Incidental Mutation 'R6962:Mex3b'
ID 541815
Institutional Source Beutler Lab
Gene Symbol Mex3b
Ensembl Gene ENSMUSG00000057706
Gene Name mex3 RNA binding family member B
Synonyms Rkhd3, 4931439A04Rik
MMRRC Submission 045072-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # R6962 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 82516541-82520723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 82518473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 263 (S263A)
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: S263A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000082168
Gene: ENSMUSG00000057706
AA Change: S263A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 96% (74/77)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,150 (GRCm39) K1016E probably benign Het
Abca3 T C 17: 24,583,700 (GRCm39) F30L probably benign Het
Arhgap17 C T 7: 122,895,655 (GRCm39) G490R probably damaging Het
Arsg T A 11: 109,412,495 (GRCm39) L140H probably damaging Het
Bmp2k T A 5: 97,179,097 (GRCm39) C130* probably null Het
C4b T C 17: 34,951,140 (GRCm39) probably null Het
Cdk5r2 A G 1: 74,894,975 (GRCm39) Y240C probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Col27a1 A G 4: 63,237,738 (GRCm39) probably benign Het
Cubn G A 2: 13,352,840 (GRCm39) S1966F probably benign Het
Dnajc13 T C 9: 104,058,208 (GRCm39) Y1509C probably benign Het
Dpp4 A G 2: 62,203,174 (GRCm39) V265A probably benign Het
Dync2i1 A T 12: 116,175,398 (GRCm39) D926E probably damaging Het
Fbxl8 C A 8: 105,995,338 (GRCm39) N283K possibly damaging Het
Fev T A 1: 74,921,299 (GRCm39) Q122L probably benign Het
Fgd4 T A 16: 16,301,951 (GRCm39) probably null Het
Fnip2 A C 3: 79,396,610 (GRCm39) L439R probably damaging Het
Git1 C A 11: 77,395,469 (GRCm39) Q389K probably benign Het
Gm10509 C G 17: 21,909,833 (GRCm39) I53M possibly damaging Het
Gm5773 A T 3: 93,681,234 (GRCm39) H302L possibly damaging Het
Greb1l G T 18: 10,547,327 (GRCm39) R1515L probably damaging Het
Gsc2 T C 16: 17,732,902 (GRCm39) Y2C possibly damaging Het
H60b A G 10: 22,162,053 (GRCm39) N93D probably benign Het
Hgf G A 5: 16,820,752 (GRCm39) R633Q probably benign Het
Hmgb1 C T 5: 148,985,633 (GRCm39) probably benign Het
Hmmr T C 11: 40,598,242 (GRCm39) T657A probably damaging Het
Htt G T 5: 35,057,115 (GRCm39) probably null Het
Ift80 G A 3: 68,901,878 (GRCm39) probably benign Het
Kcnq5 G T 1: 21,576,017 (GRCm39) T229K probably damaging Het
Kcp C T 6: 29,482,839 (GRCm39) R1410Q probably benign Het
Klhl30 T G 1: 91,285,137 (GRCm39) V331G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc37 G A 11: 103,505,126 (GRCm39) P105S possibly damaging Het
Macf1 C T 4: 123,334,515 (GRCm39) R2849Q probably benign Het
Mrgpre A G 7: 143,334,799 (GRCm39) S235P probably damaging Het
Myh14 A T 7: 44,307,363 (GRCm39) V226D probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nudt8 G T 19: 4,051,831 (GRCm39) L147F probably damaging Het
Or2aj5 T A 16: 19,424,672 (GRCm39) I249L probably benign Het
Or52e8 T A 7: 104,624,580 (GRCm39) N208I probably benign Het
Or5w17 A G 2: 87,584,071 (GRCm39) Y89H probably benign Het
Or6z7 A T 7: 6,484,008 (GRCm39) I49N probably benign Het
P4htm C A 9: 108,456,394 (GRCm39) A469S possibly damaging Het
Pld4 A T 12: 112,733,288 (GRCm39) H288L probably benign Het
Pnpla1 T A 17: 29,097,455 (GRCm39) I207N probably damaging Het
Ppcs T G 4: 119,279,375 (GRCm39) N59T probably damaging Het
Ppm1k A T 6: 57,492,645 (GRCm39) C214S probably damaging Het
Psg25 C T 7: 18,263,679 (GRCm39) G48E probably damaging Het
Rassf7 A G 7: 140,797,503 (GRCm39) T239A possibly damaging Het
Rgs3 G T 4: 62,618,952 (GRCm39) probably benign Het
Scaper T C 9: 55,767,055 (GRCm39) T465A probably benign Het
Slc4a7 G T 14: 14,746,021 (GRCm38) G405C probably damaging Het
Smpd3 T C 8: 106,991,851 (GRCm39) D234G probably benign Het
Spata31f1e T C 4: 42,793,323 (GRCm39) T270A probably damaging Het
Ssc4d A G 5: 135,991,775 (GRCm39) probably null Het
Sugct G T 13: 17,032,606 (GRCm39) probably null Het
Taok2 C A 7: 126,466,088 (GRCm39) probably null Het
Tbx20 A G 9: 24,681,036 (GRCm39) V152A probably damaging Het
Tbx4 A G 11: 85,781,085 (GRCm39) E66G probably benign Het
Thbs2 T C 17: 14,902,082 (GRCm39) E382G probably benign Het
Ticrr T G 7: 79,315,645 (GRCm39) S300A possibly damaging Het
Trim46 A G 3: 89,146,303 (GRCm39) L396P probably damaging Het
Trim56 A G 5: 137,141,501 (GRCm39) F672L probably damaging Het
Ttf2 A G 3: 100,858,453 (GRCm39) L712S probably damaging Het
Unc93b1 T G 19: 3,986,303 (GRCm39) D112E possibly damaging Het
Usp17lc T C 7: 103,068,118 (GRCm39) L471P probably benign Het
Vmn2r85 A G 10: 130,261,452 (GRCm39) I295T probably damaging Het
Vmn2r96 T G 17: 18,818,283 (GRCm39) I812S probably damaging Het
Wdr7 G A 18: 63,998,359 (GRCm39) C1102Y possibly damaging Het
Wnt9b G T 11: 103,624,515 (GRCm39) Q92K probably null Het
Zbtb26 A T 2: 37,326,106 (GRCm39) M310K possibly damaging Het
Zdhhc1 T C 8: 106,210,279 (GRCm39) H46R probably damaging Het
Zfp628 G T 7: 4,922,549 (GRCm39) R257L probably benign Het
Zfp747l1 A T 7: 126,983,487 (GRCm39) D538E possibly damaging Het
Zmat4 A G 8: 24,392,181 (GRCm39) T46A probably benign Het
Zmiz2 T A 11: 6,352,455 (GRCm39) W637R probably damaging Het
Other mutations in Mex3b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAAGGAGCCAGTTTTCGAGG -3'
(R):5'- GTTGTTCCCATTGTGAGCAAAG -3'

Sequencing Primer
(F):5'- TTCGAGGTGACTGGCATGCC -3'
(R):5'- TTCCCATTGTGAGCAAAGCTGAG -3'
Posted On 2018-11-28