|Institutional Source||Beutler Lab|
|Gene Name||FERM domain containing 3|
|Synonyms||4.1O, EPB41L4O, P410, 9430066I12Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.367)|
|Stock #||R4616 (G1)|
|Chromosomal Location||74013442-74202214 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 74187872 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 585 (V585A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081514 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084474] [ENSMUST00000098006]|
AA Change: V585A
PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: V585A
|Meta Mutation Damage Score||0.1016|
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Frmd3||
(F):5'- AATCCTGACCGGCCATATCTGG -3'
(R):5'- CAAGGTTTGAGCAGTCAGTTAAG -3'
(F):5'- CCTGGTCAAGAGTTTCTCCAGG -3'
(R):5'- GCAGTCAGTTAAGAGAGTTAAGAGTC -3'