Incidental Mutation 'R8670:Mex3c'
ID 661133
Institutional Source Beutler Lab
Gene Symbol Mex3c
Ensembl Gene ENSMUSG00000037253
Gene Name mex3 RNA binding family member C
Synonyms Rkhd2, BM-013, A130001D14Rik
MMRRC Submission 068525-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R8670 (G1)
Quality Score 217.468
Status Not validated
Chromosome 18
Chromosomal Location 73706115-73725646 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GC to G at 73722776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000089463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091852]
AlphaFold Q05A36
Predicted Effect probably null
Transcript: ENSMUST00000091852
SMART Domains Protein: ENSMUSP00000089463
Gene: ENSMUSG00000037253

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.8%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,966,424 (GRCm39) L403Q probably damaging Het
Actl11 T C 9: 107,805,959 (GRCm39) F94S possibly damaging Het
Adam34 C T 8: 44,105,126 (GRCm39) C173Y possibly damaging Het
Ankrd24 C T 10: 81,465,526 (GRCm39) probably benign Het
Armh2 A G 13: 24,930,240 (GRCm39) E162G probably benign Het
Atp12a A T 14: 56,617,546 (GRCm39) D612V probably damaging Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Ccdc178 T C 18: 22,230,719 (GRCm39) E384G possibly damaging Het
Cd82 T A 2: 93,250,905 (GRCm39) T212S probably benign Het
Cdk17 T A 10: 93,061,958 (GRCm39) L263* probably null Het
Cfap57 T G 4: 118,472,122 (GRCm39) I86L possibly damaging Het
Chd5 T C 4: 152,469,953 (GRCm39) M1842T possibly damaging Het
Clcn7 T C 17: 25,378,588 (GRCm39) F691S probably damaging Het
Cpvl A T 6: 53,951,780 (GRCm39) M1K probably null Het
Cym T C 3: 107,118,812 (GRCm39) probably null Het
Diaph3 T C 14: 86,893,835 (GRCm39) E1147G probably benign Het
Eif4g3 T G 4: 137,885,823 (GRCm39) probably null Het
Esp3 A G 17: 40,943,040 (GRCm39) D11G probably benign Het
Exoc1 A G 5: 76,717,505 (GRCm39) Y865C probably damaging Het
Flg2 A T 3: 93,108,791 (GRCm39) Q273L probably damaging Het
Fuca1 G A 4: 135,650,282 (GRCm39) V118I possibly damaging Het
Gga3 T C 11: 115,478,542 (GRCm39) N417D probably benign Het
Il1rl1 A T 1: 40,480,559 (GRCm39) I63F probably damaging Het
Kif26b A G 1: 178,741,349 (GRCm39) Y785C probably damaging Het
Kif5b A C 18: 6,214,631 (GRCm39) S599A probably benign Het
Klhl22 T A 16: 17,594,327 (GRCm39) I152N probably damaging Het
Muc21 T A 17: 35,932,540 (GRCm39) T549S unknown Het
Or52n2c A T 7: 104,574,419 (GRCm39) M184K probably damaging Het
Or8g2 A G 9: 39,821,719 (GRCm39) I207V probably benign Het
Orc3 A T 4: 34,572,529 (GRCm39) I633N probably damaging Het
Pclo G A 5: 14,732,061 (GRCm39) R3521H unknown Het
Plec A G 15: 76,061,726 (GRCm39) L2737P probably damaging Het
Prom1 T A 5: 44,159,186 (GRCm39) I813F probably benign Het
Prpf40b T A 15: 99,207,621 (GRCm39) M517K probably damaging Het
Rab8a TA TAA 8: 72,925,130 (GRCm39) probably null Het
Rnf213 T C 11: 119,349,563 (GRCm39) L3808P Het
Scnn1b A G 7: 121,498,472 (GRCm39) K4R probably benign Het
Siglec1 A G 2: 130,923,387 (GRCm39) S453P probably damaging Het
Sim1 A G 10: 50,784,849 (GRCm39) K165E probably damaging Het
Slc49a4 G T 16: 35,556,005 (GRCm39) Q152K possibly damaging Het
Slco1a7 G A 6: 141,711,468 (GRCm39) T81I possibly damaging Het
Smarce1 T C 11: 99,101,098 (GRCm39) T345A possibly damaging Het
Spty2d1 T C 7: 46,647,519 (GRCm39) N470S probably benign Het
Stab2 T A 10: 86,776,587 (GRCm39) D763V probably damaging Het
Tbl1xr1 A T 3: 22,245,164 (GRCm39) E171D probably damaging Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tex15 T A 8: 34,064,746 (GRCm39) I1392K probably benign Het
Thada T C 17: 84,739,774 (GRCm39) E827G probably benign Het
Ttc3 A G 16: 94,191,067 (GRCm39) Y185C probably damaging Het
Vmn2r18 C A 5: 151,485,854 (GRCm39) D547Y probably damaging Het
Wdpcp T C 11: 21,645,196 (GRCm39) V208A probably benign Het
Zfp322a T A 13: 23,541,274 (GRCm39) Q156L possibly damaging Het
Zfp947 T C 17: 22,364,687 (GRCm39) D329G 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
IGL02327:Mex3c APN 18 73,723,781 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CATGGAATTAGGGGATGTCAGC -3'
(R):5'- TTTTCGGGCATCCCTGTGAC -3'

Sequencing Primer
(F):5'- GTACACTAAAGAGCATTTCTAGAGC -3'
(R):5'- ATCCCTGTGACTTCAAAGACTGG -3'
Posted On 2021-03-08