|Institutional Source||Beutler Lab|
|Gene Name||coagulation factor V|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0522 (G1)|
|Chromosomal Location||164151838-164220277 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 164211763 bp|
|Amino Acid Change||Serine to Proline at position 1981 (S1981P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000083204 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000086040]|
|Predicted Effect||probably damaging
AA Change: S1981P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S1981P
|Meta Mutation Damage Score||0.1680|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
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'- TGTCCCAGGAGCCTCAAAGTCTAAC -3'
(R):5'- GAAGGTGGTACTTCTTGCCCCTTAC -3'
(F):5'- ccctctttccatctttcttttcttc -3'
(R):5'- TACCGTTCACCTCACAGCC -3'