|Institutional Source||Beutler Lab|
|Gene Name||fibrinogen beta chain|
|Is this an essential gene?||Probably essential (E-score: 0.849)|
|Stock #||R7811 (G1)|
|Chromosomal Location||83040141-83049863 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 83049697 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 22 (D22G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039472 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048246]|
|Predicted Effect||probably benign
AA Change: D22G
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: D22G
|Meta Mutation Damage Score||0.2027|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
|MGI Phenotype||FUNCTION: This gene encodes the beta subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded preproprotein is proteolytically processed by thrombin to release an N-terminal fibrinopeptide during the conversion of fibrinogen to insoluble fibrin polymer. The encoded protein interacts with the amyloid beta peptide to form fibrin clots of abnormal structure, and may play an important role in Alzheimer's disease. This gene is located adjacent to the genes encoding fibrinogen alpha and gamma subunits on chromosome 3. [provided by RefSeq, Nov 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fgb||
(F):5'- TCTCACCCTGGAGAAACGAAG -3'
(R):5'- GTTCAGCCAACAAGTGAACC -3'
(F):5'- CCTGGAGAAACGAAGGTGAATCATC -3'
(R):5'- GAGGTAACCATTCCTGAAGTCATGC -3'