|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: 0.399)|
|Stock #||R5434 (G1)|
|Chromosomal Location||74013442-74202214 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 74187796 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 560 (I560F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081514 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084474] [ENSMUST00000098006]|
|Predicted Effect||probably damaging
AA Change: I560F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I560F
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3459|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
|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'- CGCCAAGCTTTGTCATGGAG -3'
(R):5'- GGTTTGAGCAGTCAGTTAAGAG -3'
(F):5'- ATGGAGCTATTCAATCCTGACCGG -3'
(R):5'- GACTACCTCTTGACAACTGAAGG -3'