|Institutional Source||Beutler Lab|
|Synonyms||l1Rk3, l(1)-3Rk, D1Wsu84e, Slac-2a|
|Is this an essential gene?||Probably non essential (E-score: 0.095)|
|Stock #||R5588 (G1)|
|Chromosomal Location||90915085-90951142 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 90931599 bp|
|Amino Acid Change||Serine to Proline at position 219 (S219P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027528 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027528] [ENSMUST00000125149]|
|Predicted Effect||possibly damaging
AA Change: S219P
PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: S219P
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous targeted null mutants affect viability and body size, and result in abnormal lungs, kidneys, immune system, hematopoiesis, myelopoiesis, and anomalies in cerebellar foliation and neuronal cell layer development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mlph||
(F):5'- CAGGGCTCCTTTGGATCAGTTTC -3'
(R):5'- AAAGTCCCTTTGCCTTGAGAG -3'
(F):5'- TCTAGCTAGAGATAGGTGTCCC -3'
(R):5'- CCTTGAGAGTCTGATGTGACCAC -3'