|Institutional Source||Beutler Lab|
|Gene Name||exophilin 5|
|Synonyms||Slac2b, AC079869.22gm5, B130009M24Rik, slac2-b|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4926 (G1)|
|Chromosomal Location||53301670-53377514 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 53376625 bp|
|Amino Acid Change||Serine to Proline at position 1669 (S1669P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062632 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051014]|
|Predicted Effect||possibly damaging
AA Change: S1669P
PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: S1669P
|Meta Mutation Damage Score||0.0825|
|Coding Region Coverage||
|Validation Efficiency||99% (87/88)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Exph5||
(F):5'- TATCTTCTCCCAAAGTGAAAGCG -3'
(R):5'- TCTGAGTAGGCTCTAAGGGG -3'
(F):5'- TTCTCCCAAAGTGAAAGCGAATCTG -3'
(R):5'- CTCTAAGGGGAAAGGAGGACTTAACC -3'