Incidental Mutation 'R2517:Rtkn'
| ID |
253921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtkn
|
| Ensembl Gene |
ENSMUSG00000034930 |
| Gene Name |
rhotekin |
| Synonyms |
|
| MMRRC Submission |
040421-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2517 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83112485-83129560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83124526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 110
(I110N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065512]
[ENSMUST00000087938]
[ENSMUST00000121093]
[ENSMUST00000129316]
[ENSMUST00000130622]
[ENSMUST00000135490]
[ENSMUST00000153148]
|
| AlphaFold |
Q8C6B2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065512
AA Change: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930
AA Change: I123N
| 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 damaging
Transcript: ENSMUST00000087938
AA Change: I110N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085249
Gene: ENSMUSG00000034930
AA Change: I110N
| 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 damaging
Transcript: ENSMUST00000121093
AA Change: I110N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112501
Gene: ENSMUSG00000034930
AA Change: I110N
| 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 damaging
Transcript: ENSMUST00000129316
AA Change: I73N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120640
Gene: ENSMUSG00000034930
AA Change: I73N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Hr1
|
1 |
49 |
6e-27 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130622
AA Change: I142N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122660
Gene: ENSMUSG00000034930
AA Change: I142N
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
55 |
118 |
1.97e-12 |
SMART |
|
Pfam:Anillin
|
135 |
217 |
2.8e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133226
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135490
AA Change: I73N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116964
Gene: ENSMUSG00000034930
AA Change: I73N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Hr1
|
1 |
49 |
2e-25 |
BLAST |
|
Pfam:Anillin
|
66 |
221 |
1.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203183
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153148
|
| SMART Domains |
Protein: ENSMUSP00000116608
Gene: ENSMUSG00000030032
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
|
WD40
|
153 |
197 |
5.92e1 |
SMART |
|
WD40
|
201 |
238 |
3.55e1 |
SMART |
|
WD40
|
241 |
280 |
1.79e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
C |
A |
14: 56,019,403 (GRCm39) |
E82D |
probably damaging |
Het |
| Ago1 |
G |
A |
4: 126,333,732 (GRCm39) |
R486* |
probably null |
Het |
| Ago2 |
T |
A |
15: 72,996,091 (GRCm39) |
N346I |
possibly damaging |
Het |
| Apol11a |
A |
T |
15: 77,401,395 (GRCm39) |
D294V |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,116,215 (GRCm39) |
F634L |
possibly damaging |
Het |
| Atp2a2 |
G |
A |
5: 122,595,576 (GRCm39) |
P953L |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,463,137 (GRCm39) |
D967G |
probably benign |
Het |
| Bud13 |
A |
T |
9: 46,199,446 (GRCm39) |
H269L |
probably benign |
Het |
| Cachd1 |
A |
T |
4: 100,838,079 (GRCm39) |
|
probably null |
Het |
| Cog3 |
T |
C |
14: 75,979,182 (GRCm39) |
D188G |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,208,492 (GRCm39) |
S20P |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,658,431 (GRCm39) |
D838G |
unknown |
Het |
| Cwh43 |
A |
T |
5: 73,578,886 (GRCm39) |
T298S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,659,041 (GRCm39) |
R847G |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,407,470 (GRCm39) |
D438N |
probably damaging |
Het |
| Drg2 |
T |
C |
11: 60,358,954 (GRCm39) |
V358A |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,171,168 (GRCm39) |
W220R |
probably damaging |
Het |
| Enpp2 |
A |
T |
15: 54,783,090 (GRCm39) |
I75K |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,238 (GRCm39) |
I400T |
probably damaging |
Het |
| Fam193b |
C |
A |
13: 55,690,629 (GRCm39) |
R711L |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,053,462 (GRCm39) |
Y246H |
probably damaging |
Het |
| Frs3 |
G |
A |
17: 48,013,997 (GRCm39) |
R230Q |
probably benign |
Het |
| Galnt5 |
A |
G |
2: 57,889,425 (GRCm39) |
K342E |
probably benign |
Het |
| Glrb |
A |
T |
3: 80,769,054 (GRCm39) |
L189Q |
probably damaging |
Het |
| Gmeb2 |
T |
C |
2: 180,900,819 (GRCm39) |
T193A |
probably benign |
Het |
| Gnl3 |
A |
G |
14: 30,736,120 (GRCm39) |
S307P |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,800,166 (GRCm39) |
F443I |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Klf10 |
A |
C |
15: 38,297,357 (GRCm39) |
Y228D |
probably benign |
Het |
| Klrc3 |
A |
T |
6: 129,616,520 (GRCm39) |
W166R |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,807,065 (GRCm39) |
I378N |
probably benign |
Het |
| Map3k10 |
T |
C |
7: 27,362,688 (GRCm39) |
K466R |
possibly damaging |
Het |
| Mrrf |
C |
T |
2: 36,079,109 (GRCm39) |
T245M |
probably benign |
Het |
| Msi1 |
A |
G |
5: 115,583,517 (GRCm39) |
Y239C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,525,501 (GRCm39) |
|
probably null |
Het |
| Or1x6 |
T |
A |
11: 50,939,300 (GRCm39) |
L122Q |
probably damaging |
Het |
| Or7g25 |
A |
T |
9: 19,160,357 (GRCm39) |
C113S |
probably benign |
Het |
| P3r3urf |
A |
G |
4: 116,030,791 (GRCm39) |
D65G |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,908,900 (GRCm39) |
E368G |
unknown |
Het |
| Polq |
G |
A |
16: 36,909,687 (GRCm39) |
G2078D |
probably damaging |
Het |
| Ppfibp1 |
A |
C |
6: 146,893,942 (GRCm39) |
I134L |
probably damaging |
Het |
| Rasip1 |
A |
T |
7: 45,284,247 (GRCm39) |
I608F |
probably damaging |
Het |
| Ripk3 |
A |
T |
14: 56,025,492 (GRCm39) |
V24E |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,104,176 (GRCm39) |
V1695I |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,606,042 (GRCm39) |
N75S |
possibly damaging |
Het |
| Snu13 |
C |
A |
15: 81,928,182 (GRCm39) |
A14S |
probably benign |
Het |
| Snx27 |
A |
C |
3: 94,438,541 (GRCm39) |
D231E |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,725,283 (GRCm39) |
I158T |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,696,643 (GRCm39) |
I19T |
possibly damaging |
Het |
| Ssu72 |
T |
C |
4: 155,817,970 (GRCm39) |
L175P |
probably damaging |
Het |
| Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
| Tecr |
C |
T |
8: 84,299,204 (GRCm39) |
V248I |
probably benign |
Het |
| Tnfrsf13b |
T |
G |
11: 61,032,302 (GRCm39) |
S59A |
probably benign |
Het |
| Tom1l1 |
T |
C |
11: 90,561,951 (GRCm39) |
T150A |
possibly damaging |
Het |
| Ubr3 |
A |
T |
2: 69,766,362 (GRCm39) |
Y410F |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,577 (GRCm39) |
I93T |
probably damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
| Vstm4 |
T |
A |
14: 32,585,664 (GRCm39) |
M77K |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,191,896 (GRCm39) |
T309I |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,494 (GRCm39) |
T102A |
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 |
|
|
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 |
|
R4170:Rtkn
|
UTSW |
6 |
83,119,376 (GRCm39) |
start codon destroyed |
probably null |
|
|
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'- TTCCTAAGACCAGAAACCGCTG -3'
(R):5'- CAGTTTGTGATGCTTACCGCC -3'
Sequencing Primer
(F):5'- AACCGCTGAGCCTTGTCCATAG -3'
(R):5'- ACCGCCTTTGTTCTTGAAATAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation