|Institutional Source||Beutler Lab|
|Gene Name||coagulation factor XI|
|Synonyms||FXI, plasma thromboplastin antecedent, Cf11, 1600027G01Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R4467 (G1)|
|Chromosomal Location||45241174-45262031 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 45241474 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 617 (I617F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034064 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034064]|
|Predicted Effect||probably damaging
AA Change: I617F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I617F
|Meta Mutation Damage Score||0.8094|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
FUNCTION: This gene encodes a glycoprotein coagulation factor that plays an important role in intrinsic pathway of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that can be activated by coagulation factor XIIa, thrombin or factor XIa to generate active factor XIa protease. Mice lacking the encoded protein display a survival advantage during peritoneal sepsis and resist inflammation and bacterial accumulation upon infection with Listeria. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show a tendency for slightly prolonged tail transection bleeding times and are protected from vessel-occluding fibrin formation after transient ischemic brain injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in F11||
(F):5'- CAGTGGTTCTCCCAGATCAG -3'
(R):5'- GAAATGCCTACCATGATCCCGG -3'
(F):5'- AGTGGTTCTCCCAGATCAGGAATTC -3'
(R):5'- TACCATGATCCCGGCATGTG -3'