|Institutional Source||Beutler Lab|
|Gene Name||coagulation factor XII (Hageman factor)|
|Is this an essential gene?||Probably non essential (E-score: 0.172)|
|Stock #||R1670 (G1)|
|Chromosomal Location||55417958-55426793 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 55421533 bp|
|Amino Acid Change||Cysteine to Tyrosine at position 209 (C209Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021948 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021948] [ENSMUST00000170921]|
|Predicted Effect||probably damaging
AA Change: C209Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C209Y
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.524|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: This gene encodes a glycoprotein coagulation factor that plays an important role in the intrinsic pathway of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that is autoactivated upon contact with negatively charged surfaces or misfolded protein aggregates. Mice lacking the encoded protein have a severe defect in forming stable fibrin clots. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are protected from ischemic brain injury in an experimental stroke model, without exhibiting an increase in infarct-associated hemorrhage. Another null mouse shows decreased plasma bradykinin levels and prolonged activated partial thromboplastin times. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in F12||
(F):5'- CCCTAAGAGAAAGCAAGTTCCCCTG -3'
(R):5'- AAAGGTTCTGAGGCTCACTGCAAG -3'
(F):5'- AAAATGCGTGGTGGCCC -3'
(R):5'- GAGTCAGGAACCCCTGGTAG -3'