Incidental Mutation 'R7427:Rhobtb1'
ID |
576190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rhobtb1
|
Ensembl Gene |
ENSMUSG00000019944 |
Gene Name |
Rho-related BTB domain containing 1 |
Synonyms |
3110048G13Rik, 1700008H16Rik |
MMRRC Submission |
045505-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.498)
|
Stock # |
R7427 (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 A
at 69084654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 15
(I15N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020101]
[ENSMUST00000067908]
[ENSMUST00000163497]
[ENSMUST00000164034]
[ENSMUST00000164212]
[ENSMUST00000167286]
[ENSMUST00000167384]
[ENSMUST00000168117]
[ENSMUST00000172261]
|
AlphaFold |
Q9DAK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020101
AA Change: I15N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020101 Gene: ENSMUSG00000019944 AA Change: I15N
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: I15N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065095 Gene: ENSMUSG00000019944 AA Change: I15N
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: ENSMUST00000163497
AA Change: I15N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129119 Gene: ENSMUSG00000019944 AA Change: I15N
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
16 |
96 |
1.8e-5 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164034
AA Change: I15N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132068 Gene: ENSMUSG00000019944 AA Change: I15N
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: ENSMUST00000164212
AA Change: I15N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128356 Gene: ENSMUSG00000019944 AA Change: I15N
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
16 |
94 |
1.8e-5 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167286
AA Change: I15N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131313 Gene: ENSMUSG00000019944 AA Change: I15N
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
16 |
93 |
1.7e-5 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167384
AA Change: I15N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131222 Gene: ENSMUSG00000019944 AA Change: I15N
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 damaging
Transcript: ENSMUST00000168117
AA Change: I15N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131509 Gene: ENSMUSG00000019944 AA Change: I15N
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
16 |
97 |
1.9e-6 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172261
AA Change: I15N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128667 Gene: ENSMUSG00000019944 AA Change: I15N
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
16 |
95 |
1.8e-5 |
PFAM |
|
Meta Mutation Damage Score |
0.9476 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (78/78) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
T |
A |
15: 76,478,585 (GRCm39) |
C318S |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,385,354 (GRCm39) |
C333S |
probably benign |
Het |
B3gnt4 |
A |
G |
5: 123,648,794 (GRCm39) |
N53S |
probably damaging |
Het |
Bpifb5 |
G |
A |
2: 154,067,042 (GRCm39) |
M98I |
probably benign |
Het |
Cacna2d3 |
A |
G |
14: 28,786,232 (GRCm39) |
M585T |
probably damaging |
Het |
Cbarp |
T |
C |
10: 79,967,138 (GRCm39) |
D701G |
probably damaging |
Het |
Ccn2 |
T |
G |
10: 24,473,397 (GRCm39) |
M312R |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,060,546 (GRCm39) |
W1913R |
probably benign |
Het |
Cry2 |
T |
C |
2: 92,243,392 (GRCm39) |
D483G |
possibly damaging |
Het |
Csmd1 |
A |
G |
8: 16,073,864 (GRCm39) |
F2044L |
possibly damaging |
Het |
Cxcl16 |
A |
G |
11: 70,349,630 (GRCm39) |
V78A |
possibly damaging |
Het |
Cxcr6 |
A |
T |
9: 123,639,305 (GRCm39) |
Y109F |
probably benign |
Het |
Cyb5b |
A |
G |
8: 107,897,048 (GRCm39) |
D106G |
probably benign |
Het |
D630036H23Rik |
T |
C |
12: 36,431,537 (GRCm39) |
R154G |
unknown |
Het |
Dnah9 |
T |
C |
11: 65,846,045 (GRCm39) |
T2998A |
probably benign |
Het |
Focad |
T |
C |
4: 88,286,988 (GRCm39) |
S1254P |
unknown |
Het |
Gm21886 |
A |
T |
18: 80,132,867 (GRCm39) |
L97Q |
probably damaging |
Het |
Gpr158 |
A |
C |
2: 21,832,129 (GRCm39) |
L1076F |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,009,485 (GRCm39) |
M1714T |
possibly damaging |
Het |
Hlcs |
A |
G |
16: 94,068,758 (GRCm39) |
V154A |
probably benign |
Het |
Hpdl |
A |
T |
4: 116,678,062 (GRCm39) |
L133Q |
probably damaging |
Het |
Il1rn |
C |
A |
2: 24,239,554 (GRCm39) |
T150K |
probably benign |
Het |
Il6st |
A |
G |
13: 112,625,094 (GRCm39) |
I237V |
probably benign |
Het |
Inpp5f |
A |
G |
7: 128,281,529 (GRCm39) |
D510G |
probably damaging |
Het |
Ism2 |
G |
T |
12: 87,333,769 (GRCm39) |
T92K |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,025,909 (GRCm39) |
I1422T |
probably benign |
Het |
Kit |
G |
A |
5: 75,806,507 (GRCm39) |
V671I |
possibly damaging |
Het |
Klhdc8a |
A |
T |
1: 132,230,705 (GRCm39) |
N190I |
probably damaging |
Het |
Lad1 |
C |
T |
1: 135,753,576 (GRCm39) |
T41I |
probably damaging |
Het |
Lrrc7 |
G |
T |
3: 157,903,778 (GRCm39) |
T294K |
probably benign |
Het |
Megf8 |
C |
T |
7: 25,037,796 (GRCm39) |
R771C |
probably benign |
Het |
Micu3 |
A |
C |
8: 40,831,955 (GRCm39) |
N440T |
possibly damaging |
Het |
Mnx1 |
T |
C |
5: 29,679,211 (GRCm39) |
N291D |
unknown |
Het |
Mthfr |
A |
G |
4: 148,136,060 (GRCm39) |
M378V |
probably benign |
Het |
Mup2 |
A |
T |
4: 60,138,454 (GRCm39) |
D79E |
probably benign |
Het |
Myzap |
T |
C |
9: 71,412,465 (GRCm39) |
T451A |
probably benign |
Het |
Nlrp9c |
T |
C |
7: 26,070,860 (GRCm39) |
D907G |
probably benign |
Het |
Nr1h4 |
T |
C |
10: 89,334,267 (GRCm39) |
E41G |
probably benign |
Het |
Nup98 |
A |
T |
7: 101,784,208 (GRCm39) |
|
probably null |
Het |
Nxpe5 |
A |
C |
5: 138,238,022 (GRCm39) |
Y194S |
probably damaging |
Het |
Omd |
A |
T |
13: 49,745,745 (GRCm39) |
E385V |
possibly damaging |
Het |
Or12d15 |
T |
C |
17: 37,694,190 (GRCm39) |
V244A |
probably damaging |
Het |
Or12e9 |
G |
T |
2: 87,202,034 (GRCm39) |
V53L |
probably benign |
Het |
Or2av9 |
A |
G |
11: 58,380,606 (GRCm39) |
I325T |
probably benign |
Het |
Or52m1 |
A |
G |
7: 102,289,533 (GRCm39) |
I27V |
probably benign |
Het |
Or5m12 |
T |
A |
2: 85,734,475 (GRCm39) |
R308* |
probably null |
Het |
Or5m3 |
A |
T |
2: 85,838,563 (GRCm39) |
I148L |
probably benign |
Het |
Or9s18 |
A |
G |
13: 65,300,866 (GRCm39) |
Y276C |
probably damaging |
Het |
Pcdh9 |
G |
T |
14: 94,124,547 (GRCm39) |
T541K |
probably damaging |
Het |
Pdia6 |
T |
C |
12: 17,328,546 (GRCm39) |
V167A |
probably damaging |
Het |
Phf7 |
C |
T |
14: 30,962,370 (GRCm39) |
R145Q |
possibly damaging |
Het |
Pitx3 |
T |
C |
19: 46,125,863 (GRCm39) |
D20G |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,937,236 (GRCm39) |
V1139A |
probably benign |
Het |
Pon2 |
A |
T |
6: 5,268,995 (GRCm39) |
N226K |
probably damaging |
Het |
Potegl |
C |
T |
2: 23,147,006 (GRCm39) |
R337C |
probably benign |
Het |
Ppp1r10 |
T |
A |
17: 36,241,025 (GRCm39) |
H642Q |
possibly damaging |
Het |
Prom2 |
A |
G |
2: 127,381,731 (GRCm39) |
L195P |
probably damaging |
Het |
Psg23 |
C |
T |
7: 18,345,908 (GRCm39) |
|
probably null |
Het |
Rfx4 |
C |
A |
10: 84,731,876 (GRCm39) |
Q618K |
probably benign |
Het |
Rhot2 |
A |
T |
17: 26,060,583 (GRCm39) |
V233E |
probably damaging |
Het |
Ripply2 |
T |
C |
9: 86,901,809 (GRCm39) |
S112P |
possibly damaging |
Het |
Slc12a1 |
C |
A |
2: 125,056,052 (GRCm39) |
T861N |
probably benign |
Het |
Slc35f1 |
T |
A |
10: 52,965,510 (GRCm39) |
S308R |
probably damaging |
Het |
Slc35f4 |
T |
A |
14: 49,536,355 (GRCm39) |
I427F |
probably damaging |
Het |
Slco1a8 |
T |
G |
6: 141,949,234 (GRCm39) |
|
probably null |
Het |
Sned1 |
G |
A |
1: 93,217,080 (GRCm39) |
V1322I |
probably benign |
Het |
Sprr2f |
G |
A |
3: 92,273,251 (GRCm39) |
V17M |
unknown |
Het |
Srd5a3 |
A |
G |
5: 76,302,490 (GRCm39) |
H285R |
probably benign |
Het |
Stab1 |
T |
C |
14: 30,881,216 (GRCm39) |
T605A |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,223,718 (GRCm39) |
Q3054R |
probably damaging |
Het |
Tas1r1 |
T |
C |
4: 152,122,765 (GRCm39) |
T27A |
probably benign |
Het |
Tmem150b |
A |
T |
7: 4,719,209 (GRCm39) |
V237E |
probably benign |
Het |
Trpv6 |
C |
T |
6: 41,602,087 (GRCm39) |
M407I |
probably benign |
Het |
Ttn |
T |
G |
2: 76,550,698 (GRCm39) |
D31528A |
probably damaging |
Het |
Uroc1 |
A |
T |
6: 90,323,344 (GRCm39) |
D354V |
possibly damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,060,467 (GRCm39) |
I372M |
probably benign |
Het |
Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
Zfp971 |
T |
A |
2: 177,674,967 (GRCm39) |
C189S |
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 |
|
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'- AGCTTGAGTTTCCCTTCCAAAC -3'
(R):5'- CAACAGTGATGGCCAAAGTATTC -3'
Sequencing Primer
(F):5'- AAACTTCTTGCCCGTGCC -3'
(R):5'- CAGGGTCTCAAGTAGCTCAG -3'
|
Posted On |
2019-10-07 |