Incidental Mutation 'R5044:Rtkn'
| ID |
394255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtkn
|
| Ensembl Gene |
ENSMUSG00000034930 |
| Gene Name |
rhotekin |
| Synonyms |
|
| MMRRC Submission |
042634-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5044 (G1)
|
| Quality Score |
157 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83112485-83129560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83127972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 377
(D377E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065512]
[ENSMUST00000087938]
[ENSMUST00000121093]
[ENSMUST00000125894]
[ENSMUST00000129316]
[ENSMUST00000130622]
[ENSMUST00000153148]
[ENSMUST00000135490]
|
| AlphaFold |
Q8C6B2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000032108
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065512
AA Change: D390E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930
AA Change: D390E
| 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
AA Change: D377E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000085249
Gene: ENSMUSG00000034930
AA Change: D377E
| 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
AA Change: D377E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000112501
Gene: ENSMUSG00000034930
AA Change: D377E
| 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: ENSMUST00000125894
|
| SMART Domains |
Protein: ENSMUSP00000122873
Gene: ENSMUSG00000030032
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
22 |
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 benign
Transcript: ENSMUST00000130622
|
| SMART Domains |
Protein: ENSMUSP00000122660
Gene: ENSMUSG00000034930
| 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 |
noncoding transcript
Transcript: ENSMUST00000146969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154625
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0590 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
96% (73/76) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,323 (GRCm39) |
F3387I |
possibly damaging |
Het |
| Acacb |
T |
A |
5: 114,304,088 (GRCm39) |
S170R |
probably benign |
Het |
| Adamtsl4 |
A |
G |
3: 95,588,960 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
G |
13: 81,637,050 (GRCm39) |
C3464R |
probably benign |
Het |
| Apbb1 |
A |
T |
7: 105,214,889 (GRCm39) |
|
probably benign |
Het |
| Cad |
A |
G |
5: 31,212,365 (GRCm39) |
T23A |
probably benign |
Het |
| Cdca7 |
A |
G |
2: 72,313,759 (GRCm39) |
R183G |
probably benign |
Het |
| Cdpf1 |
T |
C |
15: 85,693,513 (GRCm39) |
T5A |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,883,490 (GRCm39) |
D133G |
probably damaging |
Het |
| Chrna9 |
T |
C |
5: 66,128,359 (GRCm39) |
L189P |
probably damaging |
Het |
| Clca3a1 |
A |
C |
3: 144,713,689 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
G |
T |
15: 92,140,876 (GRCm39) |
V201F |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,644,267 (GRCm39) |
E352G |
unknown |
Het |
| Ddhd2 |
T |
C |
8: 26,242,164 (GRCm39) |
Y237C |
probably damaging |
Het |
| Dnah6 |
A |
C |
6: 73,014,605 (GRCm39) |
F3609V |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,422,650 (GRCm39) |
K580R |
possibly damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,560 (GRCm39) |
N878S |
probably benign |
Het |
| Fbn1 |
T |
G |
2: 125,171,022 (GRCm39) |
T1938P |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,969 (GRCm39) |
V234A |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,761,660 (GRCm39) |
N351D |
probably benign |
Het |
| Glt1d1 |
A |
T |
5: 127,721,478 (GRCm39) |
N55I |
probably benign |
Het |
| Gm17641 |
C |
A |
3: 68,776,807 (GRCm39) |
|
probably benign |
Het |
| Gm7665 |
A |
G |
18: 16,407,788 (GRCm39) |
|
noncoding transcript |
Het |
| Hgf |
A |
C |
5: 16,819,892 (GRCm39) |
N541T |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,795,814 (GRCm39) |
P152S |
probably benign |
Het |
| Jarid2 |
C |
T |
13: 45,060,041 (GRCm39) |
L720F |
probably damaging |
Het |
| Kifc5b |
A |
G |
17: 27,143,761 (GRCm39) |
E511G |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,646,538 (GRCm39) |
A235T |
probably benign |
Het |
| Lmln |
A |
G |
16: 32,894,550 (GRCm39) |
D231G |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,403,364 (GRCm39) |
C2070R |
probably damaging |
Het |
| Mbl1 |
A |
G |
14: 40,880,681 (GRCm39) |
T190A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,299,934 (GRCm39) |
S355T |
probably benign |
Het |
| Muc19 |
C |
T |
15: 91,772,332 (GRCm39) |
|
noncoding transcript |
Het |
| Mycbp2 |
A |
C |
14: 103,376,671 (GRCm39) |
|
probably null |
Het |
| Naa20 |
T |
C |
2: 145,757,762 (GRCm39) |
S164P |
probably damaging |
Het |
| Nme4 |
A |
T |
17: 26,312,807 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
A |
T |
1: 39,386,587 (GRCm39) |
R619* |
probably null |
Het |
| Nudt19 |
G |
A |
7: 35,255,171 (GRCm39) |
T20I |
possibly damaging |
Het |
| Or4c119 |
T |
A |
2: 88,987,283 (GRCm39) |
K79* |
probably null |
Het |
| Or5b97 |
A |
G |
19: 12,878,365 (GRCm39) |
Y260H |
probably damaging |
Het |
| Pitpnc1 |
A |
G |
11: 107,187,054 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Rcor2 |
A |
G |
19: 7,247,150 (GRCm39) |
T6A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,999,940 (GRCm39) |
S1131R |
probably damaging |
Het |
| Rtn4rl2 |
T |
A |
2: 84,702,846 (GRCm39) |
N242I |
probably damaging |
Het |
| Sbno2 |
G |
A |
10: 79,898,022 (GRCm39) |
L719F |
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,648,897 (GRCm39) |
D55E |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,289,929 (GRCm39) |
I632N |
unknown |
Het |
| Spaca6 |
A |
G |
17: 18,051,458 (GRCm39) |
T45A |
probably benign |
Het |
| Srpk2 |
A |
T |
5: 23,729,390 (GRCm39) |
D416E |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,443,889 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
A |
T |
3: 102,752,370 (GRCm39) |
I804N |
probably benign |
Het |
| Tdp2 |
G |
A |
13: 25,015,809 (GRCm39) |
R32Q |
probably benign |
Het |
| Tgfbr3 |
A |
G |
5: 107,284,795 (GRCm39) |
V618A |
possibly damaging |
Het |
| Tmc3 |
C |
T |
7: 83,258,326 (GRCm39) |
P439S |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,936,457 (GRCm39) |
D2740V |
probably damaging |
Het |
| Tspyl4 |
A |
G |
10: 34,173,933 (GRCm39) |
T142A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,710,785 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
T |
C |
2: 121,004,061 (GRCm39) |
L34P |
probably damaging |
Het |
| Tubgcp6 |
G |
T |
15: 88,983,748 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,078,962 (GRCm39) |
V1690E |
probably benign |
Het |
| Vps4b |
T |
C |
1: 106,724,148 (GRCm39) |
|
probably null |
Het |
| Wtap |
A |
G |
17: 13,186,525 (GRCm39) |
S341P |
possibly damaging |
Het |
| Wwc1 |
T |
C |
11: 35,774,172 (GRCm39) |
T363A |
probably benign |
Het |
| Zbtb8a |
G |
A |
4: 129,254,293 (GRCm39) |
T67M |
probably damaging |
Het |
| Zfp865 |
T |
C |
7: 5,037,668 (GRCm39) |
|
probably benign |
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 |
|
R4170:Rtkn
|
UTSW |
6 |
83,119,376 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4630:Rtkn
|
UTSW |
6 |
83,129,163 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGCGGAAGTCCCAAAGGTAC -3'
(R):5'- GATCTTCATGACTTCATCACAACAGTG -3'
Sequencing Primer
(F):5'- AGGTACTGCTAGGCCAGTCTAG -3'
(R):5'- GAGGACCAGACCCATGCAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation