|Institutional Source||Beutler Lab|
|Gene Name||coagulation factor V|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5056 (G1)|
|Chromosomal Location||164151838-164220277 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 164192032 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 692 (Y692F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000083204 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000086040]|
|Predicted Effect||possibly damaging
AA Change: Y692F
PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: Y692F
|Meta Mutation Damage Score||0.0758|
|Coding Region Coverage||
|Validation Efficiency||99% (73/74)|
FUNCTION: This gene encodes a glycoprotein coagulation factor that plays a critical role in the process of blood coagulation and hemostasis. The encoded protein is activated by thrombin, to generate a heterodimer containing heavy and light chains held together by calcium ions. About half of the mice lacking the encoded protein die at an embryonic stage possible due to abnormal yolk-sac vasculature while the remaining animals succumbed to massive hemorrhage immediately after birth. A point mutation in this gene has been shown to cause disseminated intravascular thrombosis in the perinatal period, resulting in frequent deaths of newborn mice. [provided by RefSeq, Apr 2015]
PHENOTYPE: Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in F5||
(F):5'- GTGGCTACCTCTGGTTAAAATTCAC -3'
(R):5'- GAGCAGTGAGATTGAACTCATTTTC -3'
(F):5'- AAAATTTTTCTCCAACAGATCCTCC -3'
(R):5'- GAGATTGAACTCATTTTCCTCTGG -3'