Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02328:Mex3b'

288578

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mex3b

Ensembl Gene

ENSMUSG00000057706

Gene Name

mex3 RNA binding family member B

Synonyms

Rkhd3, 4931439A04Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

IGL02328

Quality Score

Status

Chromosome

Chromosomal Location

82516541-82520723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82518920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 412 (S412P)

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: S412P

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

SMART Domains

Protein: ENSMUSP00000082168
Gene: ENSMUSG00000057706
AA Change: S412P

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,726,294 (GRCm39)	N577I	probably damaging	Het
Arhgef1	T	C	7: 24,623,240 (GRCm39)	L667P	probably damaging	Het
Btk	G	A	X: 133,459,449 (GRCm39)	P192L	probably damaging	Het
Col12a1	T	A	9: 79,589,348 (GRCm39)	Y1069F	probably damaging	Het
Dnah7a	C	T	1: 53,564,096 (GRCm39)		probably null	Het
E230025N22Rik	A	G	18: 36,828,667 (GRCm39)	S4P	probably damaging	Het
Ei24	A	T	9: 36,696,827 (GRCm39)		probably null	Het
Foxred2	A	G	15: 77,840,032 (GRCm39)	L86P	probably damaging	Het
Gm3127	A	T	14: 15,424,989 (GRCm39)	R42W	probably damaging	Het
Hgf	A	G	5: 16,803,219 (GRCm39)	Y377C	probably damaging	Het
Hpse2	A	T	19: 42,920,038 (GRCm39)	L354I	probably damaging	Het
Hspa4	A	G	11: 53,190,885 (GRCm39)		probably null	Het
Iqcg	T	G	16: 32,839,876 (GRCm39)	I357L	probably benign	Het
Itsn1	T	C	16: 91,612,295 (GRCm39)	L204P	probably damaging	Het
Kalrn	T	C	16: 34,152,594 (GRCm39)	N311S	probably damaging	Het
Lmod2	A	G	6: 24,603,832 (GRCm39)	D269G	probably benign	Het
Med16	A	G	10: 79,743,376 (GRCm39)	S29P	probably damaging	Het
Myo15a	A	G	11: 60,417,433 (GRCm39)	I3443V	probably benign	Het
Naip2	A	T	13: 100,297,877 (GRCm39)	L720I	probably damaging	Het
Or1e26	A	G	11: 73,480,081 (GRCm39)	V161A	probably benign	Het
Or4z4	T	A	19: 12,076,146 (GRCm39)	I286F	probably damaging	Het
Or52ab4	A	T	7: 102,987,497 (GRCm39)	I79F	probably damaging	Het
Or6c213	T	C	10: 129,573,895 (GRCm39)	D297G	probably benign	Het
Or8b1b	A	T	9: 38,375,972 (GRCm39)	I212F	probably benign	Het
Pan3	A	G	5: 147,466,933 (GRCm39)		probably null	Het
Pitpnm2	T	C	5: 124,259,477 (GRCm39)	Q1286R	probably damaging	Het
Scgb2b24	A	G	7: 33,438,050 (GRCm39)		probably benign	Het
Sh2b3	T	C	5: 121,955,922 (GRCm39)	D520G	probably benign	Het
Skint4	T	A	4: 111,977,255 (GRCm39)	I215N	possibly damaging	Het
Slc24a5	A	G	2: 124,922,559 (GRCm39)	D107G	probably damaging	Het
Slit2	T	C	5: 48,387,646 (GRCm39)	I549T	probably damaging	Het
Stambp	A	G	6: 83,533,363 (GRCm39)	L300P	possibly damaging	Het
Taf2	T	C	15: 54,891,772 (GRCm39)	N1017S	probably benign	Het
Tm9sf2	T	G	14: 122,380,842 (GRCm39)	V145G	possibly damaging	Het
Tor1aip2	G	T	1: 155,940,720 (GRCm39)	C342F	probably damaging	Het
Ubr4	C	T	4: 139,206,233 (GRCm39)	T4823M	probably damaging	Het
Vmn1r80	G	T	7: 11,927,405 (GRCm39)	A172S	probably benign	Het
Vmn2r67	T	A	7: 84,799,898 (GRCm39)	N447Y	probably benign	Het
Zbtb1	A	G	12: 76,433,450 (GRCm39)	N479D	possibly 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
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
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

Posted On

2015-04-16