|Institutional Source||Beutler Lab|
|Gene Name||actin filament associated protein 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.401)|
|Stock #||R6008 (G1)|
|Chromosomal Location||35893319-36003923 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 35997551 bp|
|Amino Acid Change||Serine to Alanine at position 680 (S680A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067779 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064571] [ENSMUST00000141824]|
|Predicted Effect||probably damaging
AA Change: S680A
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: S680A
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0974|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit inability to nurse pups due to failed secretory activation, reduced milk lipid synthesis and precocious mammary gland involution. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Afap1||
(F):5'- TCCATCCCTCTGAAAGTGCC -3'
(R):5'- ACTTGCTCAGTACCTCTGGC -3'
(F):5'- TCTGAAAGTGCCCCTGGGATC -3'
(R):5'- AGACTGAGTGCCAAGTGC -3'