Incidental Mutation 'R4170:Rtkn'
| ID |
320737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtkn
|
| Ensembl Gene |
ENSMUSG00000034930 |
| Gene Name |
rhotekin |
| Synonyms |
|
| MMRRC Submission |
040863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4170 (G1)
|
| Quality Score |
87 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83112485-83129560 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to G
at 83119376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 1
(M1R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065512]
[ENSMUST00000087938]
[ENSMUST00000121093]
[ENSMUST00000129316]
[ENSMUST00000130622]
[ENSMUST00000135490]
|
| AlphaFold |
Q8C6B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065512
|
| SMART Domains |
Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
36 |
99 |
5.65e-13 |
SMART |
|
Pfam:Anillin
|
117 |
270 |
8.3e-46 |
PFAM |
|
PH
|
310 |
418 |
2.3e-4 |
SMART |
|
low complexity region
|
490 |
505 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087938
|
| SMART Domains |
Protein: ENSMUSP00000085249
Gene: ENSMUSG00000034930
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
23 |
86 |
1.62e-13 |
SMART |
|
Pfam:Anillin
|
103 |
258 |
8e-25 |
PFAM |
|
PH
|
297 |
405 |
2.3e-4 |
SMART |
|
low complexity region
|
477 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121093
|
| SMART Domains |
Protein: ENSMUSP00000112501
Gene: ENSMUSG00000034930
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
23 |
86 |
1.62e-13 |
SMART |
|
Pfam:Anillin
|
103 |
258 |
8e-25 |
PFAM |
|
PH
|
297 |
405 |
2.3e-4 |
SMART |
|
low complexity region
|
477 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129316
|
| SMART Domains |
Protein: ENSMUSP00000120640
Gene: ENSMUSG00000034930
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Hr1
|
1 |
49 |
6e-27 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130622
AA Change: M1R
|
| SMART Domains |
Protein: ENSMUSP00000122660
Gene: ENSMUSG00000034930
AA Change: M1R
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
55 |
118 |
1.97e-12 |
SMART |
|
Pfam:Anillin
|
135 |
217 |
2.8e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135490
|
| SMART Domains |
Protein: ENSMUSP00000116964
Gene: ENSMUSG00000034930
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Hr1
|
1 |
49 |
2e-25 |
BLAST |
|
Pfam:Anillin
|
66 |
221 |
1.8e-25 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700047A11Rik |
T |
A |
8: 26,585,815 (GRCm39) |
T63S |
probably benign |
Het |
| Acap3 |
T |
A |
4: 155,984,458 (GRCm39) |
S189T |
possibly damaging |
Het |
| Acsbg2 |
G |
A |
17: 57,160,846 (GRCm39) |
T266I |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,035,933 (GRCm39) |
D1144G |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,223,143 (GRCm39) |
D365G |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,854,638 (GRCm39) |
D1542V |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,717,831 (GRCm39) |
V337D |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
T |
C |
14: 32,288,754 (GRCm39) |
L867P |
probably damaging |
Het |
| Gdf6 |
A |
G |
4: 9,859,650 (GRCm39) |
D244G |
probably benign |
Het |
| Get1 |
G |
A |
16: 95,954,176 (GRCm39) |
A92T |
probably benign |
Het |
| Gzmn |
T |
C |
14: 56,404,261 (GRCm39) |
D192G |
possibly damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,817,529 (GRCm39) |
Q169* |
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mmp23 |
C |
T |
4: 155,735,767 (GRCm39) |
R268Q |
probably damaging |
Het |
| Or1j17 |
C |
A |
2: 36,578,734 (GRCm39) |
T240N |
probably damaging |
Het |
| Or5p58 |
T |
A |
7: 107,694,280 (GRCm39) |
I166L |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,476,524 (GRCm39) |
A378S |
probably benign |
Het |
| Ptf1a |
C |
T |
2: 19,451,819 (GRCm39) |
L273F |
possibly damaging |
Het |
| Ptpru |
A |
T |
4: 131,503,659 (GRCm39) |
Y1124N |
probably damaging |
Het |
| Rttn |
T |
A |
18: 88,993,847 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,886 (GRCm39) |
D468G |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Smarcd1 |
T |
C |
15: 99,605,812 (GRCm39) |
L320P |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,703 (GRCm39) |
M47L |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,920,037 (GRCm39) |
M2258T |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,800,988 (GRCm39) |
D1431E |
probably benign |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Tut4 |
A |
G |
4: 108,405,256 (GRCm39) |
Y1293C |
probably damaging |
Het |
| Zbtb46 |
T |
C |
2: 181,066,148 (GRCm39) |
M1V |
probably null |
Het |
| Zfp7 |
T |
C |
15: 76,775,818 (GRCm39) |
V620A |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,083,832 (GRCm39) |
F95I |
probably damaging |
Het |
|
| Other mutations in Rtkn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01538:Rtkn
|
APN |
6 |
83,123,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02265:Rtkn
|
APN |
6 |
83,124,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02551:Rtkn
|
APN |
6 |
83,128,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Rtkn
|
APN |
6 |
83,124,853 (GRCm39) |
nonsense |
probably null |
|
|
IGL03388:Rtkn
|
APN |
6 |
83,127,071 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1648:Rtkn
|
UTSW |
6 |
83,112,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2100:Rtkn
|
UTSW |
6 |
83,126,541 (GRCm39) |
splice site |
probably null |
|
|
R2517:Rtkn
|
UTSW |
6 |
83,124,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Rtkn
|
UTSW |
6 |
83,127,016 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3946:Rtkn
|
UTSW |
6 |
83,112,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4630:Rtkn
|
UTSW |
6 |
83,129,163 (GRCm39) |
nonsense |
probably null |
|
|
R5044:Rtkn
|
UTSW |
6 |
83,127,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5102:Rtkn
|
UTSW |
6 |
83,126,754 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6165:Rtkn
|
UTSW |
6 |
83,122,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Rtkn
|
UTSW |
6 |
83,128,882 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7101:Rtkn
|
UTSW |
6 |
83,126,993 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7155:Rtkn
|
UTSW |
6 |
83,126,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7251:Rtkn
|
UTSW |
6 |
83,112,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Rtkn
|
UTSW |
6 |
83,128,726 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7598:Rtkn
|
UTSW |
6 |
83,124,884 (GRCm39) |
missense |
probably null |
0.96 |
|
R7624:Rtkn
|
UTSW |
6 |
83,129,158 (GRCm39) |
missense |
probably benign |
|
|
R8306:Rtkn
|
UTSW |
6 |
83,128,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:Rtkn
|
UTSW |
6 |
83,115,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Rtkn
|
UTSW |
6 |
83,128,018 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9169:Rtkn
|
UTSW |
6 |
83,129,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9252:Rtkn
|
UTSW |
6 |
83,125,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTGGAAAGAGAAGCCCG -3'
(R):5'- TCAAGGATGCGACCTCATGC -3'
Sequencing Primer
(F):5'- CTTGGAAAGAGAAGCCCGCTTAG -3'
(R):5'- ATGCTCGCTCCTGGTTAGCTAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation