|Institutional Source||Beutler Lab|
|Gene Name||mex3 RNA binding family member C|
|Synonyms||Rkhd2, BM-013, A130001D14Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.676)|
|Stock #||R0013 (G1)|
|Chromosomal Location||73573044-73592575 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 73590551 bp|
|Amino Acid Change||Alanine to Threonine at position 572 (A572T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000089463 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000091852]|
|Predicted Effect||probably benign
AA Change: A572T
PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: A572T
|Meta Mutation Damage Score||0.1009|
|Coding Region Coverage||
|Validation Efficiency||94% (79/84)|
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'- AGCTGACTTTAGTCCAACAAGCCC -3'
(R):5'- GGACATGACGGCGTTCTCTTTTCAC -3'
(F):5'- GGTTTGGAGATACACTACCATCTG -3'
(R):5'- ACAGATCTTGTTGGCACATTC -3'