|Institutional Source||Beutler Lab|
|Gene Name||adaptor-related protein complex AP-4, sigma 1|
|Essential gene?||Not available|
|Stock #||R7445 (G1)|
|Chromosomal Location||51691033-51744786 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 51738641 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 132 (L132P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021338 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021338] [ENSMUST00000218820]|
AA Change: L132P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L132P
|Meta Mutation Damage Score||0.7479|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
|MGI Phenotype||FUNCTION: This gene encodes the sigma subunit of the adaptor-related protein complex 4 which mediates intracellular membrane trafficking along the endocytic and secretory transport pathways. This complex contains four subunits, beta, epsilon, mu, and sigma, and belongs to a family of five adapter protein complexes, including three clathrin-associated complexes and two non clathrin-associated complexes, that localize to different intracellular compartments and mediate membrane vesicle trafficking using distinct pathways. In humans, loss-of-function mutations in this gene have been linked to specific adapter complex 4 deficiency disorders including hereditary spastic paraplegia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ap4s1||
(F):5'- AGGTCCTGTCTGTCTACTAAGG -3'
(R):5'- CCAAGTAAAATTGTGGCTCTCTG -3'
(F):5'- ACAAAAGCAGGTTTAGGTTTACC -3'
(R):5'- AGTAAAATTGTGGCTCTCTGTTAAG -3'