Mutagenetix > Incidental Mutations

Incidental Mutation 'R8983:Rdx'

683829

Institutional Source

Beutler Lab

Gene Symbol

Rdx

Ensembl Gene

ENSMUSG00000032050

Gene Name

radixin

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52047173-52088735 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52063605 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 14 (A14T)

Ref Sequence

ENSEMBL: ENSMUSP00000000590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000590] [ENSMUST00000061352] [ENSMUST00000163153]

AlphaFold

P26043

Predicted Effect

probably damaging
Transcript: ENSMUST00000000590
AA Change: A14T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000590
Gene: ENSMUSG00000032050
AA Change: A14T

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: A14T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055303
Gene: ENSMUSG00000032050
AA Change: A14T

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: A14T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128249
Gene: ENSMUSG00000032050
AA Change: A14T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	G	6: 40,921,000	S250P	possibly damaging	Het
4921509C19Rik	A	T	2: 151,471,352	F632I	unknown	Het
4930430A15Rik	A	G	2: 111,200,356	S403P	probably benign	Het
5730522E02Rik	T	C	11: 25,769,069	T26A	unknown	Het
Ablim1	A	T	19: 57,239,212	V7E	probably benign	Het
Adcy5	T	G	16: 35,156,862	L255R	possibly damaging	Het
Ahnak	C	A	19: 9,004,113	N920K	possibly damaging	Het
Arhgef11	A	G	3: 87,733,201	K1251E		Het
Astn1	T	A	1: 158,664,130		probably null	Het
Atxn2	A	G	5: 121,778,000	Y423C	probably damaging	Het
Ccdc180	T	A	4: 45,909,359	V509D	possibly damaging	Het
Ccdc80	T	C	16: 45,104,417	V638A	possibly damaging	Het
Ccr6	T	G	17: 8,256,046	C28G	probably damaging	Het
Cdca7l	A	G	12: 117,865,167		probably benign	Het
Cnot3	T	C	7: 3,651,329	I52T	probably damaging	Het
Cped1	A	T	6: 22,138,687	N555I	probably benign	Het
Cpne6	A	T	14: 55,516,254	I390F	probably damaging	Het
Dlec1	A	G	9: 119,128,351	D836G	probably benign	Het
Dnah8	T	A	17: 30,851,654	V4438D	probably damaging	Het
Dok3	G	T	13: 55,523,722	N345K	probably damaging	Het
Eea1	C	T	10: 96,019,879	Q593*	probably null	Het
Eif3m	T	C	2: 104,999,794	Y351C	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Epn3	T	C	11: 94,496,088	E152G	probably damaging	Het
Faf2	A	G	13: 54,621,913	S25G	probably benign	Het
Fam83b	A	G	9: 76,493,075	S249P	probably damaging	Het
Fgl1	A	T	8: 41,200,459	S132R	probably benign	Het
Frem3	A	G	8: 80,669,246	E1890G	probably damaging	Het
Gm960	T	C	19: 4,645,686	I513V	possibly damaging	Het
Gpc5	T	A	14: 115,092,686	S94T	unknown	Het
Hectd1	A	G	12: 51,744,627	V2584A	probably damaging	Het
Kifc3	G	A	8: 95,106,476	A498V	probably damaging	Het
Klra6	T	C	6: 130,022,610	T132A	probably benign	Het
Lor	T	C	3: 92,081,139	Y280C	unknown	Het
Lpin2	C	T	17: 71,246,967	A931V	unknown	Het
Lpxn	A	G	19: 12,833,158	H322R	probably damaging	Het
Megf9	A	G	4: 70,435,397	S391P	probably benign	Het
Mipep	G	A	14: 60,843,253	V565I	probably benign	Het
Mmrn1	C	T	6: 60,976,058	T441I	probably benign	Het
Mpp5	G	A	12: 78,837,524	D640N	probably damaging	Het
Mrpl48	T	C	7: 100,574,495	N14S	probably benign	Het
Ncald	A	G	15: 37,397,268	F56S	probably damaging	Het
Olfr1012	T	C	2: 85,753,907		probably benign	Het
Plcd3	A	G	11: 103,071,266	V703A	possibly damaging	Het
Qser1	T	C	2: 104,787,357	I947V	probably benign	Het
Rnf213	A	G	11: 119,430,349	D1211G		Het
Sbpl	T	C	17: 23,953,279	D222G	unknown	Het
Scn8a	C	A	15: 101,002,149	T703K	possibly damaging	Het
Setbp1	A	G	18: 78,859,244	S403P	probably benign	Het
Sfmbt2	A	G	2: 10,404,456	S71G	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,036		probably benign	Het
Smco3	C	T	6: 136,831,732	G48D	possibly damaging	Het
Spag9	T	C	11: 94,067,989	S280P	probably benign	Het
Thada	T	C	17: 84,231,087	T1498A	probably benign	Het
Tmprss7	T	C	16: 45,660,900	D641G	probably damaging	Het
Trim43a	A	G	9: 88,582,351	D105G	probably benign	Het
Utp14b	T	A	1: 78,665,286	N300K	probably benign	Het
Vmn2r83	T	G	10: 79,491,526	I656S	probably damaging	Het
Zfp646	A	T	7: 127,881,605	M985L	probably benign	Het
Zfp777	A	T	6: 48,029,224	L412Q	probably damaging	Het

Other mutations in Rdx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Rdx	APN	9	52086346	missense	probably damaging	1.00
IGL02088:Rdx	APN	9	52060883	utr 5 prime	probably benign
IGL02522:Rdx	APN	9	52068204	missense	possibly damaging	0.92
R0731:Rdx	UTSW	9	52068218	missense	probably benign	0.05
R0748:Rdx	UTSW	9	52064860	missense	possibly damaging	0.87
R0831:Rdx	UTSW	9	52065817	missense	probably damaging	1.00
R1605:Rdx	UTSW	9	52063591	missense	probably damaging	1.00
R1688:Rdx	UTSW	9	52060911	splice site	probably benign
R2127:Rdx	UTSW	9	52069732	missense	possibly damaging	0.49
R2363:Rdx	UTSW	9	52068873	missense	probably damaging	1.00
R2899:Rdx	UTSW	9	52068911	splice site	probably benign
R4184:Rdx	UTSW	9	52067380	missense	probably damaging	1.00
R4569:Rdx	UTSW	9	52068841	missense	probably benign	0.07
R4607:Rdx	UTSW	9	52068837	missense	probably damaging	0.99
R4760:Rdx	UTSW	9	52065874	missense	probably benign	0.02
R4820:Rdx	UTSW	9	52063591	missense	probably damaging	1.00
R4966:Rdx	UTSW	9	52075009	missense	probably benign	0.00
R6707:Rdx	UTSW	9	52063654	missense	probably damaging	1.00
R7136:Rdx	UTSW	9	52086445	missense	probably damaging	1.00
R7308:Rdx	UTSW	9	52068870	missense	probably damaging	0.98
R7597:Rdx	UTSW	9	52060896	missense	possibly damaging	0.84
R7835:Rdx	UTSW	9	52065788	missense	probably damaging	0.98
R7923:Rdx	UTSW	9	52065901	missense	possibly damaging	0.93
R8055:Rdx	UTSW	9	52086424	missense	probably damaging	1.00
R8057:Rdx	UTSW	9	52065646	missense	probably damaging	1.00
R8889:Rdx	UTSW	9	52086453	missense	probably damaging	1.00
R9128:Rdx	UTSW	9	52064879	nonsense	probably null
R9226:Rdx	UTSW	9	52081168	missense	probably benign	0.01
R9377:Rdx	UTSW	9	52068868	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GGAACATTGCAATAGGCCAAGC -3'
(R):5'- TGGCCTTAGCATGTTCACCC -3'

Sequencing Primer
(F):5'- TCCCATGGGAAGACTAGCTC -3'
(R):5'- TTAGCATGTTCACCCCACCAAC -3'

Posted On

2021-10-11