|Institutional Source||Beutler Lab|
|Gene Name||family with sequence similarity 71, member A|
|Is this an essential gene?||Probably non essential (E-score: 0.061)|
|Stock #||R0402 (G1)|
|Chromosomal Location||191162584-191164817 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 191164440 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 2 (D2G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000127945 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000171798]|
|Predicted Effect||probably benign
AA Change: D2G
PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: D2G
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (74/74)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fam71a||
(F):5'- TCTCGAATATCGGCGCGTACTTG -3'
(R):5'- TTGTAGACCCTGAAGAGAACCTCCC -3'
(F):5'- CGGCGCGTACTTGAATATATC -3'
(R):5'- TGAAGAGAACCTCCCTGGAGTC -3'