Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Rdx'

356815

Institutional Source

Beutler Lab

Gene Symbol

Rdx

Ensembl Gene

ENSMUSG00000032050

Gene Name

radixin

Synonyms

MMRRC Submission

041974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52047173-52088735 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52065874 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 141 (I141T)

Ref Sequence

ENSEMBL: ENSMUSP00000055303 (fasta)

Gene Model

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

AlphaFold

P26043

Predicted Effect

probably benign
Transcript: ENSMUST00000000590
AA Change: I141T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000590
Gene: ENSMUSG00000032050
AA Change: I141T

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 benign
Transcript: ENSMUST00000061352
AA Change: I141T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000055303
Gene: ENSMUSG00000032050
AA Change: I141T

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 benign
Transcript: ENSMUST00000163153
AA Change: I141T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128249
Gene: ENSMUSG00000032050
AA Change: I141T

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

0.0590

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,721,305	M723K	probably benign	Het
A530053G22Rik	A	G	6: 60,402,101		noncoding transcript	Het
Abcc2	A	T	19: 43,810,481	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,571,463	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,563,523	Y332C	probably damaging	Het
Ambn	C	T	5: 88,467,707	L317F	probably damaging	Het
Amn1	T	C	6: 149,185,113	Y17C	probably benign	Het
Apoa5	T	C	9: 46,270,295	V223A	probably damaging	Het
BC048403	T	C	10: 121,740,007	V11A	probably damaging	Het
Best3	A	T	10: 117,024,794	H653L	probably benign	Het
Btnl2	C	A	17: 34,363,195	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,362,056	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,705,635	D698V	probably damaging	Het
Cd33	T	C	7: 43,529,495	T307A	probably benign	Het
Cdk8	C	T	5: 146,292,666	S230L	probably benign	Het
Cfap69	C	T	5: 5,646,939	C119Y	probably damaging	Het
Chat	T	C	14: 32,453,737	N122S	probably benign	Het
Col20a1	A	T	2: 180,984,403		probably benign	Het
Cyp2j9	A	T	4: 96,568,791	L481Q	probably damaging	Het
Dab1	A	C	4: 104,732,145	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,773,380	Q533P	probably damaging	Het
Eif4g3	A	T	4: 138,084,318	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,719,043	V438M	probably damaging	Het
Eva1c	G	A	16: 90,904,250	D258N	probably benign	Het
Fastkd2	A	G	1: 63,745,886	H477R	probably benign	Het
Fga	T	G	3: 83,031,514	S399A	probably benign	Het
Fmo4	T	A	1: 162,809,827	E32V	probably damaging	Het
Gm13083	G	A	4: 143,617,231	R367K	probably benign	Het
Gm1840	G	A	8: 5,640,473		noncoding transcript	Het
Gm7204	T	A	16: 48,218,688		noncoding transcript	Het
Hhipl1	A	G	12: 108,320,077	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,637,190	T63A	probably benign	Het
Igf2r	A	G	17: 12,703,465	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 115,024,047	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,791,462	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Ipo5	T	C	14: 120,941,642	V779A	probably benign	Het
Itpr1	C	T	6: 108,349,632	T105I	probably benign	Het
Kalrn	T	C	16: 34,198,487	M670V	probably damaging	Het
Kdm8	T	A	7: 125,455,259		probably null	Het
L3hypdh	T	C	12: 72,077,242	I281V	probably benign	Het
Lins1	T	G	7: 66,714,687		probably benign	Het
Map4k5	T	A	12: 69,824,598	I517L	possibly damaging	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mlkl	C	G	8: 111,319,716		probably null	Het
Mllt1	A	G	17: 56,902,630	M160T	probably benign	Het
Mmp15	G	A	8: 95,368,196	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,891,603	T23N	probably benign	Het
Nop53	C	A	7: 15,942,887	K100N	probably benign	Het
Nrg1	C	A	8: 31,918,200	E2*	probably null	Het
Olfr654	T	A	7: 104,588,489	H228Q	probably benign	Het
Pank4	A	G	4: 154,974,634	D408G	possibly damaging	Het
Pcdhb10	T	C	18: 37,411,942	W24R	probably benign	Het
Pcm1	C	T	8: 41,287,738	T968I	probably damaging	Het
Pkib	G	T	10: 57,708,150	M19I	probably benign	Het
Ppy	A	G	11: 102,100,519		probably null	Het
Prdx3	A	C	19: 60,873,183	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,221,924	N106H	probably benign	Het
Rai14	G	A	15: 10,575,690	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,346,749	L1371Q	probably benign	Het
Rbm12	A	G	2: 156,097,128	L408P	probably damaging	Het
Reep1	T	A	6: 71,708,001	V11E	possibly damaging	Het
Sall4	A	G	2: 168,750,427	S936P	probably damaging	Het
Serac1	A	G	17: 6,051,790	M403T	possibly damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,553,496	I41L	probably benign	Het
Slc39a12	G	A	2: 14,400,323	S242N	probably benign	Het
Slc9a2	T	A	1: 40,761,916	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,701,645	P890T	probably damaging	Het
Sync	A	G	4: 129,293,439	Q88R	probably benign	Het
Tdrp	A	G	8: 13,974,527		probably benign	Het
Tg	G	T	15: 66,693,319	C1170F	probably damaging	Het
Tnks	A	T	8: 34,851,783	D781E	probably benign	Het
Tnp2	T	A	16: 10,788,343	T87S	possibly damaging	Het
Tpp2	T	C	1: 43,971,715	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,645,739	I431T	probably damaging	Het
Trav9d-4	A	T	14: 52,983,801	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,184,277	Y782F	probably damaging	Het
Vwf	T	C	6: 125,570,604	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,081,867	S83G	probably damaging	Het
Wdr91	T	A	6: 34,908,299	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,511,864	C148R	possibly 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
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
R8983:Rdx	UTSW	9	52063605	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
R9469:Rdx	UTSW	9	52065769	missense	probably damaging	1.00
R9534:Rdx	UTSW	9	52073182	nonsense	probably null
R9746:Rdx	UTSW	9	52063578	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTATTCTAGGTAACACAGCAAGATG -3'
(R):5'- TAGAGCGGAGTTACACAACAC -3'

Sequencing Primer
(F):5'- ATCCTTTACAGTTCAAGTTTAGAGC -3'
(R):5'- GCGGAGTTACACAACACATAAATCTG -3'

Posted On

2015-11-11