|Institutional Source||Beutler Lab|
|Gene Name||growth arrest specific 6|
|Synonyms||growth arrest-specific, Gas-6, GAS 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7374 (G1)|
|Chromosomal Location||13465374-13494490 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 13474802 bp|
|Amino Acid Change||Valine to Aspartic acid at position 330 (V330D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033828 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033828]|
|Predicted Effect||probably damaging
AA Change: V330D
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: V330D
|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'- CTGGACTAACTAGAGCAGGAGC -3'
(R):5'- AGCTCCACCTCTGAGAGAAC -3'
(F):5'- CCCAAATGCTAGGGATAGCCTTG -3'
(R):5'- GAGAGAACCAGCTCCCCATGTG -3'