Incidental Mutation 'R6218:Rhobtb1'
ID |
503849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rhobtb1
|
Ensembl Gene |
ENSMUSG00000019944 |
Gene Name |
Rho-related BTB domain containing 1 |
Synonyms |
3110048G13Rik, 1700008H16Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.498)
|
Stock # |
R6218 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
68987264-69127621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 69106286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Proline
at position 284
(A284P)
|
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: A346P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000020101 Gene: ENSMUSG00000019944 AA Change: A346P
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: A346P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000065095 Gene: ENSMUSG00000019944 AA Change: A346P
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: A346P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000132068 Gene: ENSMUSG00000019944 AA Change: A346P
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: A284P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000131222 Gene: ENSMUSG00000019944 AA Change: A284P
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
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
G |
T |
11: 99,728,730 (GRCm39) |
Q38K |
probably benign |
Het |
9930111J21Rik2 |
A |
T |
11: 48,910,134 (GRCm39) |
N766K |
probably benign |
Het |
Adam15 |
A |
C |
3: 89,251,190 (GRCm39) |
I505S |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,142,254 (GRCm39) |
M391T |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Bclaf1 |
A |
G |
10: 20,210,374 (GRCm39) |
S840G |
probably benign |
Het |
Cacna2d4 |
A |
G |
6: 119,216,021 (GRCm39) |
Y96C |
probably damaging |
Het |
Cald1 |
CAAAA |
CAAA |
6: 34,724,863 (GRCm39) |
|
probably null |
Het |
Ddhd1 |
A |
G |
14: 45,851,633 (GRCm39) |
L141P |
probably damaging |
Het |
Dnaaf3 |
A |
T |
7: 4,526,671 (GRCm39) |
S469T |
probably benign |
Het |
Dzip3 |
A |
T |
16: 48,778,828 (GRCm39) |
M323K |
possibly damaging |
Het |
Eci2 |
T |
A |
13: 35,177,048 (GRCm39) |
|
probably null |
Het |
Fam227b |
A |
T |
2: 125,968,882 (GRCm39) |
V64E |
probably damaging |
Het |
Galnt2 |
A |
G |
8: 125,070,054 (GRCm39) |
I524V |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm3443 |
T |
A |
19: 21,533,110 (GRCm39) |
S25T |
probably damaging |
Het |
Gpr22 |
T |
A |
12: 31,761,616 (GRCm39) |
K14* |
probably null |
Het |
Grip1 |
T |
C |
10: 119,822,251 (GRCm39) |
S405P |
possibly damaging |
Het |
Helz2 |
T |
C |
2: 180,877,738 (GRCm39) |
H1020R |
probably damaging |
Het |
Helz2 |
C |
A |
2: 180,874,087 (GRCm39) |
V2136L |
probably benign |
Het |
Il36rn |
G |
A |
2: 24,167,502 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
T |
A |
6: 90,666,617 (GRCm39) |
S607C |
probably damaging |
Het |
Irag1 |
G |
A |
7: 110,476,112 (GRCm39) |
T819M |
probably benign |
Het |
Klhl2 |
A |
T |
8: 65,205,801 (GRCm39) |
Y373* |
probably null |
Het |
L3mbtl3 |
T |
C |
10: 26,168,645 (GRCm39) |
I595V |
unknown |
Het |
Large2 |
T |
C |
2: 92,200,981 (GRCm39) |
D65G |
probably damaging |
Het |
Lrrfip1 |
T |
C |
1: 91,009,881 (GRCm39) |
Y122H |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,569,714 (GRCm39) |
D1002E |
unknown |
Het |
Mink1 |
C |
T |
11: 70,489,720 (GRCm39) |
T59I |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,092,507 (GRCm39) |
N2097D |
probably benign |
Het |
Nbea |
C |
A |
3: 55,535,905 (GRCm39) |
C2893F |
probably damaging |
Het |
Nlgn1 |
A |
T |
3: 25,490,257 (GRCm39) |
V490E |
probably damaging |
Het |
Or2w1b |
G |
A |
13: 21,300,401 (GRCm39) |
E180K |
probably damaging |
Het |
Or2y3 |
A |
G |
17: 38,393,620 (GRCm39) |
M83T |
probably damaging |
Het |
Or4c123 |
G |
T |
2: 89,127,306 (GRCm39) |
H103N |
probably damaging |
Het |
Or4f62 |
T |
C |
2: 111,986,701 (GRCm39) |
I135T |
probably damaging |
Het |
Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
Pctp |
A |
G |
11: 89,878,144 (GRCm39) |
I130T |
probably benign |
Het |
Pdcl3 |
T |
C |
1: 39,027,152 (GRCm39) |
|
probably null |
Het |
Pheta2 |
T |
A |
15: 82,227,917 (GRCm39) |
H145Q |
probably benign |
Het |
Pira12 |
A |
T |
7: 3,897,031 (GRCm39) |
S602T |
possibly damaging |
Het |
Pkp1 |
T |
C |
1: 135,807,646 (GRCm39) |
K541E |
probably damaging |
Het |
Plekhh2 |
G |
A |
17: 84,898,992 (GRCm39) |
V990I |
probably benign |
Het |
Ppp1r3a |
A |
T |
6: 14,718,430 (GRCm39) |
V828D |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,098,823 (GRCm39) |
Y712H |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,098,926 (GRCm39) |
S1477P |
probably benign |
Het |
Psma5 |
A |
G |
3: 108,187,118 (GRCm39) |
K239R |
probably benign |
Het |
Samsn1 |
G |
A |
16: 75,742,162 (GRCm39) |
|
noncoding transcript |
Het |
Scel |
A |
G |
14: 103,809,478 (GRCm39) |
T273A |
probably benign |
Het |
Slc22a5 |
T |
A |
11: 53,782,444 (GRCm39) |
|
probably benign |
Het |
Slc25a37 |
A |
T |
14: 69,486,953 (GRCm39) |
M110K |
possibly damaging |
Het |
Slc6a2 |
A |
T |
8: 93,708,609 (GRCm39) |
M242L |
probably benign |
Het |
Slc8a3 |
C |
A |
12: 81,246,341 (GRCm39) |
W904L |
probably benign |
Het |
Ss18l1 |
G |
A |
2: 179,696,905 (GRCm39) |
V109I |
probably benign |
Het |
Tbx5 |
C |
T |
5: 119,991,663 (GRCm39) |
H245Y |
probably damaging |
Het |
Thumpd2 |
C |
A |
17: 81,360,342 (GRCm39) |
L244F |
probably damaging |
Het |
Tmem107 |
T |
A |
11: 68,962,241 (GRCm39) |
V66E |
probably damaging |
Het |
Tnr |
T |
C |
1: 159,715,884 (GRCm39) |
V882A |
possibly damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttbk1 |
A |
G |
17: 46,781,733 (GRCm39) |
V340A |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 66,162,481 (GRCm39) |
E59G |
probably damaging |
Het |
Vmn1r234 |
T |
A |
17: 21,449,983 (GRCm39) |
M299K |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,770,610 (GRCm39) |
Y2018H |
probably benign |
Het |
Zbtb11 |
A |
G |
16: 55,818,436 (GRCm39) |
E620G |
probably benign |
Het |
Zfp418 |
A |
G |
7: 7,185,627 (GRCm39) |
H530R |
possibly damaging |
Het |
Zfp764l1 |
C |
T |
7: 126,992,581 (GRCm39) |
A10T |
possibly 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 |
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'- TGACGAGGAGCACATCTTTGC -3'
(R):5'- TAGAGGAATCTCAGCAGGGTCC -3'
Sequencing Primer
(F):5'- GCACATCTTTGCGCACCG -3'
(R):5'- AAAGGGCCTGACTGCATC -3'
|
Posted On |
2018-02-27 |