Incidental Mutation 'IGL01112:Mex3b'
ID 51574
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 # IGL01112
Quality Score
Status
Chromosome 7
Chromosomal Location 82516541-82520723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82518911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 409 (S409T)
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: S409T

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082168
Gene: ENSMUSG00000057706
AA Change: S409T

DomainStartEndE-ValueType
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T C 7: 144,190,882 (GRCm39) I401V possibly damaging Het
Ap2a2 A T 7: 141,184,932 (GRCm39) probably benign Het
Apol7c T A 15: 77,410,637 (GRCm39) D103V probably damaging Het
Arid4a T C 12: 71,119,507 (GRCm39) probably null Het
Atp2a1 A G 7: 126,049,479 (GRCm39) V521A probably benign Het
Ccdc88c G T 12: 100,883,062 (GRCm39) D1603E probably benign Het
Clec4f T C 6: 83,630,182 (GRCm39) I125M probably benign Het
Dsc1 T C 18: 20,227,679 (GRCm39) I520V probably benign Het
Eomes G A 9: 118,311,334 (GRCm39) A386T probably damaging Het
Gldc C T 19: 30,135,913 (GRCm39) probably null Het
Hectd4 G T 5: 121,445,013 (GRCm39) M1420I probably benign Het
Hmcn1 A T 1: 150,508,303 (GRCm39) probably benign Het
Ighv6-3 G A 12: 114,355,335 (GRCm39) T118I possibly damaging Het
Krt82 A G 15: 101,453,958 (GRCm39) F250S probably damaging Het
Ltb A G 17: 35,413,576 (GRCm39) T27A probably benign Het
Mki67 A T 7: 135,315,745 (GRCm39) I39N probably damaging Het
Or51a7 A G 7: 102,615,235 (GRCm39) probably benign Het
Palmd A G 3: 116,717,922 (GRCm39) S192P probably damaging Het
Pcdh20 A T 14: 88,704,636 (GRCm39) M888K probably benign Het
Pclo A T 5: 14,731,083 (GRCm39) H3195L unknown Het
Pgm2 A T 5: 64,260,225 (GRCm39) I137F possibly damaging Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Rmnd1 T C 10: 4,360,793 (GRCm39) probably null Het
Rnf114 T C 2: 167,354,459 (GRCm39) M180T probably damaging Het
Sap30 A G 8: 57,938,123 (GRCm39) F165L possibly damaging Het
Scgb3a2 T A 18: 43,900,059 (GRCm39) probably benign Het
Sftpa1 A T 14: 40,854,527 (GRCm39) N38I probably benign Het
Sumf1 A G 6: 108,152,977 (GRCm39) F137S probably damaging Het
Tln2 C A 9: 67,219,093 (GRCm39) R284L probably damaging Het
Ttn C T 2: 76,570,703 (GRCm39) R26730Q probably damaging Het
Ttn T A 2: 76,540,808 (GRCm39) R25732S probably damaging Het
Tubgcp4 T C 2: 121,004,082 (GRCm39) V41A probably benign Het
Usp53 T A 3: 122,751,367 (GRCm39) Q230L probably damaging Het
Vmn2r57 T C 7: 41,074,467 (GRCm39) E532G probably damaging Het
Vps9d1 G T 8: 123,972,769 (GRCm39) N454K probably damaging Het
Wdr55 T C 18: 36,895,132 (GRCm39) probably null Het
Zfp263 T A 16: 3,566,776 (GRCm39) C76S probably benign Het
Other mutations in Mex3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Mex3b APN 7 82,518,116 (GRCm39) missense probably damaging 1.00
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
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 2013-06-21