|Institutional Source||Beutler Lab|
|Gene Name||mex3 RNA binding family member C|
|Synonyms||Rkhd2, BM-013, A130001D14Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.465)|
|Stock #||R2075 (G1)|
|Chromosomal Location||73573044-73592575 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 73589769 bp|
|Amino Acid Change||Serine to Leucine at position 311 (S311L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000089463 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000091852]|
|Predicted Effect||probably benign
AA Change: S311L
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: S311L
|Coding Region Coverage||
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||
|Other mutations in Mex3c||
(F):5'- TTAAAGCACTGAGAGCCAAGAC -3'
(R):5'- TGAGCTCTATGTAGTTTCCGGTAC -3'
(F):5'- TGAGAGCCAAGACAAACACGTATATC -3'
(R):5'- GCTCGATCAACATTTTCGGG -3'