|Institutional Source||Beutler Lab|
|Gene Name||growth arrest specific 6|
|Synonyms||growth arrest-specific, Gas-6, GAS 6|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5706 (G1)|
|Chromosomal Location||13465374-13494490 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 13477098 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 217 (S217P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033828 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033828]|
AA Change: S217P
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: S217P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice are protected against arterial and venous thrombosis, and though platelet aggregation is impaired, spontaneous or excess trauma-induced bleeding is not observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gas6||
(F):5'- AGACTTCCTGGAACACTGGAC -3'
(R):5'- CAATGTGGATGAGCAGCATGTG -3'
(F):5'- CCTGGAACACTGGACCAATGATTG -3'
(R):5'- ACTATCACTTGACACCCGTGG -3'