Mutagenetix > Incidental Mutation

Incidental Mutation 'R7021:Mex3b'

545626

Institutional Source

Beutler Lab

Gene Symbol

Mex3b

Ensembl Gene

ENSMUSG00000057706

Gene Name

mex3 RNA binding family member B

Synonyms

Rkhd3, 4931439A04Rik

MMRRC Submission

045122-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R7021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82516541-82520723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82519080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 465 (R465L)

Ref Sequence

ENSEMBL: ENSMUSP00000082168 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082237
AA Change: R465L

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000082168
Gene: ENSMUSG00000057706
AA Change: R465L

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

Meta Mutation Damage Score

0.1683

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,442,062 (GRCm39)	L63R	probably damaging	Het
Abcb5	C	T	12: 118,895,660 (GRCm39)	V379I	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ahsa1	T	C	12: 87,318,154 (GRCm39)	S37P	possibly damaging	Het
Arnt2	A	T	7: 83,993,150 (GRCm39)	L130H	probably damaging	Het
Atp8b5	T	A	4: 43,355,618 (GRCm39)	F533I	probably damaging	Het
Best1	A	G	19: 9,964,143 (GRCm39)	V439A	probably benign	Het
Bicc1	A	G	10: 70,796,978 (GRCm39)	V127A	probably damaging	Het
Brd7	T	C	8: 89,073,632 (GRCm39)	T253A	probably benign	Het
Btd	A	G	14: 31,389,788 (GRCm39)	D503G	probably benign	Het
Ccdc80	A	G	16: 44,924,804 (GRCm39)	E646G	probably damaging	Het
Ccl25	A	G	8: 4,399,641 (GRCm39)		probably benign	Het
Ccnf	C	A	17: 24,461,205 (GRCm39)	W150L	probably damaging	Het
Cdk11b	A	T	4: 155,726,024 (GRCm39)		probably benign	Het
Cfap73	T	C	5: 120,768,149 (GRCm39)	E203G	probably benign	Het
Cmya5	T	C	13: 93,230,063 (GRCm39)	E1675G	possibly damaging	Het
Copg1	T	A	6: 87,871,087 (GRCm39)	Y268N	possibly damaging	Het
Csnk2a1	T	A	2: 152,102,732 (GRCm39)	H126Q	probably damaging	Het
Ctbs	G	A	3: 146,160,703 (GRCm39)	G90D	probably damaging	Het
Ctnna2	T	C	6: 77,613,888 (GRCm39)	Y221C	probably damaging	Het
Cypt12	C	T	3: 18,002,635 (GRCm39)	R3C	unknown	Het
D630003M21Rik	A	T	2: 158,058,670 (GRCm39)	M410K	possibly damaging	Het
Dnah9	A	T	11: 65,872,057 (GRCm39)	N2724K	probably benign	Het
Dok3	T	C	13: 55,672,097 (GRCm39)	T194A	probably benign	Het
Edem3	T	G	1: 151,631,423 (GRCm39)	S36A	probably benign	Het
Eed	C	T	7: 89,629,727 (GRCm39)	E3K	possibly damaging	Het
Efcab2	A	G	1: 178,308,925 (GRCm39)	I143V	probably benign	Het
Ensa	A	T	3: 95,534,359 (GRCm39)		probably null	Het
Galnt16	A	T	12: 80,626,826 (GRCm39)	E219V	probably damaging	Het
Gfra3	C	A	18: 34,823,933 (GRCm39)	R347L	probably benign	Het
Gm2042	T	A	12: 87,927,009 (GRCm39)	I442K	probably damaging	Het
Gpld1	A	T	13: 25,168,691 (GRCm39)	D735V	probably damaging	Het
Hspg2	T	C	4: 137,269,580 (GRCm39)	S2253P	possibly damaging	Het
Kit	T	C	5: 75,781,627 (GRCm39)	I352T	probably benign	Het
Klra6	A	T	6: 129,995,821 (GRCm39)	V179E	possibly damaging	Het
Lctl	T	A	9: 64,040,075 (GRCm39)		probably null	Het
Lman1	C	A	18: 66,124,714 (GRCm39)	V342L	probably benign	Het
Lrrn2	T	C	1: 132,866,522 (GRCm39)	L529P	probably damaging	Het
Mab21l2	A	G	3: 86,454,793 (GRCm39)	I69T	probably benign	Het
Mapkapk5	G	T	5: 121,665,274 (GRCm39)	A327E	probably benign	Het
Mgat3	A	G	15: 80,096,655 (GRCm39)	N494S	probably damaging	Het
Mgat4c	A	G	10: 102,224,289 (GRCm39)	R168G	possibly damaging	Het
Mkks	A	G	2: 136,718,007 (GRCm39)		probably null	Het
Muc16	G	T	9: 18,466,215 (GRCm39)	H7368N	unknown	Het
Muc16	T	C	9: 18,462,127 (GRCm39)		probably null	Het
Nbeal1	G	A	1: 60,300,745 (GRCm39)		probably null	Het
Notch2	T	C	3: 98,042,762 (GRCm39)	S1376P	probably benign	Het
Obox5	A	G	7: 15,491,681 (GRCm39)		probably null	Het
Or10j5	T	C	1: 172,784,494 (GRCm39)	I44T	probably benign	Het
Or6c8b	A	T	10: 128,882,899 (GRCm39)	I11N	probably damaging	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pitrm1	T	A	13: 6,628,593 (GRCm39)	V962E	probably damaging	Het
Pkd2l1	T	C	19: 44,142,647 (GRCm39)	Q465R	probably damaging	Het
Pla1a	A	G	16: 38,221,244 (GRCm39)	I372T	probably damaging	Het
Prmt5	A	C	14: 54,752,845 (GRCm39)	F122C	probably damaging	Het
Prrc2b	T	A	2: 32,111,498 (GRCm39)	S1905T	probably damaging	Het
Ptprf	T	G	4: 118,081,101 (GRCm39)	K1163N	probably benign	Het
Rab3ip	A	G	10: 116,775,283 (GRCm39)	V25A	probably damaging	Het
Raf1	T	C	6: 115,597,300 (GRCm39)		probably null	Het
Rnf180	T	C	13: 105,407,429 (GRCm39)	E40G	probably benign	Het
Rpl6	T	A	5: 121,346,972 (GRCm39)	M289K	probably benign	Het
Slc25a32	A	G	15: 38,963,321 (GRCm39)	F167L	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc4a4	T	A	5: 89,188,205 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,769,663 (GRCm39)		probably null	Het
Tbr1	T	A	2: 61,637,688 (GRCm39)	D82E	probably benign	Het
Tbx10	A	T	19: 4,048,961 (GRCm39)	T291S	probably benign	Het
Tlr1	T	A	5: 65,083,056 (GRCm39)	H507L	possibly damaging	Het
Trim37	A	C	11: 87,058,335 (GRCm39)	T338P	probably benign	Het
Trpv5	T	C	6: 41,630,204 (GRCm39)	T629A	probably benign	Het
Ttc14	T	A	3: 33,857,646 (GRCm39)	I249N	probably damaging	Het
Uhrf1	A	G	17: 56,627,450 (GRCm39)	T661A	probably benign	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vwde	T	C	6: 13,186,905 (GRCm39)	N861D	probably damaging	Het
Zan	A	G	5: 137,422,213 (GRCm39)	C2802R	unknown	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
R0218:Mex3b	UTSW	7	82,518,312 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGATCTGCAGCACCAGTATC -3'
(R):5'- TCGAAGCACACAGAGCAGTC -3'

Sequencing Primer
(F):5'- GATCTGCAGCACCAGTATCCTCTTC -3'
(R):5'- AGTCGCGGCTGCCTTTG -3'

Posted On

2019-05-13