Incidental Mutation 'IGL02327:Mex3c'
ID 288529
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 # IGL02327
Quality Score
Status
Chromosome 18
Chromosomal Location 73706115-73725646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73723781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 625 (C625S)
Ref Sequence ENSEMBL: ENSMUSP00000089463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091852]
AlphaFold Q05A36
Predicted Effect probably damaging
Transcript: ENSMUST00000091852
AA Change: C625S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089463
Gene: ENSMUSG00000037253
AA Change: C625S

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,943,849 (GRCm39) C29S probably damaging Het
Ccdc66 G A 14: 27,215,343 (GRCm39) A399V probably damaging Het
Ccl12 A G 11: 81,993,948 (GRCm39) I68M possibly damaging Het
Cd244a T C 1: 171,386,909 (GRCm39) V6A probably benign Het
Cfap97 T A 8: 46,623,179 (GRCm39) S190T probably damaging Het
Chic2 G T 5: 75,187,741 (GRCm39) C106* probably null Het
Ctdsp2 G A 10: 126,832,251 (GRCm39) D237N probably benign Het
Cyp2a22 A T 7: 26,634,206 (GRCm39) M316K probably damaging Het
Cyp3a25 A G 5: 145,923,731 (GRCm39) F304S possibly damaging Het
Ddc A T 11: 11,813,739 (GRCm39) V209D probably damaging Het
Dhx16 A G 17: 36,194,717 (GRCm39) K446R probably benign Het
Fgd3 T C 13: 49,439,274 (GRCm39) K241E probably damaging Het
Hps1 G T 19: 42,744,784 (GRCm39) probably benign Het
Inpp4b C T 8: 82,768,591 (GRCm39) T700I probably benign Het
Kremen2 T A 17: 23,962,543 (GRCm39) M157L probably benign Het
Lrwd1 T C 5: 136,152,318 (GRCm39) Y582C probably damaging Het
Macf1 T A 4: 123,365,523 (GRCm39) R1514S probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Ncf2 A T 1: 152,692,744 (GRCm39) Y87F possibly damaging Het
Neo1 T C 9: 58,810,371 (GRCm39) T1027A probably benign Het
Nfkbib G T 7: 28,458,568 (GRCm39) P347Q probably benign Het
Nr1h2 G A 7: 44,200,924 (GRCm39) probably benign Het
Or1e25 A T 11: 73,493,981 (GRCm39) T192S probably damaging Het
Or2t43 T A 11: 58,457,761 (GRCm39) R137W probably damaging Het
Or9m2 A T 2: 87,820,601 (GRCm39) I49F probably damaging Het
Oxct1 A G 15: 4,066,571 (GRCm39) probably null Het
Pak1ip1 T G 13: 41,165,893 (GRCm39) N308K probably benign Het
Prpf38a T C 4: 108,425,607 (GRCm39) R224G unknown Het
Scfd1 T C 12: 51,436,100 (GRCm39) V83A possibly damaging Het
Tmem131 C T 1: 36,838,103 (GRCm39) G1545D probably damaging Het
Trav13n-4 A T 14: 53,601,567 (GRCm39) probably benign Het
Ttc3 A G 16: 94,248,967 (GRCm39) D1155G probably damaging Het
Unc80 G A 1: 66,680,832 (GRCm39) V2143I probably benign Het
Vmn2r16 T C 5: 109,487,987 (GRCm39) Y287H probably benign Het
Vmn2r59 A G 7: 41,661,655 (GRCm39) V720A probably benign Het
Wars1 T A 12: 108,832,227 (GRCm39) probably null Het
Wdcp A G 12: 4,901,115 (GRCm39) K324E possibly damaging Het
Wdfy3 A T 5: 102,036,058 (GRCm39) L2105H probably damaging Het
Xirp2 A T 2: 67,340,444 (GRCm39) D895V probably damaging Het
Zscan10 A T 17: 23,826,546 (GRCm39) probably benign 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
IGL02513:Mex3c APN 18 73,723,360 (GRCm39) missense possibly damaging 0.50
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