|Institutional Source||Beutler Lab|
|Gene Name||fermitin family member 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0180 (G1)|
|Chromosomal Location||6998958-7019469 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 7002343 bp|
|Amino Acid Change||Serine to Isoleucine at position 474 (S474I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037858 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040772] [ENSMUST00000088223]|
|Predicted Effect||possibly damaging
AA Change: S474I
PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: S474I
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1314|
|Coding Region Coverage||
|Validation Efficiency||77% (53/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
PHENOTYPE: Disruption of this marker results in lethality in the first week after birth, abnormal erythropoiesis and platelet function, and severe hemorrhage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fermt3||
(F):5'- CCTAAGGAAGAGTGTGCTGTTGGAG -3'
(R):5'- AGATCTACCTGAGGTGCCAGGATG -3'
(F):5'- TCCAGGGGTCAAGGGTG -3'
(R):5'- AGTAGGACTGAACTTGCACTC -3'