|Institutional Source||Beutler Lab|
|Gene Name||serine (or cysteine) peptidase inhibitor, clade A, member 6|
|Is this an essential gene?||Probably non essential (E-score: 0.072)|
|Stock #||R2363 (G1)|
|Chromosomal Location||103646630-103657212 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 103648609 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 326 (D326G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044033 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044159]|
|Predicted Effect||probably benign
AA Change: D326G
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: D326G
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
FUNCTION: This gene encodes a protein that belongs to the serpin (serine protease inhibitor) family. The encoded protein is an alpha-globulin with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors. [provided by RefSeq, Sep 2015]
PHENOTYPE: Null homozygotes exhibit reduced total plasma corticosterone, increased susceptibility to bacterial infection, attenuation of the stress-induced surge in free corticosterone, and enhanced behavioral response to intense or uncontrollable stress. They exhibit no locomotor sensitization to cocaine. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Serpina6||
(F):5'- CTGTTCATCCCATGGTAGCC -3'
(R):5'- GATATGCTGCTGTCTACTGCC -3'
(F):5'- GTTCATCCCATGGTAGCCAAGATG -3'
(R):5'- TGTCTACTGCCAGGCCTAG -3'