Mutagenetix > Incidental Mutation

Incidental Mutation 'R0653:Mex3b'

62378

Institutional Source

Beutler Lab

Gene Symbol

Mex3b

Ensembl Gene

ENSMUSG00000057706

Gene Name

mex3 RNA binding family member B

Synonyms

Rkhd3, 4931439A04Rik

MMRRC Submission

038838-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R0653 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

82516541-82520723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82518242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 186 (K186E)

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: K186E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082168
Gene: ENSMUSG00000057706
AA Change: K186E

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,066,371 (GRCm39)	R612*	probably null	Het
Adgra1	A	G	7: 139,456,063 (GRCm39)	T564A	probably damaging	Het
Akr1c18	A	T	13: 4,195,307 (GRCm39)	D50E	probably damaging	Het
Atg9a	C	A	1: 75,166,972 (GRCm39)	L26F	probably damaging	Het
Atp11b	A	G	3: 35,893,343 (GRCm39)	T899A	probably damaging	Het
Atxn2	A	G	5: 121,910,841 (GRCm39)	E358G	probably damaging	Het
Bmp3	A	G	5: 99,019,970 (GRCm39)	Y131C	probably damaging	Het
Brip1	T	C	11: 86,043,484 (GRCm39)	E360G	possibly damaging	Het
Casd1	A	T	6: 4,608,075 (GRCm39)	I76L	probably benign	Het
Casq2	G	A	3: 102,020,482 (GRCm39)		probably null	Het
Ccdc185	T	A	1: 182,575,129 (GRCm39)	Q520L	possibly damaging	Het
Cenpf	T	C	1: 189,392,183 (GRCm39)	K550E	probably damaging	Het
Ciz1	T	C	2: 32,262,418 (GRCm39)	S521P	probably damaging	Het
Clstn2	A	T	9: 97,340,257 (GRCm39)	V705E	probably damaging	Het
Dagla	A	G	19: 10,225,789 (GRCm39)	Y792H	probably damaging	Het
Dgke	A	T	11: 88,950,995 (GRCm39)	C73S	probably benign	Het
Egflam	A	G	15: 7,279,509 (GRCm39)		probably null	Het
Farp1	T	C	14: 121,471,258 (GRCm39)		probably null	Het
Fos	A	G	12: 85,522,790 (GRCm39)	E234G	probably benign	Het
Gtf3c5	A	T	2: 28,468,008 (GRCm39)	M151K	probably benign	Het
Hgs	G	A	11: 120,359,904 (GRCm39)	R36H	probably damaging	Het
Lats2	G	A	14: 57,937,653 (GRCm39)	Q279*	probably null	Het
Lysmd4	T	A	7: 66,875,788 (GRCm39)	D150E	probably benign	Het
Myo9a	A	C	9: 59,832,274 (GRCm39)	Q2601P	probably damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nr5a2	A	G	1: 136,876,543 (GRCm39)	V40A	probably benign	Het
Obscn	C	A	11: 58,898,534 (GRCm39)		probably benign	Het
Or2y1d	C	A	11: 49,322,078 (GRCm39)	Y258*	probably null	Het
Or4c114	A	G	2: 88,904,808 (GRCm39)	I209T	possibly damaging	Het
Or8g4	A	G	9: 39,661,934 (GRCm39)	N84S	probably benign	Het
Pclo	T	A	5: 14,732,269 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,118,228 (GRCm39)	I2939V	probably benign	Het
Rtn4	A	T	11: 29,657,256 (GRCm39)	K470I	probably damaging	Het
Sbno1	A	G	5: 124,524,955 (GRCm39)	I1050T	possibly damaging	Het
Scaf11	G	T	15: 96,316,522 (GRCm39)	S17*	probably null	Het
Scn9a	A	T	2: 66,363,721 (GRCm39)	N841K	probably damaging	Het
Slc35e3	C	A	10: 117,576,711 (GRCm39)	E207*	probably null	Het
Slc6a20b	A	G	9: 123,426,377 (GRCm39)	F503L	probably damaging	Het
Spag16	G	T	1: 69,909,504 (GRCm39)	K200N	probably damaging	Het
Supt6	G	T	11: 78,116,841 (GRCm39)	Q604K	probably benign	Het
Taok1	A	G	11: 77,469,550 (GRCm39)		probably null	Het
Tjp1	A	T	7: 64,964,503 (GRCm39)	H889Q	probably damaging	Het
Tmed6	A	T	8: 107,792,283 (GRCm39)		probably null	Het
Tsen54	A	T	11: 115,705,887 (GRCm39)	E68V	probably damaging	Het
Ttn	A	G	2: 76,559,878 (GRCm39)	S21181P	probably damaging	Het
Ube3d	A	T	9: 86,334,043 (GRCm39)	M33K	possibly damaging	Het
Umodl1	C	A	17: 31,203,002 (GRCm39)	Q452K	probably benign	Het
Wif1	G	T	10: 120,935,704 (GRCm39)	A354S	probably benign	Het
Wnk2	A	G	13: 49,210,492 (GRCm39)	F1788L	possibly damaging	Het
Zfhx3	A	T	8: 109,673,440 (GRCm39)	I1497F	possibly damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp30	G	A	7: 29,492,178 (GRCm39)	R225Q	probably damaging	Het
Zfp87	T	C	13: 74,520,190 (GRCm39)	E296G	probably damaging	Het
Zfp874b	A	G	13: 67,623,052 (GRCm39)	F86S	possibly damaging	Het
Zfyve19	A	G	2: 119,041,696 (GRCm39)	S88G	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
R0218:Mex3b	UTSW	7	82,518,312 (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'- TTGAGGGCGAAGACCAACACTTAC -3'
(R):5'- AAAGCCCACGTCTGTGCCATTG -3'

Sequencing Primer
(F):5'- gaagaccaacacttacatcaagac -3'
(R):5'- CCATTGGCATGGAAGTCGTTC -3'

Posted On

2013-07-30