Incidental Mutation 'R2312:Rhobtb1'
ID |
247351 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rhobtb1
|
Ensembl Gene |
ENSMUSG00000019944 |
Gene Name |
Rho-related BTB domain containing 1 |
Synonyms |
3110048G13Rik, 1700008H16Rik |
MMRRC Submission |
040311-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.498)
|
Stock # |
R2312 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
68987264-69127621 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 69106293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 286
(S286*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020101]
[ENSMUST00000067908]
[ENSMUST00000163497]
[ENSMUST00000164034]
[ENSMUST00000167384]
[ENSMUST00000168117]
|
AlphaFold |
Q9DAK3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020101
AA Change: S348*
|
SMART Domains |
Protein: ENSMUSP00000020101 Gene: ENSMUSG00000019944 AA Change: S348*
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 null
Transcript: ENSMUST00000067908
AA Change: S348*
|
SMART Domains |
Protein: ENSMUSP00000065095 Gene: ENSMUSG00000019944 AA Change: S348*
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 null
Transcript: ENSMUST00000164034
AA Change: S348*
|
SMART Domains |
Protein: ENSMUSP00000132068 Gene: ENSMUSG00000019944 AA Change: S348*
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 null
Transcript: ENSMUST00000167384
AA Change: S286*
|
SMART Domains |
Protein: ENSMUSP00000131222 Gene: ENSMUSG00000019944 AA Change: S286*
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 |
noncoding transcript
Transcript: ENSMUST00000169569
|
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp12 |
A |
G |
1: 92,934,531 (GRCm39) |
E136G |
probably benign |
Het |
Bltp3b |
A |
G |
10: 89,616,995 (GRCm39) |
T179A |
probably damaging |
Het |
Cdhr4 |
G |
A |
9: 107,872,486 (GRCm39) |
V244I |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crygf |
A |
T |
1: 65,965,717 (GRCm39) |
M1L |
probably benign |
Het |
Dapk1 |
G |
T |
13: 60,905,167 (GRCm39) |
C959F |
probably damaging |
Het |
Dop1a |
C |
G |
9: 86,403,495 (GRCm39) |
S1565* |
probably null |
Het |
Eya4 |
A |
G |
10: 22,982,163 (GRCm39) |
S622P |
probably damaging |
Het |
Fbln1 |
T |
C |
15: 85,147,549 (GRCm39) |
V598A |
probably benign |
Het |
Gldc |
A |
T |
19: 30,078,226 (GRCm39) |
F924I |
probably damaging |
Het |
H1f10 |
T |
C |
6: 87,958,130 (GRCm39) |
Y70C |
probably damaging |
Het |
Herc1 |
C |
A |
9: 66,415,563 (GRCm39) |
S4846* |
probably null |
Het |
Jmjd1c |
A |
T |
10: 67,074,629 (GRCm39) |
K1917N |
probably damaging |
Het |
Kcnh2 |
A |
G |
5: 24,529,952 (GRCm39) |
|
probably null |
Het |
Lmtk2 |
T |
C |
5: 144,110,444 (GRCm39) |
F388S |
probably damaging |
Het |
Lpar1 |
A |
C |
4: 58,487,168 (GRCm39) |
Y34* |
probably null |
Het |
Lrpprc |
G |
A |
17: 85,080,686 (GRCm39) |
P180S |
probably damaging |
Het |
Mex3a |
A |
G |
3: 88,443,785 (GRCm39) |
H287R |
probably damaging |
Het |
Nid1 |
A |
G |
13: 13,675,078 (GRCm39) |
T933A |
probably benign |
Het |
Or52r1c |
A |
G |
7: 102,735,633 (GRCm39) |
T298A |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,475,250 (GRCm39) |
T129A |
probably benign |
Het |
Pfkm |
T |
A |
15: 98,023,456 (GRCm39) |
Y385N |
probably damaging |
Het |
Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
Prx |
T |
C |
7: 27,216,051 (GRCm39) |
V184A |
possibly damaging |
Het |
Ptgdr |
A |
C |
14: 45,096,619 (GRCm39) |
L31R |
probably damaging |
Het |
Rab3b |
A |
G |
4: 108,747,691 (GRCm39) |
T63A |
probably damaging |
Het |
Rassf1 |
T |
C |
9: 107,434,749 (GRCm39) |
M156T |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rmnd1 |
A |
T |
10: 4,377,466 (GRCm39) |
M71K |
probably benign |
Het |
Rnf130 |
T |
A |
11: 49,978,290 (GRCm39) |
|
probably null |
Het |
Rxrb |
T |
A |
17: 34,251,103 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
G |
T |
13: 11,753,128 (GRCm39) |
T1731K |
probably damaging |
Het |
Serpine2 |
A |
T |
1: 79,780,570 (GRCm39) |
L293Q |
probably damaging |
Het |
Skint6 |
T |
C |
4: 113,095,339 (GRCm39) |
T107A |
probably damaging |
Het |
Slc9a8 |
T |
A |
2: 167,293,196 (GRCm39) |
H181Q |
probably benign |
Het |
Spaca3 |
A |
T |
11: 80,754,037 (GRCm39) |
Y58F |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,104,249 (GRCm39) |
T152A |
probably damaging |
Het |
Tlr2 |
A |
G |
3: 83,744,847 (GRCm39) |
L412P |
probably damaging |
Het |
Trak2 |
A |
G |
1: 58,974,941 (GRCm39) |
S84P |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trpm2 |
C |
A |
10: 77,754,798 (GRCm39) |
E1229D |
probably benign |
Het |
Ttc14 |
A |
G |
3: 33,861,984 (GRCm39) |
|
probably null |
Het |
Tyrp1 |
G |
A |
4: 80,755,801 (GRCm39) |
W190* |
probably null |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vegfb |
C |
A |
19: 6,962,795 (GRCm39) |
R160L |
possibly damaging |
Het |
Vmn1r220 |
A |
G |
13: 23,368,147 (GRCm39) |
M183T |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Wnt10a |
C |
A |
1: 74,842,589 (GRCm39) |
A355E |
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 |
|
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'- CATGACGAGGAGCACATCTTTG -3'
(R):5'- GTAGAGGAATCTCAGCAGGGTC -3'
Sequencing Primer
(F):5'- GCACATCTTTGCGCACCG -3'
(R):5'- AAAGGGCCTGACTGCATC -3'
|
Posted On |
2014-11-11 |