Incidental Mutation 'R6707:Rdx'
| ID |
528981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rdx
|
| Ensembl Gene |
ENSMUSG00000032050 |
| Gene Name |
radixin |
| Synonyms |
|
| MMRRC Submission |
044825-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6707 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
51958450-52000038 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51974954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 30
(F30S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000590]
[ENSMUST00000061352]
[ENSMUST00000163153]
|
| AlphaFold |
P26043 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE RADIXIN FERM DOMAIN COMPLEXED WITH INOSITOL-(1,4,5)-TRIPHOSPHATE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE RADIXIN FERM DOMAIN [X-RAY DIFFRACTION]
Crystal structure of the radxin FERM domain complexed with the ICAM-2 cytoplasmic peptide [X-RAY DIFFRACTION]
Crystal structure of the Radixin FERM domain complexed with the NHERF-1 C-terminal tail peptide [X-RAY DIFFRACTION]
Crystal structure of the Radixin FERM domain complexed with the NHERF-2 C-terminal tail peptide [X-RAY DIFFRACTION]
Crystal structure of the dimerized radixin FERM domain [X-RAY DIFFRACTION]
Crystal Structure Analysis of the radixin FERM domain complexed with adhesion molecule CD43 [X-RAY DIFFRACTION]
Crystal Structure Analysis of the radixin FERM domain complexed with adhesion molecule PSGL-1 [X-RAY DIFFRACTION]
Crystal structure of the Radixin FERM domain complexed with the NEP cytoplasmic tail [X-RAY DIFFRACTION]
Crystal structure of the mouse radxin FERM domain complexed with the mouse CD44 cytoplasmic peptide [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000590
AA Change: F30S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000590
Gene: ENSMUSG00000032050
AA Change: F30S
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
206 |
4.99e-82 |
SMART |
|
FERM_C
|
210 |
299 |
1.43e-35 |
SMART |
|
Pfam:ERM
|
338 |
583 |
6e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061352
AA Change: F30S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055303
Gene: ENSMUSG00000032050
AA Change: F30S
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
206 |
4.99e-82 |
SMART |
|
FERM_C
|
210 |
299 |
1.43e-35 |
SMART |
|
coiled coil region
|
300 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163153
AA Change: F30S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128249
Gene: ENSMUSG00000032050
AA Change: F30S
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
206 |
4.99e-82 |
SMART |
|
FERM_C
|
210 |
299 |
1.43e-35 |
SMART |
|
Pfam:ERM
|
338 |
583 |
3.4e-78 |
PFAM |
|
| Meta Mutation Damage Score |
0.9673 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted mutation display mild degenerative changes in the liver and hyperbilirubinemia. Adult homozygotes exhibit profound deafness, but not imbalance, associated with progressive degeneration of stereocilia of cochlear hair cells after the onset of hearing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
C |
10: 106,920,783 (GRCm39) |
Y109C |
probably damaging |
Het |
| Actg2 |
C |
T |
6: 83,490,076 (GRCm39) |
W341* |
probably null |
Het |
| Adam29 |
C |
T |
8: 56,325,135 (GRCm39) |
G440R |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,496,903 (GRCm39) |
D1153G |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,211,624 (GRCm39) |
T120A |
possibly damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,073,224 (GRCm39) |
Q1371K |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,222 (GRCm39) |
D122E |
probably benign |
Het |
| Boc |
A |
T |
16: 44,320,979 (GRCm39) |
I227N |
possibly damaging |
Het |
| Clca3b |
T |
A |
3: 144,550,288 (GRCm39) |
Q219L |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,252,606 (GRCm39) |
V1943M |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,174,944 (GRCm39) |
F448Y |
probably damaging |
Het |
| Ddx5 |
A |
G |
11: 106,673,058 (GRCm39) |
M489T |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
| Ecpas |
T |
A |
4: 58,879,101 (GRCm39) |
I63L |
possibly damaging |
Het |
| Eqtn |
T |
C |
4: 94,796,056 (GRCm39) |
D215G |
probably benign |
Het |
| Evi5l |
A |
T |
8: 4,256,322 (GRCm39) |
T706S |
probably benign |
Het |
| Gtf2f1 |
T |
C |
17: 57,314,770 (GRCm39) |
E90G |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,244,682 (GRCm39) |
S168T |
probably benign |
Het |
| Ipo4 |
C |
A |
14: 55,866,361 (GRCm39) |
V773L |
possibly damaging |
Het |
| Ireb2 |
C |
T |
9: 54,811,245 (GRCm39) |
T716I |
probably damaging |
Het |
| Klhl21 |
A |
G |
4: 152,096,784 (GRCm39) |
D350G |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,241,086 (GRCm39) |
N821I |
probably damaging |
Het |
| Nipbl |
G |
T |
15: 8,354,043 (GRCm39) |
T1698K |
probably benign |
Het |
| Nod2 |
A |
G |
8: 89,391,817 (GRCm39) |
H686R |
probably benign |
Het |
| Ntf3 |
A |
G |
6: 126,141,691 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
G |
T |
10: 129,637,689 (GRCm39) |
A235D |
probably damaging |
Het |
| Or6c69 |
T |
C |
10: 129,747,608 (GRCm39) |
T180A |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,768,303 (GRCm39) |
H161L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,392,539 (GRCm39) |
N1625D |
probably benign |
Het |
| Smo |
T |
A |
6: 29,736,173 (GRCm39) |
V55E |
probably benign |
Het |
| Sox9 |
C |
A |
11: 112,673,698 (GRCm39) |
N96K |
probably damaging |
Het |
| Spp2 |
T |
G |
1: 88,345,016 (GRCm39) |
|
probably null |
Het |
| Tex46 |
A |
G |
4: 136,340,161 (GRCm39) |
N82S |
probably benign |
Het |
| Timm22 |
C |
T |
11: 76,298,151 (GRCm39) |
L41F |
possibly damaging |
Het |
| Tmem30a |
A |
T |
9: 79,681,547 (GRCm39) |
Y207* |
probably null |
Het |
| Tmem70 |
T |
C |
1: 16,747,531 (GRCm39) |
V216A |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,040,302 (GRCm39) |
N151S |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,948,364 (GRCm39) |
C537R |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,545,583 (GRCm39) |
Y339C |
probably damaging |
Het |
| Zp2 |
C |
T |
7: 119,733,145 (GRCm39) |
G599R |
possibly damaging |
Het |
|
| Other mutations in Rdx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Rdx
|
APN |
9 |
51,997,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02088:Rdx
|
APN |
9 |
51,972,183 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02522:Rdx
|
APN |
9 |
51,979,504 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0731:Rdx
|
UTSW |
9 |
51,979,518 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0748:Rdx
|
UTSW |
9 |
51,976,160 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0831:Rdx
|
UTSW |
9 |
51,977,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Rdx
|
UTSW |
9 |
51,974,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1688:Rdx
|
UTSW |
9 |
51,972,211 (GRCm39) |
splice site |
probably benign |
|
|
R2127:Rdx
|
UTSW |
9 |
51,981,032 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2363:Rdx
|
UTSW |
9 |
51,980,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2899:Rdx
|
UTSW |
9 |
51,980,211 (GRCm39) |
splice site |
probably benign |
|
|
R4184:Rdx
|
UTSW |
9 |
51,978,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Rdx
|
UTSW |
9 |
51,980,141 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4607:Rdx
|
UTSW |
9 |
51,980,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4760:Rdx
|
UTSW |
9 |
51,977,174 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4820:Rdx
|
UTSW |
9 |
51,974,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Rdx
|
UTSW |
9 |
51,986,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7136:Rdx
|
UTSW |
9 |
51,997,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7308:Rdx
|
UTSW |
9 |
51,980,170 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7597:Rdx
|
UTSW |
9 |
51,972,196 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7835:Rdx
|
UTSW |
9 |
51,977,088 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7923:Rdx
|
UTSW |
9 |
51,977,201 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8055:Rdx
|
UTSW |
9 |
51,997,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Rdx
|
UTSW |
9 |
51,976,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Rdx
|
UTSW |
9 |
51,997,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Rdx
|
UTSW |
9 |
51,974,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9128:Rdx
|
UTSW |
9 |
51,976,179 (GRCm39) |
nonsense |
probably null |
|
|
R9226:Rdx
|
UTSW |
9 |
51,992,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9377:Rdx
|
UTSW |
9 |
51,980,168 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9469:Rdx
|
UTSW |
9 |
51,977,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Rdx
|
UTSW |
9 |
51,984,482 (GRCm39) |
nonsense |
probably null |
|
|
R9746:Rdx
|
UTSW |
9 |
51,974,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCATGGGAAGACTAGCTC -3'
(R):5'- GCACATGATGGTATCAGAGTTAC -3'
Sequencing Primer
(F):5'- TAGATGCACAAAGCCCTGG -3'
(R):5'- CAGTGCTTGCTGCTAACATACGAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation