Mutagenetix > Incidental Mutation

Incidental Mutation 'R4184:Mex3b'

319865

Institutional Source

Beutler Lab

Gene Symbol

Mex3b

Ensembl Gene

ENSMUSG00000057706

Gene Name

mex3 RNA binding family member B

Synonyms

Rkhd3, 4931439A04Rik

MMRRC Submission

041020-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R4184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82516541-82520723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82519238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 518 (R518G)

Ref Sequence

ENSEMBL: ENSMUSP00000082168 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082237
AA Change: R518G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082168
Gene: ENSMUSG00000057706
AA Change: R518G

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (55/58)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	T	7: 143,447,858 (GRCm39)	K234*	probably null	Het
Ccdc178	A	G	18: 22,157,841 (GRCm39)	L539P	probably damaging	Het
Cd5	T	A	19: 10,698,638 (GRCm39)	N423I	probably damaging	Het
Ceacam20	C	T	7: 19,710,041 (GRCm39)	T355I	probably damaging	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Cln8	T	C	8: 14,945,030 (GRCm39)	F115L	probably benign	Het
Cpne9	T	A	6: 113,259,418 (GRCm39)		probably benign	Het
Cyp4a32	C	T	4: 115,478,720 (GRCm39)	T484I	possibly damaging	Het
Des	C	G	1: 75,339,228 (GRCm39)	A251G	probably benign	Het
Dnah3	T	C	7: 119,682,516 (GRCm39)	D270G	probably damaging	Het
Epc1	T	C	18: 6,453,578 (GRCm39)	E249G	possibly damaging	Het
Fsbp	T	A	4: 11,584,058 (GRCm39)	N252K	probably benign	Het
Gramd1a	C	A	7: 30,831,940 (GRCm39)		probably benign	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Igsf10	C	T	3: 59,227,152 (GRCm39)	V2174M	probably damaging	Het
Kcnu1	T	C	8: 26,352,445 (GRCm39)	L204P	probably damaging	Het
Kdm7a	T	C	6: 39,125,911 (GRCm39)	E628G	probably benign	Het
Klhl36	T	C	8: 120,601,124 (GRCm39)	M381T	probably damaging	Het
Kpna3	A	T	14: 61,605,624 (GRCm39)	Y474N	probably damaging	Het
Lsm8	G	T	6: 18,849,604 (GRCm39)		probably benign	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Mbd2	T	A	18: 70,751,050 (GRCm39)	C362S	probably damaging	Het
Mical1	T	C	10: 41,357,866 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,748,613 (GRCm39)	S1996P	probably damaging	Het
Or11g7	A	G	14: 50,690,827 (GRCm39)	Y106C	probably damaging	Het
Or11h4b	C	G	14: 50,918,507 (GRCm39)	E195Q	probably benign	Het
Or1o2	T	G	17: 37,542,739 (GRCm39)	H174P	possibly damaging	Het
Otop2	T	A	11: 115,220,671 (GRCm39)	C504S	probably benign	Het
Pkhd1	T	A	1: 20,279,501 (GRCm39)	H2939L	probably benign	Het
Pkhd1	C	T	1: 20,633,910 (GRCm39)	V542M	probably benign	Het
Pkhd1l1	C	T	15: 44,455,302 (GRCm39)	T4021I	probably benign	Het
Prr36	T	C	8: 4,263,409 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pth1r	A	G	9: 110,571,300 (GRCm39)	M1T	probably null	Het
Rdx	C	A	9: 51,978,680 (GRCm39)	L163M	probably damaging	Het
Reep6	A	G	10: 80,169,648 (GRCm39)	Y112C	probably damaging	Het
Rpp21	A	G	17: 36,568,611 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,451,393 (GRCm39)	C4480S	probably damaging	Het
Slc15a1	G	A	14: 121,703,574 (GRCm39)	T512I	probably benign	Het
Slc22a22	A	T	15: 57,119,962 (GRCm39)	C170*	probably null	Het
Slc26a2	C	T	18: 61,331,904 (GRCm39)	R509K	probably benign	Het
Slc4a10	A	G	2: 62,147,786 (GRCm39)		probably benign	Het
Stc1	A	T	14: 69,266,834 (GRCm39)		probably benign	Het
Tbc1d32	T	A	10: 56,100,676 (GRCm39)	T101S	probably benign	Het
Tsc2	T	C	17: 24,850,990 (GRCm39)	T23A	probably benign	Het
Vmn1r52	T	G	6: 90,156,219 (GRCm39)	F174L	probably benign	Het
Zfp972	G	A	2: 177,563,250 (GRCm39)	Q56*	probably null	Het
Zfp982	A	G	4: 147,597,150 (GRCm39)	K169R	probably benign	Het
Zfpl1	A	G	19: 6,131,170 (GRCm39)	L274P	probably damaging	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
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'- ACCCTCCAATGCCAATCTGG -3'
(R):5'- AAATGCGGATGGCCTGAGTG -3'

Sequencing Primer
(F):5'- TCCGCCCTTGCACATGG -3'
(R):5'- TGAGTGACCGCCGTGTG -3'

Posted On

2015-06-10