Incidental Mutation 'R6869:Rhobtb1'
ID |
536097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rhobtb1
|
Ensembl Gene |
ENSMUSG00000019944 |
Gene Name |
Rho-related BTB domain containing 1 |
Synonyms |
3110048G13Rik, 1700008H16Rik |
MMRRC Submission |
044966-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.498)
|
Stock # |
R6869 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
68987264-69127621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 69106056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 207
(L207P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020101]
[ENSMUST00000067908]
[ENSMUST00000163497]
[ENSMUST00000164034]
[ENSMUST00000167384]
[ENSMUST00000168117]
|
AlphaFold |
Q9DAK3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020101
AA Change: L269P
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000020101 Gene: ENSMUSG00000019944 AA Change: L269P
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 |
possibly damaging
Transcript: ENSMUST00000067908
AA Change: L269P
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000065095 Gene: ENSMUSG00000019944 AA Change: L269P
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 |
possibly damaging
Transcript: ENSMUST00000164034
AA Change: L269P
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132068 Gene: ENSMUSG00000019944 AA Change: L269P
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: ENSMUST00000167384
AA Change: L207P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131222 Gene: ENSMUSG00000019944 AA Change: L207P
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 |
0.3323 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (61/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
A |
T |
4: 144,507,042 (GRCm39) |
|
probably null |
Het |
Ankdd1b |
A |
T |
13: 96,580,799 (GRCm39) |
N166K |
possibly damaging |
Het |
Arhgap30 |
G |
T |
1: 171,236,623 (GRCm39) |
R999L |
probably damaging |
Het |
Bnc2 |
T |
A |
4: 84,211,733 (GRCm39) |
D212V |
probably damaging |
Het |
Bpifb5 |
T |
C |
2: 154,075,143 (GRCm39) |
I357T |
probably benign |
Het |
Catsperb |
T |
C |
12: 101,446,996 (GRCm39) |
F208S |
probably benign |
Het |
Cc2d2b |
T |
A |
19: 40,797,898 (GRCm39) |
H1105Q |
probably benign |
Het |
Chchd6 |
T |
C |
6: 89,572,478 (GRCm39) |
D17G |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,807,650 (GRCm39) |
S1855G |
probably benign |
Het |
Cpe |
A |
G |
8: 65,072,461 (GRCm39) |
V143A |
probably benign |
Het |
Cyfip1 |
T |
A |
7: 55,557,113 (GRCm39) |
V770D |
possibly damaging |
Het |
Cyp1a1 |
A |
T |
9: 57,610,067 (GRCm39) |
M494L |
probably benign |
Het |
Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
Dnah2 |
T |
A |
11: 69,320,297 (GRCm39) |
N3924I |
probably damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,316,481 (GRCm39) |
E76G |
probably damaging |
Het |
Fam91a1 |
T |
A |
15: 58,303,117 (GRCm39) |
V342E |
probably benign |
Het |
Fastkd1 |
G |
A |
2: 69,533,104 (GRCm39) |
A421V |
probably benign |
Het |
Fgf20 |
T |
C |
8: 40,734,189 (GRCm39) |
Y64C |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,291,442 (GRCm39) |
N847K |
probably benign |
Het |
Gm4922 |
A |
T |
10: 18,660,263 (GRCm39) |
I153K |
probably damaging |
Het |
Gm6619 |
T |
C |
6: 131,463,401 (GRCm39) |
I6T |
unknown |
Het |
H2-Ab1 |
T |
C |
17: 34,486,537 (GRCm39) |
Y199H |
probably damaging |
Het |
Hdac7 |
C |
A |
15: 97,694,057 (GRCm39) |
L737F |
probably damaging |
Het |
Hells |
A |
G |
19: 38,929,079 (GRCm39) |
N121D |
probably benign |
Het |
Itga2 |
G |
A |
13: 115,012,073 (GRCm39) |
|
probably null |
Het |
Itgb1 |
A |
G |
8: 129,446,516 (GRCm39) |
D391G |
probably benign |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lbx1 |
T |
A |
19: 45,223,390 (GRCm39) |
S93C |
probably damaging |
Het |
Lmod2 |
T |
C |
6: 24,604,126 (GRCm39) |
M367T |
probably benign |
Het |
Lrrc43 |
G |
A |
5: 123,642,339 (GRCm39) |
|
probably null |
Het |
Man2a2 |
C |
T |
7: 80,012,693 (GRCm39) |
G574D |
probably benign |
Het |
Mier2 |
T |
G |
10: 79,378,503 (GRCm39) |
K343T |
probably damaging |
Het |
Msh5 |
A |
T |
17: 35,260,810 (GRCm39) |
|
probably null |
Het |
Mtus1 |
T |
C |
8: 41,535,691 (GRCm39) |
Q675R |
possibly damaging |
Het |
Ncan |
A |
T |
8: 70,560,557 (GRCm39) |
H803Q |
probably benign |
Het |
Nckap5l |
A |
G |
15: 99,324,334 (GRCm39) |
V723A |
probably damaging |
Het |
Nectin3 |
G |
A |
16: 46,215,506 (GRCm39) |
R79C |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,248,583 (GRCm39) |
E1735G |
probably benign |
Het |
Nrros |
A |
G |
16: 31,963,249 (GRCm39) |
L220S |
probably damaging |
Het |
Or52r1c |
G |
A |
7: 102,735,075 (GRCm39) |
V112M |
possibly damaging |
Het |
Or5aq1b |
T |
A |
2: 86,902,017 (GRCm39) |
I154F |
probably benign |
Het |
Oxa1l |
C |
T |
14: 54,604,195 (GRCm39) |
P152S |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,484,174 (GRCm39) |
Y818H |
unknown |
Het |
Pik3cb |
A |
T |
9: 98,942,312 (GRCm39) |
S682T |
probably benign |
Het |
Ppp1r3a |
A |
C |
6: 14,754,825 (GRCm39) |
S141A |
probably benign |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
C |
10: 28,349,055 (GRCm39) |
|
probably null |
Het |
Ranbp17 |
T |
C |
11: 33,463,074 (GRCm39) |
|
probably benign |
Het |
Rcbtb1 |
T |
C |
14: 59,455,051 (GRCm39) |
V95A |
probably benign |
Het |
Retreg3 |
G |
A |
11: 101,010,644 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sh3bgr |
A |
G |
16: 96,007,860 (GRCm39) |
Y75C |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,520,761 (GRCm39) |
D763G |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,024,810 (GRCm39) |
V596E |
possibly damaging |
Het |
Tas2r138 |
A |
G |
6: 40,589,355 (GRCm39) |
I297T |
probably damaging |
Het |
Topors |
A |
C |
4: 40,261,201 (GRCm39) |
N694K |
unknown |
Het |
Tymp |
T |
C |
15: 89,260,894 (GRCm39) |
R20G |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,194,538 (GRCm39) |
T1144A |
possibly damaging |
Het |
Unc79 |
A |
T |
12: 103,079,331 (GRCm39) |
Q1636L |
probably benign |
Het |
Vmn1r78 |
A |
G |
7: 11,886,676 (GRCm39) |
M96V |
probably benign |
Het |
Wfdc8 |
C |
T |
2: 164,441,012 (GRCm39) |
D244N |
possibly damaging |
Het |
Zbtb49 |
G |
T |
5: 38,371,694 (GRCm39) |
N62K |
probably damaging |
Het |
Zfp579 |
G |
T |
7: 4,997,460 (GRCm39) |
D150E |
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 |
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 |
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'- TGGCATCAAGGACGTGTTCG -3'
(R):5'- CTGATCCAAGACTCTGCGTC -3'
Sequencing Primer
(F):5'- GACGTGTTCGACAATGCCATC -3'
(R):5'- GCGTCCGCCCCTGAAAATC -3'
|
Posted On |
2018-10-18 |