|Institutional Source||Beutler Lab|
|Gene Name||sulfatase modifying factor 2|
|Essential gene?||Probably non essential (E-score: 0.080)|
|Stock #||R1565 (G1)|
|Chromosomal Location||129846986-129864050 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 129859914 bp (GRCm38)|
|Amino Acid Change||Asparagine to Lysine at position 230 (N230K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126036 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026617] [ENSMUST00000137357] [ENSMUST00000171300]|
AA Change: N230K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N230K
|Meta Mutation Damage Score||0.6981|
|Coding Region Coverage||
|Validation Efficiency||96% (82/85)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sumf2||
(F):5'- GTCCTTCTGCTTACAGAGTGAGCC -3'
(R):5'- TGCCCATGAGGTCATACAGTCCTAC -3'
(F):5'- TTACAGAGTGAGCCGTCTCC -3'
(R):5'- GGTCATACAGTCCTACAGAGTAGC -3'