|Institutional Source||Beutler Lab|
|Gene Name||zinc finger RNA binding protein|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4241 (G1)|
|Chromosomal Location||12117831-12185683 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 12149659 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 388 (D388E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000118911 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000122941] [ENSMUST00000128475]|
|Predicted Effect||probably damaging
AA Change: D388E
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: D388E
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.286|
|Coding Region Coverage||
|Validation Efficiency||98% (49/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zfr||
(F):5'- AGCAGATCTCATCCATGCTTTC -3'
(R):5'- GCAAGGTTTATAACACACTCAAAGG -3'
(F):5'- AGGGTCTCACCATGTAACTAGCTG -3'
(R):5'- CACACTCAAAGGTTTCAAAAATGG -3'