|Institutional Source||Beutler Lab|
|Synonyms||sid23p, ADF, corn1, 2610043P17Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1541 (G1)|
|Chromosomal Location||143915320-143943324 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 143938488 bp|
|Amino Acid Change||Valine to Alanine at position 36 (V36A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099461 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103172]|
|Predicted Effect||possibly damaging
AA Change: V36A
PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: V36A
|Meta Mutation Damage Score||0.4167|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice carrying mutations at this locus develop irregular thickening of the corneal epithelium. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dstn||
(F):5'- GCCAATCTGTAGCCAAAATGCAGTG -3'
(R):5'- TAGCGGCTCCATATCCTAGTGCTC -3'
(F):5'- GTTCAGGTTGCGGATGAAGT -3'
(R):5'- TATCCTAGTGCTCACCACAGG -3'