Mutagenetix > Incidental Mutation

Incidental Mutation 'R0218:Mex3b'

33660

Institutional Source

Beutler Lab

Gene Symbol

Mex3b

Ensembl Gene

ENSMUSG00000057706

Gene Name

mex3 RNA binding family member B

Synonyms

Rkhd3, 4931439A04Rik

MMRRC Submission

038467-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R0218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82516541-82520723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82518312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 209 (E209V)

Ref Sequence

ENSEMBL: ENSMUSP00000082168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082237]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000082237
AA Change: E209V

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

SMART Domains

Protein: ENSMUSP00000082168
Gene: ENSMUSG00000057706
AA Change: E209V

Domain	Start	End	E-Value	Type
low complexity region	13	32	N/A	INTRINSIC
low complexity region	35	61	N/A	INTRINSIC
KH	71	139	2.54e-9	SMART
KH	166	233	1.6e-15	SMART
low complexity region	262	270	N/A	INTRINSIC
low complexity region	295	306	N/A	INTRINSIC
low complexity region	309	320	N/A	INTRINSIC
low complexity region	337	346	N/A	INTRINSIC
low complexity region	367	380	N/A	INTRINSIC
low complexity region	389	424	N/A	INTRINSIC
low complexity region	472	486	N/A	INTRINSIC
low complexity region	494	515	N/A	INTRINSIC
RING	525	564	3.24e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209046

Meta Mutation Damage Score

0.5350

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding phosphoprotein that is part of the MEX3 (muscle excess 3) family of translational regulators. The encoded protein contains N-terminal nuclear export and nuclear localization signals and is exported from the cytoplasm to the nucleus. The protein binds to RNA via two KH domains and also colocalizes with MEX3A, Dcp1A decapping factor and Argonaute proteins within P (processing) bodies. [provided by RefSeq, Oct 2012]
PHENOTYPE: Homozygous inactivation of this gene leads to partial neonatal lethality, decreased body weight and subfertility. Males show seminiferous tubule obstruction, oligozoospermia, abnormalities in Sertoli cell barrier morphology and function, and impaired Sertoli cell and macrophage phagocytosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	G	8: 44,079,477 (GRCm39)	Q249P	probably benign	Het
Adgrv1	C	T	13: 81,255,017 (GRCm39)		probably null	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cd200r1	T	A	16: 44,609,106 (GRCm39)		probably benign	Het
Cdkl1	A	T	12: 69,836,809 (GRCm39)	D40E	probably benign	Het
Cdx1	A	G	18: 61,153,436 (GRCm39)		probably benign	Het
Cenpp	T	A	13: 49,801,108 (GRCm39)	K103N	possibly damaging	Het
Cep162	A	G	9: 87,093,862 (GRCm39)	Y839H	possibly damaging	Het
Chac1	T	A	2: 119,183,941 (GRCm39)	L181*	probably null	Het
Ciapin1	G	T	8: 95,554,938 (GRCm39)	Q173K	probably damaging	Het
Cmklr2	T	A	1: 63,222,690 (GRCm39)	N182Y	probably benign	Het
Dgcr2	A	G	16: 17,667,650 (GRCm39)	C270R	probably damaging	Het
Dlc1	A	G	8: 37,317,383 (GRCm39)	S431P	probably benign	Het
Efcab12	T	C	6: 115,791,611 (GRCm39)		probably benign	Het
Ehbp1	A	T	11: 22,181,992 (GRCm39)		probably benign	Het
Enpp3	A	T	10: 24,652,767 (GRCm39)	V730D	possibly damaging	Het
Fam174b	A	G	7: 73,390,512 (GRCm39)	T88A	probably benign	Het
Fancl	A	G	11: 26,421,337 (GRCm39)	K364E	probably benign	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Galc	A	G	12: 98,188,906 (GRCm39)	Y402H	probably damaging	Het
Gga2	T	C	7: 121,598,123 (GRCm39)	N324D	possibly damaging	Het
Hc	G	T	2: 34,918,086 (GRCm39)	F732L	probably damaging	Het
Heca	T	C	10: 17,791,463 (GRCm39)	M198V	probably benign	Het
Herc6	C	A	6: 57,596,586 (GRCm39)	H509N	probably benign	Het
Irf2bpl	A	T	12: 86,929,398 (GRCm39)	M425K	probably benign	Het
Mael	C	T	1: 166,066,159 (GRCm39)	G26D	probably damaging	Het
Map1a	A	G	2: 121,135,906 (GRCm39)	T2241A	probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,701,894 (GRCm39)	S505P	probably damaging	Het
Mdm1	A	G	10: 117,992,783 (GRCm39)		probably benign	Het
Mrgprx3-ps	T	C	7: 46,959,154 (GRCm39)	E279G	possibly damaging	Het
Ms4a20	A	T	19: 11,093,801 (GRCm39)	Y10*	probably null	Het
Nfe2l1	A	T	11: 96,718,439 (GRCm39)	L32Q	probably damaging	Het
Npas1	C	T	7: 16,195,818 (GRCm39)	V285I	probably benign	Het
Or5e1	T	A	7: 108,354,781 (GRCm39)	C239*	probably null	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or9i14	T	C	19: 13,792,342 (GRCm39)	N204S	probably benign	Het
Osr1	A	G	12: 9,629,639 (GRCm39)	T171A	probably benign	Het
Ppp3cb	A	T	14: 20,574,044 (GRCm39)	C265S	probably damaging	Het
Pramel27	A	G	4: 143,578,401 (GRCm39)	I220M	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Simc1	T	C	13: 54,674,417 (GRCm39)	Y922H	probably damaging	Het
Slc25a39	A	G	11: 102,297,056 (GRCm39)	F56L	probably benign	Het
Smg8	A	G	11: 86,976,948 (GRCm39)	L211P	probably damaging	Het
Sncaip	A	G	18: 53,040,400 (GRCm39)	S805G	probably benign	Het
Sra1	T	C	18: 36,809,662 (GRCm39)		probably benign	Het
Tas2r104	T	G	6: 131,662,055 (GRCm39)	D218A	probably damaging	Het
Unc45b	A	G	11: 82,802,686 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,075,040 (GRCm39)		probably null	Het
Washc2	T	A	6: 116,225,007 (GRCm39)	L785*	probably null	Het
Zfp30	A	G	7: 29,493,063 (GRCm39)	E439G	probably damaging	Het
Zfp518a	A	G	19: 40,901,072 (GRCm39)	T334A	probably benign	Het

Other mutations in Mex3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Mex3b	APN	7	82,518,116 (GRCm39)	missense	probably damaging	1.00
IGL01112:Mex3b	APN	7	82,518,911 (GRCm39)	missense	probably benign	0.41
IGL01490:Mex3b	APN	7	82,519,035 (GRCm39)	missense	possibly damaging	0.71
IGL01809:Mex3b	APN	7	82,518,920 (GRCm39)	missense	probably benign
IGL02328:Mex3b	APN	7	82,518,920 (GRCm39)	missense	probably benign
R0653:Mex3b	UTSW	7	82,518,242 (GRCm39)	missense	probably damaging	1.00
R2360:Mex3b	UTSW	7	82,517,070 (GRCm39)	missense	probably benign	0.16
R4184:Mex3b	UTSW	7	82,519,238 (GRCm39)	missense	probably benign	0.00
R4397:Mex3b	UTSW	7	82,519,031 (GRCm39)	missense	possibly damaging	0.88
R4771:Mex3b	UTSW	7	82,518,273 (GRCm39)	missense	possibly damaging	0.81
R4945:Mex3b	UTSW	7	82,519,382 (GRCm39)	missense	probably benign	0.03
R5189:Mex3b	UTSW	7	82,518,459 (GRCm39)	missense	probably damaging	0.96
R6962:Mex3b	UTSW	7	82,518,473 (GRCm39)	missense	probably benign	0.00
R7021:Mex3b	UTSW	7	82,519,080 (GRCm39)	missense	possibly damaging	0.49
R7381:Mex3b	UTSW	7	82,518,073 (GRCm39)	missense	possibly damaging	0.85
R7483:Mex3b	UTSW	7	82,517,114 (GRCm39)	missense	possibly damaging	0.89
R8398:Mex3b	UTSW	7	82,518,842 (GRCm39)	missense	probably benign	0.03
R9288:Mex3b	UTSW	7	82,518,159 (GRCm39)	missense	probably benign	0.02
RF009:Mex3b	UTSW	7	82,516,968 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GATCCGAGCCTCTCGTAACAAGAAC -3'
(R):5'- TCCCACCACCGAAGTAAGAGTCTG -3'

Sequencing Primer
(F):5'- GAACACGGCTCTCAACGG -3'
(R):5'- AAGCGAGCTGGAGCTGTC -3'

Posted On

2013-05-09