Incidental Mutation 'IGL02513:Mex3c'
ID 296635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mex3c
Ensembl Gene ENSMUSG00000037253
Gene Name mex3 RNA binding family member C
Synonyms Rkhd2, BM-013, A130001D14Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # IGL02513
Quality Score
Status
Chromosome 18
Chromosomal Location 73706115-73725646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73723360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 484 (D484E)
Ref Sequence ENSEMBL: ENSMUSP00000089463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091852]
AlphaFold Q05A36
Predicted Effect possibly damaging
Transcript: ENSMUST00000091852
AA Change: D484E

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000089463
Gene: ENSMUSG00000037253
AA Change: D484E

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 58 84 N/A INTRINSIC
coiled coil region 96 135 N/A INTRINSIC
low complexity region 136 149 N/A INTRINSIC
low complexity region 166 177 N/A INTRINSIC
low complexity region 197 216 N/A INTRINSIC
KH 223 291 5.53e-10 SMART
KH 318 385 2.98e-15 SMART
low complexity region 430 451 N/A INTRINSIC
Blast:KH 496 532 8e-6 BLAST
low complexity region 574 591 N/A INTRINSIC
RING 601 640 3.02e-4 SMART
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 a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozgyous for a gene trap allele exhibit strain dependent neonatal lethality and alveolar defects, growth retardation, and defects in long bone growth plate. Mice homozygous for a null allele display growth retardation and impaired cytokine production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob G T 12: 8,042,979 (GRCm39) V787F probably benign Het
Atg14 T C 14: 47,786,451 (GRCm39) I268V probably benign Het
Atg14 T A 14: 47,783,081 (GRCm39) probably benign Het
Atm A T 9: 53,408,562 (GRCm39) probably benign Het
Ccdc9 A G 7: 16,018,434 (GRCm39) probably benign Het
Cers6 T C 2: 68,899,013 (GRCm39) F217S probably benign Het
Crebbp A C 16: 3,944,469 (GRCm39) probably null Het
Csmd1 T A 8: 16,049,869 (GRCm39) probably benign Het
Dmac2l A T 12: 69,787,819 (GRCm39) Y85F probably benign Het
Eml1 T A 12: 108,496,571 (GRCm39) V609E probably damaging Het
Fryl A G 5: 73,222,636 (GRCm39) S204P probably damaging Het
Gpr152 A G 19: 4,192,843 (GRCm39) D128G probably damaging Het
Itgal T A 7: 126,927,844 (GRCm39) V1013D possibly damaging Het
Kctd18 A G 1: 58,004,559 (GRCm39) Y112H probably damaging Het
Kdm4d T A 9: 14,375,850 (GRCm39) T3S probably benign Het
Lrp1b C T 2: 41,000,765 (GRCm39) probably null Het
Nalf1 T A 8: 9,257,930 (GRCm39) D406V probably benign Het
Nat14 T C 7: 4,927,050 (GRCm39) V74A possibly damaging Het
Or2b6 A G 13: 21,823,510 (GRCm39) F61S probably damaging Het
Pabpc2 C T 18: 39,908,193 (GRCm39) T486I probably benign Het
Pgm2 A G 5: 64,260,289 (GRCm39) probably benign Het
Pkn3 T A 2: 29,973,149 (GRCm39) I353N probably damaging Het
Rbm44 T A 1: 91,083,260 (GRCm39) S594R possibly damaging Het
Rrbp1 C T 2: 143,830,350 (GRCm39) A606T possibly damaging Het
Tcof1 A G 18: 60,964,850 (GRCm39) V623A possibly damaging Het
Tg A G 15: 66,577,123 (GRCm39) E1482G probably benign Het
Uba1 A G X: 20,541,885 (GRCm39) T546A probably benign Het
Vmn2r37 T C 7: 9,220,934 (GRCm39) K310E probably benign Het
Zbtb38 A T 9: 96,569,126 (GRCm39) W653R probably damaging Het
Zdhhc19 A T 16: 32,318,440 (GRCm39) I99F probably damaging Het
Zfp236 T C 18: 82,648,239 (GRCm39) Y974C probably damaging Het
Other mutations in Mex3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Mex3c APN 18 73,722,960 (GRCm39) missense probably damaging 1.00
IGL01615:Mex3c APN 18 73,706,703 (GRCm39) missense unknown
IGL01953:Mex3c APN 18 73,723,104 (GRCm39) missense probably damaging 0.98
IGL02327:Mex3c APN 18 73,723,781 (GRCm39) missense probably damaging 1.00
IGL02588:Mex3c APN 18 73,723,116 (GRCm39) missense probably damaging 0.98
R0013:Mex3c UTSW 18 73,723,622 (GRCm39) missense probably benign 0.18
R0013:Mex3c UTSW 18 73,723,622 (GRCm39) missense probably benign 0.18
R0532:Mex3c UTSW 18 73,723,124 (GRCm39) missense possibly damaging 0.95
R1305:Mex3c UTSW 18 73,723,306 (GRCm39) missense probably benign 0.39
R2075:Mex3c UTSW 18 73,722,840 (GRCm39) missense probably benign 0.00
R2290:Mex3c UTSW 18 73,723,764 (GRCm39) missense probably damaging 1.00
R2330:Mex3c UTSW 18 73,706,799 (GRCm39) missense probably damaging 1.00
R5607:Mex3c UTSW 18 73,723,014 (GRCm39) missense possibly damaging 0.96
R5608:Mex3c UTSW 18 73,723,014 (GRCm39) missense possibly damaging 0.96
R6373:Mex3c UTSW 18 73,723,065 (GRCm39) missense probably benign 0.28
R7719:Mex3c UTSW 18 73,723,061 (GRCm39) missense possibly damaging 0.81
R8670:Mex3c UTSW 18 73,722,776 (GRCm39) frame shift probably null
R8887:Mex3c UTSW 18 73,706,800 (GRCm39) missense probably damaging 1.00
R9144:Mex3c UTSW 18 73,723,397 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16