benign |
Het |
| Hadh |
T |
C |
3: 131,038,898 (GRCm39) |
I153V |
probably benign |
Het |
| Hsfy2 |
T |
C |
1: 56,676,012 (GRCm39) |
Y175C |
probably damaging |
Het |
| Hspa5 |
T |
C |
2: 34,665,836 (GRCm39) |
I560T |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,038,945 (GRCm39) |
V863A |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,508,620 (GRCm39) |
D216G |
probably benign |
Het |
| Klc2 |
G |
A |
19: 5,161,682 (GRCm39) |
P303S |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,835,859 (GRCm39) |
V1192I |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,862,029 (GRCm39) |
S772P |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,909,935 (GRCm39) |
L96Q |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Nckap1 |
A |
G |
2: 80,350,929 (GRCm39) |
I726T |
probably damaging |
Het |
| Ndnf |
A |
T |
6: 65,680,407 (GRCm39) |
T229S |
probably benign |
Het |
| Npas3 |
A |
T |
12: 54,095,658 (GRCm39) |
|
probably null |
Het |
| Nrap |
C |
T |
19: 56,343,961 (GRCm39) |
E729K |
probably damaging |
Het |
| Nsun2 |
T |
A |
13: 69,775,716 (GRCm39) |
F387I |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Pabpc1l |
C |
T |
2: 163,886,226 (GRCm39) |
T452M |
probably benign |
Het |
| Pcdh10 |
T |
C |
3: 45,334,450 (GRCm39) |
Y255H |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,529,087 (GRCm39) |
Y72N |
probably damaging |
Het |
| Pglyrp1 |
A |
T |
7: 18,618,629 (GRCm39) |
|
probably benign |
Het |
| Pkp2 |
T |
C |
16: 16,086,573 (GRCm39) |
|
probably null |
Het |
| Ppard |
A |
G |
17: 28,516,154 (GRCm39) |
Y126C |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,295,344 (GRCm39) |
Y598H |
probably damaging |
Het |
| Sema4b |
T |
C |
7: 79,869,010 (GRCm39) |
Y361H |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,983 (GRCm39) |
I640N |
probably damaging |
Het |
| Smurf2 |
C |
A |
11: 106,726,896 (GRCm39) |
|
probably null |
Het |
| Spag5 |
T |
C |
11: 78,195,755 (GRCm39) |
V354A |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,650,473 (GRCm39) |
D1748G |
possibly damaging |
Het |
| St6galnac5 |
C |
A |
3: 152,686,887 (GRCm39) |
L22F |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,695,284 (GRCm39) |
S86P |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,747,299 (GRCm39) |
I111V |
possibly damaging |
Het |
| Tnni3k |
T |
A |
3: 154,645,263 (GRCm39) |
I541F |
possibly damaging |
Het |
| Trim36 |
G |
T |
18: 46,321,724 (GRCm39) |
H108N |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,701,251 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,935,317 (GRCm39) |
S89R |
probably benign |
Het |
| Vmn2r121 |
T |
C |
X: 123,042,488 (GRCm39) |
D223G |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,590,026 (GRCm39) |
Y630F |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,233,673 (GRCm39) |
S900T |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,117,481 (GRCm39) |
N731S |
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,525,451 (GRCm39) |
F123L |
probably damaging |
Het |
| Zfp648 |
A |
G |
1: 154,079,988 (GRCm39) |
D49G |
probably benign |
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 |
|
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 |
|
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'- ACGTGTTCGACAATGCCATCCG -3'
(R):5'- ATGCTGACAAACCCCTTGCTCC -3'
Sequencing Primer
(F):5'- GTCCAGAAGCCTCTGCTTCAG -3'
(R):5'- GCTTCCATCTGCAAAGCC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation