|Institutional Source||Beutler Lab|
|Gene Name||archain 1|
|Synonyms||4632432M07Rik, pale coat neuro, nur17|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4402001 (G1)|
|Chromosomal Location||44741564-44767845 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 44745602 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 421 (V421E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034607 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034607]|
|Predicted Effect||possibly damaging
AA Change: V421E
PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V421E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation have a dilute coat color and neurological defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arcn1||
(F):5'- ATCAGACACTTGTCCTGCC -3'
(R):5'- TAGCCAAGGTGTTATGACTTCC -3'
(F):5'- GAGTACCTGTATGTTGCAGTAATTC -3'
(R):5'- GACTTCCATCCTTGAAGTTACCAAG -3'